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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614501
http://purl.bioontology.org/ontology/OMIM/614501
|
|---|---|
| Preferred Name | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, CRANIOFACIAL ABNORMALITIES, AND SEIZURES |
| Synonyms |
PMRED
NEDHCS
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PMRED
NEDHCS
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM
|
|---|---|
| prefLabel | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, CRANIOFACIAL ABNORMALITIES, AND SEIZURES
|
| Gene Symbol |
SNIP1
NEDHCS
|
| Scope Statement | Prevalent among Amish individuals due to a founder mutation [MISCELLANEOUS]
Caused by mutation in the SMAD nuclear interacting protein-1 gene (SNIP1, 608241.0001) [MOLECULAR BASIS]
Onset at birth [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1p34.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 614501
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3281055
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |