Autistic behavior, Blepharospasm, Brachydactyly, Bradykinesia, Broad chin, Broad nasal tip, Bulbous nose, Caesarian section, Cerebellar atrophy, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Chorea, Chronic otitis media, Constipation, Deeply set eye, Delayed gross motor development, Delayed speech and language development, Depressed nasal bridge, Depressed nasal tip, Difficulty walking, Downslanted palpebral fissures, Dystonia, Eczematoid dermatitis, Epicanthus, Failure to thrive, Flat occiput, Focal dystonia, Frequent falls, Gait disturbance, Gait imbalance, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hand tremor, Hearing impairment, High palate, High, narrow palate, Hip dysplasia, Hirsutism, Hypertelorism, Hypoplasia of the corpus callosum, Impaired oropharyngeal swallow response, Intellectual disability, Intellectual disability, moderate, Intrauterine growth retardation, Joint hypermobility, Kyphosis, Laryngeal stridor, Limb dystonia, Lipoma, Long eyelashes, Long face, Long philtrum, Low-set ears, Lower limb hyperreflexia, Macrotia, Microcephaly, Micrognathia, Microretrognathia, Myoclonus, Myopia, Nasolacrimal duct obstruction, Nystagmus, Obesity, Oral-pharyngeal dysphagia, Osteopenia, Parkinsonism with favorable response to dopaminergic medication, Pectus excavatum, Pointed chin, Postural instability, Progressive extrapyramidal muscular rigidity, Prominent coccyx, Prominent forehead, Prominent protruding coccyx, Prominent supraorbital ridges, Proptosis, Protruding ear, Protruding tongue, Reduced tendon reflexes, Resting tremor, Sacral dimple, Scoliosis, Seizure, Severe expressive language delay, Short neck, Shuffling gait, Sleep-wake cycle disturbance, Sparse hair, Spastic diplegia, Spasticity, Strabismus, Synophrys, Talipes cavus equinovarus, Thick eyebrow, Thickened ears, Thickened helices, Thin upper lip vermilion, Toenail dysplasia, Torsion dystonia, Tremor, Ventriculomegaly