Bilateral single transverse palmar creases, Cataract, Cleft palate, Clinodactyly, Coarse facial features, Congenital diaphragmatic hernia, Coxa valga, Cryptorchidism, Cutis marmorata, Dandy-Walker malformation, Depressed nasal bridge, Depressed nasal ridge, Ectopic kidney, Elbow dislocation, Epicanthus, Feeding difficulties in infancy, Generalized hirsutism, Generalized hypotonia, Global developmental delay, Hearing impairment, Hernia, Hydronephrosis, Hypoplasia of the corpus callosum, Hypoplastic fifth fingernail, Hypoplastic fifth toenail, Hypotonia, Intellectual disability, Intrauterine growth retardation, Kyphosis, Lacrimation abnormality, Laryngomalacia, Long eyelashes, Low-set ears, Microcephaly, Nystagmus, Partial agenesis of the corpus callosum, Persistence of primary teeth, Posteriorly rotated ears, Ptosis, Recurrent respiratory infections, Renal hypoplasia/aplasia, Scoliosis, Seizure, Short distal phalanx of finger, Short philtrum, Short stature, Slow-growing hair, Spastic tetraparesis, Spina bifida occulta, Strabismus, Thick eyebrow, Thick lower lip vermilion, Ventricular septal defect, Ventriculomegaly, Wide mouth, Wide nasal bridge, obsolete Joint hyperflexibility

decreased amacrine cell number, decreased insulin secretion, decreased pro-B cell number, decreased retina ganglion cell number, decreased retina inner nuclear layer thickness, failure of conotruncal ridge closure, increased retina apoptosis, lethality throughout fetal growth and development, complete penetrance, no abnormal phenotype detected, persistent right dorsal aorta, prenatal lethality, complete penetrance, thick interventricular septum, thin retina ganglion layer, vision/eye phenotype