Glycerol kinase deficiency - contiguous gene syndrome (Q98873)
From determinar.ia.br - Determine suas informações
This is an X-linked recessive enzyme defect that is heterozygous in nature. Three clinically distinct forms of this deficiency have been proposed, namely infantile, juvenile, and adult. This diagnosis is with a syndrome caused by abnormalities of 2 or more genes that are located next to each other on a chromosome.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_833383989 |
||
| English | Glycerol kinase deficiency - contiguous gene syndrome |
This is an X-linked recessive enzyme defect that is heterozygous in nature. Three clinically distinct forms of this deficiency have been proposed, namely infantile, juvenile, and adult. This diagnosis is with a syndrome caused by abnormalities of 2 or more genes that are located next to each other on a chromosome. |
Statements
CID11:ID_833383989
0 references
dki-india-ID_833383989
0 references
Concluído
0 references
