221858 0009830 Peripheral neuropathy 1130172 0001118 Juvenile cataract 0000141 Amenorrhea 1247403 0000518 Cataract 1333927 0000939 Osteoporosis 0001249 Intellectual disability 0001288 Gait disturbance 0000519 Congenital cataract 0001251 Ataxia 0001285 Spastic tetraparesis 0011096 Peripheral demyelination 0002353 EEG abnormality 1363642 0000518 Cataract 0001251 Ataxia 0009830 Peripheral neuropathy 0000787 Nephrolithiasis 1494725 0001118 Juvenile cataract 0001268 Mental deterioration 0001285 Spastic tetraparesis 1528440 0002059 Cerebral atrophy 0001272 Cerebellar atrophy 1649488 0009830 Peripheral neuropathy 0011096 Peripheral demyelination 1817044 0000938 Osteopenia 0000518 Cataract 0004416 Precocious atherosclerosis 0001268 Mental deterioration 0000939 Osteoporosis 1865593 0001300 Parkinsonism 0002304 Akinesia 0002063 Rigidity 0002322 Resting tremor 0002378 Hand tremor 0002120 Cerebral cortical atrophy 0002119 Ventriculomegaly 0001272 Cerebellar atrophy 1908036 0010874 Tendon xanthomatosis 0000726 Dementia 0001249 Intellectual disability 1914325 0000821 Hypothyroidism 0100028 Ectopic thyroid 0100543 Cognitive impairment 0001317 Abnormality of the cerebellum 0002621 Atherosclerosis 1915172 0011145 Symptomatic seizures 1934787 0002313 Spastic paraparesis 0002067 Bradykinesia 0001268 Mental deterioration 0000518 Cataract 0002064 Spastic gait 0002078 Truncal ataxia 0001272 Cerebellar atrophy 0002353 EEG abnormality 2020870 0000991 Xanthomatosis 2066659 0001677 coronary artery disease 2072121 0010874 Tendon xanthomatosis 0000518 Cataract 0001317 Abnormality of the cerebellum 0009830 Peripheral neuropathy 0001760 Abnormality of the foot 0002621 Atherosclerosis 0002353 EEG abnormality 0002922 Increased CSF protein 2107278 0000519 Congenital cataract 0000726 Dementia 0001288 Gait disturbance 0009830 Peripheral neuropathy 2114502 0001118 Juvenile cataract 0010920 Zonular cataract 2152046 0000991 Xanthomatosis 0000519 Congenital cataract 2190743 0001250 Seizures 0001249 Intellectual disability 0000519 Congenital cataract 0001347 Hyperreflexia 0001251 Ataxia 2196342 0000518 Cataract 0001268 Mental deterioration 0001251 Ataxia 0001336 Myoclonus 0007141 Sensorimotor neuropathy 0003450 Axonal regeneration 2265509 0001300 Parkinsonism 0001268 Mental deterioration 0000518 Cataract 0001251 Ataxia 0002322 Resting tremor 0002063 Rigidity 0002067 Bradykinesia 0006879 Pontocerebellar atrophy 2303834 0000726 Dementia 0001285 Spastic tetraparesis 0001317 Abnormality of the cerebellum 2329221 0000518 Cataract 0000726 Dementia 2611184 0000520 Proptosis 2614461 0010980 Hyperlipoproteinemia 0010874 Tendon xanthomatosis 0000518 Cataract 0000726 Dementia 0001251 Ataxia 0007256 Abnormality of pyramidal motor function 0009830 Peripheral neuropathy 2831311 0001271 Polyneuropathy 0009830 Peripheral neuropathy 2994606 0009830 Peripheral neuropathy 3017187 0007108 Demyelinating peripheral neuropathy 0000726 Dementia 0011096 Peripheral demyelination 3066249 0000518 Cataract 0000726 Dementia 0001251 Ataxia 0007024 Pseudobulbar paralysis 0002483 Bulbar signs 0004326 Cachexia 0000708 Behavioural/Psychiatric Abnormality 3344851 0000708 Behavioural/Psychiatric Abnormality 3665290 0000518 Cataract 0001268 Mental deterioration 0007256 Abnormality of pyramidal motor function 0001317 Abnormality of the cerebellum 0001249 Intellectual disability 6410671 0100543 Cognitive impairment 0000518 Cataract 6504105 0010874 Tendon xanthomas 0000518 Cataract 0000726 Dementia 0009830 Peripheral neuropathy 0001317 Abnormality of the cerebellum 6820431 0000991 Xanthomatosis 6886686 0000716 Depression 0000726 Dementia 7070978 0000518 Cataract 0000991 Xanthomatosis 7258222 0004870 Chronic hemolytic anemia 7315872 0000518 Cataract 7485361 0001138 Optic neuropathy 0002028 Chronic diarrhea 0002344 Progressive neurologic deterioration 0010874 Tendon xanthomatosis 7737249 0000787 Nephrolithiasis 0000121 Nephrocalcinosis 0001947 Renal tubular acidosis 7920069 0007256 Abnormality of pyramidal motor function 0001317 Abnormality of the cerebellum 0001271 Polyneuropathy 8195796 0011096 Peripheral demyelination 0000969 Edema 8240840 0000726 Dementia 0000518 Cataract 0001251 Ataxia 0009830 Peripheral neuropathy 8309576 0100543 Cognitive impairment 0009830 Peripheral neuropathy 0002353 EEG abnormality 8445406 0010874 Tendon xanthomatosis 8597991 0100309 Subdural hemorrhage 0000519 Congenital cataract 0011096 Peripheral demyelination 0003477 Peripheral axonal neuropathy 0002171 Gliosis 8650430 0003326 Myalgia 0003487 Babinski sign 0001347 Hyperreflexia 0000519 Congenital cataract 8730343 0000991 Xanthomatosis 8778269 0010874 Tendon xanthomatosis 0001249 Intellectual disability 0001251 Ataxia 0000519 Congenital cataract 8791252 0000518 Cataract 0000726 Dementia 0001251 Ataxia 9064170 0001251 Ataxia 195 200 9080765 0000939 Osteoporosis 9578968 0001118 Juvenile cataract 0001317 Abnormality of the cerebellum 0001270 Motor delay 10430841 0000991 Xanthomatosis 0002500 Abnormality of the cerebral white matter 10741487 0001945 Fever 10768627 0010874 Tendon xanthomatosis 0000518 Cataract 0001249 Intellectual disability 0001317 Abnormality of the cerebellum 0002028 Chronic diarrhea 0002041 Intractable diarrhea 10795535 0002059 Cerebral atrophy 10885331 0003124 Hypercholesterolemia 0002317 Unsteady gait 0001260 Dysarthria 0002168 Scanning speech 0002078 Truncal ataxia 0001347 Hyperreflexia 0100275 Diffuse cerebellar atrophy 10899446 0003198 Myopathy 0001271 Polyneuropathy 11137513 0001300 Parkinsonism 11361235 0001249 Intellectual disability 0000519 Congenital cataract 0001251 Ataxia 0001257 Spasticity 0010874 Tendon xanthomatosis 11464194 0003698 Difficulty standing 0000518 Cataract 0001249 Intellectual disability 0001257 Spasticity 0010874 Tendon xanthomatosis 11561482 0001118 Juvenile cataract 0011010 Chronic 0010874 Tendon xanthomatosis 11737215 0002748 Rickets 12141707 0000708 Behavioural/Psychiatric Abnormality 0002342 Intellectual disability, moderate 0000737 Irritability 0004396 Poor appetite 0100785 Insomnia 12486565 0002066 Gait ataxia 0002313 Spastic paraparesis 0001271 Polyneuropathy 0000518 Cataract 0010874 Tendon xanthomatosis 0100543 Cognitive impairment 0002028 Chronic diarrhea 12487962 0007199 Progressive spastic paraparesis 0000518 Cataract 14652454 0001118 Juvenile cataract 0001249 Intellectual disability 0001251 Ataxia 14742951 0100660 Dyskinesia 0001373 Joint dislocation 15147532 0002634 Arteriosclerosis 15608974 0002028 Chronic diarrhea 0000519 Congenital cataract 0002070 Limb ataxia 0000991 Xanthomatosis 16157755 0007819 Presenile cataracts 0010874 Tendon xanthomatosis 0002014 Diarrhea 0100543 Cognitive impairment 16278884 0000726 Dementia 0001249 Intellectual disability 0000518 Cataract 0001251 Ataxia 0001272 Cerebellar atrophy 16445943 0001271 Polyneuropathy 16715243 0010874 Tendon xanthomatosis 17319284 0001271 Polyneuropathy 17444890 0010874 Tendon xanthomatosis 17583829 0000726 Dementia 0002066 Gait ataxia 0001271 Polyneuropathy 0000518 Cataract 17603722 0000991 Xanthomatosis 0000518 Cataract 0002621 Atherosclerosis 0003077 Hyperlipidemia 17718147 0001785 Ankle swelling 0000519 Congenital cataract 0001269 Hemiparesis 0001249 Intellectual disability 18051740 0001251 Ataxia 18458861 0000648 Optic atrophy 0001300 Parkinsonism 0000726 Dementia 0001272 Cerebellar atrophy 0002529 Neuronal loss in central nervous system 0011096 Peripheral demyelination 0002446 Astrocytosis 19117873 0002028 Chronic diarrhea 0000518 Cataract 19457308 0010874 Tendon xanthomatosis 0000518 Cataract 0002028 Chronic diarrhea 19746285 0002014 Diarrhea 0000519 Congenital cataract 0000708 Behavioural/Psychiatric Abnormality 19881113 0001118 Juvenile cataract 0002014 Diarrhea 0001249 Intellectual disability 0001251 Ataxia 0010874 Tendon xanthomatosis 20108380 0001300 Parkinsonism 20150306 0002171 Gliosis 20329433 0002069 Generalized tonic-clonic seizures 20414172 0000752 Hyperactivity 0010865 Oppositional defiant disorder 0001249 Intellectual disability 20450308 0000518 Cataract 0001263 Global developmental delay 0002014 Diarrhea 0000252 Microcephaly 0002019 Constipation 20454938 0100543 Cognitive impairment 0000518 Cataract 0002028 Chronic diarrhea 0000991 Xanthomatosis 21073839 0001268 Mental deterioration 0001249 Intellectual disability 0000518 Cataract 0002028 Chronic diarrhea 0001258 Spastic paraplegia 0011951 Aspiration pneumonia 21104094 0001257 Spasticity 0002313 Spastic paraparesis 0002493 Corticospinal tract dysfunction 21404287 0009830 Peripheral neuropathy 21627786 0002459 Dysautonomia 0001271 Polyneuropathy 21679699 0001257 Spasticity 0001288 Gait disturbance 21955034 0000991 Xanthomatosis 0003124 Hypercholesterolemia 21958693 0010874 Tendon xanthomatosis 0000518 Cataract 0000938 Osteopenia 0001249 Intellectual disability 0001251 Ataxia 0009830 Peripheral neuropathy 22018287 0011096 Peripheral demyelination 22133984 0000716 Depression 22197981 0001250 Seizures 22212991 0001317 Abnormality of the cerebellum 0009830 Peripheral neuropathy 0001249 Intellectual disability 0000518 Cataract 0010874 Tendon xanthomatosis 22527785 0001300 Parkinsonism 0001271 Polyneuropathy 22679194 0001249 Intellectual disability 0000519 Congenital cataract 22878431 0001271 Polyneuropathy 23001091 0001249 Intellectual disability 0000518 Cataract 0100512 Vitamin D deficiency 0000082 Abnormality of renal physiology 0002506 Diffuse cerebral atrophy 23115103 0001336 Myoclonus 0001332 Dystonia 23124517 0001300 Parkinsonism 0100543 Cognitive impairment 23375591 0001118 Juvenile cataract 0100020 Posterior capsular cataract 0002014 Diarrhea 23417372 0001268 Mental deterioration 0001285 Spastic tetraparesis 0000518 Cataract