Galloway-Mowat syndrome 1

Term ID

DOID:0060364

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. (2)

References

• MIM:251300

Ontology

Human Disease   ( DOID:0060364 )