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Metadata
ID DOID:0050997
Name cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome
Definition A syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia.
https://pubmed.ncbi.nlm.nih.gov/21885617/, https://pubmed.ncbi.nlm.nih.gov/33981800/, https://pubmed.ncbi.nlm.nih.gov/38109455/, https://pubmed.ncbi.nlm.nih.gov/38581205/
Xrefs

GARD:1998

MESH:C535731

MIM:PS224050

ORDO:1766

UMLS_CUI:C0394006

Subsets

DO_rare_slim

Synonyms

CAMRQ [EXACT]

CAMRQ syndrome [EXACT]

cerebellar ataxia and mental retardation with or without quadrupedal locomotion [EXACT]

cerebellar ataxia, mental retardation, and disequilibrium syndrome [EXACT]

cerebellar ataxia, mental retardation, and dysequilibrium syndrome [EXACT]

DES [EXACT]

disequilibrium syndrome [RELATED]

dysequilibrium syndrome [RELATED]

Uner Tan syndrome [EXACT]

UTS [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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