Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling
[orpha.net]
[…] and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints.
[orpha.net]
[…] rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness
[orpha.net]