Zellweger syndrome

Also known as: Cerebrohepatorenal syndrome

Peroxisome biogenesis disorder with hypotonia and liver disease.

Medical specialty: Genetics
Subspecialty: Genetics / Peroxisomal disorders
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, neonatal
Gene(s) involved: PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6

Etiology & mechanism

Defective peroxisome assembly.

Gene(s) involved (12)

PEX1PEX10PEX12PEX13PEX14PEX16PEX19PEX2PEX26PEX3PEX5PEX6

Symptoms & signs (7)

cataractshepatomegalyhigh foreheadhypotoniarenal cystsseizuresstippled epiphyses

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.