Developmental and epileptic encephalopathy 18

Preferred Label : Developmental and epileptic encephalopathy 18;

Symbol : DEE18;

CISMeF acronym : EIEE18;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 18; EIEE1;

Description : Early infantile epileptic encephalopathy-18 is a severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, early onset of refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging (summary by Basel-Vanagaite et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the SZT2 subunit of KICSTOR complex gene (SZT2, 615463.0001);

Prefixed ID : #615476;

Details

Origin ID

615476;

UMLS CUI

C3809624;

Automatic exact mappings (from CISMeF team)
- Developmental and Epileptic Encephalopathy 1 [NCIt concept]
Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 18 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 18 [DO Concept]
Genes related to phenotype
- Szt2 subunit of kicstor complex [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Downslanted palpebral fissures [HPO term]
- EEG abnormality [HPO term]
- Epileptic encephalopathy [HPO term]
- Focal-onset seizure [HPO term]
- Generalized hypotonia [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Generalized-onset seizure [HPO term]
- Global developmental delay [HPO term]
- High forehead [HPO term]
- Highly arched eyebrow [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Ptosis [HPO term]
- Thick corpus callosum [HPO term]
ORDO concept(s)
- Non-specific early-onset epileptic encephalopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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