| Term Name: | neurocardiorenal malformation syndrome |
|---|---|
| Synonyms: | |
| Definition: | A physical disorder characterized by severe developmental delay associated with microcephaly, distinctive facial features, and multiorgan involvement including cardiac and renal malformations that has_material_basis_in homozygous or compound heterozygous mutation in the TM2D3 gene on chromosome 15q26. |
| Ontology: | Human Disease [DOID:0070719] ( DOID:0070719 ) |