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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/615268
http://purl.bioontology.org/ontology/OMIM/615268
|
|---|---|
| Preferred Name | CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 4 |
| Synonyms |
CAMRQ4
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4
CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 4
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CAMRQ4
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4
CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 4
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|---|---|
| prefLabel | CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 4
|
| Gene Symbol |
ATPIB
ATP8A2
CAMRQ4
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| Scope Statement | Onset at birth [MISCELLANEOUS]
Caused by mutation in the ATPase, class I, type 8A, member 2 gene (ATP8A2, 605870.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 13q12
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 615268
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3808977
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |