Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.
"},"coverage":{"countRecords":29,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":154,"sourceGroups":{"omim":34,"orphanet":92,"published":28}},"features":[{"hpoId":"HP:0005709","label":"2-3 toe cutaneous syndactyly","primary":false},{"hpoId":"HP:0001999","label":"Abnormal facial shape","primary":false},{"hpoId":"HP:0011376","label":"Abnormal morphology of the vestibule of the inner ear","primary":false},{"hpoId":"HP:0000119","label":"Abnormality of the genitourinary system","primary":false},{"hpoId":"HP:0000356","label":"Abnormality of the outer ear","primary":false},{"hpoId":"HP:0001919","label":"Acute kidney injury","primary":false},{"hpoId":"HP:0000718","label":"Aggressive behavior","primary":false},{"hpoId":"HP:0002023","label":"Anal atresia","primary":false},{"hpoId":"HP:0000739","label":"Anxiety","primary":false},{"hpoId":"HP:0000483","label":"Astigmatism","primary":false},{"hpoId":"HP:0001251","label":"Ataxia (coordination difficulty)","primary":false},{"hpoId":"HP:0001631","label":"Atrial septal defect","primary":false},{"hpoId":"HP:0007018","label":"Attention deficit hyperactivity disorder","primary":false},{"hpoId":"HP:0000708","label":"Atypical behavior","primary":false},{"hpoId":"HP:0000248","label":"Brachycephaly","primary":false},{"hpoId":"HP:0001156","label":"Brachydactyly","primary":false},{"hpoId":"HP:0000337","label":"Broad forehead","primary":false},{"hpoId":"HP:0002136","label":"Broad-based gait","primary":false},{"hpoId":"HP:0002389","label":"Cavum septum pellucidum","primary":false},{"hpoId":"HP:0001321","label":"Cerebellar hypoplasia","primary":false},{"hpoId":"HP:0000175","label":"Cleft palate","primary":false},{"hpoId":"HP:0030084","label":"Clinodactyly","primary":false},{"hpoId":"HP:0004209","label":"Clinodactyly of the 5th finger","primary":false},{"hpoId":"HP:0002169","label":"Clonus","primary":false},{"hpoId":"HP:0008554","label":"Cochlear malformation","primary":false},{"hpoId":"HP:0001374","label":"Congenital hip dislocation","primary":false},{"hpoId":"HP:0008527","label":"Congenital sensorineural hearing impairment","primary":false},{"hpoId":"HP:0000444","label":"Convex nasal ridge","primary":false},{"hpoId":"HP:0001363","label":"Craniosynostosis","primary":false},{"hpoId":"HP:0000028","label":"Cryptorchidism","primary":false},{"hpoId":"HP:0000750","label":"Delayed speech and language","primary":false},{"hpoId":"HP:0000268","label":"Dolichocephaly","primary":false},{"hpoId":"HP:0000494","label":"Downslanted palpebral fissures","primary":false},{"hpoId":"HP:0002280","label":"Enlarged cisterna magna","primary":false},{"hpoId":"HP:0000805","label":"Enuresis","primary":false},{"hpoId":"HP:0000286","label":"Epicanthus","primary":false},{"hpoId":"HP:0000324","label":"Facial asymmetry","primary":false},{"hpoId":"HP:0001349","label":"Facial diplegia","primary":false},{"hpoId":"HP:0001508","label":"Failure to thrive","primary":false},{"hpoId":"HP:0011968","label":"Feeding difficulties","primary":false},{"hpoId":"HP:0000454","label":"Flared nostrils","primary":false},{"hpoId":"HP:0008947","label":"Floppy infant","primary":false},{"hpoId":"HP:0002007","label":"Frontal bossing","primary":false},{"hpoId":"HP:0000009","label":"Functional abnormality of the bladder","primary":false},{"hpoId":"HP:0001290","label":"Generalized hypotonia","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0000218","label":"High palate","primary":false},{"hpoId":"HP:0002827","label":"Hip dislocation","primary":false},{"hpoId":"HP:0001385","label":"Hip dysplasia","primary":false},{"hpoId":"HP:0000085","label":"Horseshoe kidney","primary":false},{"hpoId":"HP:0000752","label":"Hyperactivity","primary":false},{"hpoId":"HP:0000316","label":"Hypertelorism","primary":false},{"hpoId":"HP:0001800","label":"Hypoplastic toenails","primary":false},{"hpoId":"HP:0000601","label":"Hypotelorism","primary":false},{"hpoId":"HP:0001252","label":"Hypotonia","primary":false},{"hpoId":"HP:0007068","label":"Inferior cerebellar vermis hypoplasia","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0006956","label":"Lateral ventricle dilatation","primary":false},{"hpoId":"HP:0001377","label":"Limited elbow extension","primary":false},{"hpoId":"HP:0000343","label":"Long philtrum","primary":false},{"hpoId":"HP:0002162","label":"Low posterior hairline","primary":false},{"hpoId":"HP:0000369","label":"Low-set ears","primary":false},{"hpoId":"HP:0002395","label":"Lower limb hyperreflexia","primary":false},{"hpoId":"HP:0002938","label":"Lumbar hyperlordosis","primary":false},{"hpoId":"HP:0000252","label":"Microcephaly","primary":false},{"hpoId":"HP:0000347","label":"Micrognathia","primary":false},{"hpoId":"HP:0000054","label":"Micropenis","primary":false},{"hpoId":"HP:0001270","label":"Motor delay","primary":false},{"hpoId":"HP:0000545","label":"Nearsightedness","primary":false},{"hpoId":"HP:0000341","label":"Narrow forehead","primary":false},{"hpoId":"HP:0000657","label":"Oculomotor apraxia","primary":false},{"hpoId":"HP:0001539","label":"Omphalocele","primary":false},{"hpoId":"HP:0001643","label":"Patent ductus arteriosus","primary":false},{"hpoId":"HP:0000767","label":"Pectus excavatum","primary":false},{"hpoId":"HP:0001763","label":"Pes planus","primary":false},{"hpoId":"HP:0008081","label":"Pes valgus","primary":false},{"hpoId":"HP:0007010","label":"Poor fine motor coordination","primary":false},{"hpoId":"HP:0002465","label":"Poor speech","primary":false},{"hpoId":"HP:0008897","label":"Postnatal growth retardation","primary":false},{"hpoId":"HP:0001622","label":"Premature birth","primary":false},{"hpoId":"HP:0001212","label":"Prominent fingertip pads","primary":false},{"hpoId":"HP:0005487","label":"Prominent metopic ridge","primary":false},{"hpoId":"HP:0000426","label":"Prominent nasal bridge","primary":false},{"hpoId":"HP:0000448","label":"Prominent nose","primary":false},{"hpoId":"HP:0000520","label":"Proptosis","primary":false},{"hpoId":"HP:0000411","label":"Protruding ear","primary":false},{"hpoId":"HP:0009466","label":"Radial deviation