linear skin defects with multiple congenital anomalies 3

Findings

No curated finding names linear skin defects with multiple congenital anomalies 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

X-linked dominant inheritance

Onset and course

Congenital onset · Third trimester 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

• linear skin defects with multiple congenital anomalies
• NDUFB11-related disorders

Resolves to: linear skin defects with multiple congenital anomalies 3

Also called

linear skin defects with multiple congenital anomalies 3, X-linked dominantlinear skin defects with multiple congenital anomalies type 3microphthalmia with linear skin defects syndrome caused by mutation in NDUFB11NDUFB11 microphthalmia with linear skin defects syndrome