Distal lower limb amyotrophy, Distal sensory impairment, Dupuytren contracture, Dysphagia, Feeding difficulties, Generalized hypotonia, Hearing impairment, Hyperreflexia, Hyperreflexia in upper limbs, Impaired distal vibration sensation, Impaired vibration sensation in the lower limbs, Intellectual disability, moderate, Knee clonus, Leg muscle stiffness, Lower limb hyperreflexia, Lower limb muscle weakness, Lower limb spasticity, Microcephaly, Myoclonus, Nystagmus, Pallor, Paresthesia, Parkinsonism, Peripheral axonal neuropathy, Pes cavus, Progressive leukoencephalopathy, Progressive pes cavus, Ptosis, Rod-cone dystrophy, Scoliosis, Seizure, Sensorimotor neuropathy, Spastic gait, Spastic paraparetic gait, Spastic paraplegia, Spastic/hyperactive bladder, Upper limb amyotrophy, Upper limb spasticity, Upper motor neuron dysfunction, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency, Varicose veins

lethality at weaning, incomplete penetrance, neonatal lethality, complete penetrance, nervous system phenotype, no abnormal phenotype detected, postnatal lethality, complete penetrance, premature death, preweaning lethality, complete penetrance, sporadic seizures