| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:607734 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Action tremor, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ... |
OMIM:180800 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
|
Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination |
OMIM:162600 |
| Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... |
OMIM:611228 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Ataxia, Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, On... |
OMIM:601098 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Decreased sensory nerve conduction velocity, Decreased nerve conduction v... |
ORPHA:206594 |
| Null Syndrome |
|
Ataxia, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Progressive spa... |
ORPHA:280234 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:608236 |
| Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Demyelinating sensory neuropathy, Progressive gait ataxia, Demyelinating motor neuropathy, Symmet... |
ORPHA:208981 |
| Optic Atrophy With Demyelinating Disease Of Cns |
|
Ataxia, Hemiparesis, Optic atrophy, CNS demyelination, Peripheral demyelination |
OMIM:165200 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Optic Atrophy 2 |
|
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Leukodystrophy, Abnormal autonomic nervous system physiology, Abnormal pyramidal sign, Peripheral... |
DECIPHER:59 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Segmental peripheral demyelination/remyelination, Froment sign, Decreased motor nerve conduction ... |
OMIM:162500 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Decreas... |
OMIM:605285 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:614895 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Peripheral axonal atrophy, Hypertonia, Decreased sensory nerve conduction velocity, Onion bulb fo... |
OMIM:609260 |
| Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity |
OMIM:612577 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:610021 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased sensory nerve conduction velocity, Axonal degeneration, Onion bulb formation, Decreased... |
OMIM:214400 |
| Methionine Adenosyltransferase I/Iii Deficiency |
|
Dystonia, Peripheral demyelination, CNS demyelination |
OMIM:250850 |
| Parkinsonism With Polyneuropathy |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... |
OMIM:619279 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Bradykinesia, Decreased nerve conduction velocity, Rigidity, Spasticity, Fasciculations |
OMIM:183050 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, ... |
OMIM:607706 |
| Chronic Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Decreased nerve conduction velocity, Segmental peripheral demyelination/r... |
ORPHA:2932 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... |
OMIM:118210 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block, Abnormal motor neuron morphology |
DECIPHER:31 |
| Monomelic Amyotrophy |
|
Tremor, Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction |
ORPHA:65684 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Arrhythmia, Decreased nerve conduction velocity, Peripheral demyelination |
ORPHA:99944 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... |
OMIM:606482 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Babinski sign, Optic atrophy, Spastic paraplegia, Spasticity, Abnormality of peripheral nerve con... |
ORPHA:431329 |
| Early-Onset X-Linked Optic Atrophy |
|
Decreased nerve conduction velocity, Intention tremor, Dysdiadochokinesis, Babinski sign, Optic a... |
ORPHA:98890 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Abnormal cranial nerve morpholog... |
OMIM:605253 |
| Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Spastic paraplegia, Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor n... |
OMIM:182815 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, Babinski sign, Gait ataxia, CNS demyelination, Spastic tetra... |
OMIM:249900 |
| Triose Phosphate-Isomerase Deficiency |
|
Hypertrophic cardiomyopathy, Decreased nerve conduction velocity, Diaphragmatic paralysis |
ORPHA:868 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Abnormal a... |
OMIM:601382 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Frequent falls, Onion bulb formation |
OMIM:618279 |
| Hereditary Motor And Sensory Neuropathy V |
|
Hypertonia, Decreased motor nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Pe... |
OMIM:600361 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Ca... |
OMIM:610100 |
| Neuronopathy, Distal Hereditary Motor, Type Vc |
|
Frequent falls, Babinski sign, Decreased compound muscle action potential amplitude, Chaddock reflex |
OMIM:619112 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Decreased nu... |
OMIM:118200 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology, Hypertrophic nerve c... |
DECIPHER:29 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Hand tremor, Babinski sign, Lower limb spasticity, Progressive spastic paraplegia, Spastic gait, ... |
ORPHA:401840 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Myelin tomacula, Decreased sensory nerve conduction velocity, Segmental peripheral demyelination/... |
OMIM:145900 |
| Cataract-Ataxia-Deafness Syndrome |
|
Hypertonia, Ataxia, Decreased nerve conduction velocity, Tremor |
ORPHA:1368 |
| Leukodystrophy, Hypomyelinating, 18 |
|
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Dysmetria, Babinski sig... |
OMIM:618404 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... |
OMIM:608673 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:118220 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Parkinsonism, Rigi... |
OMIM:617672 |
| Insensitivity To Pain With Hyperplastic Myelinopathy |
|
Abnormal peripheral myelination |
OMIM:147530 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis |
ORPHA:640 |
| Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
| Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Segmental peripheral demy... |
OMIM:606483 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... |
OMIM:601596 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Decre... |
OMIM:605588 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Leukodystrophy, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia, Abnorm... |
OMIM:614561 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased sensory nerve conductio... |
OMIM:608323 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, EEG with irregular generalize... |
OMIM:601068 |
| Charcot-Marie-Tooth Disease, Type 4H |
|
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... |
OMIM:609311 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gliosis, Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Decreased number ... |
OMIM:604484 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Babinski sign, Peripheral axonal neuropathy, Tremor, Spasticity |
OMIM:611105 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Gliosis, EEG abnormality, Myoclonus, Babinski sign, Abnormal upper motor neuron morphology, Spast... |
OMIM:221770 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Onion bulb formation, Axonal regeneration |
OMIM:615185 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Ataxia, Demyelinating motor neuropathy, Spastic paraparesis, Intention tremor, Leukodystrophy, De... |
OMIM:608804 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Decreased nerve conduction velocity |
ORPHA:101078 |
| Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Dysmetria, Intention tremor, Babinski sign, Abnormal pyramidal si... |
ORPHA:397946 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Abnormal peripheral action potential amplitude, EEG abnormality, Cerebral atrophy, Decreased nerv... |
ORPHA:457205 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Ataxia, Dystonia, Peripheral demyelination, Axonal loss |
OMIM:616684 |
| Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Hypertonia, Clumsiness, Tetraparesis, Decreased number of peripheral myelinated nerve fibers, Slu... |
ORPHA:2386 |
| Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... |
ORPHA:90103 |
| Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Gliosis, Decreased nerve conduction velocity, Orthostatic hypotension, Degeneration of anterior h... |
OMIM:118301 |
| Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure |
ORPHA:871 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration |
OMIM:607791 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Peripheral de... |
OMIM:608340 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Onion bulb formation, Decreased nerve conduction velocity, Brain atrophy |
OMIM:615284 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Motor conduction block, Demyelinating peripheral neuropathy, Decreased motor nerve conduction vel... |
ORPHA:99953 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation |
OMIM:616039 |
| Spinocerebellar Ataxia Type 43 |
|
Decreased number of large peripheral myelinated nerve fibers, Progressive cerebellar ataxia, Limb... |
ORPHA:497764 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers |
|
Cerebral atrophy, Decreased motor nerve conduction velocity, Cerebral hypomyelination, Cerebellar... |
OMIM:601170 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... |
OMIM:601455 |
| Neuronopathy, Distal Hereditary Motor, Type Vb |
|
Decreased motor nerve conduction velocity |
OMIM:614751 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Abnormal nerve conduction velocity |
ORPHA:101075 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Decreased nerve conduction velocity, Hand tremor |
ORPHA:352675 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hypoglycemic seizures |
ORPHA:293964 |
| Spastic Paraplegia 55, Autosomal Recessive |
|
Onion bulb formation, Babinski sign, Peripheral axonal neuropathy, Optic atrophy, Spastic paraple... |
OMIM:615035 |
| Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Decreased motor nerve conduction velocity, Fasciculations |
OMIM:615575 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Dysmetria, Axonal degeneration, Hand tremor, Onion bulb formation, Decreased motor n... |
OMIM:302800 |
| Krabbe Disease |
|
Hypertonia, EEG abnormality, Decreased nerve conduction velocity, Decerebrate rigidity, Optic atr... |
OMIM:245200 |
| Motor Neuropathy, Peripheral, With Dysautonomia |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Decreased nerve conduction... |
OMIM:252320 |
| Charcot-Marie-Tooth Disease Type 1A |
|
Decreased motor nerve conduction velocity, Demyelinating peripheral neuropathy, Decreased sensory... |
ORPHA:101081 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Facial diplegia, Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, De... |
OMIM:618184 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal autonomic nervous system physiology, Decreased motor nerve conduction velocity, Babinski... |
ORPHA:139578 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Peripheral axonal atrophy, Decreased number of peripheral myelinated nerve fibers, Decreased moto... |
OMIM:600882 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Abnormal motor evoked potentials, Decreased nerve conduction velocity, Demyelinating motor neurop... |
ORPHA:99939 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity |
OMIM:605589 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:615376 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor co... |
ORPHA:99948 |
| Roussy-Lévy Syndrome |
|
Clumsiness, Limb ataxia, Decreased motor nerve conduction velocity, Babinski sign, Frequent falls... |
ORPHA:3115 |
| Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
| Wild Type Abeta2M Amyloidosis |
|
Decreased nerve conduction velocity, Tetraplegia, Arrhythmia, Tetraparesis, Decreased amplitude o... |
ORPHA:85446 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Gait ataxia, Postural tremor, Abnormal ne... |
OMIM:619862 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Ataxia, Peripheral hypomyelination, Axonal degeneration, Decreased motor nerve conduction velocit... |
OMIM:604168 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased number of perip... |
OMIM:604563 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration |
OMIM:607677 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Truncal titubation, Intention tremor, Leukodystrophy, Decreased motor nerve conduction velocity, ... |
OMIM:610532 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Demyelinating peripheral neuropathy, Spastic paraparesis, Decreased motor nerve conduction veloci... |
ORPHA:101077 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Leukodystrophy, Choreoathetosis, Dystonia, Decreased nerve conduction velocity |
OMIM:614932 |
| Neuronal Intranuclear Inclusion Disease |
|
Ataxia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, R... |
OMIM:603472 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Hypertonia, Ataxia, Decreased nerve conduction velocity, Dysmetria, Intention tremor, Myoclonus, ... |
OMIM:618356 |
| Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy |
|
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity |
OMIM:618912 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration |
OMIM:607731 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Gliosis, Pseudobulbar paralysis, Autonomic erectile dysfunction, Orthostatic hypotension ... |
OMIM:169500 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Jerk-locked premyoclonus spikes, Tremor, Myoclonus, Enhancement of the C-reflex |
OMIM:615127 |
| Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Onion bulb formation, Acute demyelinating polyneuropathy |
ORPHA:98916 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
| Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Chronic axonal neuropathy, Decreased number of small peripheral myelinated nerve fibers, Peripher... |
ORPHA:101097 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Peripheral dysmyelination |
ORPHA:101082 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decrease... |
OMIM:162400 |
| Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor |
OMIM:618866 |
| Tremor, Hereditary Essential, 5 |
|
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor |
OMIM:616736 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Babinski sign, Sensory axonal neuropathy, Dysmetria |
OMIM:612437 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Optic atrophy |
OMIM:311070 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function, Tremor |
OMIM:165300 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Tremor, Dystonia, Neurodegeneration, Cerebellar atrophy |
OMIM:615889 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, Myoclonus, Giant somatosensor... |
OMIM:613608 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Peripheral axonal neuropathy, Frequent falls, Tremor, Gait atax... |
OMIM:607317 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Fasciculations |
OMIM:606595 |
| Autosomal Recessive Spastic Paraplegia Type 21 |
|
Abnormal pyramidal sign, Spasticity, Apraxia, Abnormality of peripheral nerve conduction, Abnorma... |
ORPHA:101001 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Ataxia, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Dysmetria, Inte... |
OMIM:612674 |
| Spastic Paraplegia 17, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Babinski sign, Spastic paraplegia, Spastic gait, Postu... |
OMIM:270685 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Leukodystrophy, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Cerebral... |
OMIM:619851 |
| Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
| Autosomal Dominant Spastic Paraplegia Type 17 |
|
Spastic gait, Abnormal motor nerve conduction velocity, Postural tremor, Babinski sign |
ORPHA:100998 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Ataxia, Optic atrophy, Tremor, Abnormal nerve conduction velocity |
ORPHA:99014 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Tongue fasciculations, Fasciculations, Abnormal sensory nerve conduction velocity |
ORPHA:276435 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607831 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity |
OMIM:607678 |
| Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased numb... |
ORPHA:98856 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Axonal degeneration, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, F... |
OMIM:614436 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
EEG abnormality, Cerebral atrophy, Neurodegeneration, Optic atrophy, Cerebellar atrophy |
OMIM:610951 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia |
OMIM:615158 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:613287 |
| Dystonia 27 |
|
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor |
OMIM:616411 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity |
OMIM:302801 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Hypertonia, Ataxia, Clumsiness, Decreased motor nerve conduction velocity, Babinski sign, Abnorma... |
OMIM:616688 |
| Macular Degeneration, Age-Related, 3 |
|
Peripheral axonal neuropathy, Decreased nerve conduction velocity |
OMIM:608895 |
| Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Tetraplegia, Babinski sign, Chorea, Optic atrophy, S... |
OMIM:250100 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Hemiplegia, EEG with persistent abnormal rhythmic activity, Ataxia, Upper motor neuron dysfunctio... |
ORPHA:206443 |
| Adult Krabbe Disease |
|
Hemiplegia, Ataxia, Clumsiness, EEG abnormality, Hoffmann sign, Babinski sign, Prolonged brainste... |
ORPHA:206448 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Abnormal myelination, Hand tremor, Cerebral cortical atrophy |
ORPHA:401830 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive |
|
Optic atrophy, Gait ataxia, Peripheral demyelination |
OMIM:258650 |
| Ataxia-Deafness-Intellectual Disability Syndrome |
|
Ataxia, Decreased nerve conduction velocity |
ORPHA:1188 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 |
|
Decreased motor nerve conduction velocity, Babinski sign |
OMIM:605726 |
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased number of large peripheral myelinated nerve fibers, Ataxia, Decreased sensory nerve con... |
OMIM:270550 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ataxia, Gliosis, Tremor, CNS demyelination, Peripheral demyelination |
OMIM:220111 |
| Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
| Developmental And Epileptic Encephalopathy 17 |
|
Delayed myelination, Cerebral atrophy, Athetosis, Hypsarrhythmia, Dystonia |
OMIM:615473 |
| Dystonia 23 |
|
Torticollis, Axial dystonia, Myoclonus, Arrhythmia, Head tremor, Writer's cramp, Limb dystonia |
OMIM:614860 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... |
ORPHA:79299 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Paraparesis, Decreased nerve conduction velocity |
OMIM:302802 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
| Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Limb tremor, Abnormal myelination, Cerebral cortical atrophy |
ORPHA:401820 |
| Spinocerebellar Ataxia 10 |
|
Progressive cerebellar ataxia, Decreased nerve conduction velocity, Limb ataxia, Dysmetria, Brady... |
OMIM:603516 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Axonal degeneration/regeneration, Peripheral demyelination |
OMIM:607736 |
| Atrial Standstill |
|
Hemiplegia, Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I... |
ORPHA:1344 |
| Charcot-Marie-Tooth Disease Type 4D |
|
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Demy... |
ORPHA:99950 |
| Ataxia-Pancytopenia Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Dysmetria, Ankle clonus, Babinski sign |
OMIM:159550 |
| Neuromyelitis Optica Spectrum Disorder |
|
