DISEASES

Disease-gene associations mined from literature

Human genes for distal arthrogryposis type 3

Distal arthrogryposis type 3 [DOID:0111607]

A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in PIEZO2 on chromosome 18p11.22-p11.21.

Synonyms:  distal arthrogryposis type 3,  DOID:0111607,  DA3,  Gordon syndrome,  camptodactyly-cleft palate-clubfoot syndrome ...