Abnormality of coordination, Abnormality of vision, Absence of secondary sex characteristics, Adrenal insufficiency, Ambiguous genitalia, Ataxia, Attention deficit hyperactivity disorder, Autism, Axial hypotonia, Azoospermia, Babinski sign, Behavioral abnormality, Bradykinesia, Brain atrophy, Cerebellar atrophy, Cerebral atrophy, Clitoral hypertrophy, Cryptorchidism, Decreased fertility in females, Decreased fetal movement, Decreased serum estradiol, Decreased serum testosterone concentration, Decreased testicular size, Delayed myelination, Delayed puberty, Delayed skeletal maturation, Delayed speech and language development, Developmental regression, Difficulty walking, Downslanted palpebral fissures, Dysarthria, Dyskinesia, EEG with multifocal slow activity, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Encephalopathy, Epileptic encephalopathy, Failure to thrive, Feeding difficulties, Female external genitalia in individual with 46,XY karyotype, Gait ataxia, Gastroesophageal reflux, Gaze-evoked nystagmus, Generalized hypotonia, Global developmental delay, Gonadal dysgenesis, Gonadoblastoma, Growth delay, Gynecomastia, High forehead, Hypergonadotropic hypogonadism, Hyperreflexia, Hypodontia, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the vagina, Hyporeflexia, Hypospadias, Hypsarrhythmia, Impulsivity, Increased circulating gonadotropin level, Intellectual disability, Involuntary movements, Limb ataxia, Limb hypertonia, Male infertility, Mental deterioration, Microcephaly, Micropenis, Motor delay, Myoclonus, Neoplasm, Nephroblastoma, Nephrotic syndrome, Nystagmus, Optic atrophy, Osteoporosis, Ovarian gonadoblastoma, Poor head control, Primary amenorrhea, Primary gonadal insufficiency, Progressive microcephaly, Ptosis, Reduced ejection fraction, Reduced tendon reflexes, Retinal degeneration, Rigidity, Seizure, Short stature, Sparse axillary hair, Sparse pubic hair, Spasticity, Squamous cell carcinoma, Status epilepticus, Streak ovary, Testicular gonadoblastoma, Tremor, Unsteady gait, Urinary bladder sphincter dysfunction, Urogenital sinus anomaly, Vanishing testis

decreased circulating aspartate transaminase level, decreased circulating bicarbonate level, decreased circulating glucose level, decreased compact bone area, decreased liver weight, decreased osteoblast cell number, decreased spleen weight, decreased survivor rate, decreased theca cell number, decreased thymus weight, decreased trabecular bone connectivity density, decreased trabecular bone thickness, decreased trabecular bone volume, growth/size/body region phenotype, increased B cell derived lymphoma incidence, increased adrenal gland weight, increased brain weight, increased incidence of tumors by chemical induction, increased lung tumor incidence, increased malignant tumor incidence, increased pituitary gland weight, increased skeletal tumor incidence, increased tumor incidence, postnatal lethality, complete penetrance, premature death, reduced male fertility, reproductive system phenotype, seminiferous tubule degeneration, small ovary, small seminiferous tubules, small spleen, spleen atrophy, testis hypoplasia, thin uterine horn