Neurodevelopmental disorder with or without early-onset generalized epilepsy

Preferred Label : Neurodevelopmental disorder with or without early-onset generalized epilepsy;

Symbol : NEDEGE;

Type : Phenotype, molecular basis known;

Prefixed ID : #619157;

Details

Origin ID

619157;

UMLS CUI

C5436914;

Genes related to phenotype
- Neurobeachin [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Broad-based gait [HPO term]
- Childhood onset [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Developmental regression [HPO term]
- Dystonia [HPO term]
- Eczema [HPO term]
- Focal-onset seizure [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Interictal epileptiform activity [HPO term]
- Microcephaly [HPO term]
- Myoclonic seizure [HPO term]
- Recurrent infections [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Non-specific syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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