{"frequencyBands":{"HP:0040280":[100,100],"HP:0040281":[80,99],"HP:0040282":[30,79],"HP:0040283":[5,29],"HP:0040284":[1,4],"HP:0040285":[0,0]},"page":{"columns":[{"gene":"","key":"MONDO:0010083/OMIM:271980","label":"Succinic semialdehyde dehydrogenase deficiency","mondoId":"MONDO:0010083","onsetQualifier":null,"recordKeys":["0fa94d6f8202806748b5a7152d8971fdcbb6a9e0ca28ffa4d9ff026a1881ce1d","10a09dfc2c811e4be509fc5461055ab3d170c40e9e679dce583c6266441f3c67","10e4c16dfecb7887f6b984211a33844cab44d47b8bc77df358d9d6ea9212b1aa","15a8d99814aea25757c46ee813aee4692e3d00286935ce938195143915014ca0","193aa2a594ce1d852506072ff44ed127f6117055b9a1c670f30d9abb934407f3","19d0afd6662880d963f97c03a71c4035c7905073d848da5059e68e0817dd423f","1bc50e60a7d8ef353c518f038b2fc2708125968ab3d30f25647dd9a7d6c42edc","1d4ded2c4ee2df76e1c066fdb8f0110653d0465ce7b466b429829bcd5e57a897","2058452901e2c78bde59e3bb759ec064cfd24564b1a3ec9cdf78d4d39297b424","224335e46f281cb896988fab4350763bf46e875732526acbad3086336e77637e","23aed564479759c8dd1cf3ce71738f3bdd73bc900e4cb5d41061bd8239a28a81","253a4c0ae4b8d644c5c9961b576564d5c675534940ead17b2c337f76072a7b7f","2acd2d2a744e683d807c6af30404b8d6acc35d620e4d104ed5a2aad6c39c946a","2ff719951bbf90fb4c224be70a4700ab3a58e3863d2ac7afa9fbcb47c42a76aa","31f7ad7aa665826e6abda4f94847fe3ad9e05beeeaaecf3ef3c6b49b885175a5","3852d0654f462c84526d0ad88e8d1d382f669163a2c219fb804f61756a7fb61e","3bf67227f1f148f1bd89efc1d3c10949e5f75705d8313c8edfee6487d5be7f7b","3ea5aeaa340f0f13928dda2a05a8fb84ecd4cd150155f250d0b16c30d7b916ca","4d6b2cc337fd236b819d1692130ea6d66bd0e5e794d893c00020e5db5fe26dfa","4de1b263d637f65a0c4afcf792933f29119d3001df066fc0df21fbec0f445cc9","52701038928117e580f1e2651277a7103624b9b9e2ea63d43673ba697e32c344","5c8a19229f815f5e0cca77f800a9cfb8ecd6fffd59cfebd744b71fc363537240","674e4c1f90689c3c02c182afea1cd0e498f852adf116ff02676a854e7bb7dd63","677586bb454343975464d06b5a3ab70b802a6ed8da5f9bf626985678d04d51e6","6daf8ed3638cb0cf1d20caabb68e173c7469afa725cfb774ce56e0fde2297168","70e032907e705dc43de5096cef71b88ac340656e6906785a31475a631093b90b","79286d99ad48a96f28b9eb9c00b012fb66caf175aa0969697b92acc72cd5a577","a00fa24bcf349cb2ff810c2b96704ed1873bfb253322aa5156cc16aad43717d0","af8ffec368e4342714a4bf5a100bc6c9ea7e602eac3f4e5572358f6845f1618f","cf0a5c61ed1a1a9ed551a0131252d6e7c1edf435362e39b8572bebf1143e682a","d4a7a33ca158a589d282c544b3b1328bcf98f859ec81db23600c41064aaadee9","da29f8a42eeea86507da729ba6571ea6bd12fbfe49d35556b5b819a6d385bd45","e16f638dcafab46d336ceb8c92f3059a18e744fd8b8161df9daa16334fd3a024","fd494ca5f8af064bc8d1eb27ef51b96c5ce9c52b30059c5dd442f79debd1499b"],"recordQualifiers":{},"scopeLabel":"OMIM:271980","sourceIds":["OMIM:271980"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0010083/ORPHA:22","label":"Succinic semialdehyde dehydrogenase deficiency","mondoId":"MONDO:0010083","onsetQualifier":null,"recordKeys":["3a5c5b319d90b75c85d226f287a7d0ebeb8f7ed017c67fc150d92e854e39b698","42c1d34253145541d5b948c32f32f92f4b00b59a573ac4a86b61bf9842e0e0b1","527a625798fd9089f9ae9e88b32e18cff64d3ed9538309f06855f2f7170c0d3a","62cd3e7de74fbfaeca20b6014ff2cc0b1c7ab3f2f2b6ed9beee9a9719b140ff3","6cb2ca8f8d6d54a027f98ce3c658f9854af8b481171d89768f4dd40229c35329","72023674467fdbda0419c9f48b090eea7e721ade9d1869920c784773088e9647","85405a338a1821f2858d4385099d33151f90c58f9e17590c2ab4755a8135ca14","98ea499af520289313ac480b0f3a6782a23c9267559854290edf5f30fcbdc86b","f9a7f2c9f32470d7653c4c481474c2cbab194e5e09d5ddc18c37e7cc21639ef0"],"recordQualifiers":{},"scopeLabel":"ORPHA:22","sourceIds":["ORPHA:22"],"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:0010083/OMIM:271980","MONDO:0010083/ORPHA:22"],"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":11,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":43,"sourceGroups":{"omim":22,"orphanet":9,"published":12}},"features":[{"hpoId":"HP:0000496","label":"Abnormality of eye movement","primary":false},{"hpoId":"HP:0001939","label":"Abnormality of metabolism/homeostasis","primary":false},{"hpoId":"HP:0000718","label":"Aggressive behavior","primary":false},{"hpoId":"HP:0000739","label":"Anxiety","primary":false},{"hpoId":"HP:0001251","label":"Ataxia (coordination difficulty)","primary":false},{"hpoId":"HP:0000708","label":"Atypical behavior","primary":false},{"hpoId":"HP:0000717","label":"Autism","primary":false},{"hpoId":"HP:0002069","label":"Bilateral tonic-clonic