Abnormal toenail morphology, Absent speech, Agenesis of corpus callosum, Anteverted nares, Aplasia/Hypoplasia of the cerebellar vermis, Aplasia/Hypoplasia of the corpus callosum, Asymmetry of the ears, Axial hypotonia, Brachycephaly, Broad fingertip, Broad nasal tip, Cardiomyopathy, Cataract, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Cerebral visual impairment, Clitoral hypoplasia, Congestive heart failure, Cryptorchidism, Delayed puberty, Depressed nasal bridge, Developmental cataract, Downslanted palpebral fissures, Epicanthus, Everted lower lip vermilion, Failure to thrive, Feeding difficulties in infancy, Flexion contracture, Furrowed tongue, Generalized hirsutism, Global brain atrophy, Global developmental delay, Hand tremor, Hearing impairment, High palate, Hydronephrosis, Hyperlordosis, Hypogonadotropic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Hypotelorism, Hypotonia, Intellectual disability, Intellectual disability, mild, Intellectual disability, progressive, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Kyphosis, Lissencephaly, Low anterior hairline, Lower limb spasticity, Low posterior hairline, Lumbar hyperlordosis, Macrotia, Malar flattening, Metatarsus adductus, Microcephaly, Microcornea, Micrognathia, Micropenis, Microphthalmia, Midface retrusion, obsolete Joint laxity, obsolete Low-set, posteriorly rotated ears, Optic atrophy, Overlapping toe, Pachygyria, Pectus carinatum, Pectus excavatum, Peripheral neuropathy, Polymicrogyria, Posteriorly rotated ears, Prematurely aged appearance, Progressive spastic paraplegia, Prominent antitragus, Prominent nasal bridge, Prominent nipples, Recurrent respiratory infections, Retinal coloboma, Scoliosis, Secondary microcephaly, Seizure, Severe global developmental delay, Short metacarpal, Short nose, Short palm, Short phalanx of finger, Short philtrum, Short stature, Short toe, Slender ulna, Small scrotum, Spastic diplegia, Spastic dysarthria, Spasticity, Talipes equinovarus, Talipes valgus, Tooth malposition, Tracheomalacia, Ulnar deviation of finger, Undetectable visual evoked potentials, Wide nasal bridge