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