seizure","primary":false},{"hpoId":"HP:0001272","label":"Cerebellar atrophy","primary":false},{"hpoId":"HP:0032530","label":"Decreased tissue succinic semialdehyde dehydrogenase activity","primary":false},{"hpoId":"HP:0002188","label":"Delayed CNS myelination","primary":false},{"hpoId":"HP:0000750","label":"Delayed speech and language","primary":false},{"hpoId":"HP:0002353","label":"EEG abnormality","primary":false},{"hpoId":"HP:6000991","label":"Elevated circulating 4-hydroxybutyric acid concentration","primary":false},{"hpoId":"HP:0410053","label":"Elevated circulating gamma-aminobutyric acid concentration","primary":false},{"hpoId":"HP:0032532","label":"Elevated CSF 4-hydroxybutyric acid concentration","primary":false},{"hpoId":"HP:0032531","label":"Elevated CSF gamma-aminobutyric acid concentration","primary":false},{"hpoId":"HP:6000608","label":"Elevated urinary 3,4-Dihydroxybutyric acid level","primary":false},{"hpoId":"HP:0032528","label":"Elevated urinary 4-hydroxybutyric acid","primary":false},{"hpoId":"HP:0001290","label":"Generalized hypotonia","primary":false},{"hpoId":"HP:0002123","label":"Generalized myoclonic seizure","primary":false},{"hpoId":"HP:0002121","label":"Generalized non-motor (absence) seizure","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0000738","label":"Hallucinations","primary":false},{"hpoId":"HP:0000752","label":"Hyperactivity","primary":false},{"hpoId":"HP:0002487","label":"Hyperkinetic movements","primary":false},{"hpoId":"HP:0001265","label":"Hyporeflexia","primary":false},{"hpoId":"HP:0001252","label":"Hypotonia","primary":false},{"hpoId":"HP:0500253","label":"Increased level of gamma-aminobutyric acid in urine","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0001270","label":"Motor delay","primary":false},{"hpoId":"HP:0000709","label":"Psychosis","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0100716","label":"Self-injurious behavior","primary":false},{"hpoId":"HP:0002133","label":"Status epilepticus","primary":false}],"ledeHtml":"Succinic semialdehyde dehydrogenase deficiency is a disorder that can cause a variety of neurological problems. People with this condition typically have developmental delays, especially in speech development; intellectual disabilities; and decreased muscle tone (hypotonia) soon after birth. Communication problems may improve over time in people with this disorder.","mondoId":"MONDO:0010083","records":[{"frequencyKind":"count","key":"0fa94d6f8202806748b5a7152d8971fdcbb6a9e0ca28ffa4d9ff026a1881ce1d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"PCS","frequency_raw":"28/62","hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"PMID:12743223","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"10a09dfc2c811e4be509fc5461055ab3d170c40e9e679dce583c6266441f3c67","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0410053","is_excluded":false,"label":"Elevated circulating gamma-aminobutyric acid concentration","onset_id":null,"reference":"OMIM:271980","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"10e4c16dfecb7887f6b984211a33844cab44d47b8bc77df358d9d6ea9212b1aa","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:6000608","is_excluded":false,"label":"Elevated urinary 3,4-Dihydroxybutyric acid level","onset_id":null,"reference":"PMID:12127325","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"15a8d99814aea25757c46ee813aee4692e3d00286935ce938195143915014ca0","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"PCS","frequency_raw":"26/62","hpo_id":"HP:0001265","is_excluded":false,"label":"Hyporeflexia","onset_id":null,"reference":"PMID:12743223","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"193aa2a594ce1d852506072ff44ed127f6117055b9a1c670f30d9abb934407f3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"PCS","frequency_raw":"49/62","hpo_id":"HP:0001270","is_excluded":false,"label":"Motor delay","onset_id":null,"reference":"PMID:12743223","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"19d0afd6662880d963f97c03a71c4035c7905073d848da5059e68e0817dd423f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002123","is_excluded":false,"label":"Generalized myoclonic