of finger","primary":false},{"hpoId":"HP:0002719","label":"Recurrent infections","primary":false},{"hpoId":"HP:0001852","label":"Sandal gap","primary":false},{"hpoId":"HP:0003691","label":"Shoulder blades sticking out (scapular winging)","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0000407","label":"Sensorineural hearing loss","primary":false},{"hpoId":"HP:0000736","label":"Short attention span","primary":false},{"hpoId":"HP:0010743","label":"Short metatarsal","primary":false},{"hpoId":"HP:0000470","label":"Short neck","primary":false},{"hpoId":"HP:0003196","label":"Short nose","primary":false},{"hpoId":"HP:0004322","label":"Short stature","primary":false},{"hpoId":"HP:0000954","label":"Single transverse palmar crease","primary":false},{"hpoId":"HP:0002360","label":"Sleep disturbance","primary":false},{"hpoId":"HP:0001518","label":"Small for gestational age","primary":false},{"hpoId":"HP:0001792","label":"Small nail","primary":false},{"hpoId":"HP:0000046","label":"Small scrotum","primary":false},{"hpoId":"HP:0000319","label":"Smooth philtrum","primary":false},{"hpoId":"HP:0001257","label":"Spasticity","primary":false},{"hpoId":"HP:0001328","label":"Specific learning disability","primary":false},{"hpoId":"HP:0003298","label":"Spina bifida occulta","primary":false},{"hpoId":"HP:0000486","label":"Strabismus","primary":false},{"hpoId":"HP:0001182","label":"Tapered finger","primary":false},{"hpoId":"HP:0000219","label":"Thin upper lip vermilion","primary":false},{"hpoId":"HP:0001770","label":"Toe syndactyly","primary":false},{"hpoId":"HP:0000325","label":"Triangular face","primary":false},{"hpoId":"HP:0002317","label":"Unsteady gait","primary":false},{"hpoId":"HP:0000582","label":"Upslanted palpebral fissure","primary":false},{"hpoId":"HP:0000076","label":"Vesicoureteral reflux","primary":false},{"hpoId":"HP:0000465","label":"Webbed neck","primary":false},{"hpoId":"HP:0006610","label":"Wide intermamillary distance","primary":false},{"hpoId":"HP:0000431","label":"Wide nasal bridge","primary":false},{"hpoId":"HP:0000349","label":"Widow's peak","primary":false}],"ledeHtml":"10q26 deletion syndrome is a condition that results from the loss (deletion) of a small piece of chromosome 10 in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated 10q26.","mondoId":"MONDO:0012315","records":[{"frequencyKind":"count","key":"0287b018c7168a85033f8ba2c51d30bd3f7f93721ed2352cca2a08737c4c7ba2","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"PCS","frequency_raw":"4/15","hpo_id":"HP:0000411","is_excluded":false,"label":"Protruding ear","onset_id":null,"reference":"PMID:14598339","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"029bdddd6e08854b82fbba082291d02f01b68796103efe52e5f7db61ae8808c7","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001518","is_excluded":false,"label":"Small for gestational age","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"047ea537cc917737cb9fc0ba9776391851b36d5b9f66b5e8c998afc1194d3857","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000545","is_excluded":false,"label":"Myopia","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"04b8dbde41642f1bb71bec8bc028df04fbc83920b9ee0932c9b72ade88725a9d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000218","is_excluded":false,"label":"High palate","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"07a19bac661c96f5a687c1e9ac33e059e875bc5fbdaa527baede797a54835621","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007068","is_excluded":false,"label":"Inferior cerebellar vermis hypoplasia","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"07d78c35362b4022582a308278ad9a04c87ce6183844192a87f0249be438102f","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000657","is_excluded":false,"label":"Oculomotor apraxia","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"089eb6e5bdc7ad6882022402e0047b02710afb0a3c88b641feab4d639d16f05c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"IEA","frequency_raw":"8/15","hpo_id":"HP:0000324","is_excluded":false,"label":"Facial asymmetry","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"0dea264745693bb4747c2cacdc7ad792349b84b3ba6caaf2560ad4e44e95e57e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0001374","is_excluded":false,"label":"Congenital hip dislocation","onset_id":null,"reference":"PMID:14598339","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"0f1f384370070ccade043abcf6330119964fc9804ca35e6bf32b63bc6fd62510","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000219","is_excluded":false,"label":"Thin upper lip vermilion","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"129962d016b52657f0506a8dd11f2c42ea28b52398f4dd6ef1b87f818bbf6b36","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"12c3a9f843732b34b362212472f8d8bfa48c8e8d64cee522e4cf812ee1076649","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0010743","is_excluded":false,"label":"Short metatarsal","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"132ee72e47958a649b73092f5d33c216f43e4a740841f63fcdd96a01bc315561","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"PCS","frequency_raw":"7/15","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"PMID:14598339","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"14793407f80248cf2c1672e680fd04940e80cc0dda2afaef329423a6875ba678","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001290","is_excluded":false,"label":"Generalized hypotonia","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"166f43bc5364cbe970c29e6e8974d9c4397d3278f1a9799e30cd738007e5b66b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000470","is_excluded":false,"label":"Short neck","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"16de8f461be7857bc3614370bd9c0ea3a6ee3c8d0df2661ac92eb3eeaea2c637","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001385","is_excluded":false,"label":"Hip dysplasia","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1909a161bc1cb1599bf9c37bf2545e2a889afbe54ab0b6c51eb1a164dfc7306e","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000009","is_excluded":false,"label":"Functional