Term Name: distal arthrogryposis type 3
Synonyms: camptodactyly-cleft palate-clubfoot syndrome, DA3, distal arthrogryposis multiplex congenita type IIA, Gordon syndrome
Definition: A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21.
Ontology: Human Disease [DOID:0111607]   ( DOID:0111607 )

Relationships
is a type of: autosomal dominant disease distal arthrogryposis