Search Ontology:
Human Disease
congenital glutamine deficiency
- Term ID
- DOID:0070544
- Synonyms
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- 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
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- GARD:9848
- MIM:610015
- ORDO:71278
- Ontology
- Human Disease ( DOID:0070544 )
- is a type of
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Genes Involved
Zebrafish Models