WDR81

Clinical Characteristics

The clinical features of Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 include:

  • Severe intellectual disability
  • Cerebellar ataxia
  • Dysmetria
  • Dysarthria
  • Severe truncal ataxia
  • Tremor
  • Dysdiadochokinesis
  • Quadrupedal gait with diagonal walking
  • Delayed psychomotor and language development
  • Aplasia of the inferior half of the cerebellar vermis
  • Dentate nucleus atrophy
  • Cerebral atrophy
  • Cerebellar atrophy
  • Hypoplasia of corpus callosum
  • Short stature
  • Forward flexed head
  • Thoracic kyphosis or scoliosis
  • Small hands and feet
  • Coarse facial features
  • Short and wide nape
  • Strabismus

The onset of this disease is in infancy.

Congenital hydrocephalus 3 has been reported in some individuals with autosomal recessive mutations in WDR81. The clinical features are apparent in utero and include:

  • Hydrocephalus
  • Ventriculomegaly
  • Hydranencephaly
  • Polyhydramnios
  • Hypoplastic or absent cerebellum
  • Holoprosencephaly
  • Dandy-Walker malformation
  • Macrocephaly
  • Dysmorphic facial features