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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620719
http://purl.bioontology.org/ontology/OMIM/620719
|
|---|---|
| Preferred Name | NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM |
| Synonyms |
NEDMSF
PADDAS SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
NEDMSF
PADDAS SYNDROME
|
|---|---|
| prefLabel | NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM
|
| Gene Symbol |
NEDMSF
PUM1
KIAA0099
|
| Scope Statement | Onset in infancy [MISCELLANEOUS]
Caused by mutation in the pumilio RNA binding family member 1 gene (PUM1, 607204.0002) [MOLECULAR BASIS]
De novo mutation [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1p35.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620719
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4693672
|
| Moved from | 617931
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |