Autosomal recessive disorder (HMSN/ACC):
• Severe progressive sensorimotor neuropathy from infancy
• Developmental delay / intellectual disability
• Muscle weakness and muscle wasting
• Seizures
• Scoliosis
• Contractures
• Tremor
• Respiratory insufficiency
• With or without brain abnormalities (Complete / partial agenesis of corpus callosum)
Autosomal dominant disorder (CMT):
• Sensorimotor neuropathy
• Delayed motor development
• Muscle atrophy
• Achilles tendon retractions
• Foot deformities
• Spasticity (rare)
• Hydrocephalus (one family)
SLC12A6