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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616351
http://purl.bioontology.org/ontology/OMIM/616351
|
|---|---|
| Preferred Name | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SPEECH DELAY, AND DYSMORPHIC FACIES |
| Synonyms |
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 34
NEDHSF
MENTAL RETARDATION, AUTOSOMAL DOMINANT 34
MRD34
CERTRA SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 34
NEDHSF
MENTAL RETARDATION, AUTOSOMAL DOMINANT 34
MRD34
CERTRA SYNDROME
|
|---|---|
| prefLabel | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SPEECH DELAY, AND DYSMORPHIC FACIES
|
| Gene Symbol |
COL4A3BP
CERT
GPBP
NEDHSF
CERT1
|
| Scope Statement | Variable phenotypic features [MISCELLANEOUS]
Onset at birth or infancy [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Caused by mutation in the ceramide transporter 1 gene (CERT1, 604677.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 5q13.3
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 616351
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4225156
|
| 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 |