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Epileptic encephalopathy with global cerebral demyelination
1 OMIM reference -
1 associated gene
7 connected diseases
No signs/symptoms info
Disease Type of connection
Microcephaly - seizures - developmental delay
Aneurysm - osteoarthritis syndrome
Burkitt lymphoma
Familial thoracic aortic aneurysm and aortic dissection
Precursor T-cell acute lymphoblastic leukemia
Huntington disease
Juvenile Huntington disease
Synonym(s):
- Mitochondrial aspartate-glutamate carrier 1 deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SLC25A12 O75746603667
No signs/symptoms info available.