| Metadata | |
|---|---|
| ID | DOID:0070719 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070719 Copy |
| Name | neurocardiorenal malformation syndrome |
| 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. https://pmc.ncbi.nlm.nih.gov/articles/PMC12256896/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621379 |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a autosomal recessive disease is_a physical disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |