Asthma, Basal cell carcinoma, Bifid ribs, Bilateral cleft lip and palate, Bilateral microphthalmos, Brachycephaly, Brachydactyly, Bridged sella turcica, Broad face, Calcification of falx cerebri, Cardiac fibroma, Cardiac rhabdomyoma, Carious teeth, Cataract, Cerebral calcification, Choanal atresia, Cleft palate, Cleft upper lip, Coarse facial features, Cryptorchidism, Cyclopia, Depressed nasal tip, Down-sloping shoulders, Duodenal atresia, EMG: myopathic abnormalities, Epicanthus, Flat nasal alae, Flat occiput, Frontal bossing, Fusion of the left and right thalami, Glaucoma, Global developmental delay, Hamartomatous stomach polyps, Hemangioma, Hemivertebrae, Holoprosencephaly, Hydrocephalus, Hypertelorism, Hypogonadotropic hypogonadism, Hypoplasia of penis, Hypoplasia of the premaxilla, Hypotelorism, Hypothyroidism, Intellectual disability, Intrauterine growth retardation, Iris coloboma, Irregular ossification of hand bones, Ischemic stroke, Kyphoscoliosis, Macrocephaly, Macrotia, Mandibular prognathia, Maternal diabetes, Median cleft lip and palate, Medulloblastoma, Melanocytic nevus, Microcephaly, Microphthalmia, Midface retrusion, Midline defect of the nose, Midnasal stenosis, Milia, Motor delay, Narrow nasal bridge, Neoplasm, Odontogenic keratocysts of the jaw, Omphalocele, Oral cleft, Orbital cyst, Ovarian carcinoma, Ovarian fibroma, Palmar pits, Panhypopituitarism, Parietal bossing, Plantar pits, Polydactyly, Premature birth, Renal agenesis, Rhabdomyoma, Scoliosis, Seizure, Semilobar holoprosencephaly, Short 4th metacarpal, Short distal phalanx of the thumb, Short nose, Short philtrum, Short ribs, Short stature, Skin tags, Solitary median maxillary central incisor, Spina bifida, Sprengel anomaly, Strabismus, Supernumerary ribs, Telecanthus, Tented upper lip vermilion, Tetralogy of Fallot, Upslanted palpebral fissure, Vertebral fusion, Vertebral wedging, Wide nasal bridge

abnormal foot pad morphology, abnormal frontal bone morphology, abnormal geniculate ganglion morphology, abnormal glossopharyngeal ganglion morphology, abnormal heart development, abnormal hematopoietic system morphology/development, abnormal interparietal bone morphology, abnormal kidney collecting duct morphology, abnormal kidney morphology, abnormal kidney pelvis morphology, abnormal lambdoid suture morphology, abnormal long bone hypertrophic chondrocyte zone, abnormal mandibular prominence morphology, abnormal maxillary prominence morphology, abnormal nasal placode morphology, abnormal neural plate morphology, abnormal neurocranium morphology, abnormal neuron differentiation, abnormal neuronal precursor cell number, abnormal neuronal precursor proliferation, abnormal osteoblast differentiation, abnormal rhombic lip morphology, abnormal sternum manubrium morphology, abnormal sternum morphology, abnormal telencephalon development, abnormal thoracic cavity morphology, abnormal thymus lobule morphology, abnormal trigeminal ganglion morphology, abnormal upper incisor morphology, abnormal vascular development, abnormal vestibulocochlear ganglion morphology, abnormal xiphoid process morphology, absent forebrain, absent fourth pharyngeal arch, absent optic vesicle, absent palatal shelf, absent presphenoid bone, absent third pharyngeal arch, alisphenoid bone hypoplasia, asymmetric sternocostal joints, belly spot, decreased circulating insulin-like growth factor I level, decreased double-positive T cell number, decreased fear-related response, decreased immature B cell number, decreased pre-B cell number, decreased transitional stage B cell number, decreased tumor growth/size, dermal cyst, dermal hyperplasia, domed cranium, embryonic growth arrest, embryonic lethality during organogenesis, complete penetrance, embryonic lethality during organogenesis, incomplete penetrance, embryonic lethality prior to organogenesis, embryonic lethality, complete penetrance, epidermal cyst, focal hair loss, fused synovial joints, incomplete rostral neuropore closure, increased basal cell carcinoma incidence, increased body size, increased chondrocyte proliferation, increased double-negative T cell number, increased embryo size, increased fetal size, increased fibroma incidence, increased gastrointestinal tumor incidence, increased incidence of tumors by UV-induction, increased incidence of tumors by ionizing radiation induction, increased lymphoma incidence, increased mature B cell number, increased mortality induced by ionizing radiation, increased neuronal precursor cell number, increased neutrophil cell number, increased single-positive T cell number, increased skin tumor incidence, increased tumor incidence, kinked tail, lethality throughout fetal growth and development, incomplete penetrance, mandibular coronoid process hypoplasia, mandibular cyst, nervous system phenotype, no abnormal phenotype detected, open neural tube, palatal shelf hypoplasia, postnatal lethality, complete penetrance, premature death, prenatal lethality, prenatal lethality, incomplete penetrance, scapular bone foramen, short mandibular coronoid process, short tail, skin lesions, small basisphenoid bone, small male preputial glands, small otic vesicle, small second pharyngeal arch, small seminal vesicle, thick tail