| Metadata | |
|---|---|
| ID | DOID:0061291 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061291 Copy |
| Name | Galloway-Mowat syndrome 8 |
| 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. https://pubmed.ncbi.nlm.nih.gov/30427554/ |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |