| Main clinical features
|
dolichol kinase deficiency
weight, body length, and head circumference were within the normal range at birth but were below the 3rd percentile a few months later
hyperkeratosis, minimal hair growth, seizures started early, muscular hypotonia and tetraplegia developed rapidly, with progressive bilateral nystagmus
muscular hypotonia at birth, and progressive dilated cardiomyopathy with dry, ichthyosiform skin occurred at the bend of the elbow, the hollow of the knee, and the scalp (PMID: 22242004))
. early death |