Amenorrhea, Arrhythmia, Arthralgia, Arthropathy, Ascites, Asthma, Atrial fibrillation, Atrial flutter, Azoospermia, Behavioral abnormality, Biliary cirrhosis, Bronchiectasis, Cardiomegaly, Cardiomyopathy, Cataract, Cephalohematoma, Cerebral atrophy, Cholelithiasis, Cholestasis, Chondrocalcinosis, Chronic lung disease, Cirrhosis, Congestive heart failure, Cor pulmonale, Cryptorchidism, Decreased circulating antibody level, Decreased fetal movement, Dehydration, Delayed onset bleeding, Diabetes mellitus, Dysphagia, EMG abnormality, Elevated circulating hepatic transaminase concentration, Elevated sweat chloride, Exocrine pancreatic insufficiency, Facial diplegia, Facial palsy, Failure to thrive, Fatigue, Feeding difficulties in infancy, First degree atrioventricular block, Frontal balding, Gait disturbance, Gastrointestinal hemorrhage, Gastroschisis, Generalized hypotonia, Global developmental delay, Glucose intolerance, Gynecomastia, Hematuria, Hepatic steatosis, Hepatocellular carcinoma, Hepatomegaly, Hip dislocation, Homocystinuria, Hydrocephalus, Hypercalciuria, Hyperhomocystinemia, Hyperpigmentation of the skin, Hypogonadism, Hypogonadotropic hypogonadism, Hypotonia, Immunodeficiency, Impotence, Incoordination, Increased circulating ferritin concentration, Increased serum iron, Intellectual disability, progressive, Intellectual disability, severe, Intracranial hemorrhage, Intramuscular hematoma, Joint dislocation, Joint hemorrhage, Leukoencephalopathy, Limitation of joint mobility, Malabsorption, Male infertility, Mask-like facies, Meconium ileus, Menometrorrhagia, Microcephaly, Migraine, Muscle weakness, Myofibromatosis, Myotonia, Non-midline cleft of the upper lip, Nonarteritic anterior ischemic optic neuropathy, Obsessive-compulsive trait, Osteoarthritis, Osteoporosis, Paresthesia, Peripheral neuropathy, Persistent bleeding after trauma, Pleural effusion, Polyhydramnios, Poor wound healing, Prolonged bleeding after dental extraction, Prolonged bleeding after surgery, Prolonged bleeding time, Prolonged partial thromboplastin time, Prolonged whole-blood clotting time, Pseudobulbar paralysis, Pulmonary fibrosis, Rectal prolapse, Recurrent bronchopulmonary infections, Recurrent pneumonia, Recurrent respiratory infections, Recurrent subcortical infarcts, Reduced factor IX activity, Respiratory distress, Retinopathy, Seizure, Skeletal muscle atrophy, Spasticity, Splenomegaly, Spontaneous, recurrent epistaxis, Strabismus, Stroke, Subcortical dementia, Telangiectasia, Testicular atrophy, Urinary incontinence, Varicose veins, Vertigo, Visual loss, obsolete Excessive daytime sleepiness, obsolete Hypotrichosis

small cerebellum