Search Ontology:
Human Disease

congenital glutamine deficiency

Term ID
DOID:0070544
Synonyms
  • congenital systemic glutamine synthase deficiency
  • GLND
Definition
An amino acid metabolic disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities that has_material_basis_in homozygous mutation in the GLUL gene on chromosome 1q25.3. https://pubmed.ncbi.nlm.nih.gov/21353613/
References
Ontology
Human Disease   ( DOID:0070544 )
Relationships
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Genes Involved
Zebrafish Models