OBO ID: DOID:0050997
Term Name: cerebellar ataxia, mental retardation and dysequlibrium syndrome Search Ontology:
Synonyms:
  • CAMRQ
  • Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1)
  • Uner Tan syndrome
  • VLDLR Cerebellar Hypoplasia
Definition: An syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia. (4)
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, impaired intellectual development, and dysequilibrium syndrome 4 615268
CA8 Cerebellar ataxia, impaired intellectual development and dysequilibrium syndrome 3 613227
VLDLR Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome 1 224050
WDR81 Cerebellar ataxia, impaired intellectual development, and dysquilibrium syndrome 2 610185
ZEBRAFISH MODELS
Fish Conditions Citations
AB + MO3-ca8 standard conditions Huang et al., 2014
PHENOTYPE No data available

CITATIONS (2)