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General Information
ZIRC
OBO ID: DOID:0050997
Term Name: cerebellar ataxia, mental retardation and dysequlibrium syndrome Search Ontology:
Synonyms:
  • CAMRQ
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. (3)
References:
Ontology: Human Disease   (DOID:0050997)
OTHER cerebellar ataxia, mental retardation and dysequlibrium syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ATP8A2 ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 615268
CA8 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 613227
VLDLR Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 224050
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 610185
ZEBRAFISH MODELS
Fish Conditions Citations
AB + MO3-ca8 standard conditions Huang et al., 2014
PHENOTYPE No data available

CITATIONS (2)