CHANARIN-DORFMAN SYNDROME or
Severe Neurodevelopmental Syndrome
A human laterality disorder caused by a homozygous deleterious mutation in MMP21. (J Med Genet. 52: 840-847, 2015.)
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. (Nat Genet. 47: 1363-1369, 2015.)
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates. (Nat Genet. 47: 1260-1263, 2015.)
Look up phenotypes associated with MMP21 in Decipher
List of phenotypes that have been assigned to the G2P entry.