| Metadata | |
|---|---|
| ID | DOID:0070544 |
| Name | 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. https://pubmed.ncbi.nlm.nih.gov/21353613/ |
| Xrefs | |
| SKOS |
exactMatch MIM:610015 exactMatch GARD:9848 exactMatch ORDO:71278 |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital systemic glutamine synthase deficiency [EXACT] GLND [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |