Term Name: visceral heterotaxy 8
Synonyms:
Definition: A visceral heterotaxy that is characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the PKD1L1 gene on chromosome 7p12.
Ontology: Human Disease [DOID:0051022]   ( DOID:0051022 )

Relationships
is a type of: autosomal recessive disease visceral heterotaxy