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Congenital brain dysgenesis due to glutamine synthetase deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Sporadic Leigh syndrome
1 OMIM reference -
3 associated genes
No signs/symptoms info
Congenital brain dysgenesis due to glutamine synthetase deficiency
Sporadic Leigh syndrome

GLUL
(UniProt - OMIM)
 MT-ND3
(UniProt - OMIM)
MT-ND5
(UniProt - OMIM)
MT-ND6
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
GLUL
(0.63)
MT-ND5


Citations in the biomedical literature:


Congenital brain dysgenesis due to glutamine synthetase deficiency
GLUL
Sporadic Leigh syndrome
MT-ND3 MT-ND5 MT-ND6



Congenital brain dysgenesis due to glutamine synthetase deficiency
Sporadic Leigh syndrome

Synonym(s):
- Inherited GS deficiency
- Inherited glutamine synthetase deficiency
Synonym(s):
- Sporadic Leigh disease
- Sporadic infantile subacute necrotizing encephalopathy
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.