Developmental and epileptic encephalopathy 16

Preferred Label : Developmental and epileptic encephalopathy 16;

Symbol : DEE16;

CISMeF acronym : EIEE16;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 16; EIEE16;

Description : Early infantile epileptic encephalopathy-16 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the first weeks or months of life. Seizures can be of various types, are unresponsive to medication, last for long periods of time, and occur frequently. Affected infants show psychomotor regression or lack of psychomotor development, as well as other neurologic features such as extrapyramidal signs and hypotonia. Most die in childhood (summary by Duru et al., 2010 and Milh 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 TBC1 domain family, member 24 gene (TBC1D24, 613577.0004);

Prefixed ID : #615338;

Details

Origin ID

615338;

UMLS CUI

C3809173;

Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 16 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 16 [DO Concept]
Genes related to phenotype
- Tbc1 domain family, member 24 [OMIM gene]
HPO term(s)
- Abnormality of extrapyramidal motor function [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Delayed myelination [HPO term]
- Developmental regression [HPO term]
- Dystonia [HPO term]
- Epileptic encephalopathy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hemiparesis [HPO term]
- Microcephaly [HPO term]
- Myoclonus [HPO term]
- Optic atrophy [HPO term]
- Progressive [HPO term]
- Psychomotor retardation [HPO term]
- Secondary microcephaly [HPO term]
- Severe muscular hypotonia [HPO term]
- Status epilepticus [HPO term]
- Visual loss [HPO term]
ORDO concept(s)
- Malignant migrating focal seizures of infancy [ORDO Disease]
- Progressive myoclonic epilepsy with dystonia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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