Abdominal symptom, Abnormal bone structure, Abnormalities of the peripheral arteries, Abnormality of bone mineral density, Abnormality of central motor function, Abnormality of central somatosensory evoked potentials, Abnormality of cholesterol metabolism, Abnormality of coordination, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of lipid metabolism, Abnormality of metabolism/homeostasis, Abnormality of muscle physiology, Abnormality of pyramidal motor function, Abnormality of skeletal morphology, Abnormality of somatosensory evoked potentials, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the anterior segment of the eye, Abnormality of the biliary system, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the cerebrum, Abnormality of the coronary arteries, Abnormality of the dentate nucleus, Abnormality of the esophagus, Abnormality of the eye, Abnormality of the eyelid, Abnormality of the face, Abnormality of the forebrain, Abnormality of the fundus, Abnormality of the gallbladder, Abnormality of the gastrointestinal tract, Abnormality of the head, Abnormality of the hindbrain, Abnormality of the integument, Abnormality of the larynx, Abnormality of the lens, Abnormality of the liver, Abnormality of the lung, Abnormality of the metencephalon, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the ocular region, Abnormality of the optic nerve, Abnormality of the periorbital region, Abnormality of the peripheral nervous system, Abnormality of the periventricular white matter, Abnormality of the posterior segment of the eye, Abnormality of the respiratory system, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the systemic arterial tree, Abnormality of the upper respiratory tract, Abnormality of the vasculature, Abnormality of the voice, Abnormal tendon morphology, All, Angina pectoris, Aplasia/Hypoplasia involving the central nervous system, Arterial stenosis, Arteriosclerosis, Ataxia, Atherosclerosis, Atrophy/Degeneration affecting the central nervous system, Atrophy/Degeneration affecting the cerebrum, Autosomal recessive inheritance, Behavioural/Psychiatric Abnormality, Cataract, Cerebellar atrophy, Cerebral atrophy, Cholelithiasis, Cognitive impairment, Coronary artery disease, Cysts of the eyelid, Delusions, Dementia, Diarrhea, Dysarthria, Dysphagia, Dysphonia, EEG abnormality, EEG with abnormally slow frequencies, EEG with generalized slow activity, EMG abnormality, EMG: axonal abnormality, Functional respiratory abnormality, Hypertonia, Intellectual disability, Leukoencephalopathy, Localized skin lesion, Mental deterioration, Mode of inheritance, Morphological abnormality of the central nervous system, Myocardial infarction, Neurological speech impairment, Neurophysiological abnormality, Nodular changes affecting the eyelids, Optic disc pallor, Osteoporosis, Peripheral neuropathy, Phenotypic abnormality, Pseudobulbar paralysis, Pseudobulbar signs, Reduced bone mineral density, Respiratory insufficiency, Seizures, Skin cysts, Skin nodule, Skin papules, Spasticity, Tendon xanthomatosis, Xanthelasma, Xanthomatosis.