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GTR Home > Conditions/Phenotypes > Peroxisome biogenesis disorder 3A (Zellweger)

Peroxisome biogenesis disorder 3A (Zellweger)

Synonyms
PEROXISOMAL BIOGENESIS DISORDER 3A (ZELLWEGER); Peroxisome biogenesis disorder 3A

Summary

The peroxisomal biogenesis disorder (PBD) 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 3 (CG3) have mutations in the PEX12 gene. For information on the history of PBD complementation groups, see 214100. [from OMIM]

Available tests

70 tests are in the database for this condition.

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Clinical tests (70 available)

Biochemical Genetics Tests

Molecular Genetics Tests

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  • Also known as: PAF-3, PBD3A, PEX12
    Summary: peroxisomal biogenesis factor 12

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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