cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
Findings
No curated finding names cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any dysequilibrium syndrome in which the cause of the disease is a mutation in the WDR81 gene.
Definition from the Mondo Disease Ontology (MONDO:0012430), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cerebellar atrophyHPOHP:0001272
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- AtaxiaHPOHP:0001251
- 1 of 2 reported patients
- Broad-based gaitHPOHP:0002136
- 1 of 2 reported patients
- Delayed ability to walkHPOHP:0031936
- 1 of 2 reported patients
- Gait ataxiaHPOHP:0002066
- 1 of 2 reported patients
- Intention tremorHPOHP:0002080
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- WDR81HGNC:26600
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · G2P · Autosomal recessive · 2016
Where it sits
Other names
5 names
Resolves to: cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
- Also called
- cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 2cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 2dysequilibrium syndrome caused by mutation in WDR81WDR81 dysequilibrium syndrome