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GTR Home > Conditions/Phenotypes > Galloway-Mowat syndrome 6

Galloway-Mowat syndrome 6

Summary

Galloway-Mowat syndrome is a phenotypically heterogeneous disorder characterized by neurodevelopmental defects combined with renal-glomerular disease manifest as nephrotic syndrome and proteinuria. Most patients with GAMOS6 also have growth deficiency with variable microcephaly, and the renal disease may be age-dependent. Additional variable endocrine abnormalities have also been reported (summary by Braun et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300). [from OMIM]

Available tests

8 tests are in the database for this condition.

Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GAMOS6, MIGSB, TRM82, TRMT82, Wuho, hWH, WDR4
    Summary: WD repeat domain 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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