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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/621182
http://purl.bioontology.org/ontology/OMIM/621182
|
|---|---|
| Preferred Name | NEURODEVELOPMENTAL DISORDER WITH POOR OR ABSENT SPEECH, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES |
| Synonyms |
UMAIR-ALFADHEL NEURODEVELOPMENTAL DISORDER
NEDUA
NEDSFB
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
UMAIR-ALFADHEL NEURODEVELOPMENTAL DISORDER
NEDUA
NEDSFB
|
|---|---|
| prefLabel | NEURODEVELOPMENTAL DISORDER WITH POOR OR ABSENT SPEECH, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES
|
| Gene Symbol |
POMFIl1
KIAA0938
NAV3
NEDSFB
|
| Scope Statement | De novo mutations have been reported in 2 unrelated patients (last curated April 2025) [MISCELLANEOUS]
Onset at birth [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Caused by mutation in the neuron navigator 3 gene (NAV3, 611629.0001) [MOLECULAR BASIS]
Rare patients may show normal early development up to 9 months [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 12q21.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 621182
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C6012716
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |