Developmental and epileptic encephalopathy 80

Preferred Label : Developmental and epileptic encephalopathy 80;

Symbol : DEE80;

CISMeF acronym : EIEE80;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glycosylphosphatidylinositol biosynthesis defect 20; GPIBD20; Epileptic encephalopathy, early infantile, 80; EIEE80;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phosphatidylinositol glycan anchor biosynthesis class B protein gene (PIGB, 604122.0001);

Laboratory abnormalities : Increased serum alkaline phosphatase; Increased 2-oxoglutaric acid (1 family);

Prefixed ID : #618580;

Details

Origin ID

618580;

UMLS CUI

C5231418;

Automatic exact mappings (from CISMeF team)
- Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 [NCIt concept]
Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 80 [DO Concept]
Genes related to phenotype
- Phosphatidylinositol glycan anchor biosynthesis class b protein [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Abnormal visual fixation [HPO term]
- Abnormality of the pinna [HPO term]
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Coarse facial features [HPO term]
- Death in infancy [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Full cheeks [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hyporeflexia [HPO term]
- Increased urine alpha-ketoglutarate concentration [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Narrow forehead [HPO term]
- Optic disc pallor [HPO term]
- Overfolded helix [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Pointed chin [HPO term]
- Polymicrogyria [HPO term]
- Posteriorly rotated ears [HPO term]
- Proptosis [HPO term]
- Protruding tongue [HPO term]
- Seizure [HPO term]
- Sensorimotor neuropathy [HPO term]
- Short distal phalanx of finger [HPO term]
- Small nail [HPO term]
- Smooth philtrum [HPO term]
- Talipes equinovarus [HPO term]
- Tapered finger [HPO term]
- Tented upper lip vermilion [HPO term]
- Triphalangeal thumb [HPO term]
- Uplifted earlobe [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventriculomegaly [HPO term]
- Visual impairment [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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