congenital cataracts-facial dysmorphism-neuropathy syndrome

Findings

No curated finding names congenital cataracts-facial dysmorphism-neuropathy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal recessive inheritance

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

• autosomal recessive degenerative and progressive cerebellar ataxia
• congenital nervous system disorder
• multiple congenital anomalies/dysmorphic syndrome-intellectual disability
• partial duplication of the short arm of chromosome 16

Resolves to: congenital cataracts-facial dysmorphism-neuropathy syndrome

Also called

CCFDN