Developmental and epileptic encephalopathy 90

Preferred Label : Developmental and epileptic encephalopathy 90;

Symbol : DEE90;

Type : Phenotype, molecular basis known;

Prefixed ID : #301058;

Détails

Origin ID

301058;

UMLS CUI

C5542345;

Genes related to phenotype
- Fibroblast growth factor 13 [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Ankle clonus [HPO term]
- Apneic episodes in infancy [HPO term]
- Atrial septal defect [HPO term]
- Autistic behavior [HPO term]
- Babinski sign [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Cerebral atrophy [HPO term]
- Constipation [HPO term]
- Developmental regression [HPO term]
- EEG with burst suppression [HPO term]
- Fetal pyelectasis [HPO term]
- Focal impaired awareness seizure [HPO term]
- Focal-onset seizure [HPO term]
- Hypothyroidism [HPO term]
- Hypotonia [HPO term]
- Hypsarrhythmia [HPO term]
- Infantile onset [HPO term]
- Limb hypertonia [HPO term]
- Neonatal onset [HPO term]
- Profound global developmental delay [HPO term]
- Severe global developmental delay [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Non-specific early-onset epileptic encephalopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

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