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