Autism, Butterfly vertebrae, Cleft palate, Coloboma, Constipation, Cryptorchidism, Decreased response to growth hormone stimulation test, Diabetes insipidus, Dry skin, Esophageal atresia, Failure to thrive, Fatigue, Frontal bossing, Generalized hypotonia, Global developmental delay, Growth delay, Hearing impairment, Hemiplegia/hemiparesis, Hemivertebrae, Holoprosencephaly, Hydrocephalus, Hypogonadotropic hypogonadism, Hypohidrosis, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypospadias, Hypothalamic hamartoma, Hypotonia, Intellectual disability, Iris coloboma, Maternal diabetes, Microcephaly, Micropenis, Microphthalmia, Missing ribs, Nystagmus, Obesity, Optic disc hypoplasia, Optic nerve hypoplasia, Patent ductus arteriosus, Polydactyly, Polydipsia, Psychomotor retardation, Rib fusion, Sclerocornea, Seizure, Sensorineural hearing impairment, Septo-optic dysplasia, Short finger, Short stature, Sleep disturbance, Spastic diplegia, Spastic tetraplegia, Specific learning disability, Strabismus, Supernumerary ribs, Tracheoesophageal fistula, Ventricular septal defect, Vertebral fusion, Vertebral hypoplasia, Visual impairment, Visual loss

abnormal epiglottis morphology, abnormal esophageal squamous epithelium morphology, abnormal eye size, abnormal fungiform papillae morphology, abnormal guard hair morphology, abnormal hippocampus development, abnormal lung epithelium morphology, abnormal neuron differentiation, abnormal neuronal precursor proliferation, abnormal palate morphology, abnormal pinna reflex, abnormal placing response, abnormal radial glial cell morphology, abnormal respiratory mucosa goblet cell morphology, abnormal retina progenitor cell morphology, abnormal seminiferous tubule morphology, abnormal sensory capabilities/reflexes/nociception, abnormal sulcus ampullaris morphology, abnormal zigzag hair morphology, absent anterior lingual gland, absent club cells, absent cochlear hair cells, absent cochlear nerve compound action potential, absent dentate gyrus, absent ectoplacental cone, absent egg cylinders, absent embryonic epiblast, absent palatine gland, absent respiratory motile cilia, absent respiratory mucosa goblet cells, absent vestibular hair cells, behavior/neurological phenotype, bidirectional circling, bifurcated Rathke's pouch, bronchial epithelial hyperplasia, bronchiolar epithelial hyperplasia, circling, deafness, decreased adrenocorticotropin level, decreased body size, decreased cochlear nerve compound action potential, decreased corpus callosum size, decreased growth hormone level, decreased luteinizing hormone level, decreased male germ cell number, decreased prolactin level, decreased somatotroph cell number, decreased thyroid-stimulating hormone level, digestive/alimentary phenotype, dilated cochlea, diluted coat color, disorganized retina layers, embryo phenotype, embryonic lethality between implantation and placentation, complete penetrance, embryonic lethality between implantation and somite formation, complete penetrance, enlarged lateral ventricles, enlarged third ventricle, growth/size/body region phenotype, head bobbing, head tossing, impaired righting response, impaired swimming, increased trophoblast giant cell number, integument phenotype, loss of hippocampal neurons, lung epithelium hyperplasia, neonatal lethality, complete penetrance, no abnormal phenotype detected, nonconvulsive seizures, postnatal lethality, postnatal lethality, incomplete penetrance, premature death, prenatal lethality, incomplete penetrance, preweaning lethality, complete penetrance, reduced male fertility, respiratory system phenotype, retina hyperplasia, small adenohypophysis, small hippocampus, small utricle, small vestibular saccule, tongue inflammation, vision/eye phenotype, yellow coat color