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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620636
http://purl.bioontology.org/ontology/OMIM/620636
|
|---|---|
| Preferred Name | NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE |
| Synonyms |
CONDCAC
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CONDCAC
|
|---|---|
| prefLabel | NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE
|
| Gene Symbol |
M11S1
NEDLAAD
CONDCAC
CAPRIN1
GRIP137
GPIAP1
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|
| Scope Statement | Onset in the first decade [MISCELLANEOUS]
Caused by mutation in the cell cycle-associated protein 1 gene (CAPRIN1, 601178.0001) [MOLECULAR BASIS]
Three unrelated patients have been reported (last curated November 2023) [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 11p13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620636
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5882726
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |