Aplasia/Hypoplasia of the patella, Bilateral single transverse palmar creases, Brachydactyly, Broad philtrum, Cataract, Cleft palate, Clinodactyly, Coarse facial features, Compulsive behaviors, Congenital diaphragmatic hernia, Constipation, Coxa valga, Cryptorchidism, Cutis marmorata, Dandy-Walker malformation, Delayed ability to walk, Delayed speech and language development, Depressed nasal bridge, Depressed nasal ridge, Downslanted palpebral fissures, Ectopic kidney, Elbow dislocation, Epicanthus, Feeding difficulties, Feeding difficulties in infancy, Generalized hirsutism, Generalized hypotonia, Global developmental delay, Hearing impairment, Hernia, Hydronephrosis, Hyperactivity, Hypermetropia, Hypertelorism, Hypoplasia of the corpus callosum, Hypoplastic fifth fingernail, Hypoplastic fifth toenail, Hypotonia, Intellectual disability, Intrauterine growth retardation, Kyphosis, Lacrimation abnormality, Long eyelashes, Low-set ears, Macrotia, Microcephaly, Microdontia, Nystagmus, Partial agenesis of the corpus callosum, Posteriorly rotated ears, Prominent forehead, Ptosis, Recurrent otitis media, Recurrent respiratory infections, Renal hypoplasia/aplasia, Sagittal craniosynostosis, 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, Thin upper lip vermilion, Trigonocephaly, Ventriculomegaly, Wide mouth, Wide nasal bridge, obsolete Joint hyperflexibility

preweaning lethality, complete penetrance