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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620141
http://purl.bioontology.org/ontology/OMIM/620141
|
|---|---|
| Preferred Name | DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES |
| Synonyms |
DEVLO
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | DEVLO
|
|---|---|
| prefLabel | DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES
|
| Gene Symbol |
DEVLO
ARC20
ARPC4
|
| Scope Statement | Caused by mutation in the actin-related protein 2/3 complex, subunit 4 gene (ARPC4, 604226.0001) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 3p25.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620141
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5774262
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |