Cerebellar vermis hypoplasia, Cerebral atrophy, Cerebral visual impairment, Chorea, Choreoathetosis, Cleft palate, Cognitive impairment, Constipation, Cryptorchidism, Deeply set eye, Dementia, Dysarthria, Dysdiadochokinesis, Dysmetria, Dysphagia, Dyssynergia, Epicanthus, Fetal cystic hygroma, Gait ataxia, Gastroesophageal reflux, Global developmental delay, Hearing impairment, High forehead, High, narrow palate, Hip dysplasia, Hydronephrosis, Hyperintensity of cerebral white matter on MRI, Hypoplasia of the corpus callosum, Hyporeflexia, Impaired proprioception, Inability to walk, Inverted nipples, Involuntary movements, Joint hypermobility, Limb ataxia, Long philtrum, Low hanging columella, Low-set ears, Memory impairment, Myoclonus, Narrow forehead, Nystagmus, Obstructive sleep apnea, Open mouth, Ophthalmoparesis, Optic neuropathy, Oromandibular dystonia, Overhanging nasal tip, Overlapping fingers, Overlapping toe, Polymicrogyria, Posteriorly rotated ears, Progressive cerebellar ataxia, Recurrent otitis media, Renal agenesis, Renal hypoplasia, Saccadic smooth pursuit, Scoliosis, Seizure, Thin upper lip vermilion, Truncal ataxia

premature death, reduced male fertility