Abnormality of fundus pigmentation, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the dentition, Abnormality of the digestive system, Abnormality of the face, Abnormality of the immune system, Abnormality of the pancreas, Abnormality of the skeletal system, Abnormality of toe, Accessory oral frenulum, Agenesis of corpus callosum, Agenesis of permanent teeth, Airway obstruction, Alveolar ridge overgrowth, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Apnea, Arachnoid cyst, Asplenia, Asthma, Ataxia, Atelectasis, Atypical scarring of skin, Bifid tongue, Bilateral cryptorchidism, Biparietal narrowing, Blindness, Brachydactyly, Brittle hair, Broad alveolar ridges, Broad nasal tip, Broad palm, Bronchiectasis, Carious teeth, Cataract, Central Y-shaped metacarpal, Cerebellar vermis hypoplasia, Choanal atresia, Chronic bronchitis, Chronic otitis media, Chronic sinusitis, Cleft palate, Cleft upper lip, Clinodactyly, Clinodactyly of the 5th finger, Clubbing of fingers, Coarse facial features, Coarse hair, Conductive hearing impairment, Cone-shaped epiphysis, Congenital hip dislocation, Constriction of peripheral visual field, Corneal dystrophy, Cough, Dandy-Walker malformation, Deep philtrum, Delayed speech and language development, Deviation of finger, Dolichocephaly, Downslanted palpebral fissures, Dry skin, Dystonia, Ectopic pregnancy, Elevated circulating hepatic transaminase concentration, Enamel hypoplasia, Enlarged cisterna magna, Epicanthus, Episodic tachypnea, Esotropia, Exocrine pancreatic insufficiency, Facial asymmetry, Facial capillary hemangioma, Failure to thrive, Feeding difficulties in infancy, Finger clinodactyly, Finger syndactyly, Foot polydactyly, Frontal bossing, Gait disturbance, Generalized hypotonia, Glaucoma, Global developmental delay, Glue ear, Gray matter heterotopia, Growth delay, Halitosis, Hamartoma of tongue, Hand polydactyly, Headache, Hearing impairment, Hepatic cysts, Hepatic fibrosis, High palate, Highly arched eyebrow, Hirsutism, Hydrocephalus, Hydronephrosis, Hyperactive deep tendon reflexes, Hyperinsulinemia, Hyperreflexia, Hypertelorism, Hypertension, Hypodontia, Hypogonadism, Hypoplasia of olfactory tract, Hypoplasia of penis, Hypoplasia of the zygomatic bone, Hypothalamic hamartoma, Hypotonia, Immotile cilia, Impaired nasal mucociliary clearance, Infertility, Intellectual disability, Intellectual disability, profound, Intellectual disability, progressive, Intellectual disability, severe, Keratoconus, Lip pit, Lobulated tongue, Long face, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Median cleft upper lip, Mesoaxial hand polydactyly, Mesoaxial polydactyly, Microcephaly, Micrognathia, Micropenis, Microretrognathia, Midline notch of upper alveolar ridge, Milia, Miscarriage, Molar tooth sign on MRI, Multicystic kidney dysplasia, Myelomeningocele, Nasal polyposis, Nyctalopia, Nystagmus, Obesity, Odontogenic neoplasm, Open bite, Ophthalmoplegia, Optic atrophy, Ovarian cyst, Pancreatic cysts, Pectus excavatum, Photophobia, Pneumonia, Polycystic kidney dysplasia, Polydactyly, Porencephalic cyst, Postaxial hand polydactyly, Postaxial polydactyly, Posteriorly rotated ears, Preaxial foot polydactyly, Preaxial hand polydactyly, Preaxial polydactyly, Progressive night blindness, Prominent nasal bridge, Proteinuria, Radial deviation of finger, Recurrent infections, Recurrent respiratory infections, Recurrent upper respiratory tract infections, Reduced bone mineral density, Reduced sperm motility, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia, Renal insufficiency, Respiratory distress, Rhinitis, Rod-cone dystrophy, Scaphocephaly, Scoliosis, Seizure, Sensorineural hearing impairment, Short finger, Short neck, Short nose, Short stature, Short toe, Single transverse palmar crease, Situs inversus totalis, Small nail, Sparse hair, Supernumerary tooth, Syndactyly, Tachypnea, Talipes equinovarus, Tapered finger, Tarsal synostosis, Telecanthus, Thick vermilion border, Thickened nuchal skin fold, Thin upper lip vermilion, Toe syndactyly, Tongue nodules, Tremor, Type II diabetes mellitus, U-Shaped upper lip vermilion, Underdeveloped nasal alae, Vascular dilatation, Ventriculomegaly, Visual impairment, Wide intermamillary distance, Wide mouth, Wide nasal bridge, Wide nose, obsolete Hypotrichosis

abnormal neuron differentiation, abnormal renal glomerulus morphology, abnormal sternum morphology, absent floor plate, decreased cranium height, decreased embryo size, decreased long bone epiphyseal plate size, distended pericardium, embryo phenotype, embryonic lethality during organogenesis, incomplete penetrance, incomplete embryo turning, limbs/digits/tail phenotype, neonatal lethality, complete penetrance, postnatal lethality, short radius, small lung