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GTR Home > Conditions/Phenotypes > Peroxisome biogenesis disorder 8A (Zellweger)

Peroxisome biogenesis disorder 8A (Zellweger)

Synonyms
Peroxisome biogenesis disorder 8A

Summary

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 9 (CG9, equivalent to CGD) have mutations in the PEX16 gene. For information on the history of PBD complementation groups, see 214100. [from OMIM]

Available tests

45 tests are in the database for this condition.

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Clinical tests (45 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: PBD8A, PBD8B, PEX16
    Summary: peroxisomal biogenesis factor 16

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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