Abnormal pulmonary valve morphology, Abnormal sternum morphology, Abnormality of bone marrow cell morphology, Abnormality of the mediastinum, Abnormality of the neck, Abnormality of the pinna, Abnormality of the sense of smell, Abnormality on pulmonary function testing, Adenomatous colonic polyposis, Agenesis of corpus callosum, Amenorrhea, Anal atresia, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Arachnodactyly, Ataxia, Back pain, Basal cell carcinoma, Bifid distal phalanx of the thumb, Bifid ribs, Bilateral sensorineural hearing impairment, Bitemporal hemianopia, Blindness, Brachycephaly, Brachydactyly, Brain stem compression, Bridged sella turcica, Broad face, Broad forehead, Calcification of falx cerebri, Cardiac fibroma, Cardiac rhabdomyoma, Carious teeth, Cataract, Cerebellar ataxia associated with quadrupedal gait, Cerebellar calcifications, Cerebellar cyst, Cerebellar hemorrhage, Cerebellar medulloblastoma, Cerebral calcification, Cerebral hemorrhage, Chromosomal breakage induced by ionizing radiation, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Coarse facial features, Cognitive impairment, Coloboma, Congenital diaphragmatic hernia, Cranial nerve paralysis, Cryptorchidism, 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 cranial suture closure, Depressed nasal bridge, Difficulty walking, Diplopia, Down-sloping shoulders, Downslanted palpebral fissures, Duplication of phalanx of hallux, Duplication of thumb phalanx, Dysarthria, Dysmetria, Ear pain, Eczema, Elevated hepatic transaminase, Emotional lability, Enlarged pituitary gland, Epicanthus, Excessive daytime somnolence, Facial palsy, Failure to thrive, Finger syndactyly, Focal T2 hypointense thalamic lesion, Focal-onset seizure, Frontal bossing, Functional motor deficit, Generalized hypotonia, Glaucoma, Global developmental delay, Growth delay, Hamartomatous stomach polyps, Headache, Hearing impairment, Hemifacial spasm, Hemiparesis, Hemivertebrae, High palate, Hydrocephalus, Hypertelorism, Hypertrophic cardiomyopathy, Hypogonadotropic hypogonadism, Hypopigmentation of the fundus, Hypoplasia of teeth, Hypospadias, Hypothalamic hypothyroidism, Hypotonia, Impotence, Increased circulating prolactin concentration, Increased intracranial pressure, Increased sensitivity to ionizing radiation, Intellectual disability, Intellectual disability, mild, Intellectual disability, severe, Intention tremor, Intracranial cystic lesion, Intracranial meningioma, Iris coloboma, Irregular ossification of hand bones, Irritability, Kyphoscoliosis, Large for gestational age, Lethargy, Long philtrum, Lower limb muscle weakness, Macrocephaly, Mandibular prognathia, Medulloblastoma, Melanocytic nevus, Memory impairment, Micropenis, Microphthalmia, Microretrognathia, Milia, Molar tooth sign on MRI, Motor delay, Nausea and vomiting, Neoplasm, Neoplasm of the anterior pituitary, Neoplasm of the lung, Neoplasm of the posterior pituitary, Neoplasm of the skin, Neoplasm of the tongue, Neuroblastoma, Neurofibromas, Neurological speech impairment, Nystagmus, Obesity, Oculomotor apraxia, Oculomotor nerve palsy, Odontogenic keratocysts of the jaw, Open mouth, Ophthalmoplegia, Optic atrophy, Orbital cyst, Ovarian carcinoma, Ovarian fibroma, Palmar pits, Papilledema, Parietal bossing, Pituitary hypothyroidism, Plantar pits, Polydactyly, Polymicrogyria, Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Posteriorly rotated ears, Preauricular skin tag, Preaxial foot polydactyly, Preaxial hand polydactyly, Progressive cerebellar ataxia, Progressive macrocephaly, Progressive pulmonary function impairment, Progressive visual loss, Prominent forehead, Prominent occiput, Proptosis, Pulmonary valve defects, Rectovaginal fistula, Reduced circulating prolactin concentration, Rhabdomyoma, Scoliosis, Secondary growth hormone deficiency, Seizure, Sensorineural hearing impairment, Short 4th metacarpal, Short distal phalanx of the thumb, Short nose, Short philtrum, Short ribs, Skin tags, Sloping forehead, Slow decrease in visual acuity, Smooth philtrum, Spina bifida, Spinal cord tumor, Spinal meningioma, Sprengel anomaly, Strabismus, Supernumerary ribs, Syncope, Tall stature, Tapered finger, Telecanthus, Thin vermilion border, Tinnitus, Toe syndactyly, Total ophthalmoplegia, Transient global amnesia, Triangular mouth, Trigeminal neuralgia, Triphalangeal thumb, Umbilical hernia, Upper limb muscle weakness, Urinary incontinence, Vertebral fusion, Vertebral wedging, Vertigo, Visual acuity test abnormality, Weak extraocular muscles, Wide anterior fontanel, Wide nasal bridge

abnormal hindbrain development, abnormal left-right axis patterning, abnormal limb bud morphology, abnormal limb morphology, abnormal liver size, abnormal midbrain development, abnormal myocardium layer morphology, abnormal primitive node morphology, abnormal skin appearance, abnormal somite development, abnormal white adipose tissue morphology, abnormal white adipose tissue physiology, abnormal white fat cell morphology, adipose tissue phenotype, brain aneurysm, decreased white adipose tissue amount, decreased white fat cell number, decreased white fat cell size, descending aorta dilation, embryonic growth retardation, embryonic lethality during organogenesis, complete penetrance, embryonic lethality prior to tooth bud stage, enlarged lymph nodes, failure of initiation of embryo turning, homeostasis/metabolism phenotype, incomplete embryo turning, increased respiratory quotient, increased startle reflex, lethality throughout fetal growth and development, complete penetrance, no abnormal phenotype detected, open neural tube, preweaning lethality, complete penetrance, small lung