Paraplegia, Peripheral demyelination |
ORPHA:71211 |
| Atrial Fibrillation, Familial, 18 |
|
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... |
OMIM:617280 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Myoclonus, Frequent falls, Tremor, Cardiomyopathy, Dystonia |
OMIM:619647 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Prolonged somatosensory evoked potentials, Myoclonus, Writer's cramp, Tremor, Paroxysmal dystonia |
OMIM:608105 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Peripher... |
OMIM:602433 |
| Progressive Familial Heart Block, Type Ia |
|
Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, R... |
OMIM:113900 |
| Cardiomyopathy, Dilated, 1U |
|
Left bundle branch block, Increased left ventricular end-diastolic volume, Syncope, Dilated cardi... |
OMIM:613694 |
| Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Sensory axonal neuropathy, Tremor, Progressive gait... |
OMIM:607458 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Arrhythmia, Decreased nerve conduction velocity |
ORPHA:2928 |
| Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... |
OMIM:611819 |
| Spinocerebellar Ataxia Type 25 |
|
Decreased number of large peripheral myelinated nerve fibers, Progressive cerebellar ataxia, Babi... |
ORPHA:101111 |
| Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... |
ORPHA:168796 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... |
ORPHA:300751 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
| Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... |
OMIM:616040 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Rigidity, Parkinsonism, Tremor, Substantia nigra gliosis, Dystonia |
OMIM:600116 |
| Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Vestibular schwannoma, Decreased compound muscle action potential amplitude |
OMIM:613641 |
| Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Babinski sign, Peripheral axonal neuropathy, Spastic p... |
OMIM:256840 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Facial diplegia, Decreased sensory nerve conduction velocity, Onion bulb formation, Decreased mot... |
OMIM:218000 |
| Abetalipoproteinemia |
|
Ataxia, Peripheral demyelination, CNS demyelination |
OMIM:200100 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
| Spinocerebellar Ataxia Type 1 |
|
Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Dysdiadochokinesis, Fasciculations, Chore... |
ORPHA:98755 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Poor fine motor coordination, Bradycardia |
OMIM:617182 |
| Atrial Standstill 1 |
|
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Atrial cardiomyopath... |
OMIM:108770 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Opti... |
ORPHA:216873 |
| Brugada Syndrome 1 |
|
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... |
OMIM:601144 |
| Galloway-Mowat Syndrome 5 |
|
Ataxia, Spasticity, Peripheral demyelination |
OMIM:617731 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
| Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
| Atrophoderma Vermiculata |
|
Heart block, Neurofibromas |
ORPHA:79100 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebral atrophy, Abnormal autonomic nervous system physiology, Neurodegeneration, Tremor, Cerebe... |
OMIM:300894 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:607080 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination, Hand tremor |
ORPHA:401835 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Optic atrophy, Tremor, Spa... |
OMIM:270500 |
| Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia |
ORPHA:314802 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia, Peripheral axonal neuropathy |
OMIM:619099 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... |
OMIM:600858 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity, Axonal degeneration |
OMIM:618138 |
| Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Orthostatic hypotension, Bradykinesia, Resting tremor |
OMIM:616710 |
| Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... |
OMIM:619464 |
| Multifocal Motor Neuropathy |
|
Fasciculations, Motor conduction block |
ORPHA:641 |
| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Heart block, Abnormal left ventricular function, Cardiomyopathy |
ORPHA:98912 |
| Cardiomyopathy, Dilated, 1V |
|
Left bundle branch block, Increased left ventricular end-diastolic volume, Syncope, Dilated cardi... |
OMIM:613697 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Leukodystrophy, Rigidity, Cerebral hypomyelination, Optic atrophy, Tremor, Choreoathetosi... |
OMIM:612438 |
| Parkinsonism With Spasticity, X-Linked |
|
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity |
OMIM:300911 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... |
ORPHA:99105 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Sudden cardiac death, Ventricular arrhythmia, Increased left ventricula... |
OMIM:601493 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus |
OMIM:616921 |
