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GTR Home > Conditions/Phenotypes > Congenital brain dysgenesis due to glutamine synthetase deficiency

Congenital brain dysgenesis due to glutamine synthetase deficiency

Synonyms
GLUTAMINE SYNTHASE DEFICIENCY, CONGENITAL SYSTEMIC; Glutamine deficiency, congenital; Glutamine synthetase deficiency, congenital systemic
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Congenital glutamine deficiency is a severe autosomal recessive disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities (summary by Haberle et al., 2011). [from OMIM]

Available tests

22 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE116, GLNS, GS, PIG43, PIG59, GLUL
    Summary: glutamate-ammonia ligase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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