X-linked Opitz G/BBB syndrome

Findings

No curated finding names X-linked Opitz G/BBB syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

X-linked recessive 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

• Opitz G/BBB syndrome
• X-linked disease

Resolves to: X-linked Opitz G/BBB syndrome

Also called

Opitz G/BBB syndrome, X-linkedOpitz GBBB syndrome, type I, X-linked recessiveX-linked Opitz BBB/G syndromeX-linked Opitz syndromeXLOS