Aplasia/hypoplasia of the uterus, Aqueductal stenosis, Arachnodactyly, Ataxia, Camptodactyly of finger, Cleft lip, Cleft palate, Clinodactyly, Cognitive impairment, Cubitus valgus, Decreased fertility, Decreased serum estradiol, Delayed puberty, Delayed skeletal maturation, Delayed speech and language development, Diffuse mesangial sclerosis, Dilated cardiomyopathy, EEG abnormality, Edema, Focal segmental glomerulosclerosis, Global developmental delay, Gonadal dysgenesis, Hallux valgus, Hearing impairment, Hemiplegia/hemiparesis, Hiatus hernia, High palate, Hypercholesterolemia, Hypertelorism, Hypoalbuminemia, Hypoplasia of the ear cartilage, Hypotelorism, Hypotonia, IgA deposition in the glomerulus, Increased circulating gonadotropin level, Intrauterine growth retardation, Kyphoscoliosis, Macrotia, Microcephaly, Micrognathia, Minimal change glomerulonephritis, Narrow forehead, Nephropathy, Nephrotic syndrome, Osteopenia, Osteoporosis of vertebrae, Pachygyria, Partial duplication of thumb phalanx, Pectus excavatum, Premature birth, Premature ovarian insufficiency, Primary amenorrhea, Proteinuria, Pulmonary fibrosis, Reduced bone mineral density, Renal tubular atrophy, Secondary amenorrhea, Seizure, Short stature, Sloping forehead, Smooth philtrum, Sparse pubic hair, Spasticity, Stage 5 chronic kidney disease, Streak ovary, Ventricular septal defect