Developmental and epileptic encephalopathy 76

Preferred Label : Developmental and epileptic encephalopathy 76;

Symbol : DEE76;

CISMeF acronym : EIEE76;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Developmental delay, epileptic encephalopathy, cerebral atrophy, and abnormal myelination; DECAM; EIEE76; Epileptic encephalopathy, early infantile, 76;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the actin-like 6B gene (ACTL6B, 612458.0001);

Prefixed ID : #618468;

Details

Origin ID

618468;

UMLS CUI

C5193113;

Currated CISMeF NLP mapping
- Developmental and Epileptic Encephalopathy 76 [NCIt concept]
- developmental and epileptic encephalopathy 76 [DO Concept]
Genes related to phenotype
- Actin-like 6b [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Death in childhood [HPO term]
- Delayed CNS myelination [HPO term]
- Feeding difficulties in infancy [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Inability to walk [HPO term]
- Intellectual disability [HPO term]
- Lower limb spasticity [HPO term]
- Microcephaly [HPO term]
- Multifocal epileptiform discharges [HPO term]
- Periventricular white matter hyperintensities [HPO term]
- Seizure [HPO term]
- Severe global developmental delay [HPO term]
- Upper limb spasticity [HPO term]
ORDO concept(s)
- Non-specific early-onset epileptic encephalopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Developmental and Epileptic Encephalopathy 76 [NCIt concept]

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