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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618659
http://purl.bioontology.org/ontology/OMIM/618659
|
|---|---|
| Preferred Name | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES |
| Synonyms |
NEDDFSA
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | NEDDFSA
|
|---|---|
| prefLabel | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
|
| Gene Symbol |
NEDDFSA
ZMIZ1
KIAA1224
RAI17
ZIMP10
|
| Scope Statement | Caused by mutation in the zinc finger MIZ-domain containing 1 gene (ZMIZ1, 607159.0001) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Highly variable phenotype [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 10q22.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618659
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5231448
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |