Huppke-Brendel syndrome

Findings

No curated finding names Huppke-Brendel syndrome 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

Infantile onset · Progressive · 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

• hereditary disease

Resolves to: Huppke-Brendel syndrome

Also called

acetyl CoA transporter deficiencycongenital cataract-deafness-severe developmental delay syndromecongenital cataracts, hearing loss, and neurodegenerationlethal neurodegenerative disorder due to copper transport defect