PAX6-related ocular dysgenesis

rare

Any eye disorder in which the cause of the disease is a mutation in the PAX6 gene.

Identifiers: MONDO:0800183
Causal genes: PAX6
Part of: SMARCB1-deficient kidney medullary carcinoma Eye carcinoma Hereditary neurological disease Hereditary renal cell carcinoma

Subtypes

Disease	ID	Subtypes
Foveal hypoplasia 1	MONDO:0007628
Isolated optic nerve hypoplasia	MONDO:0008136

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