growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy

Findings

No curated finding names growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal recessive inheritance

Onset and course

Antenatal onset · Second 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

• autosomal recessive disease
• syndromic disease

Resolves to: growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy

Also called

GRIDHHgrowth retardation, impaired intellectual development, hypotonia, and hepatopathygrowth retardation, intellectual developmental disorder, hypotonia, and hepatopathy; GRIDHH