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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/617865
http://purl.bioontology.org/ontology/OMIM/617865
|
|---|---|
| Preferred Name | NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES |
| Synonyms |
NEDMAGA
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | NEDMAGA
|
|---|---|
| prefLabel | NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES
|
| Gene Symbol |
AFND
KIAA1577
NEDMAGA
ZSWIM6
|
| Scope Statement | Caused by mutation in the zinc finger swim domain-containing protein 6 gene (ZSWIM6, 615951.0002) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
Seven unrelated patients have been reported (last curated February 2018) [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 5q12.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 617865
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4693405
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |