Catalog

Zellweger-like syndrome without peroxisomal anomalies

No MMS code

Link to WHO Definition

Zellweger-like syndrome without peroxisomal anomalies – http://id.who.int/icd/entity/697302760

Zellweger-like syndrome with normal peroxisomal function is a rare syndrome characterised by facial dysmorphism, profound hypotonia, intellectual deficit, and metabolic anomalies. Clinical manifestations resemble those found in Zellweger syndrome, but no peroxysomal defect is found in these patients.