| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Abnormal auditory evoked potentials, Sensorineural hearing impair... |
OMIM:609129 |
| Deafness, Autosomal Recessive 9 |
|
Absence of acoustic reflex, Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
| Deafness, Autosomal Recessive 104 |
|
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... |
OMIM:616515 |
| Episodic Ataxia, Type 1 |
|
Elevated circulating creatine kinase concentration, Tremor, Slurred speech, Spastic gait, Babinsk... |
OMIM:160120 |
| Optic Atrophy 2 |
|
Tremor, Babinski sign, Optic atrophy, Dysdiadochokinesis |
OMIM:311050 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Tetraparesis, Abnormal pyramidal sign, Ataxia, Tremor, Hypertriglyceridemia, Myoclonu... |
OMIM:615924 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Mildly elevated creatine kinase, Hearing impairment |
OMIM:614369 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, Tremor, Giant somatosensory e... |
OMIM:601068 |
| Deafness, Autosomal Recessive 48 |
|
Profound sensorineural hearing impairment, Abnormal vestibular function |
OMIM:609439 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Ataxia |
OMIM:613227 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hearing impa... |
OMIM:144300 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity |
OMIM:601382 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia |
OMIM:264070 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Jerk-locked premyoclonus spikes, Tremor, Myoclonus, EEG with polyspike wave complexes, Enhancemen... |
OMIM:615127 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity, Hearing impairment |
ORPHA:217012 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... |
ORPHA:79506 |
| Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials, Sensorineural hea... |
OMIM:616648 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Abnormality of extrapyramidal motor function, Hearing impairment, Tremor, Opti... |
OMIM:165300 |
| Spastic Paraparesis And Deafness |
|
Tremor, Hearing impairment, Spastic paraparesis |
OMIM:312910 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, Tremor, Giant somatosensory e... |
OMIM:613608 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Sandhoff Disease, Adult Form |
|
Spasticity, Elevated circulating creatine kinase concentration, Focal dystonia, Tremor, Gait atax... |
ORPHA:309169 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Ataxia, Hemiplegia, Abnormality of extrapyramidal motor func... |
OMIM:614561 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Primary Dystonia, Dyt27 Type |
|
Limb dystonia, Axial dystonia, Upper limb postural tremor, Focal dystonia, Writer's cramp, Oroman... |
ORPHA:464440 |
| Spinocerebellar Ataxia 43 |
|
Limb ataxia, Ataxia, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Hypertriglyceridemia, Granulocytopenia |
OMIM:608898 |
| Dystonia 27 |
|
Limb dystonia, Torticollis, Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Head tremor, Gait ataxia, Tremor by anatomical site, Action t... |
ORPHA:98769 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Babinski sign, Spasticity, Ataxia |
OMIM:611105 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Elevated circulating creatine kinase concentration, Fasciculations |
OMIM:615048 |
| Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Progressive cerebellar ataxia, Ataxia, Clumsiness, Abnor... |
OMIM:277460 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Abnormal pyramidal sign, Oculomotor apraxia, Hypercholesterolemia, Ataxia, Elevated circulating a... |
ORPHA:64753 |
| Fish-Eye Disease |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
OMIM:136120 |
| Tremor, Hereditary Essential, 5 |
|
Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor |
OMIM:616736 |
| Tremor, Hereditary Essential, 6 |
|
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
| Spinocerebellar Ataxia 20 |
|
Abnormal pyramidal sign, Limb ataxia, Postural tremor, Palatal tremor, Gait ataxia, Action tremor |
OMIM:608687 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Splenomegaly |
OMIM:619175 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Limb ataxia, Oculomotor apraxia, Ataxia, Elevated circulating creatine kinase concentration, Chor... |
OMIM:208920 |
| Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Bone-marrow foam cells, Anemia, Sea-blue histiocytosis, ... |
OMIM:607616 |
| Segawa Syndrome, Autosomal Recessive |
|
Limb dystonia, Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Abn... |
OMIM:605407 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Sensorineural hearing impairment, Elevated circulating creatine kinase conc... |
OMIM:610717 |
| Glut1 Deficiency Syndrome 2 |
|
Reduced haptoglobin level, Reticulocytosis, Ataxia, Hemolytic anemia, EEG abnormality, Splenomega... |
OMIM:612126 |
| Primary Dystonia, Dyt13 Type |
|
Limb dystonia, Torticollis, Postural tremor, Generalized dystonia, Focal dystonia, Action tremor,... |
ORPHA:98807 |
| Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Chorea, Tremor, Myoclonus, Torsi... |
OMIM:314250 |
| Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
OMIM:615703 |
| Dystonia, Dopa-Responsive |
|
Spasticity, Torticollis, Cogwheel rigidity, Parkinsonism with favorable response to dopaminergic ... |
OMIM:128230 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Ataxia-Oculomotor Apraxia 4 |
|
Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Elevated circulating alpha-fetoprotein conce... |
OMIM:616267 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, EEG with generalized epileptiform discharges, Myoclonus, Ataxia |
OMIM:616187 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased motor nerve conduction velocity, Hypercholesterolemia, Ataxia, Hypoalbuminemia |
