Developmental and epileptic encephalopathy 25 with amelogenesis imperfecta

Preferred Label : Developmental and epileptic encephalopathy 25 with amelogenesis imperfecta;

Symbol : DEE25;

CISMeF acronym : EIEE25;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta; EIEE25;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 13 (sodium-dependent citrate transporter), member 5 gene (SLC13A5, 608305.0001);

Prefixed ID : #615905;

Details

Origin ID

615905;

UMLS CUI

C4014621;

CISMeF manual mappings
- Developmental and Epileptic Encephalopathy 25 [NCIt concept]
Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 25 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 25 [DO Concept]
Genes related to phenotype
- Solute carrier family 13 (sodium-dependent citrate transporter), member 5 [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Amelogenesis imperfecta [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Delayed eruption of teeth [HPO term]
- Delayed myelination [HPO term]
- Epileptic encephalopathy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypodontia [HPO term]
- Involuntary movements [HPO term]
- Microcephaly [HPO term]
- Multifocal seizures [HPO term]
- Spasticity [HPO term]
- Status epilepticus [HPO term]
ORDO concept(s)
- Non-specific early-onset epileptic encephalopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Developmental and Epileptic Encephalopathy 25 [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients