distal arthrogryposis type 5 (DOID:0111608)
Alliance: disease page
Synonyms: arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome; DA5; DAIIB; distal arthrogryposis type IIB; distal arthrogryposis with ophthalmoplegia; oculomelic amyoplasia
Alt IDs: OMIM:108145, MESH:C537737
Definition: A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21.