Absent speech, Ankle clonus, Anteverted nares, Areflexia, Arthrogryposis multiplex congenita, Ataxia, Atrophy/Degeneration affecting the brainstem, Axial hypotonia, Babinski sign, Biparietal narrowing, Cerebellar atrophy, Cerebellar vermis atrophy, Cerebral atrophy, Cerebral cortical atrophy, Cerebral visual impairment, Developmental stagnation, Diffuse cerebellar atrophy, Distal amyotrophy, Distal sensory impairment, Drowsiness, Dysmetria, Dystrophic fingernails, Dystrophic toenail, EEG abnormality, Edema, Edema of the dorsum of feet, Edema of the dorsum of hands, Epicanthus, Feeding difficulties, Feeding difficulties in infancy, Flexion contracture, Foot acroosteolysis, Full cheeks, Generalized hypotonia, Gingival overgrowth, Global developmental delay, Hydrocephalus, Hyperhidrosis, Hyperlordosis, Hyperreflexia, Hypoplasia of the corpus callosum, Hyporeflexia, Hypsarrhythmia, Inability to walk, Infantile encephalopathy, Infantile spasms, Intellectual disability, Intellectual disability, profound, Intellectual disability, severe, Leg muscle stiffness, Limitation of joint mobility, Lower limb amyotrophy, Lower limb hyperreflexia, Lower limb muscle weakness, Lower limb spasticity, Macrotia, Malar flattening, Microcephaly, Midface retrusion, Myoclonus, Narrow forehead, Neuronal loss in central nervous system, Nystagmus, Open mouth, Optic atrophy, Osteolysis, Pachygyria, Palpebral edema, Pedal edema, Peripheral axonal neuropathy, Peripheral dysmyelination, Peripheral edema, Peripheral neuropathy, Polymicrogyria, Porencephalic cyst, Progressive microcephaly, Progressive spastic paraplegia, Recurrent respiratory infections, Reduced bone mineral density, Retrognathia, Scissor gait, Seizure, Sensorimotor neuropathy, Severe muscular hypotonia, Short nose, Short stature, Skeletal muscle atrophy, Somatic sensory dysfunction, Spastic gait, Spastic paraplegia, Spasticity, Talipes equinovarus, Tapered finger, Tented upper lip vermilion, Undetectable visual evoked potentials, Unsteady gait, Urinary bladder sphincter dysfunction, Ventriculomegaly, Visual loss, Wormian bones, obsolete External ear malformation

impaired balance, increased or absent threshold for auditory brainstem response, neonatal lethality, incomplete penetrance, neuron degeneration, postnatal lethality, complete penetrance, prenatal lethality, incomplete penetrance, unresponsive to tactile stimuli