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 )

Relationships
is a type of: autosomal genetic disease distal arthrogryposis type 1