Developmental and epileptic encephalopathy 98

Preferred Label : Developmental and epileptic encephalopathy 98;

Symbol : DEE98;

Type : Phenotype, molecular basis known;

Prefixed ID : #619605;

Détails

Origin ID

619605;

UMLS CUI

C5562017;

Genes related to phenotype
- Atpase, na+/k+ transporting, alpha-2 polypeptide [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Bilateral tonic-clonic seizure with focal onset [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Childhood onset [HPO term]
- Clonic seizure [HPO term]
- Death in childhood [HPO term]
- Death in infancy [HPO term]
- EEG with burst suppression [HPO term]
- Focal-onset seizure [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Juvenile onset [HPO term]
- Neonatal onset [HPO term]
- Perisylvian polymicrogyria [HPO term]
- Poor eye contact [HPO term]
- Refractory status epilepticus [HPO term]
- Secondary microcephaly [HPO term]
- Sleep apnea [HPO term]
- Thick corpus callosum [HPO term]
- Thin corpus callosum [HPO term]
ORDO concept(s)
- Non-specific early-onset epileptic encephalopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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