OMIM:607250 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia |
OMIM:615945 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Spasticity, Tetraparesis, Limb dystonia, Abnormal pyramidal sign, Ataxia, Tremor, Hypertriglyceri... |
ORPHA:363400 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Hyperkinetic movements, Torticollis, Ataxia, Chorea, Tremor, Dystonia |
OMIM:618425 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Abnormal sensory nerve conduction velocity, Elevated circulating creatine kinase concentration, T... |
ORPHA:276435 |
| Myoclonus, Familial, 1 |
|
Frequent falls, Ataxia, Action myoclonus, Myoclonus, Action tremor |
OMIM:614937 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Lower limb spasticity, Parkinsonism with favorable response to dopaminergic medicat... |
OMIM:260300 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Hyperkinetic movements, Chorea, Tremor, Hemiballismus |
OMIM:616921 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Parkinsonism, Ataxia, Rigidity, Chorea, Tremor, Myoclonus, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Cataract-Ataxia-Deafness Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Tremor, Adult onset sensorineural hearing impairment... |
ORPHA:1368 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Increased circulating ferritin ... |
OMIM:603552 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Ataxia, Tremor, Gait ataxia, My... |
OMIM:607317 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Parkinsonism, Ankle clonus, Scissor gait, Hypermanganesemia, Tremor, Bradykinesia, Or... |
ORPHA:521406 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus, Interictal epileptiform activity |
OMIM:615400 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia |
ORPHA:423296 |
| Spinocerebellar Ataxia 40 |
|
Ataxia, Ankle clonus, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Dysmetria, Spast... |
OMIM:616053 |
| Spinocerebellar Ataxia Type 20 |
|
Abnormal pyramidal sign, Kinetic tremor, Isometric tremor, Ataxia, Upper limb postural tremor, Ga... |
ORPHA:101110 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Hypertriglyceridemia, Low-frequency sensorineural h... |
OMIM:613101 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Decreased motor nerve conduction velocity, Hearing impairment, Head tremor, Intentio... |
OMIM:613724 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Spastic dysarthria, Hypercholesterolemia, Ataxia, Hypoalbuminemia |
ORPHA:94124 |
| Crigler-Najjar Syndrome Type 1 |
|
Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Hearing impairment |
ORPHA:79234 |
| Papular Xanthoma |
|
Hyperlipidemia, Histiocytosis |
ORPHA:158008 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hemolytic anemia, Normochromic anemia |
OMIM:245900 |
| Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Parkinsonism, Cogwheel rigidity, Bradykinesia, Resting tremor, Babinski sign |
OMIM:300911 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration |
OMIM:610947 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the seventh cranial nerve, Fatiguable weakness of proximal limb muscles, Limb fasc... |
ORPHA:90117 |
| Mohr-Tranebjaerg Syndrome |
|
Abnormal pyramidal sign, Absent brainstem auditory responses, Ankle clonus, Apraxia, Generalized ... |
ORPHA:52368 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
OMIM:615863 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
| Monomelic Amyotrophy |
|
Tremor, Abnormality of peripheral nerve conduction, Fasciculations |
ORPHA:65684 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Hemiballismus, Frequent falls, Chorea |
ORPHA:494526 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hyperphenylalaninemia, Tremor, Myoclonus, Hypertonia, Choreoathetosis, Dystonia |
OMIM:261630 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Hypsarrhythmia |
OMIM:619561 |
| Parkinsonism With Polyneuropathy |
|
Parkinsonism with favorable response to dopaminergic medication, Decreased amplitude of sensory a... |
OMIM:619279 |
| Epilepsy, Progressive Myoclonic, 6 |
|
EEG with spike-wave complexes, Ataxia, Elevated circulating creatine kinase concentration, Tremor... |
OMIM:614018 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Abnormal pyramidal sign, Low-set ears, Ataxia, Ankle clonus, Posteriorly rotated ears, Exaggerate... |
OMIM:618598 |
| Distal Myopathy, Tateyama Type |
|
Clumsiness, Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
| Abcd Syndrome |
|
Abnormal auditory evoked potentials, Total intestinal aganglionosis, Aganglionic megacolon, Heari... |
OMIM:600501 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Frequent falls, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Clumsiness, Rig... |
ORPHA:216873 |
| Spinocerebellar Ataxia 38 |
|
Limb ataxia, Ataxia, Tremor, Gait ataxia, Myoclonus |
OMIM:615957 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... |
OMIM:144250 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
| Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiplegia, Hemiparesis, Ataxia |
OMIM:141500 |
| Spinocerebellar Ataxia Type 37 |
|
Cogwheel rigidity, Dysdiadochokinesis, Tremor, Limb dysmetria, Myoclonus, Sensorineural hearing i... |
ORPHA:363710 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
EEG abnormality, Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy |
OMIM:617519 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Abnormal pyramidal sign, Parkinsonism, Abnormal circulating calcium concentration, Rigidity, Athe... |
OMIM:213600 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... |
OMIM:619868 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment |
OMIM:125250 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Myoclonus, Babinski sign, Dysmetria |
OMIM:612437 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Spasticity, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocit... |
OMIM:609260 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal pyramidal sign, Ataxia, Clumsiness, Abnormality of extrapyramidal motor func... |
ORPHA:79262 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Abnormal nerve conduction velocity, Ataxia, Hearing impairment |
ORPHA:101075 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia, Splenomegaly |
OMIM:306000 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Spasticity, Ataxia, Clonus, Exaggerated startle response, Prolonged brainstem auditory evoked pot... |
OMIM:616881 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Elevated circulating phytanic acid concentration, Increased circulating very long-cha... |
OMIM:614307 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... |
OMIM:616516 |
| Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Myoclonus, Writer's cramp |
OMIM:159900 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly |
ORPHA:75234 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Increased circulating very long-chain fatty acid concentration, Ataxia, Lower limb spasticity, Tr... |
OMIM:617916 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Splenomegaly, Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Hearing impairment,... |
OMIM:601596 |
| Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia, Splenomegaly |
OMIM:614480 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
EEG with spike-wave complexes, Chorea, Tremor, Gait ataxia, Myoclonus, EEG with polyspike wave co... |
OMIM:618587 |
| Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia, Hearing impairment |
ORPHA:181393 |
| Cystathioninuria |
|
Tremor, Cystathioninemia, External ear malformation |
ORPHA:212 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Frequent falls, Torticollis, Ankle clonus, Head titubation, Spastic ataxia, Tremor, G... |
OMIM:611302 |
| Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Decreased nerve conduction velocity, Ataxia, Hearing impairment |
ORPHA:101078 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, Ataxia, Blepharospasm, Tremor... |
OMIM:607876 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Spastic tetraplegia, Absent brainstem auditory responses, Vestibular areflexia, Head titubation, ... |
ORPHA:3240 |
| Spinocerebellar Ataxia 50 |
|
Froment sign, Ataxia, Postural tremor, Apraxia, Chorea, Head tremor, Hearing impairment, Action t... |
OMIM:620158 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Aplastic anemia, Hemophagocytosis, Hypertriglyceridemia, Pancytopenia, Increased circulating ferr... |
OMIM:300635 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Limb ataxia, Ankle clonus, Tremor, Babinski sign, Truncal ataxia |
OMIM:615768 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia |
OMIM:600116 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Ataxia, Decreased LDL cholesterol concentration, Steatorrhea, Acanthocytosis, Hypertriglyceridemi... |
OMIM:615558 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatosplenomegaly, Increased LDL cholesterol concentration, Elevated circulating creatine kinase... |
OMIM:616828 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Frequent falls, EEG with persistent abnormal rhythmic activity, Ataxia, Clumsiness, Hemiplegia, D... |
ORPHA:206443 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Postural tremor, Rigidity, Tremo... |
ORPHA:314632 |
| Spinocerebellar Ataxia 18 |
|
Progressive gait ataxia, Dysdiadochokinesis, Tremor, Babinski sign, Dysmetria |
OMIM:607458 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Low-set ears, Ataxia |
OMIM:618951 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Hyperlipidemia, Tetraplegia, Fasciculations, Mildly elevated creatine kinase |
OMIM:604484 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Acute lymphoblastic leukemia, Neutropenia, Reduced ... |
ORPHA:158057 |
| Dystonia 28, Childhood-Onset |
|
Spasticity, Torticollis, Retrocollis, Tremor, Oromandibular dystonia, Laryngeal dystonia, Myoclon... |
OMIM:617284 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor, Bradyk... |
OMIM:607688 |
| Spinocerebellar Ataxia Type 12 |
|
Abnormal pyramidal sign, Parkinsonism, Ataxia, Postural tremor, Bradykinesia, Intention tremor, L... |
ORPHA:98762 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Limb ataxia, Lower limb spasticity, Spastic dysarthria, Spastic ataxia, Tremor, Spastic paraplegi... |
ORPHA:251282 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Ataxia, Paraparesis, Elevated circulating guanidinoacetic acid concentration, Decreased serum cre... |
OMIM:612736 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoproteinemia, Increased LDL cholesterol concentration, Leukopenia, Ataxia, Hemophagocytosis, A... |
OMIM:267700 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, EEG abnormality, Rigidity, Tremor, Bradykinesia, Dystonia |
OMIM:617836 |
| Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... |
OMIM:616000 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Oculomotor apraxia, Ataxia, Transient hyperphenylalaninemia, Tremor, Choreoathetosis,... |
OMIM:612716 |
| Spinocerebellar Ataxia 7 |
|
Spasticity, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chorea, ... |
OMIM:164500 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Spasticity, Ataxia, Abnormal pinna morphology, Tremor, Optic atrophy |
OMIM:300983 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Dysmetria |
OMIM:618387 |
| Morgagni-Stewart-Morel Syndrome |
|
Hyperuricemia, Hypercholesterolemia, Action tremor |
ORPHA:77296 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Frequent falls, Abnormal pyramidal sign, Limb myoclonus, Parkinsonism with favorable response to ... |
