Convex nasal ridge, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Global developmental delay, Gray matter heterotopia, Growth delay, Hip dysplasia, Hyperreflexia, Hypertelorism, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, moderate, Intellectual disability, severe, Intrauterine growth retardation, Microcephaly, Micrognathia, Microtia, Mild global developmental delay, Narrow face, Pachygyria, Prematurely aged appearance, Sandal gap, Scoliosis, Seizure, Short stature, Sloping forehead, Small cerebral cortex, Sparse scalp hair, Strabismus, Thin upper lip vermilion, Tooth agenesis, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux, obsolete Joint hyperflexibility

abnormal humerus morphology, abnormal iridocorneal angle, abnormal mitosis, abnormal mitotic spindle morphology, abnormal myocardial fiber morphology, abnormal occipital bone morphology, abnormal retina photoreceptor layer morphology, abnormal social investigation, abnormal sternocostal joint morphology, abnormal tail morphology, abnormal tail movements, absent embryonic cilia, behavior/neurological phenotype, caudal vertebral fusion, cellular phenotype, chromosomal instability, decreased body length, decreased body size, decreased bone mineral content, decreased brain weight, decreased cranium length, decreased fetal size, decreased fetal weight, decreased inner canthal distance, decreased lean body mass, decreased locomotor activity, decreased neuron number, embryonic growth arrest, embryonic lethality between somite formation and embryo turning, complete penetrance, embryonic lethality during organogenesis, complete penetrance, eyelids fail to open, increased CD8-positive, alpha-beta T cell number, increased embryonic tissue cell apoptosis, increased sacral vertebrae number, iris synechia, lethality throughout fetal growth and development, incomplete penetrance, nervous system phenotype, polysyndactyly, retention of the adrenal gland x-zone, short lumbar vertebrae, small cranium, small sacral vertebrae, taste/olfaction phenotype