Hypomyelinating Leukodystrophy-18

Preferred Label : Hypomyelinating Leukodystrophy-18;

NCIt synonyms : HLD18;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the DEGS1 gene, encoding sphingolipid delta(4)-desaturase DES1. It is characterized by the onset of global developmental delay usually in early infancy. Affected individuals may also have poor psychomotor development, poor or absent speech, dystonia, and spasticity.;

Details

Origin ID

C215053;

Has associated anatomic sites
- Nervous System [NCIt concept]
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- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
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- Nervous System [NCIt concept]
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- DEGS1 Gene [NCIt concept]

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