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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/615075
http://purl.bioontology.org/ontology/OMIM/615075
|
|---|---|
| Preferred Name | NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS |
| Synonyms |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, FORMERLY
NEDSDV
MRD19, FORMERLY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, FORMERLY
NEDSDV
MRD19, FORMERLY
|
|---|---|
| prefLabel | NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS
|
| Gene Symbol |
EVR7
CTNNB1
NEDSDV
|
| notation | 615075
|
| Scope Statement | Caused by mutation in the beta-1 catenin gene (CTNNB1, 116806.0017) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 3p22.1
|
| tui | T047
|
| cui | C3554449
|
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