PAX6-related ocular dysgenesis

Findings

No curated finding names PAX6-related ocular dysgenesis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

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

• eye carcinoma
• hereditary neurological disease
• hereditary renal cell carcinoma
• SMARCB1-deficient kidney medullary carcinoma

Narrower terms (2)

• foveal hypoplasia 1
• isolated optic nerve hypoplasia