has characteristic has characteristic peroxisome biogenesis disorder type 3B https://github.com/monarch-initiative/mondo/issues/2632 https://github.com/monarch-initiative/mondo/issues/7693 https://github.com/monarch-initiative/mondo/issues/9285 https://www.malacards.org/card/peroxisome_biogenesis_disorder_3b MEDGEN:763607 infantile phytanic acid storage disease UMLS:C3550693 peroxisome biogenesis disorder 3B OMIM:266510 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. DOID:0081241 GARD:0015226 MONDO:0009959 PBD3B peroxisome biogenesis disorder due to PEX12 defect non-classic presentation