Arachnodactyly, Atrial septal defect, Bilateral single transverse palmar creases, Cataract, Cerebellar hypoplasia, Cleft palate, Coarse facial features, Congenital diaphragmatic hernia, Coxa valga, Cryptorchidism, Cutis marmorata, Dandy-Walker malformation, Depressed nasal bridge, Depressed nasal ridge, Dystrophic toenail, Ectopic kidney, Elbow dislocation, Epicanthus, Feeding difficulties, Feeding difficulties in infancy, Generalized hirsutism, Global developmental delay, Hearing impairment, Hernia, Hydronephrosis, Hypoplasia of the corpus callosum, Hypoplastic fifth fingernail, Hypoplastic fifth toenail, Hypoplastic toenails, Hypotonia, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Kyphosis, Lacrimation abnormality, Long eyelashes, Low anterior hairline, Meningioma, Microcephaly, Nystagmus, Partial agenesis of the corpus callosum, Ptosis, Recurrent infections, Recurrent respiratory infections, Renal hypoplasia/aplasia, Sandal gap, Scoliosis, Seizure, Short distal phalanx of finger, Short philtrum, Short stature, Slow-growing hair, Sparse scalp hair, Spina bifida occulta, Strabismus, Thick eyebrow, Thick lower lip vermilion, Thick nasal alae, Thin upper lip vermilion, Ventriculomegaly, Wide mouth, Wide nasal bridge, Wide nose