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Metadata
DOID DOID:0050997
Name cerebellar ataxia, mental retardation and dysequlibrium syndrome
Definition An autosomal recessive cerebellar ataxia that is 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/, http://www.omim.org/entry/224050?search=224050&highlight=224050, http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1777&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=1766&Disease(s)/group%20of%20diseases=CAMRQ-syndrome&title=CAMRQ-syndrome&search=Disease_Search_Simple
Synonyms

CAMRQ [EXACT]

Xrefs

GARD:1998

OMIM:224050

OMIM:610185

OMIM:613227

OMIM:615268

Relationships

is_a autosomal recessive cerebellar ataxia

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