Developmental and epileptic encephalopathy 91

Preferred Label : Developmental and epileptic encephalopathy 91;

Symbol : DEE91;

CISMeF acronym : IECEE1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : IECEE1; Epileptic encephalopathy, infantile or early childhood, 1;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the protein phosphatase 3, catalytic subunit, alpha isoform gene (PPP3CA, 114105.0001);

Prefixed ID : #617711;

Détails

Origin ID

617711;

UMLS CUI

C4540199;

Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 91 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 91 [DO Concept]
Genes related to phenotype
- Protein phosphatase 3, catalytic subunit, alpha isoform [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Cerebral visual impairment [HPO term]
- Delayed myelination [HPO term]
- Developmental regression [HPO term]
- Epileptic encephalopathy [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Hypsarrhythmia [HPO term]
- Intellectual disability [HPO term]
- Multifocal epileptiform discharges [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Talipes [HPO term]
- Unsteady gait [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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