Version: 8.0.0
Date: Tue Jan 28 2025
congenital glutamine deficiency
DOID:0070544
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

congenital glutamine deficiency

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.
Synonyms
  • congenital systemic glutamine synthase deficiency
  • GLND
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

Gene
Species
Association
Disease Qualifier
Disease
Evidence
Based On
Source
References
No records match query. Try removing filters.
Showing 0 - 0 of 0 rows
per page

    Associated Alleles

    Allele
    Species
    Association
    Disease Qualifier
    Disease
    Evidence
    Source
    References
    No records match query. Try removing filters.
    Showing 0 - 0 of 0 rows
    per page

      Associated Models

      Model
      Species
      Experimental condition
      Association
      Disease Qualifiers
      Disease
      Condition Modifier
      Genetic Modifier
      Evidence
      Source
      References
      No records match query. Try removing filters.
      Showing 0 - 0 of 0 rows
      per page