developmental and epileptic encephalopathy, 47

Findings

No curated finding names developmental and epileptic encephalopathy, 47 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 · 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

• neonatal-onset developmental and epileptic encephalopathy
• undetermined early-onset epileptic encephalopathy

Resolves to: developmental and epileptic encephalopathy, 47

Also called

DEE47developmental and epileptic encephalopathy 47early infantile epileptic encephalopathy caused by mutation in FGF12EIEE47epileptic encephalopathy, early infantile, 47epileptic encephalopathy, early infantile, 47; EIEE47epileptic encephalopathy, early infantile, type 47FGF12 early infantile epileptic encephalopathy