Abnormal axial skeleton morphology, Abnormal facial shape, Abnormal glucose homeostasis, Abnormality of calvarial morphology, Abnormality of carbohydrate metabolism/homeostasis, Abnormality of cardiovascular system physiology, Abnormality of central motor function, Abnormality of coordination, Abnormality of globe location, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of mouth size, Abnormality of muscle physiology, Abnormality of nucleobase metabolism, Abnormality of purine metabolism, Abnormality of pyramidal motor function, Abnormality of refraction, Abnormality of renal physiology, Abnormality of skeletal morphology, Abnormality of the calvaria, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the cerebrum, Abnormality of the ear, Abnormality of the endocrine system, Abnormality of the eye, Abnormality of the eyelid, Abnormality of the face, Abnormality of the forebrain, Abnormality of the forehead, Abnormality of the genitourinary system, Abnormality of the head, Abnormality of the heart, Abnormality of the hindbrain, Abnormality of the kidney, Abnormality of the metencephalon, Abnormality of the mouth, Abnormality of the musculature, Abnormality of the myocardium, Abnormality of the nervous system, Abnormality of the nose, Abnormality of the ocular region, Abnormality of the orbital region, Abnormality of the periorbital region, Abnormality of the peripheral nervous system, Abnormality of the skeletal system, Abnormality of the skull, Abnormality of the upper urinary tract, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormal joint morphology, Abnormal muscle tone, Abnormal nasal morphology, Abnormal shape of the frontal region, Absent speech, All, Areflexia, Arthritis, Ataxia, Cardiomyopathy, Cerebral calcification, Cognitive impairment, Congestive heart failure, Convex nasal ridge, Delayed speech and language development, Diabetes mellitus, Dysmetria, Ectopic calcification, Epicanthus, Excessive purine production, Frontal bossing, Global developmental delay, Gonosomal inheritance, Gout, Growth abnormality, Growth delay, Hearing abnormality, Hearing impairment, Hypermetropia, Hypertonia, Hyperuricemia, Hypotelorism, Increased phosphoribosylpyrophosphate (PRPP) synthetase, Increased purine levels, Malformation of the heart and great vessels, Mode of inheritance, Morphological abnormality of the central nervous system, Motor delay, Muscular hypotonia, Nephrolithiasis, Neurological speech impairment, Peripheral axonal degeneration, Peripheral axonal neuropathy, Peripheral neuropathy, Phenotypic abnormality, Polyneuropathy, Progressive axonal neuropathy with demyelinization on electroneurography, Reduced tendon reflexes, Renal insufficiency, Triangular face, Uric acid nephrolithiasis, Wide mouth, X-linked inheritance.