developmental and epileptic encephalopathy, 27

Findings

No curated finding names developmental and epileptic encephalopathy, 27 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

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
• GRIN2B-related complex neurodevelopmental disorder
• infantile spasms

Resolves to: developmental and epileptic encephalopathy, 27

Also called

DEE27developmental and epileptic encephalopathy 27early infantile epileptic encephalopathy caused by mutation in GRIN2BEIEE27epileptic encephalopathy, early infantile, 27epileptic encephalopathy, early infantile, type 27GRIN2B early infantile epileptic encephalopathy