Abdominal symptom, Abnormal axial skeleton morphology, Abnormal circulating creatinine level, Abnormal emotion/affect behavior, Abnormal fear/anxiety-related behavior, Abnormality of cardiovascular system physiology, Abnormality of central motor function, Abnormality of coordination, Abnormality of corneal epithelium, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of immune system physiology, Abnormality of metabolism/homeostasis, Abnormality of muscle physiology, Abnormality of nitrogen compound homeostasis, Abnormality of renal physiology, Abnormality of skeletal morphology, Abnormality of skin adnexa, Abnormality of taste sensation, Abnormality of tear glands or tear production, Abnormality of temperature regulation, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the anterior segment of the eye, Abnormality of the autonomic nervous system, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the cornea, Abnormality of the curvature of the vertebral column, Abnormality of the esophagus, Abnormality of the eye, Abnormality of the face, Abnormality of the gastrointestinal tract, Abnormality of the genitourinary system, Abnormality of the head, Abnormality of the immune system, Abnormality of the integument, Abnormality of the kidney, Abnormality of the lung, Abnormality of the mouth, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the oral cavity, Abnormality of the peripheral nervous system, Abnormality of the respiratory system, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the stomach, Abnormality of the sweat gland, Abnormality of the tongue, Abnormality of the upper urinary tract, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of the vertebral column, Abnormal joint morphology, Abnormal muscle tone, Abnormal peripheral myelination, Acrocyanosis, Age of onset, Alacrima, All, Arrhythmia, Arthropathy, Autosomal recessive inheritance, Azotemia, Behavioural/Psychiatric Abnormality, Congenital onset, Constipation, Corneal erosions, Cyanosis, Decreased corneal reflex, Decreased lacrimation, Decreased number of large peripheral myelinated nerve fibers, Decreased number of peripheral myelinated nerve fibers, Decreased sensitivity to hypoxemia, Decreased taste sensation, Dermatological manifestations of systemic disorders, Diarrhea, Elevated serum creatinine, Emotional lability, Episodic fever, Episodic hyperhidrosis, Fever, Functional respiratory abnormality, Gastroesophageal reflux, Generalized abnormality of skin, Glomerulosclerosis, Growth abnormality, Growth delay, Hyperhidrosis, Hypertension, Hypotension, Incoordination, Increased blood urea nitrogen (BUN), Lacrimation abnormality, Mode of inheritance, Morphological abnormalities of the glomeruli, Muscular hypotonia, Nausea and vomiting, Neuropathic arthropathy, Onset, Onset and clinical course, Orthostatic hypotension, Pace of progression, Phenotypic abnormality, Progressive disorder, Recurrent corneal erosions, Recurrent infections, Recurrent infections due to aspiration, Recurrent respiratory infections, Respiratory tract infection, Scoliosis, Tachycardia, Vomiting.