Dolichol kinase deficiency | |
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Other names | Hypotonia and ichthyosis due to dolichol phosphate deficiency[1] |
This condition is inherited in an autosomal recessive manner. |
Dolichol kinase deficiency is a cutaneous condition caused by a mutation in the dolichol kinase gene.[2][3]
It is also known as Congenital disorder of glycosylation 1m.