PHARC syndrome
Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0015905
syndromic dyslipidemia
is_a
MONDO:0018117
disorder of phospholipids, sphingolipids and fatty acids biosynthesis
is_a
MONDO:0020127
hereditary peripheral neuropathy
is_a
PHARC
related
PHARC syndrome
exact
peripheral neuropathy, Fiskerstrand type
exact
polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
related