Babinski sign, Bilateral external ear deformity, Cerebral cortical atrophy, Cough, Delayed ability to walk, Delayed gross motor development, Developmental regression, Difficulty in tongue movements, Difficulty walking, Dysphagia, Elbow flexion contracture, Febrile seizure (within the age range of 3 months to 6 years), Flexion contracture, Flexion contracture of finger, Flexion contracture of toe, Gait disturbance, Gait imbalance, Glabellar reflex, Hand tremor, High palate, Hip contracture, Hyperreflexia, Hyperreflexia in upper limbs, Hypoplasia of the corpus callosum, Intellectual disability, Intellectual disability, severe, Knee flexion contracture, Kyphosis, Language impairment, Limb hypertonia, Limb joint contracture, Loss of speech, Lower limb muscle weakness, Lower limb spasticity, Macroglossia, Motor delay, Muscle weakness, Narrow maxilla, Neurological speech impairment, Pallor, Parietal hypometabolism in FDG PET, Pes cavus, Pseudobulbar affect, Pseudobulbar paralysis, Saccadic smooth pursuit, Scoliosis, Seizure, Sensory neuropathy, Short philtrum, Skeletal muscle atrophy, Spastic dysarthria, Spastic gait, Spastic paraplegia, Spastic tetraparesis, Spasticity, Spasticity of facial muscles, Spasticity of pharyngeal muscles, Strabismus, Synophrys, Thick eyebrow, Upper limb spasticity, Upper motor neuron dysfunction, Wide mouth, Wrist flexion contracture, obsolete Toe walking