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 )

Relationships
is a type of: autosomal recessive disease physical disorder