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GTR Home > Conditions/Phenotypes > Galloway-Mowat syndrome 8

Galloway-Mowat syndrome 8

Summary

Galloway-Mowat syndrome-8 is an autosomal recessive disorder characterized by impaired psychomotor development, poor overall growth with microcephaly, and early-onset progressive nephrotic syndrome associated with focal segmental glomerulosclerosis on renal biopsy. Some patients may have seizures, and some may die in childhood (summary by Fujita et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300). [from OMIM]

Available tests

13 tests are in the database for this condition.

Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GAMOS8, NPHS18, hNUP133, NUP133
    Summary: nucleoporin 133

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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