Abnormality of the gallbladder, Abnormality of the larynx, Advanced eruption of teeth, Aganglionic megacolon, Aggressive behavior, Ambiguous genitalia, Anteverted nares, Aplasia/Hypoplasia affecting the eye, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the radius, Atrial septal defect, Atrioventricular canal defect, Attention deficit hyperactivity disorder, Autism, Bicornuate uterus, Bifid scrotum, Bifid tongue, Biparietal narrowing, Brachydactyly, Breech presentation, Broad alveolar ridges, Cataract, Choanal atresia, Cholestatic liver disease, Cleft palate, Clitoral hypertrophy, Coarctation of aorta, Congenital diaphragmatic hernia, Constipation, Cryptorchidism, Cutaneous photosensitivity, Cutis marmorata, Dandy-Walker malformation, Decreased fetal movement, Dental crowding, Depressed nasal bridge, Downslanted palpebral fissures, Eczematoid dermatitis, Elevated 7-dehydrocholesterol, Epicanthus, Epiphyseal stippling, Excessive daytime somnolence, Facial capillary hemangioma, Failure to thrive, Feeding difficulties in infancy, Finger syndactyly, Gastroesophageal reflux, Gastrointestinal dysmotility, Gastroschisis, Generalized hypotonia, Gingival overgrowth, Glaucoma, Global developmental delay, Growth delay, Hammertoe, Hearing impairment, Hip dislocation, Hip subluxation, Holoprosencephaly, Hydrocephalus, Hydronephrosis, Hyperactivity, Hypertelorism, Hypocholesterolemia, Hypopigmentation of hair, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the frontal lobes, Hypospadias, Hypotonia, Increased nuchal translucency, Intellectual disability, Intestinal malrotation, Intrauterine growth retardation, Iris coloboma, Kyphosis, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Mesomelia, Metatarsus adductus, Microcephaly, Microglossia, Micrognathia, Micromelia, Micropenis, Multicystic kidney dysplasia, Narrow forehead, Nystagmus, Optic atrophy, Overlapping toe, Patent ductus arteriosus, Periventricular heterotopia, Polyhydramnios, Poor suck, Postaxial foot polydactyly, Postaxial hand polydactyly, Posteriorly rotated ears, Precocious puberty, Premature birth, Proptosis, Proximal placement of thumb, Ptosis, Pulmonary hypoplasia, Pyloric stenosis, Recurrent infections, Recurrent otitis media, Renal agenesis, Renal cyst, Renal hypoplasia, Renal hypoplasia/aplasia, Rhizomelia, Sclerocornea, Scoliosis, Seizure, Self-injurious behavior, Self-mutilation, Sensorineural hearing impairment, Septate vagina, Severe photosensitivity, Short neck, Short stature, Short thumb, Short toe, Sleep disturbance, Sleep-wake cycle disturbance, Small scrotum, Spasticity, Split hand, Strabismus, Supernumerary tooth, Talipes calcaneovalgus, Tooth agenesis, Tracheal stenosis, Ulnar deviation of finger, Unilateral renal agenesis, Upslanted palpebral fissure, Ureteropelvic junction obstruction, Ventricular septal defect, Ventriculomegaly, Vomiting, Wide intermamillary distance, Wide mouth, Wide nasal bridge, obsolete Abnormality of the metacarpal bones

abnormal lung development, abnormal lung epithelium morphology, abnormal lung saccule morphology, abnormal lung vasculature morphology, abnormal nasal cavity morphology, abnormal placenta morphology, abnormal placenta vasculature, abnormal pulmonary alveolus morphology, abnormal suckling behavior, abnormal type I pneumocyte morphology, abnormal vocalization, absent gastric milk in neonates, absent suckling reflex, decreased birth body size, decreased birth weight, decreased brain cholesterol level, decreased brain size, decreased cholesterol level, decreased liver cholesterol level, decreased locomotor activity, decreased lung weight, decreased pulmonary respiratory rate, embryonic lethality, incomplete penetrance, fetal growth retardation, hypoxia, impaired lung alveolus development, neonatal lethality, complete penetrance, no spontaneous movement, no swallowing reflex, palatal shelves fail to meet at midline, preweaning lethality, complete penetrance, small kidney, small lung, weakness