Features include very common findings: Camptodactyly of finger; and common findings: Short stature, Narrow mouth, Hip contracture, and Sideways curvature of the spine (scoliosis) and others. 29 total HPO annotations.

MYL11 encodes myosin light chain 11 (169 aa). Myosin regulatory subunit that plays an essential role to maintain muscle integrity during early development. Plays a role in muscle contraction Highest expression in Muscle Skeletal (2,511 TPM) and Testis (6.6 TPM).

Arthrogryposis, distal, type 1C is associated with mutations in the MYL11 gene on chromosome 16.

MYL11 is classified as a druggable target with score 0.0.

Genetic testing for MYL11 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 1 very common feature, 11 common features.