ORPHA:240103 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Dystonia |
OMIM:619651 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Frequent falls, Decreased sensory nerve conduction velocity, Leukocytosis, Motor conduction block... |
ORPHA:206594 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... |
OMIM:601455 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, Hypertonia, EEG with temporal focal spikes |
ORPHA:163985 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Paraparesis, Abnormal nerve conduction velocity, Tremor, Hearing impairment, Optic atrophy |
ORPHA:99014 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Abnormal pyramidal sign, Progressive cerebellar ataxia, Hearing impairment, Tremor, Myoclonus, Dy... |
ORPHA:139485 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
| Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Myoclonus, Babinski sign |
OMIM:615362 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Clonus, Tremor, Spastic paraplegia, Spastic gait, Babinski sign, Lower limb spasticity |
OMIM:600363 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, EEG with spike-wave complexes (2.5-3.5 Hz), Myoclonus, Ataxia |
OMIM:616366 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Gait ataxia, EEG abnormality, Ataxia |
OMIM:617831 |
| Immunodeficiency 97 With Autoinflammation |
|
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... |
OMIM:619802 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Abnormal pyramidal sign, Limb ataxia, Oculomotor apraxia, Ataxia, Dysdiadochokinesis, Tremor, Gai... |
OMIM:617145 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Spasticity, Parkinsonism, Ataxia, Blepharospasm, Rigidity, Writer's cramp, Tremor, Chorea, Bradyk... |
OMIM:606159 |
| Spinocerebellar Ataxia Type 14 |
|
Limb ataxia, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Myoclonus |
ORPHA:98763 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Upper limb postural tremor, Dysdiadochokinesis, Abnormal auditory evoked potentials, Abnormality ... |
ORPHA:99027 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Frequent falls, Elevated circulating creatine kinase concentration, Tremor, Facial palsy, Myoclon... |
OMIM:159950 |
| Urocanic Aciduria |
|
Ataxia, Abnormal circulating histidine concentration, Gait ataxia, Action tremor, Truncal ataxia |
ORPHA:210128 |
| Corticobasal Syndrome |
|
Limb dystonia, Limb myoclonus, Parkinsonism, Oromotor apraxia, Speech apraxia, Tremor, Bradykines... |
ORPHA:454887 |
| Saccharopinuria |
|
Hyperammonemia, Spastic diplegia, Elevated plasma citrulline, Tremor, Gait ataxia, Hypercystinemi... |
ORPHA:3124 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Ataxia, Progressive extrapyramidal movement disorder, Chorea, Hearing impairment, Resting tremor,... |
ORPHA:401768 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... |
ORPHA:1215 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hyperammonemia, Hypercholesterolemia, Increased C-peptide level |
OMIM:620211 |
| Citrullinemia Type Ii |
|
Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Tremor, Hyperlipidemia, Hypert... |
ORPHA:247585 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Hyperkinetic movements, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Cogwheel rigidity, ... |
OMIM:613135 |
| Primary Dystonia, Dyt2 Type |
|
Limb dystonia, Torticollis, Blepharospasm, Generalized dystonia, Tremor, Torsion dystonia, Involu... |
ORPHA:99657 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Myoclonic spasms, EEG with generalized slow activity grade 4, Ataxia, Clumsiness, Cho... |
ORPHA:79263 |
| Peroxisome Biogenesis Disorder 5B |
|
Elevated circulating phytanic acid concentration, Oculomotor apraxia, Ataxia, Tremor, Sensorineur... |
OMIM:614867 |
| Galactokinase Deficiency |
|
Hepatosplenomegaly, Hypergalactosemia, Increased level of galactitol in plasma, Speech apraxia, S... |
ORPHA:79237 |
| Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... |
ORPHA:521 |
| Dystonia 12 |
|
Parkinsonism, Torticollis, Tremor, Bradykinesia, Dystonia |
OMIM:128235 |
| Hypermanganesemia With Dystonia 1 |
|
Parkinsonism, Polycythemia, Abnormality of extrapyramidal motor function, Hypermanganesemia, Rigi... |
OMIM:613280 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Abnormal autonomic nervous system physiology, Rigidity, Tremor, Bradykinesia, Optic... |
ORPHA:329284 |
| Spinocerebellar Ataxia 23 |
|
Limb ataxia, Tremor, Gait ataxia, Babinski sign, Dysmetria |
OMIM:610245 |
| Hsd10 Disease |
|
Ataxia, Rigidity, Hearing impairment, Tremor, Myoclonus, Optic atrophy, Choreoathetosis, Spastic ... |
ORPHA:391417 |
| Smith-Magenis Syndrome |
|
EEG abnormality, Hearing impairment, Hypertriglyceridemia, Morphological abnormality of the middl... |
OMIM:182290 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Parkinsonism, Ataxia, Oculogyric crisis, Abnormal autonomic nervous system physiology, Dysdiadoch... |
OMIM:618049 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Sensorineural hearing impairme... |
OMIM:610185 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Frequent falls, Hepatosplenomegaly, Limb myoclonus, Eyelid myoclonus, High-frequency sensorineura... |
ORPHA:2590 |
| Cog4-Cdg |
|
Hepatosplenomegaly, Ataxia, Limb hypertonia, Thrombocytopenia, Hypercholesterolemia |
ORPHA:263501 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Poor fine motor coordination, Hypercholesterolemia |
ORPHA:254531 |
| Neuroectodermal Melanolysosomal Disease |
|
Spasticity, Ataxia, Rigidity, Tremor, Optic atrophy, Hypertonia |
ORPHA:33445 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor, Sensorineural hearing impairment |
ORPHA:66633 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Spasticity, EEG abnormality, Apraxia, Tremor, Gait ataxia, Optic atrophy, Dysmetria |
OMIM:617810 |
| Developmental And Epileptic Encephalopathy 68 |
|
Spasticity, Exaggerated startle response, Myoclonus, Clonus |
OMIM:618201 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Ataxia, Dysmetria |
OMIM:617917 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Limb dystonia, Torticollis, Blepharospasm, Writer's cramp, Tremor, Oromandibular dystonia, Torsio... |
OMIM:607671 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Parkinsonism, Hyperphenylalaninemia, Ataxia, Limb hypertonia, Rigidity, Tremor, Bradykinesia, Hyp... |
OMIM:261640 |
| Spinocerebellar Ataxia 48 |
|
Parkinsonism, Ataxia, Chorea, Tremor, Gait ataxia, Babinski sign, Dystonia, Dysmetria |
OMIM:618093 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Tremor, Macrotia |
OMIM:616269 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Hyperkinetic movements, Hyperphenylalaninemia, Limb hypertonia, Rigidity, Tremor, Choreoathetosis... |
OMIM:233910 |
| Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hype... |
OMIM:207750 |
| Temple Syndrome |
|
Hypertriglyceridemia, Posteriorly rotated ears, Hypercholesterolemia |
OMIM:616222 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Rigidity, Tremor, Thrombocytopenia, Splenomegaly, Dystonia |
OMIM:615010 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatosplenomegaly, Hypoproteinemia, Leukopenia, Ataxia, Hemophagocytosis, Anemia, Hemiplegia, In... |
OMIM:603553 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Tremor, Myoclonus, Lower limb spasticity, Dysmetria |
OMIM:619028 |
| Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, EEG abnormality, Athetosis, Tremor, Hypertonia |
OMIM:617106 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hemophagocytosis, Anemia, Hypertriglyceridemia, Pancytopenia, Increased circulating ferritin conc... |
OMIM:618398 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia |
OMIM:278780 |
| Cholesteryl Ester Storage Disease |
|
Hepatosplenomegaly, Increased LDL cholesterol concentration, Leukopenia, Bone-marrow foam cells, ... |
OMIM:278000 |
| Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia, Hemolytic anemia |
OMIM:177000 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Ankle clonus, Optic disc pallor, Exaggerated startle response, Spastic paraplegia, Babinski sign,... |
OMIM:609541 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:280356 |
| Neuronal Intranuclear Inclusion Disease |
|
Decreased sensory nerve conduction velocity, Ataxia, Rigidity, Decreased motor nerve conduction v... |
OMIM:603472 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Facial diplegia, Elevated circulating apo... |
OMIM:205400 |
| Parkinson Disease 17 |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Resting tremor |
OMIM:614203 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Multiple System Atrophy |
|
Frequent falls, Abnormal pyramidal sign, Parkinsonism, Autonomic erectile dysfunction, Progressiv... |
ORPHA:102 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
| Oculopharyngodistal Myopathy 3 |
|
Conductive hearing impairment, Ataxia, Elevated circulating creatine kinase concentration, Tremor... |
OMIM:619473 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Tremor, Decreased motor nerve conduction velocity |
OMIM:607734 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Elevated circulating creatine kinase concentration, Fasciculations |
OMIM:313200 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Limb ataxia, Ataxia, Limb fasciculations, Paraparesis, Apraxia, Dysdiadochokinesis, Tremor, Gait ... |
OMIM:615157 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Titubation, Elevated circulating creatine kinase concentration, Tremor, Increased serum p... |
OMIM:619405 |
| Macrophage Activation Syndrome |
|
Hemophagocytosis, Anemia, Neutropenia, Hypertriglyceridemia, Abnormal natural killer cell count, ... |
ORPHA:158061 |
| Sitosterolemia 1 |
|
Episodic hemolytic anemia, Reduced haptoglobin level, Elevated circulating sitosterol concentrati... |
OMIM:210250 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Eyelid myoclonus, Ataxia |
OMIM:616421 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Clonus, Titubation, Chorea, Tre... |
ORPHA:397946 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Limb ataxia, Ataxia, Tremor, Gait ataxia, Incoordination, Dysmetria |
OMIM:213200 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
| Myopathy With Extrapyramidal Signs |
|
Frequent falls, Leukocytosis, Ataxia, Clonus, Clumsiness, Hypervalinemia, Abnormality of extrapyr... |
OMIM:615673 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia |
OMIM:617885 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic... |
OMIM:619313 |
| Nephrotic Syndrome, Type 14 |
|
Ataxia, Lymphopenia, Hypertriglyceridemia, Sensorineural hearing impairment, Hypoalbuminemia |
OMIM:617575 |
| Hypermanganesemia With Dystonia 2 |
|
Spasticity, Limb dystonia, Parkinsonism, Clumsiness, Ankle clonus, Generalized dystonia, Scissor ... |
OMIM:617013 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Spasticity, Spastic tetraplegia, Optic nerve hypoplasia, Chorea, Exaggerated startle response, EE... |
OMIM:617864 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hemolytic anemia, Hypertonia, Abnormal auditory evoked potentials, Sensorineural h... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hemolytic anemia, Hypertonia, Abnormal auditory evoked potentials, Sensorineural h... |
ORPHA:529799 |
| Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Hemophagocytosis, Increased circulating ferritin concentration, Hepatospl... |
ORPHA:167 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebral atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing i... |
OMIM:619260 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... |
OMIM:605814 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Microcytic anemia, Hypoalbuminemia |
OMIM:619013 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Hemiparesis, Tremor, Bradykinesia, Dystonia |
ORPHA:306669 |
| Hypercholesterolemia, Familial, 3 |
|
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:603776 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... |
ORPHA:98849 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Oculomotor apraxia, Ataxia, Rigidity, Tremor, Optic atrophy, Choreoathetosis, Dystonia |
OMIM:612438 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Frequent falls, Hand tremor, Paraparesis, Decreased motor nerve conduction velocity, Tremor, Sens... |
OMIM:302800 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Limb dystonia, Torticollis, Hand tremor, Blepharospasm, Upper limb postural tremor, Oromandibular... |
ORPHA:420485 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Tremor, Sensorineural hearing impairment, Decreased motor nerve conduction velocity |
OMIM:118300 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic tetraplegia, Parkinsonism, Ataxia, Apraxia, Tremor, Bradykinesia, EEG with generalized sl... |
OMIM:300055 |
| Lcat Deficiency |
|
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... |
ORPHA:650 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly |
OMIM:618394 |
| Hyperlipoproteinemia, Type I |
|
Hepatosplenomegaly, Splenomegaly, Hyperlipidemia, Lactescent serum, Hypercholesterolemia, Increas... |
OMIM:238600 |
| Tay-Sachs Disease |
|
Frequent falls, Hepatosplenomegaly, Progressive spasticity, Clumsiness, Ankle clonus, Decerebrate... |
ORPHA:845 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Spasticity, Frequent falls, Limb ataxia, Tremor, Gait ataxia, Splenomegaly |
OMIM:616719 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor, Bradykinesia, ... |
ORPHA:240085 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia |
OMIM:608600 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
OMIM:618620 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Leg dystonia, Blepharospasm, Parkinsonism with favorable response to dopaminergic medication, Pos... |
OMIM:606324 |
| Dystonia 24 |
|
Torticollis, Blepharospasm, Limb tremor, Head tremor, Oromandibular dystonia, Arm dystonia |
OMIM:615034 |
| Parkinson Disease 14, Autosomal Recessive |
|
Spasticity, Parkinsonism, Eyelid myoclonus, Hand tremor, Hemiparesis, Axial dystonia, Clumsiness,... |
OMIM:612953 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
| Cln5 Disease |
|
Spasticity, EEG with spike-wave complexes, Ataxia, Poor gross motor coordination, Clumsiness, Abn... |
ORPHA:228360 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine concentratio... |
ORPHA:247598 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Tremor, Babinski sign, Low-set ears, Spastic paraplegia |
ORPHA:477673 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Tremor, Gait ataxia, Rigidity, Dysmetria |
OMIM:618090 |
| Mohr-Tranebjaerg Syndrome |
|
Spasticity, Tremor, Progressive sensorineural hearing impairment, Postlingual sensorineural heari... |
OMIM:304700 |
| Adult Krabbe Disease |
|
Spasticity, Tetraparesis, Frequent falls, Upper motor neuron dysfunction, Ataxia, Prolonged brain... |
ORPHA:206448 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Progressive spastic paraplegia, Optic disc pallor, Abnormality of extrapyramidal motor function, ... |
ORPHA:320406 |
| Autosomal Dominant Cerebellar Ataxia |
|
Progressive cerebellar ataxia, Rigidity, Laryngeal dystonia, Fasciculations, Dystonia, Spasticity... |
ORPHA:99 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Myoclonus, Ataxia |
OMIM:616494 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Low-set ears, Ataxia, Tremor, Gait ataxia, Large fleshy ears, Myoclonus, Overfolded helix, Hypert... |
OMIM:619092 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Anemia, Neutropenia, Hypertriglyceridemia, Thrombocytopenia, Sensorineural hear... |
ORPHA:540 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Tremor, Hypohomocysteinemia, Hypocystinemia, Decreased serum creatinine |
OMIM:617744 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Ataxia, Hemophagocytosis, Anemia, Hyperproteinemia, Hypertriglyceridemia, Abnormal natural killer... |
ORPHA:158048 |
| Inherited Creutzfeldt-Jakob Disease |
|
Abnormal pyramidal sign, Progressive cerebellar ataxia, EEG with persistent abnormal rhythmic act... |
ORPHA:282166 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... |
ORPHA:567548 |
| X-Linked Dystonia-Parkinsonism |
|
Frequent falls, Limb dystonia, Hand tremor, Blepharospasm, Parkinsonism with favorable response t... |
ORPHA:53351 |
| Dopa-Responsive Dystonia |
|
Parkinsonism, Leg dystonia, Poor coordination, Oculogyric crisis, Generalized dystonia, Abnormali... |
ORPHA:255 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Bilateral sensorineural hearing impairment, Decreased nerve conduction velocity, Tremor, Mildly e... |
ORPHA:397744 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hyperkinetic movements, Parkinsonism, Ataxia, Chorea, Tremor, Action tremor, Hypertonia, Dystonia |
OMIM:619738 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal pyramidal sign, Chorea, Exaggerated startle response, Progressive spastic quadriplegia, ... |
ORPHA:309246 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Limb hypertonia, Oculogyric crisis, Rigidity, Tremor, Bradykinesia, Cerebral palsy, Dystonia |
ORPHA:70594 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Cogwheel rigidity, Ankle clonus, Scissor gait, Bradykinesia, Resting tremor, Babinski... |
ORPHA:363654 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Abnormal pyramidal sign, Ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Dysmetria |
OMIM:614831 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Limb dystonia, Torticollis, Blepharospasm, Limb hypertonia, Limb tremor, Oculogyric crisis, Athet... |
OMIM:608643 |
| Atypical Rett Syndrome |
|
Spasticity, Limb myoclonus, EEG abnormality, Apraxia, Tremor, Gait ataxia, Pill-rolling tremor, H... |
ORPHA:3095 |
| Oculopharyngodistal Myopathy 4 |
|
Tremor, Postural tremor, Elevated circulating creatine kinase concentration |
OMIM:619790 |
| Gm2-Gangliosidosis, Ab Variant |
|
Abnormal pyramidal sign, Chorea, Exaggerated startle response, Paralysis, Spastic tetraparesis, H... |
OMIM:272750 |
| Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
| Hyperekplexia 2 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614619 |
| 4H Leukodystrophy |
|
Ataxia, Progressive gait ataxia, Abnormality of extrapyramidal motor function, Dysdiadochokinesis... |
ORPHA:289494 |
| Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614618 |
| Asparagine Synthetase Deficiency |
|
Spastic tetraplegia, Hypsarrhythmia, Limb hypertonia, Exaggerated startle response, EEG with burs... |
OMIM:615574 |
| Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Abnormal pyramidal sign, Ankle clonus, Tremor, Bradykinesia, Hypertonia, Dystonia |
OMIM:617435 |
| Aceruloplasminemia |
|
Decreased serum iron, Torticollis, Limb ataxia, Parkinsonism, Ataxia, Blepharospasm, Decreased ci... |
ORPHA:48818 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Tremor, EEG abnormality, Spasticity, Low-set ears |
OMIM:618718 |
| Riboflavin Transporter Deficiency |
|
Abnormal cranial nerve morphology, Progressive hearing impairment, Ataxia, Optic disc pallor, Abn... |
ORPHA:97229 |
| Developmental And Epileptic Encephalopathy 46 |
|
Tremor, Hypsarrhythmia, Limb hypertonia |
OMIM:617162 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Spasticity, Parkinsonism, Head titubation, Rigidity, Tremor, Bradykinesia, Gait ataxia, Myoclonus... |
OMIM:618877 |
| Megalocornea-Intellectual Disability Syndrome |
|
Protruding ear, Ataxia, EEG abnormality, Sensorineural hearing impairment, Hypercholesterolemia |
ORPHA:2479 |
| Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity |
OMIM:260540 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Limb ataxia, Hand tremor, Absent brainstem auditory responses, Decreased nerve conduction velocit... |
ORPHA:101085 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, EEG abnormality, Conductive hearing impairment, Hypercholesterolemia |
ORPHA:819 |
| Chylomicron Retention Disease |
|
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Acanthocytosis |
ORPHA:71 |
| Glutathionuria |
|
Tremor, Action tremor, Dysdiadochokinesis |
OMIM:231950 |
| Behr Syndrome |
|
Frequent falls, Progressive spasticity, Ataxia, Tremor, Babinski sign, Optic atrophy, Truncal ata... |
OMIM:210000 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Torsion dystonia, Blepharospasm |
OMIM:224500 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Progressive spasticity, Progressive cerebellar ataxia, Clumsiness, Spastic ataxia, Tremor, Hearin... |
ORPHA:137898 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Reticulocytosis, Ataxia, Hemolytic anemia, Decreased hemoglobin concentration, Tremor, Hyperbilir... |
ORPHA:713 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Limb hypertonia, Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Hypertoni... |
OMIM:618056 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Ataxia, Abnormal granulocyte morphology, Abnormal circulating creatine kinase concentration, Hype... |
ORPHA:98907 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Hyperargininemia, Hyperammonemia, Elevated plasma citrulline |
OMIM:603471 |
| Kufor-Rakeb Syndrome |
|
Spasticity, Parkinsonism, Torticollis, Ataxia, Parkinsonism with favorable response to dopaminerg... |
OMIM:606693 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Hypertonia, Sensorineural hearing impairment, Anemia |
ORPHA:1192 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dystonia, Dysmetria |
OMIM:607694 |
| Megalocornea-Mental Retardation Syndrome |
|
Poor coordination, Ataxia, Large fleshy ears, Cupped ear, Hypercholesterolemia |
OMIM:249310 |
| Spinocerebellar Ataxia 42 |
|
Abnormal pyramidal sign, Ataxia, Spastic ataxia, Tremor, Spastic gait, Babinski sign |
OMIM:616795 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Abnormal pyramidal sign, Parkinsonism, Oculomotor apraxia, Blepharospasm, Speech apraxia, Rigidit... |
ORPHA:99750 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Spasticity, Hypsarrhythmia, Ataxia, Limb hypertonia, Rigidity, Tremor, Abnormality of coordinatio... |
ORPHA:442835 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Hypertonia |
OMIM:300607 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Poor fine motor coordination, Hypercholesterolemia |
ORPHA:96184 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Decreased proportion of CD4-positive helper T cells, Orthostatic hypotensio... |
ORPHA:66628 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Spasticity, Oculomotor apraxia, EEG abnormality, Tremor, Gait ataxia, Optic atrophy, Dysmetria |
ORPHA:529665 |
| Stiff-Person Syndrome |
|
Frequent falls, Myoclonic spasms, Anemia, Rigidity, Exaggerated startle response, Opisthotonus |
OMIM:184850 |
| Hyperekplexia 1 |
|
Frequent falls, Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:149400 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Blepharospasm, Generalized dystonia, Writer's cramp, Tremor, Facial palsy, Oromandib... |
OMIM:128100 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia |
