Clinodactyly of the 5th finger, Colitis, Corneal scarring, Coronal craniosynostosis, Cryptorchidism, Decreased serum testosterone concentration, Decreased testicular size, Delayed skeletal maturation, Diarrhea, Failure to thrive, Failure to thrive in infancy, Feeding difficulties, Generalized reticulate brown pigmentation, Global developmental delay, Growth delay, Hemiplegia, Hypergonadotropic hypogonadism, Hyperkeratosis, Hypohidrosis, Increased circulating gonadotropin level, Intellectual disability, Intellectual disability, mild, Intrauterine growth retardation, Long face, Male hypogonadism, Microcephaly, Microtia, Opacification of the corneal stroma, Photophobia, Pulmonary artery stenosis, Pulmonary valve atresia, Recurrent infection of the gastrointestinal tract, Recurrent infections, Recurrent pneumonia, Retractile testis, Retrognathia, Scoliosis, Seizure, Short stature, Shyness, Spasticity, Spina bifida occulta, Type II diabetes mellitus, Unilateral vocal cord paralysis, Upslanted palpebral fissure, Urethral stricture, Ventricular septal defect, Visual impairment, Visual loss, obsolete Impaired social interactions