Term Name: Galloway-Mowat syndrome 8
Synonyms:
Definition: A Galloway-Mowat syndrome characterized by impaired psychomotor development, poor overall growth with microcephaly, and early-onset progressive nephrotic syndrome associated with focal segmental glomerulosclerosis on renal biopsy that has_material_basis_in homozygous mutation in the NUP133 gene on chromosome 1q42.
Ontology: Human Disease [DOID:0061291]   ( DOID:0061291 )

Relationships
is a type of: autosomal recessive disease Galloway-Mowat syndrome