Term Name: | Galloway-Mowat syndrome 1 |
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Synonyms: | autosomal recessive spinocerebellar ataxia 5, Galloway syndrome, microcephaly, hiatal hernia and nephrotic syndrome, nephrosis-microcephaly syndrome, nephrosis-neuronal dysmigration syndrome, SCAR5 |
Definition: | A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25. |
Ontology: | Human Disease [DOID:0060364] ( DOID:0060364 ) |