Developmental and epileptic encephalopathy 44

Preferred Label : Developmental and epileptic encephalopathy 44;

Symbol : DEE44;

CISMeF acronym : EIEE44;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 44; EIEE44;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ubiquitin like modifier activating enzyme 5 gene (UBA5, 610552.0001);

Prefixed ID : #617132;

Details

Origin ID

617132;

UMLS CUI

C4310700;

Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 44 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 44 [DO Concept]
Genes related to phenotype
- Ubiquitin-like modifier-activating enzyme 5 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Athetosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Delayed myelination [HPO term]
- Dystonia [HPO term]
- Encephalopathy [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intellectual disability, severe [HPO term]
- Irritability [HPO term]
- Mask-like facies [HPO term]
- Poor eye contact [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Spasticity [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 44 [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients