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, Cataract, Cleft palate, Coarse facial features, Congenital diaphragmatic hernia, Coxa valga, Cryptorchidism, Cutis marmorata, Dandy-Walker malformation, Delayed skeletal maturation, 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, Hirsutism, 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, Macroglossia, Microcephaly, Nystagmus, Partial agenesis of the corpus callosum, Ptosis, Recurrent respiratory infections, Renal hypoplasia/aplasia, 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, Ventriculomegaly, Visual impairment, Wide mouth, Wide nasal bridge, Wide nose, obsolete Joint hyperflexibility

abnormal hindlimb morphology, abnormal hindlimb zeugopod morphology, abnormal intestinal smooth muscle morphology, abnormal jejunum morphology, abnormal melanoblast morphology, abnormal pulmonary valve cusp morphology, abnormal semilunar valve morphology, arrested T cell differentiation, atrioventricular septal defect, cardiovascular system phenotype, cellular phenotype, coronary-cameral fistula to right ventricle, decreased CD4-positive, alpha beta T cell number, decreased colon length, decreased double-negative T cell number, decreased double-positive T cell number, decreased single-positive T cell number, decreased small intestine length, decreased survivor rate, decreased thymocyte number, dilated heart, embryonic lethality before implantation, complete penetrance, embryonic lethality during organogenesis, complete penetrance, embryonic lethality, complete penetrance, enlarged cecum, enlarged ileum, immune system phenotype, impaired skin barrier function, impaired smooth muscle contractility, increased mammary adenocarcinoma incidence, increased tumor incidence, lethality throughout fetal growth and development, incomplete penetrance, megacolon, monodactyly, neonatal lethality, complete penetrance, no abnormal phenotype detected, postnatal lethality, incomplete penetrance, primary atelectasis, shiny skin, thick aortic valve, thick aortic valve cusps, thick heart valve cusps, thick myocardium, thick pulmonary valve