Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 12-04-2014

Symbol	DK1D
Location	9q34.11
Name	dolichol kinase deficiency
Corresponding gene	DOLK
Main clinical features	microcephaly developed within the first months of life, skin dry, thin, and parchmentlike; at electron microscopy of a skin biopsy, hyperkeratosis seizures due to hypsarrhythmia with muscular hypotonia and tetraplegia developed rapidly, progressive bilateral nystagmus at sonography of the brain, no abnormalities, and cardiac ultrasound normal; early death
Genetic determination	autosomal recessive
Function/system disorder	metabolism/carbohydrates
	metabolism/lipoprotein-lipid
Type	disease

Remark(s)