Glycerol kinase deficiency - contiguous gene syndrome (Q98873): Difference between revisions
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Revision as of 15:31, 16 August 2026
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 |
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| default for all languages | ID_833383989 |
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| 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. |
