Developmental and epileptic encephalopathy 2

Preferred Label : Developmental and epileptic encephalopathy 2;

Symbol : DEE2;

CISMeF acronym : EIEE2; ISSX2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Infantile spasm syndrome, X-linked 2; ISSX2; Epileptic encephalopathy, early infantile, 2; EIEE2;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the cyclin-dependent kinase-like 5 gene (CDKL5, 300203.0001);

Prefixed ID : #300672;

Détails

Origin ID

300672;

UMLS CUI

C4750718;

Currated CISMeF NLP mapping
- CDKL5 deficiency disorder [MedDRA Preferred Term]
- CDKL5 deficiency disorder [MeSH concept]
- CDKL5 deficiency disorder [MeSH Supplementary Concept]
- CDKL5-deficiency disorder [ORDO Disease]
- Cyclin-dependent kinase-like 5 deficiency (disorder) [SNOMED CT concept]
- Developmental and Epileptic Encephalopathy 2 [NCIt concept]
- developmental and epileptic encephalopathy 2 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 2 [DO Concept]
Genes related to phenotype
- Cyclin-dependent kinase-like 5 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Broad forehead [HPO term]
- Cerebral visual impairment [HPO term]
- Constipation [HPO term]
- Deeply set eye [HPO term]
- Developmental regression [HPO term]
- EEG with generalized slow activity [HPO term]
- Epileptic encephalopathy [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Generalized myoclonic seizure [HPO term]
- Generalized-onset seizure [HPO term]
- Global developmental delay [HPO term]
- Hyperventilation [HPO term]
- Hypotonia [HPO term]
- Hypsarrhythmia [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Infantile spasms [HPO term]
- Intellectual disability, profound [HPO term]
- Multifocal seizures [HPO term]
- Myoclonus [HPO term]
- Poor eye contact [HPO term]
- Progressive microcephaly [HPO term]
- Prominent forehead [HPO term]
- Psychomotor regression [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short foot [HPO term]
- Small feet [HPO term]
- Small hand [HPO term]
- Tapered finger [HPO term]
- Thick lower lip vermilion [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- Atypical Rett syndrome [ORDO Disease]
- CDKL5-deficiency disorder [ORDO Disease]
- Early infantile epileptic encephalopathy [ORDO Disease]
- Infantile spasms syndrome [ORDO Disease]
See also inter- (CISMeF)
- cyclin dependent kinase like 5 [ORDO Gene]
- cyclin dependent kinase like 5 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CDKL5 deficiency disorder [MeSH Supplementary Concept]
- CDKL5 deficiency disorder [MeSH concept]
- CDKL5 deficiency disorder [MedDRA Preferred Term]
- Cyclin-dependent kinase-like 5 deficiency (disorder) [SNOMED CT concept]
- Developmental and Epileptic Encephalopathy 2 [NCIt concept]

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

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