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DO Term : cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 [DOID:0070559] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATP8A2 gene on chromosome 13q12.13.

synonyms:
615268,
cerebellar ataxia, mental retardation, and disequilibrium syndrome 4,
CAMRQ syndrome 4,
OMIM:615268,
cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4,
CAMRQ4,
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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