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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618088
http://purl.bioontology.org/ontology/OMIM/618088
|
|---|---|
| Preferred Name | NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES |
| Synonyms |
NEDAMSS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | NEDAMSS
|
|---|---|
| prefLabel | NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES
|
| Gene Symbol |
C14orf4
NEDAMSS
EAP1
IRF2BPL
|
| Scope Statement | Onset in infancy or childhood [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Caused by mutation in the interferon regulatory factor 2-binding protein like gene (IRF2BPL, 611720.0001) [MOLECULAR BASIS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 14q24.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618088
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4748127
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |