Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormal facial shape, Abnormal glucose homeostasis, Abnormal joint morphology, Abnormal muscle tone, Abnormal nasal morphology, Abnormal peripheral myelination, Abnormal shape of the frontal region, Abnormality of blood and blood-forming tissues, Abnormality of bone marrow cell morphology, 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 immune system physiology, Abnormality of limb bone morphology, Abnormality of metabolism/homeostasis, Abnormality of mouth size, Abnormality of movement, Abnormality of muscle morphology, 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 foot, Abnormality of the forebrain, Abnormality of the forehead, Abnormality of the fundus, Abnormality of the genitourinary system, Abnormality of the head, Abnormality of the heart, Abnormality of the hindbrain, Abnormality of the immune system, Abnormality of the inner ear, Abnormality of the kidney, Abnormality of the lower limb, Abnormality of the lung, Abnormality of the metencephalon, Abnormality of the mouth, Abnormality of the musculature, Abnormality of the myocardium, Abnormality of the nasopharynx, Abnormality of the nervous system, Abnormality of the nose, Abnormality of the ocular region, Abnormality of the optic nerve, Abnormality of the orbital region, Abnormality of the periorbital region, Abnormality of the peripheral nervous system, Abnormality of the pharynx, Abnormality of the posterior segment of the eye, Abnormality of the respiratory system, Abnormality of the skeletal system, Abnormality of the skull, Abnormality of the spinal cord, Abnormality of the upper urinary tract, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of urine homeostasis, Abnormality of vision, Absent speech, Adult onset, Age of onset, All, Amyotrophy, Areflexia, Areflexia of lower limbs, Arthritis, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cardiomyopathy, Cerebral calcification, Cognitive impairment, Congestive heart failure, Convex nasal ridge, Decreased purine levels, Delayed speech and language development, Diabetes mellitus, Distal amyotrophy, Distal sensory impairment, Dysmetria, Ectopic calcification, Epicanthus, Excessive purine production, Frontal bossing, Functional abnormality of the inner ear, Gait disturbance, Global developmental delay, Gonosomal inheritance, Gout, Growth abnormality, Growth delay, Hearing abnormality, Hearing impairment, Hypermetropia, Hypertonia, Hyperuricemia, Hyperuricosuria, Hypotelorism, Hypouricemia, Increased phosphoribosylpyrophosphate (PRPP) synthetase, Increased purine levels, Infantile onset, Intellectual disability, Malformation of the heart and great vessels, Megaloblastic bone marrow, Mode of inheritance, Morphological abnormality of the central nervous system, Motor delay, Muscular hypotonia, Nephrolithiasis, Neurological speech impairment, Onset, Onset and clinical course, Optic atrophy, Paralysis due to lesions of the principle motor tracts, Peripheral axonal degeneration, Peripheral axonal neuropathy, Peripheral demyelination, Peripheral neuropathy, Pes cavus, Phenotypic abnormality, Polyneuropathy, Progressive axonal neuropathy with demyelinization on electroneurography, Progressive visual loss, Recurrent infections, Recurrent respiratory infections, Recurrent upper respiratory tract infections, Reduced tendon reflexes, Renal insufficiency, Respiratory tract infection, Segmental peripheral demyelination/remyelination, Seizures, Sensorineural hearing impairment, Sensory impairment, Spinal cord posterior columns myelin loss, Tetraplegia, Triangular face, Uric acid nephrolithiasis, Visual impairment, Visual loss, Wide mouth, X-linked inheritance, X-linked recessive inheritance.