chromosome 17P13.3, telomeric, duplication syndrome

Findings

No curated finding names chromosome 17P13.3, telomeric, duplication 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.

Where it sits

A kind of

• non-syndromic limb reduction defect
• tibial aplasia-ectrodactyly syndrome