Coarse facial features, Corticospinal tract hypoplasia, Delayed speech and language development, Flexion contracture of thumb, Gait disturbance, Hand clenching, Hemiplegia/hemiparesis, Holoprosencephaly, Hydrocephalus, Hyperlordosis, Hyperreflexia, Increased intracranial pressure, Inferior cerebellar vermis hypoplasia, Intellectual disability, Intellectual disability, severe, Interhemispheric cyst, Joint stiffness, Kyphosis, Lower limb spasticity, Macrocephaly, Microcephaly, Muscle weakness, Nystagmus, Paraplegia, Partial agenesis of the corpus callosum, Pes cavus, Seizure, Short stature, Shuffling gait, Spastic paraplegia, Spasticity, Strabismus, Talipes equinovarus, Ventriculomegaly

abnormal response to tactile stimuli, abnormal retina ganglion cell morphology, abnormal sensory neuron innervation pattern, abnormal social investigation, abnormal somatic nervous system physiology, abnormal spatial learning, abnormal spinal cord dorsal horn morphology, abnormal thermal nociception, behavior/neurological phenotype, decreased anxiety-related response, decreased body size, decreased corticospinal tract size, decreased grip strength, decreased locomotor activity, enlarged cranium, enlarged fourth ventricle, excessive tearing, hindlimb paralysis, impaired limb coordination, increased exploration in new environment, increased grooming behavior, increased thigmotaxis, increased vertical activity, long toenails, nervous system phenotype, postnatal lethality, complete penetrance, prenatal lethality, incomplete penetrance, reproductive system phenotype, slow postnatal weight gain, thin cerebral cortex