Ambiguous genitalia, Amenorrhea, Anophthalmia, Anterior pituitary agenesis, Anterior pituitary hypoplasia, Anteverted nares, Aplasia/Hypoplasia of the breasts, Asthma, Bilateral cleft lip and palate, Choanal atresia, Cleft palate, Cleft upper lip, Constipation, Cryptorchidism, Cyclopia, Decreased cervical spine mobility, Decreased circulating ACTH level, Decreased response to growth hormone stimulation test, Decreased testicular size, Delayed puberty, Delayed skeletal maturation, Dental malocclusion, Depressed nasal bridge, Depressed nasal ridge, Diabetes insipidus, Duodenal atresia, EMG: myopathic abnormalities, Ectopic anterior pituitary gland, Ectopic posterior pituitary, Fatigue, Global developmental delay, Growth delay, Hemangioma, Holoprosencephaly, Hydrocephalus, Hypoglycemia, Hypogonadism, Hypogonadotropic hypogonadism, Hypopituitarism, Hypoplasia of penis, Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Hypotelorism, Hypotension, Hypothyroidism, Infertility, Intellectual disability, Intrauterine growth retardation, Iris coloboma, Macrotia, Malar flattening, Maternal diabetes, Median cleft lip and palate, Microcephaly, Micropenis, Microphthalmia, Midface retrusion, Midnasal stenosis, Narrow nasal bridge, Optic nerve hypoplasia, Oral cleft, Osteopenia, Osteoporosis of vertebrae, Panhypopituitarism, Partial agenesis of the corpus callosum, Pituitary dwarfism, Pituitary hypothyroidism, Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Premature birth, Prominent antihelix, Renal agenesis, Scoliosis, Seizure, Septo-optic dysplasia, Severe global developmental delay, Short hard palate, Short nose, Short philtrum, Short stature, Single naris, Solitary median maxillary central incisor, Strabismus, Tented upper lip vermilion, Tetralogy of Fallot, Underdeveloped tragus

abnormal cerebellum vermis morphology, abnormal developmental patterning, abnormal epiphyseal plate morphology, abnormal esophageal smooth muscle morphology, abnormal esophagus development, abnormal floor plate morphology, abnormal foregut morphology, abnormal frontal bone morphology, abnormal long bone epiphyseal plate proliferative zone, abnormal lung development, abnormal maxillary dental arch morphology, abnormal maxillary frontal process morphology, abnormal neuron differentiation, abnormal notochord morphology, abnormal palatal shelf elevation, abnormal palatal shelf fusion at midline, abnormal right lung morphology, abnormal rostral-caudal axis patterning, abnormal spinal cord interneuron morphology, abnormal spine curvature, abnormal tracheal cartilage morphology, abnormal vertebral body morphology, absent floor plate, absent intervertebral disk, absent lower incisors, absent maxillary shelf, absent palatine bone horizontal plate, absent presphenoid bone, absent right lung accessory lobe, absent temporomandibular joint disk, absent tympanic ring, absent upper incisors, decreased body size, decreased chondrocyte number, decreased embryo size, decreased lung weight, decreased mesenchymal cell proliferation involved in lung development, decreased width of hypertrophic chondrocyte zone, delayed bone ossification, digestive/alimentary phenotype, esophagus hypoplasia, impaired balance, impaired limb coordination, increased type II pneumocyte number, increased width of hypertrophic chondrocyte zone, nervous system phenotype, no abnormal phenotype detected, perinatal lethality, complete penetrance, persistence of notochord tissue, postnatal lethality, incomplete penetrance, premature death, prenatal lethality, complete penetrance, preweaning lethality, complete penetrance, progressive hair loss, reduced cerebellar foliation, reproductive system phenotype, respiratory system phenotype, short maxilla, short radius, small cerebellum, small lung, small lung saccule, small mandible, small mandibular condyloid process, thick lung-associated mesenchyme, thin external granule cell layer, trachea hypoplasia