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Metadata
ID DOID:0050997
Name cerebellar ataxia, mental retardation and dysequlibrium syndrome
Definition An syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia.
http://www.ncbi.nlm.nih.gov/books/NBK1138/, https://ghr.nlm.nih.gov/condition/vldlr-associated-cerebellar-hypoplasia, https://pubmed.ncbi.nlm.nih.gov/28013290/, https://www.ncbi.nlm.nih.gov/books/NBK1874/
Xrefs

GARD:1998

OMIM:224050

OMIM:610185

OMIM:613227

OMIM:615268

Subsets

DO_rare_slim

Synonyms

CAMRQ [EXACT]

Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1) [EXACT]

Uner Tan syndrome [EXACT]

VLDLR Cerebellar Hypoplasia [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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