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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/613443
http://purl.bioontology.org/ontology/OMIM/613443
|
|---|---|
| Preferred Name | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE |
| Synonyms |
MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS
MRD20, FORMERLY
CHROMOSOME 5q14.3 DELETION SYNDROME, PROXIMAL
NEDHSIL
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20, FORMERLY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS
MRD20, FORMERLY
CHROMOSOME 5q14.3 DELETION SYNDROME, PROXIMAL
NEDHSIL
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20, FORMERLY
|
|---|---|
| prefLabel | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE
|
| Gene Symbol |
DEL5q14.3
NEDHSIL
MEF2C
C5DELq14.3
|
| Scope Statement | Dysmorphic features are variable [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Caused by mutation in the MADS box transcription enhancer factor 2, polypeptide C gene (MEF2C, 600662.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 5q14
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 613443
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C3150700
C4225434
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |