pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal

Findings

No curated finding names pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 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

Neonatal death

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

Narrower terms (2)

• lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation
• lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster

Resolves to: pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal

Also called

fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndromefatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome