childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

Findings

No curated finding names childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 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

Infantile onset · Childhood 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

• central nervous system malformation
• congenital nervous system disorder
• hereditary neurological disease
• movement disorder
• multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Resolves to: childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

Also called

UBTF-related disorder