Ataxia, Azoospermia, Bimanual synkinesia, Breast hypoplasia, Camptodactyly, Cleft palate, Color vision defect, Congenital sensorineural hearing impairment, Cryptorchidism, Decreased fertility, Decreased serum testosterone concentration, Decreased testicular size, Delayed puberty, Delayed skeletal maturation, Depressed nasal bridge, Depression, Dysarthria, Dyspareunia, Erectile dysfunction, Eunuchoid habitus, Female hypogonadism, Gait disturbance, Generalized joint hypermobility, Gynecomastia, Hypertelorism, Hypogonadotropic hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Hypotonia, Ichthyosis, Impotence, Increased female libido, Male hypogonadism, Micropenis, Muscle weakness, Non-obstructive azoospermia, Nystagmus, Obesity, Osteopenia, Osteoporosis, Paraplegia, Pes cavus, Pes planus, Phenotypic abnormality, Primary amenorrhea, Ptosis, Recurrent fractures, Reduced bone mineral density, Renal agenesis, Secondary amenorrhea, Seizure, Sensorineural hearing impairment, Skeletal dysplasia, Sparse body hair, Tooth agenesis, Tremor, Visual impairment, Wide intermamillary distance

abnormal midface morphology, abnormal nasal pit morphology, abnormal neurohypophysis median eminence morphology, abnormal olfactory bulb development, abnormal olfactory epithelium cilium morphology, abnormal optic eminence morphology, abnormal pituitary diverticulum morphology, abnormal pituitary gland development, abnormal primary cilium morphology, abnormal red blood cell distribution width, abnormal respiratory conducting tube morphology, abnormal uterus morphology, absent adrenal gland, absent corpus luteum, absent seminal vesicle, absent tertiary ovarian follicles, decreased Leydig cell number, decreased blood urea nitrogen level, decreased body length, decreased bone mineralization, decreased circulating alanine transaminase level, decreased neuron number, decreased survivor rate, delayed balanopreputial separation, embryonic growth retardation, enlarged seminal vesicle, impaired ovarian folliculogenesis, improved glucose tolerance, increased body mass index, increased liver weight, increased percent body fat/body weight, increased red blood cell distribution width, iris synechia, lethality throughout fetal growth and development, incomplete penetrance, microvesicular hepatic steatosis, perinatal lethality, incomplete penetrance, reduced male fertility, seminiferous tubule degeneration, short perineum, small heart, small mandible, small ovary, small penis, small uterus