Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the distal phalanx of the 5th toe, Aplasia/Hypoplasia of the patella, Bilateral single transverse palmar creases, Brachydactyly, Cataract, Cleft palate, Coarse facial features, Congenital diaphragmatic hernia, Coxa valga, Cryptorchidism, Cutis marmorata, Dandy-Walker malformation, Delayed skeletal maturation, Delayed speech and language development, Depressed nasal bridge, Depressed nasal ridge, Ectopic kidney, Elbow dislocation, Epicanthus, Feeding difficulties, Feeding difficulties in infancy, Generalized hirsutism, Generalized hypotonia, Global developmental delay, Hearing impairment, Hernia, Hydronephrosis, Hypertrichosis, Hypoplasia of the corpus callosum, Hypoplastic fifth fingernail, Hypoplastic fifth toenail, Hypotonia, Intellectual disability, Intrauterine growth retardation, Ischemic stroke, Kyphosis, Lacrimation abnormality, Long eyelashes, Low anterior hairline, Macroglossia, Microcephaly, Nystagmus, Partial agenesis of the corpus callosum, Ptosis, Recurrent infections, Recurrent respiratory infections, Renal hypoplasia/aplasia, Scoliosis, Seizure, Short distal phalanx of finger, Short philtrum, Short stature, Slow-growing hair, Small nail, Sparse scalp hair, Spina bifida occulta, Strabismus, Thick eyebrow, Thick lower lip vermilion, Ventriculomegaly, Visual impairment, Wide mouth, Wide nasal bridge, Wide nose, obsolete Joint hyperflexibility

abnormal neurocranium morphology, abnormal optic cup morphology, abnormal palatine bone morphology, abnormal placenta morphology, abnormal pluripotent precursor cell morphology, abnormal sixth pharyngeal arch artery morphology, abnormal third pharyngeal arch artery morphology, abnormal vascular development, abnormal visceral yolk sac morphology, absent fetal ductus arteriosus, absent heartbeat, absent mesoderm, absent myocardial trabeculae, decreased embryo size, embryonic growth arrest, embryonic lethality between implantation and somite formation, complete penetrance, embryonic lethality during organogenesis, complete penetrance, failure to gastrulate, forebrain hypoplasia, hematopoietic system phenotype, increased hematopoietic stem cell number, increased spongiotrophoblast size, lethality throughout fetal growth and development, incomplete penetrance, neonatal lethality, complete penetrance, no abnormal phenotype detected, open neural tube, pale yolk sac, short premaxilla, small temporal bone squamous part