abnormality of the bladder","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1abd612c17322b4cdf7ce598e7880d60c11ec233f6e6a308dabe452ac132891e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002389","is_excluded":false,"label":"Cavum septum pellucidum","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2228609bf7c9274f7f5f16360018fd3945742758e66f93ae43456f2c550b9d2d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"262f406e795abf398fc93002589dbc4970a1d3d9ee69bfcf62aa2b04996a342d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"PCS","frequency_raw":"4/15","hpo_id":"HP:0000718","is_excluded":false,"label":"Aggressive behavior","onset_id":null,"reference":"PMID:14598339","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"27a42f0cac5c61d6bd49e83942b7fcdadab500df8aa2bbe3a4e7b56eb08dca4b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002360","is_excluded":false,"label":"Sleep disturbance","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"288c3634737178c13c2f7ec44a8c79f113fb85e8727f7e6ac6e6f9bea37e6a85","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0006956","is_excluded":false,"label":"Lateral ventricle dilatation","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2a56be679eb897957061d95159e608709d5c33f2d9d213e4c44bfafd44c34701","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0003691","is_excluded":false,"label":"Scapular winging","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2ab67bac6c238e0b32674aec58a70dae174af6f943b8f5cbf4cbde974dd79033","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000708","is_excluded":false,"label":"Atypical behavior","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"2d0f947c2d9bc0abfccc45ecf1d480b6bd70f302e4483608beaf62041de5c40a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000444","is_excluded":false,"label":"Convex nasal ridge","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"2d2febd66ba6eee73e9e24c45330c10b5e950c747b27cac834d07fe39bf84ff6","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001763","is_excluded":false,"label":"Pes planus","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"2da4f8cf7a7398bc1a07bb9672035e5b3d5bf442404a0fa6be0e299cf6ba4ed9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"PCS","frequency_raw":"4/15","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"PMID:14598339","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"2e0479239872f12e48d571dbc39c6efeee8a214013b8d7920a6b1dd3ba5ee339","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011968","is_excluded":false,"label":"Feeding difficulties","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"30e403b0e366387f18415c19016e09556060edf2e4af24d557808a37fc0565ec","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"PCS","frequency_raw":"2/15","hpo_id":"HP:0001631","is_excluded":false,"label":"Atrial septal defect","onset_id":null,"reference":"PMID:14598339","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"32e0113a2fe0506ac36166a3208c561b5a3df68ea3110ef5e0aa62dfb64ad3df","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000319","is_excluded":false,"label":"Smooth philtrum","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"33e64b7ca871ad93666e64c9c02c09b07e7c00d41cffee535182fbfb1df34de0","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001156","is_excluded":false,"label":"Brachydactyly","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"36bf0505c536476f415eb0940e5d22de2cdb05b5ddb6d9af949e2071633063bc","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"PCS","frequency_raw":"9/15","hpo_id":"HP:0001270","is_excluded":false,"label":"Motor delay","onset_id":null,"reference":"PMID:14598339","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"387d20dacf78a9927fd43e783e92c43aa6016b451cf87acddde02714d9c3cc2c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001999","is_excluded":false,"label":"Abnormal facial shape","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3a3ba44588fd97bca3408d1993ad870e34b561a1226d6658e923e02cd59bfdc8","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002023","is_excluded":false,"label":"Anal atresia","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3abd160b5cec5298e9b18ab9d5f092b03cf01075e041c93af9ec636185ea1b78","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002938","is_excluded":false,"label":"Lumbar hyperlordosis","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3c3083f4fe69a5dbef999389d864338436aadf0333673d823a9fdde3095a30a8","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0003196","is_excluded":false,"label":"Short nose","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"3ea1217f3390e94125215ef00d923a3bbdf696224265a646dddd11e331982459","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"PCS","frequency_raw":"5/15","hpo_id":"HP:0000486","is_excluded":false,"label":"Strabismus","onset_id":null,"reference":"PMID:14598339","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"42678eb0df518c9138ac5165469df62d645346270df9b0292ae5895b4aa53dce","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001643","is_excluded":false,"label":"Patent ductus arteriosus","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"45a79e3050ef421fb232e941fec80d7bf613178378287c0fa61911307bb1fe21","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000431","is_excluded":false,"label":"Wide nasal bridge","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"476b6112e639b13e2f171f597d2420ced4d8476af9b36bf71ced12a98f2da5e9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000739","is_excluded":false,"label":"Anxiety","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"47fc87735ecc828a085bff3d0afbf775dcf9272a165757136e7836b7a6fea475","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0003298","is_excluded":false,"label":"Spina bifida occulta","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4b2f2f865026e6cd19d4e5be9bc486c8bf98194c0752ff68887cb5392baa2a2a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000324","is_excluded":false,"label":"Facial asymmetry","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4bbfd795d723bc9a69c9767f622cdbe0e227c78579db1ce4acec40f20f51c276","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000582","is_excluded":false,"label":"Upslanted palpebral fissure","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"4cdae2b5f0684b34d98e0889a37b2c3996a093698fc0e7d5b9642c2140b3061f","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"PCS","frequency_raw":"2/15","hpo_id":"HP:0000319","is_excluded":false,"label":"Smooth philtrum","onset_id":null,"reference":"PMID:14598339","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"504f7fff76e133abea276390cc514768329d9eee1153e06333acd85a1baf2f22","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000286","is_excluded":false,"label":"Epicanthus","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"50c0cad861206de49e01be37b0cce14fe2f781312fb56089d0f2de3497e7717e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0005709","is_excluded":false,"label":"2-3 toe cutaneous syndactyly","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"50f482182c5a9fba8fdfb70473255d50d104eefbf6f7c5b391911e69f3e3eb17","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0000494","is_excluded":false,"label":"Downslanted palpebral fissures","onset_id":null,"reference":"PMID:14598339","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"53065a4162a80728db81d6e3a2b3731aef5f88e13d35e7bc766d3bad4053a6c3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004209","is_excluded":false,"label":"Clinodactyly of the 5th finger","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"54163f62b9aadef833aa3752bb591c9869f607fbf9dcc28ef501a66584dd706b","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0000028","is_excluded":false,"label":"Cryptorchidism","onset_id":null,"reference":"PMID:14598339","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"590e8e312176e9051bf8079cefff91bf4406347802a67d3c51cc6ff630a61d23","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002169","is_excluded":false,"label":"Clonus","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"5a066157ac9cbbbadc1dadec4374d90019d8829368a521611daf942c84431fa0","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000582","is_excluded":false,"label":"Upslanted palpebral fissure","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"5a92d78586c8d164c4988cf9fd37682e9172f6e2be44aff32c5ce75cb072e831","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000248","is_excluded":false,"label":"Brachycephaly","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5cb6e84784e90b2e6150c316fa831d2d8c9fb84f888d13a085f7eae21ac55095","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001631","is_excluded":false,"label":"Atrial septal defect","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"5feb10c3d53967a4a54d33bbfb135e7117aa47f5109aef9057f706473448f6d9","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0009466","is_excluded":false,"label":"Radial deviation of finger","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"614d9de1a7cec2b8b1cef7d7d9356d498defbd374e09db9206e1f3ff8d62e186","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0008897","is_excluded":false,"label":"Postnatal growth retardation","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"620096378b340b8a00c5028fae4c53f89e1139f3ea5f19ce67cae1a4a21d64b2","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000337","is_excluded":false,"label":"Broad forehead","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6242ce750fef8856439f1fc0d41b2b8dbfc924a40ba73c9ad61f7e558a8fb55b","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000954","is_excluded":false,"label":"Single transverse palmar crease","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"63d287ed04e9ac5a4cc80d3d3f21d4596cc64c1ce7c13e252408fc07d5d4b686","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007018","is_excluded":false,"label":"Attention deficit hyperactivity disorder","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"66a1a07fefffb8124bdfd52b205bdc751b7fcd9540443a8820cce035c56f7646","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002280","is_excluded":false,"label":"Enlarged cisterna magna","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"66bbd8d778c89e3e6f5907a186a3a25bfa75ffd26901e0395b63df89a47252b3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000752","is_excluded":false,"label":"Hyperactivity","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"67254df6e6e873c32e2a9b454e34b8bca28c524ff2fcfb7bc1f7e0c5bc2faa3d","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"688e8b7b14097cf7ee6018d501c6ddc0db6ae5639613b31bddece4e4bc767b24","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0005487","is_excluded":false,"label":"Prominent metopic ridge","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6bf5af39c9bf1ff5037b13f33d2d358301cf537a162706106d1046850f8bd791","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000486","is_excluded":false,"label":"Strabismus","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6ec1860e18dc1063bf74ecd89f185dc87084bdb1daa6ff6b713547fdbc8d7ee8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000718","is_excluded":false,"label":"Aggressive behavior","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"715c13241f648df4a812f7e8e2cfb7fff77de3f887500e3ecdab7535a2c93dc3","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000175","is_excluded":false,"label":"Cleft palate","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"71edaf3799af878ea57ed5d8162dfcd3ae9a0ae7981f304750c221c05d3d22a3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0002938","is_excluded":false,"label":"Lumbar hyperlordosis","onset_id":null,"reference":"PMID:14598339","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"735b4c9cc6b0d7a59c8bf1e9dcec66c8d2ff4be81361b875be707f6247554ed2","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000805","is_excluded":false,"label":"Enuresis","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7826206b000d4b54c9e8797a4163ca912f1cf3418a79274ea50642006bf58ba3","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0008527","is_excluded":false,"label":"Congenital sensorineural hearing impairment","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"7cf0a51dcd2d50cfb7c5dbdcb3ded1e3986ce121ae2389b7ebae20bf298f9c6d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002136","is_excluded":false,"label":"Broad-based gait","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"7d06191aac60bd47ac8680fcdc70d53d4dce7e2cf9f49e78bf70d57d52c5368a","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000085","is_excluded":false,"label":"Horseshoe kidney","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7f8c4b85deca89747f5ce3602c099f393cc083aff996fb97e883fc54c48a8f02","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002395","is_excluded":false,"label":"Lower limb hyperreflexia","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7ffb53e89a668e7b60db0685da94b63a2f5afa50a5e7c9e1b70629255504d791","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000483","is_excluded":false,"label":"Astigmatism","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"8054b713163e9201ce75d86b5c2a38c1c8b8b72dd7c96c82efae18b6b4c2023c","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"PCS","frequency_raw":"2/15","hpo_id":"HP:0000316","is_excluded":false,"label":"Hypertelorism","onset_id":null,"reference":"PMID:14598339","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"812522dfec2eb072845acc27f206620d6e3fbc0a10ee97ef2599f3edb3011524","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001182","is_excluded":false,"label":"Tapered finger","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"827382a062d67d0f5df24cd98bbb8c390b727f4da381fde50a3645535b4d2aa9","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000341","is_excluded":false,"label":"Narrow forehead","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"82f0139a776cbe5f282a3e81bb4ad8c7f7f8e8574c43295687ccbea5bf5ed76c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001363","is_excluded":false,"label":"Craniosynostosis","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"85e1883fd4bd47b0bba52592cc19d8d27ac85ec4cf89b42e31cd26396c54750a","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0011376","is_excluded":false,"label":"Abnormal morphology of the vestibule of the inner ear","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"85eaad9ea7bd39ef37b1636df952dc17a836beba90cd20f6119cf4f80b54e68a","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000076","is_excluded":false,"label":"Vesicoureteral reflux","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"877a56c00555e41fb3719a93ea2c609798c64cc2b400b465b458d1c97432aff6","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0008897","is_excluded":false,"label":"Postnatal growth retardation","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"8af51505b6976875dccf5659b18e06fd9cd37bfbf2ce425c3b529ba3e24aaa05","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0001212","is_excluded":false,"label":"Prominent fingertip pads","onset_id":null,"reference":"PMID:14598339","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"8d24d2e3bca66b354bbb2698eb52caeaedb05d82f1baf4f3ae3855f88bbe393e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000347","is_excluded":false,"label":"Micrognathia","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"8e5bee59686d78dbd7dff939c01c95dbd791bfbe87924308e8778cae1780c4d5","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001377","is_excluded":false,"label":"Limited elbow extension","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"93f29991849d77c2e7930ede9072426ebfa247f07713a7c905ee9858ed84ae35","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000046","is_excluded":false,"label":"Small scrotum","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"95a01840309c8e225f07e2a6e9abffbc25681a3e34b15c095e38593aed5234d3","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"PCS","frequency_raw":"7/15","hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"PMID:14598339","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"97dac08cca26833580a5841de8b0120b3d8b6d5f4d7d88ce56c6ac8997efb60c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002007","is_excluded":false,"label":"Frontal bossing","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"9bb789b2e91813d360ff20de8f0219daf0e1ec5786ab744d170ac967d8db39a2","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000448","is_excluded":false,"label":"Prominent nose","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9cd17d35c4d2a94a4ab7f818b241c549a4f6d0180684c124980f857861b7ab9f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001257","is_excluded":false,"label":"Spasticity","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9e01cd35aee14de63ec62d6fc381829e70748f844da6d9c911c3a1dafdb0bb05","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000347","is_excluded":false,"label":"Micrognathia","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"9e982aa53ab99737b57a00865a9181c5a38c460626d562e96f560e3e9288ba7b","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000369","is_excluded":false,"label":"Low-set ears","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"9ff38b9e6177cc1ff144c12353ece0dea636f4601f4b40a94da37561db98ab81","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001792","is_excluded":false,"label":"Small nail","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"a008ca8f2f1c48d522830f730f1bc85406e7ea08595240612f48111caa6b2479","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"a2a08ff2edb39e1d6288e50d30d3ff6c2dbfc236b4504ba3ac39a935b6803a31","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002719","is_excluded":false,"label":"Recurrent infections","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a2b37218379564845305a0887f2730f598bf57c870e51bda9d5793d88d60c45e","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000369","is_excluded":false,"label":"Low-set ears","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"a65dbf3bacc5a612b6615c2426422b2cd94db16e1632f7a7dc7988de2292fac8","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000407","is_excluded":false,"label":"Sensorineural hearing impairment","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"a696cd5118c5828717b09a29231a9d7e000f5cfb67b739428f282b6bb07d4aaf","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0001539","is_excluded":false,"label":"Omphalocele","onset_id":null,"reference":"PMID:14598339","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"a82ac2aa45b0bad2a6c2c3f0e64ef00446b8ac4dc75a8da82da62657f37186ae","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001212","is_excluded":false,"label":"Prominent fingertip pads","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"a941a43df24c6225a8a7e92b12c215c45a87e0ce4ea4abbb1fe8f541bea557ad","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"PCS","frequency_raw":"7/15","hpo_id":"HP:0004209","is_excluded":false,"label":"Clinodactyly of the 5th finger","onset_id":null,"reference":"PMID:14598339","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a9d8cb0401a7a3ddddb9902dd92bd19ccd362c325fbffafb7bcf1a9257bbb4a0","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"PCS","frequency_raw":"2/15","hpo_id":"HP:0000076","is_excluded":false,"label":"Vesicoureteral reflux","onset_id":null,"reference":"PMID:14598339","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"a9ff9c3323151c07f185b11769bdbc610d7e8bd33dc7458b3e000181d891f553","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002827","is_excluded":false,"label":"Hip dislocation","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"aa749689fb2894d00b215cdef042a7b96171204e7738b38b2d761c758bbd3f75","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000349","is_excluded":false,"label":"Widow's peak","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"aa8e35ff914b5a7a563fa875cc3b987ebe5e8c4c3917f606deb5737e6fc35b07","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0008081","is_excluded":false,"label":"Pes valgus","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ac7d857b5bf274f0b8fbd429f19cabe93362d0cdc1aeedb39af3e5509e938ea9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"b0f95b1064ea70297e0386bf9d6edda3fbc3b27cf3acd793891cec6a995b8b58","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"PCS","frequency_raw":"3/15","hpo_id":"HP:0005709","is_excluded":false,"label":"2-3 toe cutaneous syndactyly","onset_id":null,"reference":"PMID:14598339","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b18fdfbc39171d8e68464af0e531ca5880156500727190b8c8d98027d36494d3","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"PCS","frequency_raw":"6/15","hpo_id":"HP:0000219","is_excluded":false,"label":"Thin upper lip vermilion","onset_id":null,"reference":"PMID:14598339","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"b19adabd0a5d58546f4de1a51aa5557dec128e698c9ef63953fbb220ddd3c7e1","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0008554","is_excluded":false,"label":"Cochlear malformation","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"b1dff6efed882d819805d6c6d547e94fc1c71d1811103cbee42dd911e8513aa9","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0000286","is_excluded":false,"label":"Epicanthus","onset_id":null,"reference":"PMID:14598339","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"b205f7d84f36f39b9bbb5d180ed6af52c710e014ed173ba3f647dc70e2fc7585","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000356","is_excluded":false,"label":"Abnormality of the outer ear","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"b2429c856510e82a355fda6b28fe51a65f0b252465af96ff821f624b01c8e5ec","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002162","is_excluded":false,"label":"Low posterior hairline","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"b2ebb296ac499e667e8595d1e6021435d11b9bf4884f0dfe4d79f790e1868b78","raw":{"aspect":"P","body_system":"prenatal","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001622","is_excluded":false,"label":"Premature birth","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"b55aca85f404851d63e65e967ff8d13b5c5359d7e5e9e013d991e7766e973bb8","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"PCS","frequency_raw":"10/15","hpo_id":"HP:0000448","is_excluded":false,"label":"Prominent nose","onset_id":null,"reference":"PMID:14598339","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"b584931bf0728e7457c07ece054c96991884f290485ad9f67d58361b46c2d666","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000736","is_excluded":false,"label":"Short attention span","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"b5e21335cf3d5d0a659ef6dd9eeb24e1da5f9ddbfbd48e3af2c53a9c256a9395","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000325","is_excluded":false,"label":"Triangular face","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"b9a247348fb22d43faa535e24d4377cdff7e4eb54108ea5823c02a66992682ad","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002465","is_excluded":false,"label":"Poor speech","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"bbe0e612684bf8418f54e7cfd362375311cc838937b361e6ac4a97273fe7a147","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001328","is_excluded":false,"label":"Specific learning disability","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"bc43c4cec937d8a5ac4586c2358f4a3a03ed1c4524a8f2532ff93d1d0ce21e06","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000054","is_excluded":false,"label":"Micropenis","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"bce073f60c516a2b8aa978aca20f4b9533c5540ffd15d0df4d258838b58d1d4e","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001800","is_excluded":false,"label":"Hypoplastic toenails","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"bd2157fcea3cc01c39819d3157cf596c45540e79a3622840cc394caadb245fa5","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"PCS","frequency_raw":"2/15","hpo_id":"HP:0001852","is_excluded":false,"label":"Sandal gap","onset_id":null,"reference":"PMID:14598339","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"bdc65ed32d8091c4b344f8be5f860ad4d339c075e1d63670cdfe6a80ee2e6961","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001349","is_excluded":false,"label":"Facial diplegia","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c1db22d60575147d3cb0f089b2f2e2671027ccf5bb34637750e20a420c22698c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007010","is_excluded":false,"label":"Poor fine motor coordination","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"c536856450139f97512551fb543f5c8c528d3edeeaf9556de43f986c17167d5b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0000767","is_excluded":false,"label":"Pectus excavatum","onset_id":null,"reference":"PMID:14598339","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"c5ccd0e53c2a42d2e27c1efdce6962d2e6a044a25d1d4bf8b0a520e0d5bfac60","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001919","is_excluded":false,"label":"Acute kidney injury","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c62322bc53f6cd55290d66e04f02a23641126841306bb0e55d9cb760b7a7eb45","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000426","is_excluded":false,"label":"Prominent nasal bridge","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c669739faed73d09d0367066dbf75df0fef237e143cce9dcb612f97e3a9b1223","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001852","is_excluded":false,"label":"Sandal gap","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"c6f10562455cc290900e35de7a127af6301eb3846cbd55c2bc761c3769cf564f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001328","is_excluded":false,"label":"Specific learning disability","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"c9d09cb2591a5a25c6987b5ba1f24bac58a98300fe6aa3ba93e2a5933840b487","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"PCS","frequency_raw":"8/15","hpo_id":"HP:0000750","is_excluded":false,"label":"Delayed speech and language development","onset_id":null,"reference":"PMID:14598339","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"cab8d158918061a37488af4fa39076fd2db976062cc29474b2a535ced91f1cd7","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000601","is_excluded":false,"label":"Hypotelorism","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"cbdf733e3ea34710d69e97ec3a15a306be3d4da9db42c06acd77d09caeddbecd","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001643","is_excluded":false,"label":"Patent ductus arteriosus","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"cc641bd6fe6b3450fd5ce2cd085cdffc4becb65ef1dfbeb74bbf84ebe176f98b","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000411","is_excluded":false,"label":"Protruding ear","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cd97aa90b52b8feb155036b4a440572e8d104202db0744b1702b5a7c8e488e7e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001321","is_excluded":false,"label":"Cerebellar hypoplasia","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"cdd313949d0362e077c1920db22ac1d4130f2cf3f761cc742a63baa1188ee4f9","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000454","is_excluded":false,"label":"Flared nostrils","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"ce22bad8aa8a54213c65a1633c4cb5df8bc1465cd69d776743293e851e30fa9a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"cef80f9e534b37bf15ae731f425de419e309cc9bb5cc6df862f909910b82f90a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000268","is_excluded":false,"label":"Dolichocephaly","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"d011a6a82a7b767e7223ab0a99eeb3e550fa34962852dad7e5c23cafef91948a","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d278af2442f8517b6def61ffa2851e7f1ed755889aa7697acf1e8b78e2445720","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001363","is_excluded":false,"label":"Craniosynostosis","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"d33cd03a9b0c8c2aa04ccd9793bca57a652255c70bea9284a54eb4361cb17ac3","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000431","is_excluded":false,"label":"Wide nasal bridge","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"d402dfdd3eab3c2dcb6fdabb4b1eea671ac5e8f9f750bc0c543411dfb643823d","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"PCS","frequency_raw":"3/15","hpo_id":"HP:0000954","is_excluded":false,"label":"Single transverse palmar crease","onset_id":null,"reference":"PMID:14598339","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"d432e581bcdfef0bfa68b95c7e72b8a144134b62b25483499700a905bb0e02a5","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000325","is_excluded":false,"label":"Triangular face","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"d56df85bc0b3521b873c8de472bd5ded61c26820bcfdc2f73ef73d1adfce714d","raw":{"aspect":"P","body_system":"breast","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0006610","is_excluded":false,"label":"Wide intermamillary distance","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"dcda0ba808bd43385bb17b3f246a36c7695242c97f554a2dab9247dbd0658cdb","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000520","is_excluded":false,"label":"Proptosis","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"dead82034b201e61dc33488338f193a338fc3ed3613d9d528cbfd289502431d8","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0030084","is_excluded":false,"label":"Clinodactyly","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"dee594fbff3dfb1a5400e7be160636cb9de6848f49cf076bc99a42b563b7c626","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0008947","is_excluded":false,"label":"Floppy infant","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e2cc085f895e06cf80c0bed28c508b0cf740d35d44b84bd6cd50af8845850ba1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002317","is_excluded":false,"label":"Unsteady gait","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e2ebdfb9bda21d3f675f423dd146adad7aef7fa5bf4f664f9e85abd4d2bf7fc5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e4989d2195a1657700183cfd95fe4cb574a6df9ab2c0deb51b512d6089678770","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000750","is_excluded":false,"label":"Delayed speech and language