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GENATLAS PHENOTYPE
last update : 16-12-2015
Symbol CHQL2
Location 17p13.3
Name cerebellar hypoplasia and quadrupedal locomotion 2
Other name(s) cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2
Corresponding gene WDR81
Other symbol(s) CAMRQ2
Main clinical features
  • cerebellar hypoplasia, mental retardation, and an inability to walk bipedally, with kyphosis, short stature, cerebellar ataxia, dysarthria, dysmetria, and dysdiadochokinesia without pyramidal signs
  • on brain MRI hypogenesis and midline clefting of the cerebellar vermis, dentate nucleus atrophic, and generalized brain atrophy with mild hypoplasia of the corpus callosum
  • downbeat nystagmus in all patients, and temporal disc pallor and macular atrophy in any
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Remark(s)