autosomal dominant popliteal pterygium syndrome

Findings

No curated finding names autosomal dominant popliteal pterygium syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal dominant inheritance

Onset and course

Congenital 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

• autosomal dominant disease
• multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
• popliteal pterygium syndrome

Resolves to: autosomal dominant popliteal pterygium syndrome

Also called

popliteal pterygium syndrome 1popliteal pterygium syndrome, autosomal dominantpopliteal web syndrome