progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome

Findings

No curated finding names progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior 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 · 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

• hereditary neurological disease
• inborn disorder of amino acid transport
• movement disorder

Resolves to: progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome

Also called

intellectual disability, autosomal recessive type 48mental retardation, autosomal recessive type 48