Developmental and epileptic encephalopathy 87

Preferred Label : Developmental and epileptic encephalopathy 87;

Symbol : DEE87;

CISMeF acronym : EIEE87;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EIEE87; Epileptic encephalopathy, early infantile, 87;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cyclin-dependent kinase 19 gene (CDK19, 614720.0001);

Prefixed ID : #618916;

Details

Origin ID

618916;

UMLS CUI

C5394501;

Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 87 [DO Concept]
Genes related to phenotype
- Cyclin-dependent kinase 19 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bulbous nose [HPO term]
- Cerebral atrophy [HPO term]
- Delayed CNS myelination [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Horizontal eyebrow [HPO term]
- Hypertelorism [HPO term]
- Hypertonia [HPO term]
- Hypotelorism [HPO term]
- Hypsarrhythmia [HPO term]
- Infantile spasms [HPO term]
- Intellectual disability [HPO term]
- Midface retrusion [HPO term]
- Prominent nose [HPO term]
- Recurrent hand flapping [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Single transverse palmar crease [HPO term]
- U-Shaped upper lip vermilion [HPO term]
- Wide mouth [HPO term]
- Widely spaced teeth [HPO term]
ORDO concept(s)
- Non-specific early-onset epileptic encephalopathy [ORDO Disease]
See also inter- (CISMeF)
- CDK19 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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