hereditary cryohydrocytosis with reduced stomatin

Findings

No curated finding names hereditary cryohydrocytosis with reduced stomatin 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

Neonatal 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 dominant syndromic intellectual disability
• disorder of carbohydrate transmembrane transport and absorption
• familial hemolytic anemia
• hereditary stomatocytosis

Resolves to: hereditary cryohydrocytosis with reduced stomatin

Also called

ChC type 2hereditary cryohydrocytosis type 2sdCHCstomatin-deficient cryohydrocytosis