Developmental and epileptic encephalopathy 89

Preferred Label : Developmental and epileptic encephalopathy 89;

Symbol : DEE89;

Type : Phenotype, molecular basis known;

Prefixed ID : #619124;

Details

Origin ID

619124;

UMLS CUI

C5436853;

Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 89 [DO Concept]
Genes related to phenotype
- Glutamate decarboxylase 1 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Asymmetry of the ears [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure with generalized onset [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Cleft palate [HPO term]
- Clitoral hypertrophy [HPO term]
- Death in childhood [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dystonia [HPO term]
- EEG with burst suppression [HPO term]
- Epileptic spasm [HPO term]
- Flat face [HPO term]
- Flexion contracture [HPO term]
- Global developmental delay [HPO term]
- Highly arched eyebrow [HPO term]
- Hyperkinetic movements [HPO term]
- Hyperreflexia [HPO term]
- Hypertelorism [HPO term]
- Hypertonia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplastic labia majora [HPO term]
- Hypoplastic labia minora [HPO term]
- Hypsarrhythmia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, profound [HPO term]
- Limb undergrowth [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Microretrognathia [HPO term]
- Myoclonic seizure [HPO term]
- Narrow chest [HPO term]
- Neonatal death [HPO term]
- Neonatal onset [HPO term]
- Omphalocele [HPO term]
- Scoliosis [HPO term]
- Smooth philtrum [HPO term]
- Sparse eyebrow [HPO term]
- Spasticity [HPO term]
- Talipes equinovarus [HPO term]
- Tetraparesis [HPO term]
- Thin upper lip vermilion [HPO term]
- Upslanted palpebral fissure [HPO term]
- Wide nasal bridge [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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