Renpenning syndrome

Findings

No curated finding names Renpenning 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

Death in childhood

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

• X-linked syndromic intellectual disability

Narrower terms (4)

• hamel cerebro-palato-cardiac syndrome
• X-linked intellectual disability, Golabi-Ito-hall type
• X-linked intellectual disability, Porteous type
• X-linked intellectual disability, Sutherland-Haan type

Resolves to: Renpenning syndrome

Also called

Golabi-Ito-Hall syndromeRenpenning syndrome type 1renpenning syndrome, X-linked recessiveSutherland-Haan X-linked intellectual disability syndromeSutherland-Haan X-linked mental retardation syndromesyndromic X-linked intellectual disability 8X-linked intellectual disability due to PQBP1 mutationsX-linked intellectual disability Renpenning typeX-linked intellectual disability with spastic diplegiaX-linked intellectual disability, Renpenning type