congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome

Findings

No curated finding names congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

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.

Where it sits

A kind of

• central nervous system malformation
• congenital nervous system disorder
• multiple congenital anomalies/dysmorphic syndrome-intellectual disability
• syndromic disease

Resolves to: congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome

Also called

congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome