Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features

Preferred Label : Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features;

Symbol : EPILX2;

Type : Phenotype, molecular basis known;

Prefixed ID : #301091;

Details

Origin ID

301091;

UMLS CUI

C5774178;

Genes related to phenotype
- Gamma-aminobutyric acid receptor, alpha-3 [OMIM gene]
HPO term(s)
- 2-3 toe cutaneous syndactyly [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Childhood onset [HPO term]
- Cleft palate [HPO term]
- Down-sloping shoulders [HPO term]
- Epileptic spasm [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Focal impaired awareness seizure [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Intellectual disability [HPO term]
- Juvenile onset [HPO term]
- Long fingers [HPO term]
- Long neck [HPO term]
- Long nose [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Narrow mouth [HPO term]
- Narrow palpebral fissure [HPO term]
- Nystagmus [HPO term]
- Protruding ear [HPO term]
- Retrognathia [HPO term]
- Short neck [HPO term]
- Synophrys [HPO term]
- Tonic seizure [HPO term]
- X-linked inheritance [HPO term]
- Young adult onset [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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