Aplasia/Hypoplasia of the skin, Atrial septal defect, Azoospermia, Blindness, Broad femoral neck, Broad ribs, Bronchiectasis, Camptodactyly, Cardiomegaly, Cerebral calcification, Cervical lymphadenopathy, Chronic rhinitis, Clavicular sclerosis, Cleft upper lip, Clinodactyly, Coarse metaphyseal trabecularization, Corneal arcus, Craniofacial hyperostosis, Decreased response to growth hormone stimulation test, Decreased testicular size, Delayed closure of the anterior fontanelle, Delayed eruption of teeth, Delayed puberty, Delayed skeletal maturation, Dermal atrophy, Developmental regression, Diabetes mellitus, Diaphyseal undertubulation, Disproportionate short stature, Elbow flexion contracture, Enlarged kidney, Episcleritis, Facial paralysis, Facial telangiectasia, Fever, Flared metaphysis, Frontal bossing, Full cheeks, Gingival overgrowth, Gynecomastia, Hallux valgus, Hearing impairment, Hepatomegaly, Hepatosplenomegaly, Hernia, High palate, Histiocytosis, Hydrocephalus, Hypergonadotropic hypogonadism, Hyperpigmentation of the skin, Hyperreflexia, Hypertelorism, Hypertrichosis, Hypertriglyceridemia, Hypogonadism, Ichthyosis, Increased bone mineral density, Increased intervertebral space, Increased susceptibility to fractures, Intellectual disability, Intellectual disability, mild, Irregular vertebral endplates, Lipodystrophy, Lymphadenopathy, Macrocephaly, Malabsorption, Microcytic anemia, Micrognathia, Micropenis, Mitral valve prolapse, Narrow chest, Narrow iliac wing, Natal tooth, Nystagmus, Obstructive sleep apnea, Oligodontia, Optic atrophy, Osteolysis, Osteopenia, Pancreatic hypoplasia, Parietal bossing, Pes planus, Platyspondyly, Premature loss of teeth, Progressive bowing of long bones, Prominent forehead, Proptosis, Psoriasiform dermatitis, Recurrent fever, Recurrent fractures, Recurrent pharyngitis, Retroperitoneal fibrosis, Round face, Scleroderma, Sclerosis of hand bone, Sclerosis of skull base, Sclerotic scapulae, Seizure, Sensorineural hearing impairment, Short diaphyses, Short ribs, Short stature, Short sternum, Splenomegaly, Stiff skin, Upper eyelid edema, Varicose veins, Ventricular septal defect, Vertebral hypoplasia, obsolete Abducens palsy, obsolete Hypotrichosis