Term Name: | distal arthrogryposis type 1C |
---|---|
Synonyms: | DA1C |
Definition: | A distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that has_material_basis_in heterozygous or homozygous mutation in the MYLPF gene on chromosome 16p11.2. |
Ontology: | Human Disease [DOID:0112190] ( DOID:0112190 ) |