Cerebral cortical atrophy, Cerebral palsy, Chronic constipation, Cryptorchidism, Decreased body weight, Delayed gross motor development, Delayed speech and language development, Down-sloping shoulders, Downslanted palpebral fissures, Failure to thrive, Feeding difficulties, Flat occiput, Flexion contracture, Generalized hypotonia, Global developmental delay, Hearing impairment, High palate, Highly arched eyebrow, Hyperextensibility of the finger joints, Hypoplasia of the corpus callosum, Inability to walk, Intellectual disability, severe, Intrauterine growth retardation, Limb joint contracture, Long eyelashes, Long face, Long palpebral fissure, Long philtrum, Low-set ears, Macrotia, Microcephaly, Overlapping toe, Prominent nasal bridge, Protruding ear, Retrognathia, Sacral dimple, Scoliosis, Seizure, Short neck, Short stature, Spastic tetraplegia, Spasticity, Talipes equinovarus, Tapered finger, Thin upper lip vermilion, Toe syndactyly, Ventricular septal defect, Ventriculomegaly, Wide nasal bridge, Wide nose