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peroxisome biogenesis disorder 14B

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description An autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy. Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, are observed.
Mondo Term and Equivalent IDs
MONDO:0013967:  peroxisome biogenesis disorder 14B
UMLS:C3554055: