Developmental and epileptic encephalopathy 83

Preferred Label : Developmental and epileptic encephalopathy 83;

Symbol : DEE83;

CISMeF acronym : EIEE83;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Barakat-perenthaler syndrome; EIEE83; Epileptic encephalopathy, early infantile, 83;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the uridyl diphosphate glucose pyrophosphorylase 2 gene (UGP2, 191760.0001);

Prefixed ID : #618744;

Détails

Origin ID

618744;

UMLS CUI

C5231487;

Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 83 [DO Concept]
Genes related to phenotype
- Uridyl diphosphate glucose pyrophosphorylase 2 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral cortical atrophy [HPO term]
- Chronic constipation [HPO term]
- Depressed nasal bridge [HPO term]
- Developmental regression [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties in infancy [HPO term]
- Frontal bossing [HPO term]
- Genu valgum [HPO term]
- High anterior hairline [HPO term]
- Highly arched eyebrow [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplasia of the fovea [HPO term]
- Intellectual disability, profound [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Narrow forehead [HPO term]
- Nystagmus [HPO term]
- Persistent head lag [HPO term]
- Poor eye contact [HPO term]
- Poor suck [HPO term]
- Recurrent respiratory infections [HPO term]
- Seizure [HPO term]
- Severe global developmental delay [HPO term]
- Sloping forehead [HPO term]
- Spasticity [HPO term]
- Synophrys [HPO term]
- Tetraparesis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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