Anterior hypopituitarism, Anteverted nares, Anxiety, Asthma, Ataxia, Azoospermia, Bimanual synkinesia, Breast hypoplasia, Camptodactyly, Choanal atresia, Cleft lip, Cleft palate, Color vision defect, Congenital sensorineural hearing impairment, Cryptorchidism, Cyclopia, Decreased fertility, Decreased serum testosterone concentration, Decreased testicular size, Delayed puberty, Delayed skeletal maturation, Depressed nasal bridge, Depression, Duodenal atresia, Dysarthria, Dyspareunia, EMG: myopathic abnormalities, Erectile dysfunction, Eunuchoid habitus, Female hypogonadism, Gait disturbance, Generalized joint hypermobility, Gynecomastia, Hemangioma, High palate, Holoprosencephaly, Hypertelorism, Hypogonadotropic hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypotelorism, Hypothalamic gonadotropin-releasing hormone deficiency, Hypothyroidism, Hypotonia, Ichthyosis, Impotence, Increased female libido, Intellectual disability, Intrauterine growth retardation, Iris coloboma, Male hypogonadism, Maternal diabetes, Microcephaly, Micropenis, Midnasal stenosis, Muscle weakness, Narrow nasal bridge, Non-obstructive azoospermia, Nystagmus, Obesity, Orofacial cleft, Osteopenia, Osteoporosis, Panhypopituitarism, Paraplegia, Pes cavus, Pes planus, Phenotypic abnormality, Premature birth, Primary amenorrhea, Ptosis, Recurrent fractures, Reduced bone mineral density, Renal agenesis, Scoliosis, Secondary amenorrhea, Seizure, Sensorineural hearing impairment, Short nose, Short philtrum, Short stature, Skeletal dysplasia, Small pituitary gland, Solitary median maxillary central incisor, Sparse body hair, Strabismus, Tented upper lip vermilion, Tetralogy of Fallot, Tooth agenesis, Tremor, Visual impairment, Wide intermamillary distance

abnormal common carotid artery morphology, abnormal conotruncal ridge morphology, abnormal coronary artery morphology, abnormal coronary vessel morphology, abnormal craniofacial development, abnormal craniofacial morphology, abnormal developmental patterning, abnormal digit development, abnormal ectoderm development, abnormal embryonic epiblast morphology, abnormal forebrain development, abnormal forelimb stylopod morphology, abnormal forelimb zeugopod morphology, abnormal fourth pharyngeal arch artery morphology, abnormal genital tubercle morphology, abnormal heart development, abnormal heart tube morphology, abnormal hindlimb stylopod morphology, abnormal hindlimb zeugopod morphology, abnormal kidney development, abnormal limb development, abnormal limb morphology, abnormal mandible morphology, abnormal maxilla morphology, abnormal mesoderm development, abnormal neural crest cell apoptosis, abnormal neural crest cell morphology, abnormal neural fold formation, abnormal patterning of the organ of Corti, abnormal pharyngeal arch artery morphology, abnormal pharyngeal arch mesenchyme morphology, abnormal pillar cell differentiation, abnormal pillar cell morphology, abnormal primitive streak elongation, abnormal primitive streak morphology, abnormal rhombomere morphology, abnormal rostral-caudal axis patterning, abnormal serotonergic neuron morphology, abnormal sixth pharyngeal arch artery morphology, abnormal skeleton development, abnormal somite development, abnormal splanchnic mesoderm morphology, abnormal subclavian artery morphology, abnormal substantia nigra morphology, abnormal third pharyngeal arch artery morphology, abnormal thymus morphology, abnormal truncus arteriosus septation, abnormal ureteric bud morphology, abnormal vascular smooth muscle morphology, absent Meckel's cartilage, absent cardiac outflow tract, absent cerebellum, absent fourth pharyngeal arch artery, absent heart, absent heart right ventricle, absent incus, absent inferior colliculus, absent mesoderm, absent olfactory bulb, absent parathyroid glands, absent pillar cells, absent primitive node, absent renal glomerulus, absent sixth pharyngeal arch artery, absent somites, cardiovascular system phenotype, decreased cell proliferation, decreased dopaminergic neuron number, decreased embryo size, decreased heart right ventricle size, decreased mitotic index, decreased neuron apoptosis, dilated heart atrium, dilated heart left ventricle, ectopic parathyroid gland, ectopic thymus, embryonic lethality during organogenesis, complete penetrance, embryonic lethality during organogenesis, incomplete penetrance, embryonic lethality prior to tooth bud stage, enlarged third pharyngeal arch artery, fetal growth retardation, fourth pharyngeal arch artery hypoplasia, impaired branching involved in ureteric bud morphogenesis, increased apoptosis, increased kidney apoptosis, increased neuron apoptosis, neonatal lethality, complete penetrance, neonatal lethality, incomplete penetrance, nervous system phenotype, no abnormal phenotype detected, open neural tube, perinatal lethality, complete penetrance, perinatal lethality, incomplete penetrance, pharyngeal arch hypoplasia, postnatal lethality, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, prenatal lethality, prenatal lethality, incomplete penetrance, preweaning lethality, complete penetrance, retroesophageal right subclavian artery, skeleton phenotype, small cerebellum, small embryonic telencephalon, small first pharyngeal arch, small limb buds, small pharyngeal arch, small thymus, third pharyngeal arch artery hypoplasia