developmental and epileptic encephalopathy, 23

Findings

No curated finding names developmental and epileptic encephalopathy, 23 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

• congenital nervous system disorder
• genetic developmental and epileptic encephalopathy
• monogenic epilepsy
• multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Resolves to: developmental and epileptic encephalopathy, 23

Also called

developmental and epileptic encephalopathy 23early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndromeEIEE23epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndromeepileptic encephalopathy, early infantile, 23epileptic encephalopathy, early infantile, type 23