Abnormal intervertebral disk morphology, Abnormal kinetic perimetry test, Abnormality of the dentition, Abnormality of the mediastinum, Abnormality of the sense of smell, Abnormality on pulmonary function testing, Amenorrhea, Anteverted nares, Apathy, 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, Ataxia, Back pain, Bilateral single transverse palmar creases, Bitemporal hemianopia, Blindness, Brain stem compression, Cataract, Cerebellar hypoplasia, Cerebral calcification, Cerebral hemorrhage, Cerebral palsy, Choroid plexus carcinoma, Chromosomal breakage induced by ionizing radiation, Cleft palate, Coarse facial features, Cognitive impairment, Congenital diaphragmatic hernia, Coxa valga, Cranial nerve paralysis, Cryptorchidism, Cutis marmorata, Dandy-Walker malformation, Decreased circulating ACTH level, Decreased circulating cortisol level, Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizing hormone level, Decreased serum estradiol, Decreased serum testosterone concentration, Delayed eruption of permanent teeth, Delayed skeletal maturation, Depressed nasal bridge, Depressed nasal ridge, Difficulty walking, Ear pain, Ectopic kidney, Elbow dislocation, Emotional lability, Enlarged pituitary gland, Epicanthus, Excessive daytime somnolence, Facial palsy, Feeding difficulties, Feeding difficulties in infancy, Focal T2 hypointense thalamic lesion, Focal-onset seizure, Functional motor deficit, Generalized hirsutism, Generalized hypotonia, Global developmental delay, Headache, Hearing impairment, Hemifacial spasm, Hemiparesis, Hemiplegia/hemiparesis, Hernia, Hirsutism, Hydrocephalus, Hydronephrosis, Hypertrichosis, Hypogonadotropic hypogonadism, Hypoplasia of the corpus callosum, Hypoplastic fifth fingernail, Hypoplastic fifth toenail, Hypothalamic hypothyroidism, Hypotonia, Impotence, Increased circulating prolactin concentration, Increased intracranial pressure, Increased sensitivity to ionizing radiation, Intellectual disability, Intracranial meningioma, Intrauterine growth retardation, Irritability, Kyphosis, Lacrimation abnormality, Limitation of joint mobility, Long eyelashes, Lower limb muscle weakness, Macrocephaly, Macroglossia, Malignant neoplasm of the central nervous system, Medulloblastoma, Memory impairment, Microcephaly, Migraine, Muscle weakness, Nausea and vomiting, Neoplasm of the anterior pituitary, Neoplasm of the posterior pituitary, Neoplasm of the skin, Neoplasm of the tongue, Neurofibroma, Neurological speech impairment, Nystagmus, Obesity, Oculomotor nerve palsy, Ophthalmoplegia, Papilledema, Partial agenesis of the corpus callosum, Pituitary hypothyroidism, Progressive pulmonary function impairment, Proptosis, Ptosis, Recurrent respiratory infections, Reduced circulating prolactin concentration, Reduced consciousness/confusion, Renal hypoplasia/aplasia, Scoliosis, Secondary growth hormone deficiency, Seizure, Short distal phalanx of finger, Short philtrum, Short stature, Slow decrease in visual acuity, Slow-growing hair, Sparse hair, Sparse scalp hair, Spina bifida occulta, Spinal meningioma, Strabismus, Syncope, Thick eyebrow, Thick lower lip vermilion, Tinnitus, Transient global amnesia, Trigeminal neuralgia, Upper limb muscle weakness, Urinary incontinence, Ventriculomegaly, Visual acuity test abnormality, Visual impairment, Weak extraocular muscles, Wide mouth, Wide nasal bridge, Wide nose, obsolete Joint hyperflexibility

absent trophectoderm cell proliferation, bruising, decreased glycogen catabolism rate, decreased litter size, decreased liver glycogen level, dissociated hepatocytes, embryonic lethality, embryonic lethality at implantation, complete penetrance, embryonic lethality between implantation and somite formation, complete penetrance, embryonic lethality prior to organogenesis, enlarged lymph nodes, failure of blastocyst to hatch from the zona pellucida, failure of embryo implantation, increased T cell derived lymphoma incidence, increased apoptosis, increased blastoma incidence, increased facial tumor incidence, increased hepatocyte proliferation, increased lymphoma incidence, increased malignant tumor incidence, increased rhabdomyoma incidence, increased trophectoderm apoptosis, increased tumor incidence, intestinal hemorrhage, neonatal lethality, complete penetrance, premature death, prenatal lethality, complete penetrance, prenatal lethality, incomplete penetrance, preweaning lethality, complete penetrance, thin cerebral cortex