Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619273
http://purl.bioontology.org/ontology/OMIM/619273
|
|---|---|
| Preferred Name | CIMDAG SYNDROME |
| Synonyms |
CIMDAG
CEREBELLAR HYPOPLASIA, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, CONGENITAL MICROCEPHALY, DYSTONIA, DYSERYTHROPOIETIC ANEMIA, AND GROWTH RETARDATION
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CIMDAG
CEREBELLAR HYPOPLASIA, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, CONGENITAL MICROCEPHALY, DYSTONIA, DYSERYTHROPOIETIC ANEMIA, AND GROWTH RETARDATION
|
|---|---|
| prefLabel | CIMDAG SYNDROME
|
| Gene Symbol |
VPS4A
VPS4
CIMDAG
|
| Scope Statement | Caused by mutation in the vacuolar protein sorting 4 homolog A gene (VPS4A, 609982.0001) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
De novo mutations [MISCELLANEOUS]
One family with a homozygous mutation has been reported (last curated April 2021) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 16q22
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619273
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5543287
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |