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It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0012621/ORPHA:94064","label":"Deafness-infertility syndrome","mondoId":"MONDO:0012621","onsetQualifier":null,"recordKeys":["a260b87e0a217b8daf0f2a031b55b413662d2a72c9d2bf42be83669c08931f6d","afa3c6ba2d0e8e6e4b639738a7b74ca32e04146c1d5909b0b4ad8c051a4f0c63","f108a4cae2b925eda57e6d3f7514ed1c8cd07d19c1db7ce11575319dd34e6015"],"recordQualifiers":{},"scopeLabel":"ORPHA:94064","sourceIds":["ORPHA:94064"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."}],"comparison":{"collapseColumnsLabel":"Show initial comparisons","defaultColumnKeys":["MONDO:0012621/OMIM:611102","MONDO:0012621/ORPHA:94064"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"<p>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.</p>"},"coverage":{"countRecords":7,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":10,"sourceGroups":{"omim":0,"orphanet":3,"published":7}},"features":[{"hpoId":"HP:0012865","label":"Abnormal sperm head morphology","primary":false},{"hpoId":"HP:0012868","label":"Abnormal sperm tail morphology","primary":false},{"hpoId":"HP:0008669","label":"Abnormal spermatogenesis","primary":false},{"hpoId":"HP:0001751","label":"Abnormal vestibular function","primary":false},{"hpoId":"HP:0000027","label":"Azoospermia","primary":false},{"hpoId":"HP:0008619","label":"Bilateral sensorineural hearing impairment","primary":false},{"hpoId":"HP:0003251","label":"Male infertility","primary":false},{"hpoId":"HP:0012207","label":"Reduced sperm motility","primary":false},{"hpoId":"HP:0000407","label":"Sensorineural hearing loss","primary":false}],"ledeHtml":"Deafness-infertility syndrome is a condition characterized by hearing loss and difficulty conceiving children (a condition called infertility). Affected individuals have moderate to severe sensorineural hearing loss, which is caused by abnormalities in the inner ear. The hearing loss is typically diagnosed in early childhood and does not worsen over time. Individuals with this condition produce sperm that have decreased movement (motility). As a result, they cannot conceive without assisted reproductive technologies.","mondoId":"MONDO:0012621","records":[{"frequencyKind":"count","key":"27f60e792cf93fdda5a62365244c1658f80953f879a7e2ae698b657415ac0b09","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:611102","disease_name":"Deafness, sensorineural, and male infertility","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0012207","is_excluded":false,"label":"Reduced sperm motility","onset_id":null,"reference":"PMID:17098888","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"290e65db7a45a1b1dc6bb626f3afc77aff2bae363f5ffe82a26172ee7ec52fc3","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:611102","disease_name":"Deafness, sensorineural, and male infertility","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0012865","is_excluded":false,"label":"Abnormal sperm head morphology","onset_id":null,"reference":"PMID:17098888","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"3ce7ebd98f3dc48612f81fa8b714cf3d615d3f3d64c38eeeb05fad5e26b674f3","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:611102","disease_name":"Deafness, sensorineural, and male infertility","evidence":"PCS","frequency_raw":"10/10","hpo_id":"HP:0008619","is_excluded":false,"label":"Bilateral sensorineural hearing impairment","onset_id":"HP:0003577","reference":"PMID:17098888","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6df64c351b93cb75d842a3ad99fe8f010c02d0bcb173148a519a4d8a926283cf","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:611102","disease_name":"Deafness, sensorineural, and male infertility","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0008669","is_excluded":false,"label":"Abnormal spermatogenesis","onset_id":null,"reference":"PMID:17098888","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6ef32bcef3fb95002d9ea7b786895cb381b72b2430cef030f069e4597d27e7ed","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:611102","disease_name":"Deafness, sensorineural, and male infertility","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0003251","is_excluded":false,"label":"Male infertility","onset_id":"HP:0011462","reference":"PMID:17098888","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"a260b87e0a217b8daf0f2a031b55b413662d2a72c9d2bf42be83669c08931f6d","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:94064","disease_name":"Deafness-infertility syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000407","is_excluded":false,"label":"Sensorineural hearing impairment","onset_id":null,"reference":"ORPHA:94064","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"afa3c6ba2d0e8e6e4b639738a7b74ca32e04146c1d5909b0b4ad8c051a4f0c63","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:94064","disease_name":"Deafness-infertility syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000027","is_excluded":false,"label":"Azoospermia","onset_id":null,"reference":"ORPHA:94064","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"e85d53457fc95cbd602f86c3e9ec71ca413302c6c81bb60832dd25bc4ece95df","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:611102","disease_name":"Deafness, sensorineural, and male infertility","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0012868","is_excluded":false,"label":"Abnormal sperm tail morphology","onset_id":null,"reference":"PMID:17098888","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ec30070327ac668706f14ae26cbb3c9fd4bf2074406f4bfe5a7d0a711b9c3aed","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:611102","disease_name":"Deafness, sensorineural, and male infertility","evidence":"PCS","frequency_raw":"0/10","hpo_id":"HP:0001751","is_excluded":true,"label":"Abnormal vestibular function","onset_id":null,"reference":"PMID:17098888","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"f108a4cae2b925eda57e6d3f7514ed1c8cd07d19c1db7ce11575319dd34e6015","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:94064","disease_name":"Deafness-infertility syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003251","is_excluded":false,"label":"Male infertility","onset_id":null,"reference":"ORPHA:94064","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/deafness-infertility-syndrome\">Deafness-infertility syndrome</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Deafness-infertility syndrome is caused by a deletion of genetic material on the long (q) arm of chromosome 15. The signs and symptoms of deafness-infertility syndrome are related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. Researchers have determined that the loss of two specific genes on chromosome 15 is responsible for the main features of this condition. The loss of the STRC gene, which plays a role in the generation of nerve impulses that get interpreted as sound, is responsible for hearing loss. The loss of another gene, CATSPER2, which plays a role in sperm motility, is responsible for the sperm abnormalities. Researchers are working to determine how the loss of additional genes in the deleted region affects people with deafness-infertility syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/deafness-infertility-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Deafness-infertility syndrome?"},{"bodyHtml":"<p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/deafness-infertility-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"deafness-infertility-syndrome","sourceDocuments":[{"name":"Deafness-infertility syndrome","reviewed":"2024-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:52.813824+00:00","label":"Causes","pageSha256":"ea1df7e8565126977573db08e8b32266bd4be85f8e1e2149292d3822559583ed","sourceUrl":"https://medlineplus.gov/genetics/condition/deafness-infertility-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/deafness-infertility-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":"Deafness-infertility syndrome"},"schemaVersion":1}