developmental and epileptic encephalopathy, 1

Findings

No curated finding names developmental and epileptic encephalopathy, 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

X-linked recessive inheritance

Onset and course

Congenital 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

• genetic developmental and epileptic encephalopathy
• infantile spasms

Resolves to: developmental and epileptic encephalopathy, 1

Also called

ARX early infantile epileptic encephalopathyDEE1developmental and epileptic encephalopathy 1, X-linked recessiveearly infantile epileptic encephalopathy caused by mutation in ARXEIEE1epileptic encephalopathy, early infantile, 1epileptic encephalopathy, early infantile, type 1