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Early-onset epileptic encephalopathy and intellectual deficit due to GRIN2A mutation
1 OMIM reference -
1 associated gene
9 connected diseases
No signs/symptoms info
Disease Type of connection
Benign familial epilepsy of childhood with rolandic spikes
Epileptic encephalopathy with continuous spike-and-wave during sleep
Landau-Kleffner syndrome
Rolandic epilepsy - speech dyspraxia
X-linked non-syndromic intellectual deficit
Autosomal dominant nonsyndromic intellectual deficit
Severe intellectual deficit and progressive spastic paraplegia
Autosomal dominant macrothrombocytopenia
X-linked intellectual deficit, Najm type
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
GRIN2A Q12879138253
No signs/symptoms info available.