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Galloway-Mowat syndrome 9

Summary

Galloway-Mowat syndrome-9 (GAMOS9) is an autosomal recessive disorder characterized by onset of nephrotic syndrome with proteinuria in infancy or early childhood. The renal disease is slowly progressive, but some affected individuals may develop end-stage renal disease in the first decade. Renal biopsy shows focal segmental glomerulosclerosis (FSGS) or diffuse mesangial sclerosis (DMS). Affected individuals also have developmental delay and secondary microcephaly. Additional features may include facial dysmorphism and gastroesophageal reflux. Early death may occur (Arrondel et al., 2019). For a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: C14orf142, PNAS-127, GON7
    Summary: GON7 subunit of KEOPS complex

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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