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Any dysequilibrium syndrome in which the cause of the disease is a mutation in the WDR81 gene.
Features include always present findings: Shrinkage of the cerebellum (cerebellar atrophy) and Global developmental delay; and common findings: Gait ataxia, Ataxia, Intention tremor, and Broad-based gait and others. 32 total HPO annotations.
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:36 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 13 | Gait ataxia, Global brain atrophy, Ataxia |
Muscles | 3 | Shrinkage of the cerebellum (cerebellar atrophy), Global brain atrophy, Atrophy of the dentate nucleus |
Arms and legs | 2 | Short foot, Small hand |
Bones and joints | 2 | Thoracic kyphosis, Thoracic scoliosis |
Eyes | 1 | Strabismus |
Growth and development | 1 | Short stature |
Head and neck | 1 | Coarse facial features |
Ears | 1 | Inner ear hearing loss (sensorineural hearing impairment) |
WDR81 function has not been fully characterized.
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 is associated with mutations in the WDR81 gene on chromosome 17.
Genetic testing for WDR81 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 2 always present features, 6 common features.