development","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"e50b4f320d06a94be0eb5fa642fc90852d09f257c97dc4032b81ce183357908e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001770","is_excluded":false,"label":"Toe syndactyly","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"e839b1112694a0d2d2bef8ada81c42e787284cd7f6fe6efcfbf757935955d811","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000119","is_excluded":false,"label":"Abnormality of the genitourinary system","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e9158a9c212352fdac679d058aa53d87d75b1fcaea16aefa7be1252c85fcc7b8","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000494","is_excluded":false,"label":"Downslanted palpebral fissures","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e96ff28455d9e7bec02c08198ab7a0d6cb20066b8f1e16e074ad75f65139e84e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"eb79aba784a2830d2990a477b5554443b6ec4fb3bb1c024a11a28ec668389744","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0000218","is_excluded":false,"label":"High palate","onset_id":null,"reference":"PMID:14598339","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"f0498bd533e58fa5745b1104e12887d993c448c28c5014d8b04fccb81e31926f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0003691","is_excluded":false,"label":"Scapular winging","onset_id":null,"reference":"PMID:14598339","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"f33bbcd3ab9a37e23f62bf607f6011d30741f138dc017938c06332e7066553ee","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"f64bd972b8a747f8b1386cdd528d9ea2874fdf1ef0581d1238cafd81b7d44b04","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000767","is_excluded":false,"label":"Pectus excavatum","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"f952afd276405800a13c1156c2e4aec335272dba106f6cbc80e399ce7dae0d65","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000465","is_excluded":false,"label":"Webbed neck","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"fa0276990b9a9f19080fbddc91e30b5801fb69ba0ca77fc3cc85fc0566e755c4","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:609625","disease_name":"Chromosome 10q26 deletion syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000343","is_excluded":false,"label":"Long philtrum","onset_id":null,"reference":"OMIM:609625","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"fdd896a30b81501421784c5cccdaf03589c6802d0acef8a8a7deb4c3bbd1f182","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:96148","disease_name":"Distal deletion 10q syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002007","is_excluded":false,"label":"Frontal bossing","onset_id":null,"reference":"ORPHA:96148","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"People with a 10q26 deletion syndrome are missing between 3.5 million and 17 million DNA building blocks (base pairs), also written as 3.5-17 megabases (Mb), at position q26 on chromosome 10. The exact size of the deletion varies, and it is unclear what exact region needs to be deleted to cause the condition. In many affected individuals, the 10q26 deletions include the tip of the q arm of chromosome 10; however, some smaller deletions occur within the arm of the chromosome.
The signs and symptoms of 10q26 deletion syndrome are probably related to the loss of one or more genes in the deleted region. However, it is unclear which missing genes contribute to the specific features of the disorder.
","key":"forms","title":"What causes 10q26 deletion syndrome?"},{"bodyHtml":"The signs and symptoms of 10q26 deletion syndrome vary widely, even among affected members of the same family. Among the more common features associated with this chromosomal change are distinctive facial features, mild to moderate intellectual disability, growth problems, and developmental delay. People with 10q26 deletion syndrome often have delayed development of speech and of motor skills such as sitting, crawling, and walking. Some have limited speech throughout life. Affected individuals may experience seizures, attention-deficit/hyperactivity disorder (ADHD), poor impulse control (impulsivity), or exhibit autistic behaviors that affect communication and social interaction.
A range of facial features is seen in people with 10q26 deletion syndrome, but not all affected individuals have these features. Facial features of people with 10q26 deletion syndrome may include a prominent or beaked nose, a broad nasal bridge, a small jaw (micrognathia), malformed ears that are low set, a thin upper lip, and an unusually small head size (microcephaly). Many affected individuals have widely spaced eyes (hypertelorism) that do not look in the same direction (strabismus). Some people with this condition have a short neck with extra folds of skin (webbed neck).
Less common signs and symptoms can occur in 10q26 deletion syndrome. Skeletal problems include a spine that curves to the side (scoliosis), limited movement in the elbows or other joints, or curved fifth fingers and toes (clinodactyly). Slow growth before and after birth can also occur in affected individuals. Males with this condition may have genital abnormalities, such as a small penis (micropenis), undescended testes (cryptorchidism), or the urethra opening on the underside of the penis (hypospadias). Some people with 10q26 deletion syndrome have kidney abnormalities, heart defects, breathing problems, recurrent infections, or hearing or vision problems.
Source: MedlinePlus Genetics
","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"10q26-deletion-syndrome","sourceDocuments":[{"name":"10q26 deletion syndrome","reviewed":"2019-09","sections":{"causes":{"fetchedAt":"2026-10-20T20:18:46.923165+00:00","label":"Causes","pageSha256":"29d8ba517ed1d4cc90b573d142700ac90b317207aff2f78aab807d9d54f6ded5","sourceUrl":"https://medlineplus.gov/genetics/condition/10q26-deletion-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/10q26-deletion-syndrome"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"10q26 deletion syndrome"},"schemaVersion":1}