Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Brachycephaly, Broad fingertip, Broad nasal tip, Cardiomyopathy, Cataract, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebral atrophy, Cerebral cortical atrophy, Cerebral visual impairment, Clitoral hypoplasia, Congestive heart failure, Cryptorchidism, Deeply set eye, Delayed puberty, Depressed nasal bridge, Developmental cataract, Downslanted palpebral fissures, Epicanthus, Everted lower lip vermilion, External genital hypoplasia, Facial hypertrichosis, Failure to thrive, Feeding difficulties in infancy, Furrowed tongue, Generalized hirsutism, Generalized hypotonia, Global developmental delay, High palate, Hydronephrosis, Hyperlordosis, Hyperreflexia, Hypogonadotropic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypoplastic labia minora, Hypotelorism, Hypotonia, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Intrauterine growth retardation, Joint hypermobility, Joint stiffness, Kyphoscoliosis, Kyphosis, Lissencephaly, Low posterior hairline, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Macrotia, Malar flattening, Metatarsus adductus, Microcephaly, Microcornea, Micrognathia, Micropenis, Microphthalmia, Midface retrusion, Optic atrophy, Osteoporosis, Overlapping toe, Pachygyria, Pectus carinatum, Pectus excavatum, Peripheral neuropathy, Posteriorly rotated ears, Prematurely aged appearance, Prominent antitragus, Prominent nipples, Ptosis, Recurrent respiratory infections, Retinal coloboma, Scoliosis, Seizure, Short metacarpal, Short nose, Short palm, Short phalanx of finger, Short philtrum, Short stature, Short toe, Slender ulna, Spastic diplegia, Spasticity, Talipes equinovarus, Talipes valgus, Tooth malposition, Tracheomalacia, Ulnar deviation of finger, Wide nasal bridge, obsolete Joint laxity