| Spinocerebellar Ataxia 23 |
|
Limb ataxia, Dysmetria, Babinski sign, Tremor, Gait ataxia, CNS demyelination |
OMIM:610245 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the seventh cranial nerve, Tremor, Abnormal peripheral action potential amplitude,... |
ORPHA:90117 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Clumsiness, Decreased nerve conduction velocity, Intention tremor, Leukodystrophy, Decerebrate ri... |
ORPHA:309263 |
| Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
| Friedreich Ataxia |
|
Ataxia, Decreased sensory nerve conduction velocity, Limb ataxia, Babinski sign, Optic atrophy, D... |
OMIM:229300 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Torticollis, Cerebral dysmyelination, Dysmyelinating leukodystrophy, Ataxia, Demyelinating periph... |
OMIM:609136 |
| Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia |
OMIM:615945 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Stereotypical hand wringing, Hypsarrhythmia |
OMIM:619561 |
| Brugada Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... |
OMIM:611777 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Hypertension, Peripheral demyelination |
OMIM:616733 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Decreased number of large peripheral myelinated nerve fibers... |
ORPHA:101085 |
| Combined Oxidative Phosphorylation Defect Type 13 |
|
Delayed myelination, Decreased nerve conduction velocity, Choreoathetosis, Limb dystonia, Lower l... |
ORPHA:319514 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Tremor, Hemiballismus, Chorea |
ORPHA:494526 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Ataxia, Decreased sensory nerve conduction velocity, Peripheral demyelination |
OMIM:609033 |
| Cardiomyopathy, Dilated, 1Bb |
|
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... |
OMIM:612877 |
| Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block |
OMIM:192605 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Neuronal loss in central nervous system, Cerebral atrophy, Decreased nerve conduction velocity, N... |
OMIM:256600 |
| Aicardi-Goutieres Syndrome 6 |
|
Leukodystrophy, Rigidity, Dystonia, Tremor |
OMIM:615010 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ataxia, Abnormal pyramidal sign, Optic atrophy, Tremor, Incoordin... |
OMIM:614947 |
| Distal Hereditary Motor Neuropathy Type 5 |
|
Abnormal motor nerve conduction velocity |
ORPHA:139536 |
| Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis, Abnormality of peripheral nerve conduction, Spastic paraplegia |
ORPHA:101005 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Frequent falls, Poor fine motor coordination, Peripheral axonal neuropathy, Decreased nerve condu... |
ORPHA:435387 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... |
OMIM:608567 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... |
OMIM:140400 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Gliosis, Limb ataxia, Dysmetria, Tremor, Gait ataxia, Spasticity, Incoordination |
OMIM:213200 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular dissociation, Tachycardia, Right bundle branch block, Atrial fibrillation, Atrio... |
OMIM:614954 |
| Metachromatic Leukodystrophy, Adult Form |
|
Clumsiness, Decreased nerve conduction velocity, Orthostatic hypotension due to autonomic dysfunc... |
ORPHA:309271 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Clumsiness, Decreased nerve conduction velocity, Leukodystrophy, Decerebrate rigidity, Babinski s... |
ORPHA:309256 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... |
OMIM:612098 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor |
OMIM:611808 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Degeneration of anterior horn cells, Decreased nerve conduction velocity, Peripheral axonal degen... |
OMIM:604320 |
| Cednik Syndrome |
|
Optic atrophy, Abnormality of peripheral nerve conduction, Ataxia, Congestive heart failure |
ORPHA:66631 |
| Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Optic atrophy, Tremor, Progressive spasticity |
OMIM:210000 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia |
OMIM:168100 |
| Friedreich Ataxia |
|
Poor fine motor coordination, Limb ataxia, Dysmetria, Intention tremor, Decreased motor nerve con... |
ORPHA:95 |
| Tangier Disease |
|
Facial diplegia, Myocardial infarction, Peripheral axonal neuropathy, Peripheral demyelination |
OMIM:205400 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Oromandibular dystonia, Dystonia, Motor axonal neuropathy, Neurodegeneration |
OMIM:615643 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:609016 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity, Decr... |
OMIM:201300 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Sudden cardiac death, Palpitations, Syncope, Ventricular tachycardia, A... |
OMIM:613838 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Facial diplegia, Decreased nerve conduction velocity, Parkinsonism, Frequent falls, Tremor, