Amblyopia, Aminoaciduria, Anemia, Anxiety, Areflexia, Arthritis, Atelectasis, Attention deficit hyperactivity disorder, Atypical scarring of skin, Azoospermia, Benign neoplasm of the central nervous system, Bicarbonaturia, Buphthalmos, Camptodactyly of finger, Carious teeth, Cataract, Cheilitis, Chorioretinal dysplasia, Chronic kidney disease, Chronic otitis media, Clonus, Cognitive impairment, Compulsive behaviors, Constipation, Corneal opacity, Cryptorchidism, Decreased circulating vitamin D concentration, Deep philtrum, Deeply set eye, Dehydration, Delayed eruption of teeth, Delayed puberty, Dense posterior cortical cataract, Dental crowding, Depression, Developmental cataract, Diabetes insipidus, Dysphasia, EEG abnormality, Elevated amniotic fluid alpha-fetoprotein, Elevated circulating creatine kinase concentration, Elevated serum acid phosphatase, Enamel hypoplasia, Everted lower lip vermilion, Failure to thrive, Feeding difficulties in infancy, Fine hair, Finger swelling, Flat occiput, Frontal bossing, Full cheeks, Gastroesophageal reflux, Generalized hypopigmentation, Genu valgum, Gingivitis, Glaucoma, Global developmental delay, Glomerulopathy, Hematuria, Hernia, Hip dislocation, Hyperaldosteronism, Hypercalciuria, Hypercholesterolemia, Hyperparathyroidism, Hyperphosphaturia, Hypoammonemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Increased circulating lactate concentration, Intellectual disability, Joint contracture of the hand, Joint hypermobility, Joint stiffness, Joint swelling, Kyphosis, Lacrimation abnormality, Lentiglobus, Long face, Long philtrum, Low-molecular-weight proteinuria, Low-set, posteriorly rotated ears, Malabsorption, Mandibular prognathia, Micrognathia, Microphthalmia, Motor stereotypy, Multiple renal cysts, Narrow palate, Neonatal hypotonia, Neoplasm of the skin, Nephrocalcinosis, Nephrolithiasis, Nystagmus, Odontogenic neoplasm, Oligosacchariduria, Open bite, Open mouth, Osteomalacia, Patellar dislocation, Pathologic fracture, Periodontitis, Periventricular cysts, Platyspondyly, Proteinuria, Protruding ear, Proximal renal tubular acidosis, Proximal tubulopathy, Recurrent fractures, Recurrent respiratory infections, Reduced visual acuity, Renal Fanconi syndrome, Renal insufficiency, Respiratory insufficiency, Rickets, Scoliosis, Seizure, Self-injurious behavior, Short stature, Skin ulcer, Sparse scalp hair, Strabismus, Subcutaneous nodule, Taurodontia, Thin upper lip vermilion, Thrombocytopenia, Tooth agenesis, Umbilical hernia, Upslanted palpebral fissure, Urogenital fistula, Ventriculomegaly, Visual impairment, Wrist swelling, obsolete Elevated maternal serum alpha-fetoprotein, obsolete Joint hyperflexibility