seizure","onset_id":null,"reference":"OMIM:271980","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"1bc50e60a7d8ef353c518f038b2fc2708125968ab3d30f25647dd9a7d6c42edc","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"TAS","frequency_raw":"20/20","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"OMIM:271980","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"1d4ded2c4ee2df76e1c066fdb8f0110653d0465ce7b466b429829bcd5e57a897","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"PCS","frequency_raw":"49/62","hpo_id":"HP:0001290","is_excluded":false,"label":"Generalized hypotonia","onset_id":null,"reference":"PMID:12743223","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"2058452901e2c78bde59e3bb759ec064cfd24564b1a3ec9cdf78d4d39297b424","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"PCS","frequency_raw":"27/62","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"PMID:12743223","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"224335e46f281cb896988fab4350763bf46e875732526acbad3086336e77637e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000718","is_excluded":false,"label":"Aggressive behavior","onset_id":null,"reference":"OMIM:271980","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"23aed564479759c8dd1cf3ce71738f3bdd73bc900e4cb5d41061bd8239a28a81","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000738","is_excluded":false,"label":"Hallucinations","onset_id":null,"reference":"OMIM:271980","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"253a4c0ae4b8d644c5c9961b576564d5c675534940ead17b2c337f76072a7b7f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002133","is_excluded":false,"label":"Status epilepticus","onset_id":null,"reference":"OMIM:271980","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"2acd2d2a744e683d807c6af30404b8d6acc35d620e4d104ed5a2aad6c39c946a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"PCS","frequency_raw":"50/62","hpo_id":"HP:0000750","is_excluded":false,"label":"Delayed speech and language development","onset_id":null,"reference":"PMID:12743223","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"2ff719951bbf90fb4c224be70a4700ab3a58e3863d2ac7afa9fbcb47c42a76aa","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000739","is_excluded":false,"label":"Anxiety","onset_id":null,"reference":"OMIM:271980","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"31f7ad7aa665826e6abda4f94847fe3ad9e05beeeaaecf3ef3c6b49b885175a5","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000496","is_excluded":false,"label":"Abnormality of eye movement","onset_id":null,"reference":"OMIM:271980","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"3852d0654f462c84526d0ad88e8d1d382f669163a2c219fb804f61756a7fb61e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002069","is_excluded":false,"label":"Bilateral tonic-clonic seizure","onset_id":null,"reference":"OMIM:271980","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"3a5c5b319d90b75c85d226f287a7d0ebeb8f7ed017c67fc150d92e854e39b698","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:22","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001939","is_excluded":false,"label":"Abnormality of metabolism/homeostasis","onset_id":null,"reference":"ORPHA:22","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"3bf67227f1f148f1bd89efc1d3c10949e5f75705d8313c8edfee6487d5be7f7b","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0032532","is_excluded":false,"label":"Elevated CSF 4-hydroxybutyric acid concentration","onset_id":null,"reference":"OMIM:271980","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"3ea5aeaa340f0f13928dda2a05a8fb84ecd4cd150155f250d0b16c30d7b916ca","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"PCS","frequency_raw":"3/37","hpo_id":"HP:0001272","is_excluded":false,"label":"Cerebellar atrophy","onset_id":null,"reference":"PMID:12743223","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"42c1d34253145541d5b948c32f32f92f4b00b59a573ac4a86b61bf9842e0e0b1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:22","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"ORPHA:22","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"4d6b2cc337fd236b819d1692130ea6d66bd0e5e794d893c00020e5db5fe26dfa","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0032528","is_excluded":false,"label":"Elevated urinary 4-hydroxybutyric acid","onset_id":null,"reference":"OMIM:271980","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"4de1b263d637f65a0c4afcf792933f29119d3001df066fc0df21fbec0f445cc9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0100716","is_excluded":false,"label":"Self-injurious