aniridia-cerebellar ataxia-intellectual disability syndrome

Findings

No curated finding names aniridia-cerebellar ataxia-intellectual disability syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal dominant inheritance · Autosomal recessive inheritance

Onset and course

Congenital onset · Infantile onset

HPO, annotations 2026-09-02

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.

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.

Where it sits

A kind of

• iridogoniodysgenesis
• syndromic disease

Resolves to: aniridia-cerebellar ataxia-intellectual disability syndrome

Also called

Aniridia Cerebellar Ataxia Mental Deficiencyaniridia, cerebellar ataxia and mental deficiencyaniridia, cerebellar ataxia, and intellectual disabilityaniridia, cerebellar ataxia, and mental retardationGILLESPIE syndromeGLSP