developmental and epileptic encephalopathy, 29

Findings

No curated finding names developmental and epileptic encephalopathy, 29 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

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

• AARS1-related leukoencephalopathy
• neonatal-onset developmental and epileptic encephalopathy
• undetermined early-onset epileptic encephalopathy

Resolves to: developmental and epileptic encephalopathy, 29

Also called

AARS early infantile epileptic encephalopathyDEE29developmental and epileptic encephalopathy 29early infantile epileptic encephalopathy caused by mutation in AARSEIEE29epileptic encephalopathy, early infantile, 29epileptic encephalopathy, early infantile, type 29