developmental and epileptic encephalopathy, 9
Findings
No curated finding names developmental and epileptic encephalopathy, 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.
Definition from the Mondo Disease Ontology (MONDO:0010246), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
9 features
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.
- Bilateral tonic-clonic seizure with generalized onsetHPOHP:0025190
- 2 of 3 reported patients
- Focal hemiclonic seizureHPOHP:0006813
- 2 of 3 reported patients
- Atonic seizureHPOHP:0010819
- 1 of 3 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 3 reported patients
- Autistic behaviorHPOHP:0000729
- 1 of 3 reported patients
- Convulsive status epilepticusHPO
Genes
1 gene
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.
- PCDH19HGNC:14270
- Definitive · Ambry Genetics · X-linked · 2018
- Definitive · G2P · X-linked · 2015
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
Where it sits
Other names
13 names
Resolves to: developmental and epileptic encephalopathy, 9
- Also called
- DEE9developmental and epileptic encephalopathy 9early infantile epileptic encephalopathy caused by mutation in PCDH19early infantile epileptic encephalopathy type 9EFMREIEE9epileptic encephalopathy, early infantile, 9epileptic encephalopathy, early infantile, type 9familial epilepsy and intellectual disability limited to femalesfamilial epilepsy and mental retardation limited to femalesfemale restricted epilepsy with intellectual disabilityJuberg-Hellman syndromePCDH19 early infantile epileptic encephalopathy