behavior","onset_id":null,"reference":"OMIM:271980","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"52701038928117e580f1e2651277a7103624b9b9e2ea63d43673ba697e32c344","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000717","is_excluded":false,"label":"Autism","onset_id":null,"reference":"OMIM:271980","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"527a625798fd9089f9ae9e88b32e18cff64d3ed9538309f06855f2f7170c0d3a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:22","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000708","is_excluded":false,"label":"Atypical behavior","onset_id":null,"reference":"ORPHA:22","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"5c8a19229f815f5e0cca77f800a9cfb8ecd6fffd59cfebd744b71fc363537240","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0500253","is_excluded":false,"label":"Increased level of gamma-aminobutyric acid in urine","onset_id":null,"reference":"OMIM:271980","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"62cd3e7de74fbfaeca20b6014ff2cc0b1c7ab3f2f2b6ed9beee9a9719b140ff3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:22","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"ORPHA:22","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"674e4c1f90689c3c02c182afea1cd0e498f852adf116ff02676a854e7bb7dd63","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:6000991","is_excluded":false,"label":"Elevated circulating 4-hydroxybutyric acid concentration","onset_id":null,"reference":"PMID:9683595","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"677586bb454343975464d06b5a3ab70b802a6ed8da5f9bf626985678d04d51e6","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0032530","is_excluded":false,"label":"Decreased tissue succinic semialdehyde dehydrogenase activity","onset_id":null,"reference":"OMIM:271980","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"6cb2ca8f8d6d54a027f98ce3c658f9854af8b481171d89768f4dd40229c35329","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:22","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"ORPHA:22","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"6daf8ed3638cb0cf1d20caabb68e173c7469afa725cfb774ce56e0fde2297168","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"PCS","frequency_raw":"2/37","hpo_id":"HP:0002188","is_excluded":false,"label":"Delayed CNS myelination","onset_id":null,"reference":"PMID:12743223","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"70e032907e705dc43de5096cef71b88ac340656e6906785a31475a631093b90b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"OMIM:271980","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"72023674467fdbda0419c9f48b090eea7e721ade9d1869920c784773088e9647","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:22","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"ORPHA:22","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"79286d99ad48a96f28b9eb9c00b012fb66caf175aa0969697b92acc72cd5a577","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"PCS","frequency_raw":"47/62","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"PMID:12743223","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"85405a338a1821f2858d4385099d33151f90c58f9e17590c2ab4755a8135ca14","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:22","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002133","is_excluded":false,"label":"Status epilepticus","onset_id":null,"reference":"ORPHA:22","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"98ea499af520289313ac480b0f3a6782a23c9267559854290edf5f30fcbdc86b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:22","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002123","is_excluded":false,"label":"Generalized myoclonic seizure","onset_id":null,"reference":"ORPHA:22","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"a00fa24bcf349cb2ff810c2b96704ed1873bfb253322aa5156cc16aad43717d0","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002121","is_excluded":false,"label":"Generalized non-motor (absence) seizure","onset_id":null,"reference":"OMIM:271980","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"af8ffec368e4342714a4bf5a100bc6c9ea7e602eac3f4e5572358f6845f1618f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000752","is_excluded":false,"label":"Hyperactivity","onset_id":null,"reference":"OMIM:271980","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"cf0a5c61ed1a1a9ed551a0131252d6e7c1edf435362e39b8572bebf1143e682a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002353","is_excluded":false,"label":"EEG abnormality","onset_id":null,"reference":"OMIM:271980","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d4a7a33ca158a589d282c544b3b1328bcf98f859ec81db23600c41064aaadee9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000709","is_excluded":false,"label":"Psychosis","onset_id":null,"reference":"OMIM:271980","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"da29f8a42eeea86507da729ba6571ea6bd12fbfe49d35556b5b819a6d385bd45","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002487","is_excluded":false,"label":"Hyperkinetic movements","onset_id":null,"reference":"OMIM:271980","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"e16f638dcafab46d336ceb8c92f3059a18e744fd8b8161df9daa16334fd3a024","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0032531","is_excluded":false,"label":"Elevated CSF gamma-aminobutyric acid concentration","onset_id":null,"reference":"OMIM:271980","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"f9a7f2c9f32470d7653c4c481474c2cbab194e5e09d5ddc18c37e7cc21639ef0","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:22","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002069","is_excluded":false,"label":"Bilateral tonic-clonic seizure","onset_id":null,"reference":"ORPHA:22","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"fd494ca5f8af064bc8d1eb27ef51b96c5ce9c52b30059c5dd442f79debd1499b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:271980","disease_name":"Succinic semialdehyde dehydrogenase deficiency","evidence":"PCS","frequency_raw":"28/62","hpo_id":"HP:0000708","is_excluded":false,"label":"Atypical behavior","onset_id":null,"reference":"PMID:12743223","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/succinic-semialdehyde-dehydrogenase-deficiency\">Succinic semialdehyde dehydrogenase deficiency</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the ALDH5A1 gene cause succinic semialdehyde dehydrogenase deficiency. The ALDH5A1 gene provides instructions for producing the succinic semialdehyde dehydrogenase enzyme. This enzyme is involved in the breakdown of a chemical that transmits signals in the brain (neurotransmitter) called gamma-amino butyric acid (GABA). The primary role of GABA is to prevent the brain from being overloaded with too many signals.</p><p>ALDH5A1 gene variants lead to a shortage (deficiency) of succinic semialdehyde dehydrogenase. This deficiency results in an increase in the amount of GABA and a related molecule called gamma-hydroxybutyrate (GHB) in the body, which affects the brain. It is unclear how an increase in GABA and GHB causes developmental delays, seizures, and other signs and symptoms of succinic semialdehyde dehydrogenase deficiency.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/succinic-semialdehyde-dehydrogenase-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Succinic semialdehyde dehydrogenase deficiency?"},{"bodyHtml":"<p>About half of people with succinic semialdehyde dehydrogenase deficiency experience seizures, difficulty coordinating movements (ataxia), decreased reflexes (hyporeflexia), and behavioral problems.  The most common behavioral problems associated with this condition are sleep disturbances, hyperactivity, difficulty maintaining attention, and anxiety. Other behavioral and psychiatric features, including aggression and obsessive-compulsive disorder (OCD), tend to develop in adolescence and early adulthood.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/succinic-semialdehyde-dehydrogenase-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"succinic-semialdehyde-dehydrogenase-deficiency","sourceDocuments":[{"name":"Succinic semialdehyde dehydrogenase deficiency","reviewed":"2024-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:19.995859+00:00","label":"Causes","pageSha256":"73759a0495ba3ba7307e54a19688eac66ea4fc233d939433b474d14fbde3d9f4","sourceUrl":"https://medlineplus.gov/genetics/condition/succinic-semialdehyde-dehydrogenase-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/succinic-semialdehyde-dehydrogenase-deficiency"}],"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":"Succinic semialdehyde dehydrogenase deficiency"},"schemaVersion":1}