Aplasia/Hypoplasia of the patella, Bilateral single transverse palmar creases, Cataract, Cleft palate, Coarse facial features, Congenital diaphragmatic hernia, Coxa valga, Cryptorchidism, Cutis marmorata, Dandy-Walker malformation, Delayed speech and language development, Depressed nasal bridge, Depressed nasal ridge, Ectopic kidney, Eczema, Elbow dislocation, Epicanthus, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Generalized hirsutism, Generalized hypotonia, Global developmental delay, Hearing impairment, Hernia, Hydronephrosis, Hyperactivity, Hypoplasia of the corpus callosum, Hypoplastic fifth fingernail, Hypoplastic fifth toenail, Hypotonia, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Kyphosis, Lacrimation abnormality, Long eyelashes, Microcephaly, Nystagmus, Partial agenesis of the corpus callosum, Poor suck, Ptosis, Recurrent respiratory infections, Renal hypoplasia/aplasia, Scoliosis, Seizure, Self-injurious behavior, Short distal phalanx of finger, Short philtrum, Short stature, Sleep disturbance, Slow-growing hair, Sparse scalp hair, Spina bifida occulta, Strabismus, Thick eyebrow, Thick lower lip vermilion, Thin upper lip vermilion, Ventriculomegaly, Wide mouth, Wide nasal bridge

postnatal lethality, postnatal lethality, complete penetrance, thin cerebral cortex