OMIM:604367 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia, Sensorineural hearing impairment |
OMIM:615381 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Spasticity, Oculomotor apraxia, Ataxia, Tremor, Gait ataxia, Poor motor coordination, Dysmetria |
ORPHA:1170 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Decreased proportion of CD4-positive helper T cells, Orthostatic hypotensio... |
ORPHA:179494 |
| Developmental And Epileptic Encephalopathy 4 |
|
Spastic tetraplegia, Hypsarrhythmia, Tremor, Spastic paraplegia, EEG with burst suppression, Chor... |
OMIM:612164 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
EEG with spike-wave complexes, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Incoor... |
ORPHA:36387 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia |
ORPHA:79085 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
| Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia |
ORPHA:528 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Increased C-peptide level |
OMIM:615238 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Griscelli Syndrome Type 1 |
|
Hyperlipidemia, Hypertonia, Ataxia |
ORPHA:79476 |
| Microtriplication 11Q24.1 |
|
Hyperkinetic movements, Attached earlobe, Posteriorly rotated ears, Speech apraxia, Hearing impai... |
ORPHA:289522 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Parkinsonism, Tremor, Resting tremor, Focal EEG discharges with secondary generalization, Lower l... |
ORPHA:3077 |
| Infantile Krabbe Disease |
|
Spasticity, Ankle clonus, Decreased nerve conduction velocity, Spastic diplegia, Hearing impairme... |
ORPHA:206436 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:615812 |
| Hyperlipoproteinemia, Type Id |
|
Decreased LDL cholesterol concentration, Hyperlipoproteinemia, Hypertriglyceridemia, Decreased HD... |
OMIM:615947 |
| Dentatorubral Pallidoluysian Atrophy |
|
Limb ataxia, Progressive cerebellar ataxia, Ataxia, Blepharospasm, Optic neuropathy, Dysdiadochok... |
ORPHA:101 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Tetanus |
|
Spasticity of pharyngeal muscles, Autonomic bladder dysfunction, Abnormal autonomic nervous syste... |
ORPHA:3299 |
| Pelizaeus-Merzbacher Disease |
|
Abnormal pyramidal sign, Ataxia, Generalized dystonia, Head titubation, Writer's cramp, Tremor, H... |
OMIM:312080 |
| Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Limb dystonia, Parkinsonism, Ataxia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Abnormality o... |
ORPHA:352649 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Hearing impairment |
OMIM:620114 |
| Ataxia With Vitamin E Deficiency |
|
Abnormal pyramidal sign, Ataxia, Hemiplegia/hemiparesis, Dysdiadochokinesis, Tremor, Hypertonia, ... |
ORPHA:96 |
| Cockayne Syndrome Type 1 |
|
Ataxia, Anemia, Absent brainstem auditory responses, Increased blood urea nitrogen, Hearing impai... |
ORPHA:90321 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Hypersegmentation of neutrophil nuclei, Macrocytic anemia, Dysmetria |
OMIM:615578 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Frequent falls, Parkinsonism, Facial diplegia, Decreased nerve conduction velocity, Tremor, Fasci... |
ORPHA:329478 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Abnormal autonomic nervous system physiology, Rigidity, Tremor, Bradykinesia, Dysto... |
OMIM:300894 |
| Developmental And Epileptic Encephalopathy 49 |
|
Spasticity, Spastic tetraplegia, EEG abnormality, Facial-lingual fasciculations, Exaggerated star... |
OMIM:617281 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Abnormal pyramidal sign, Limb ataxia, Oculomotor apraxia, Elevated circulating alpha-fetoprotein ... |
OMIM:606002 |
| Dysbetalipoproteinemia |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
ORPHA:412 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Vocal cord paralysis, Elevated cir... |
ORPHA:98863 |
| Spinocerebellar Ataxia Type 21 |
|
Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Rigidity, Tremor, Ga... |
ORPHA:98773 |
| Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Vocal cord paralysis, Elevated cir... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Vocal cord paralysis, Elevated cir... |
ORPHA:98853 |
| O'Sullivan-Mcleod Syndrome |
|
Tremor, Eosinophilia, Fasciculations |
ORPHA:99965 |
| Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia |
ORPHA:2457 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Gait ataxia, Intention tremor, Myoclonus, Babinski sign, Optic atrophy, Hypertoni... |
OMIM:616505 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia |
ORPHA:435651 |
| Sandhoff Disease, Infantile Form |
|
Spasticity, Exaggerated startle response, Hepatosplenomegaly, Myoclonus |
ORPHA:309155 |
| Spinocerebellar Ataxia 8 |
|
Spasticity, Abnormal pyramidal sign, Progressive cerebellar ataxia, Tremor, Incoordination |
OMIM:608768 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia, Elevated circulating creatine kinase concentration |
ORPHA:435660 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Spastic tetraplegia, Ataxia, Limb hypertonia, Athetosis, Tremor, Thrombocytopenia, Optic atrophy,... |
OMIM:617710 |
| Sneddon Syndrome |
|
Tremor, Facial palsy, Hemiplegia, Lymphopenia |
OMIM:182410 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Abnormal pyramidal sign, Parkinsonism, Ataxia, Generalized dystonia, Abnormality of e... |
OMIM:614298 |
| Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Splenomegaly |
OMIM:613027 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Spasticity, Parkinsonism, Abnormal vestibulo-ocular reflex, Abnormal cranial nerve morphology, At... |
ORPHA:247234 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Tetraparesis, Increased circulating inosine... |
OMIM:613179 |
| Griscelli Syndrome Type 2 |
|
