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Congenital brain dysgenesis due to glutamine synthetase deficiency
1 OMIM reference -
1 associated gene
12 connected diseases
No signs/symptoms info
Disease Type of connection
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Autosomal dominant spastic paraplegia type 13
Boomerang dysplasia
Leber hereditary optic neuropathy
MELAS syndrome
MERRF syndrome
Maternally-inherited Leigh syndrome
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Spondylocarpotarsal synostosis
Sporadic Leigh syndrome
Synonym(s):
- Inherited GS deficiency
- Inherited glutamine synthetase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
GLUL P15104138290
No signs/symptoms info available.