peroxisome biogenesis disorder type 3B
A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation.
MONDO:0100266
peroxisome biogenesis disorder due to PEX12 defect
is_a
PBD3B
related
infantile phytanic acid storage disease
exact
peroxisome biogenesis disorder 3B
exact
peroxisome biogenesis disorder type 3B
exact
SPAPB17E12.03