Phenotype details |
see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; reduced fetal movement, intrauterine growth retardation, born at term, breech presentation; unaffected muscle type‐I‐fiber predominance |