early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

Findings

No curated finding names early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy 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

Congenital onset · Infantile 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

• congenital nervous system disorder
• inherited neurodegenerative disorder
• Mendelian encephalopathy
• multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Resolves to: early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

Also called

encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosumencephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum; PEBATPEBAT