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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616577
http://purl.bioontology.org/ontology/OMIM/616577
|
|---|---|
| Preferred Name | NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES |
| Synonyms |
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
EHLMRS
NEDHSB
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
EHLMRS
NEDHSB
|
|---|---|
| prefLabel | NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES
|
| Gene Symbol |
SPATA5
SPAF
AFG2A
NEDHSB
|
| Scope Statement | Caused by mutation in the spermatogenesis-associated protein 5 gene (SPATA5, 613940.0001) [MOLECULAR BASIS]
Onset in early infancy [MISCELLANEOUS]
Variable onset of seizures from neonatal to first year of life [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 4q28.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 616577
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4225276
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |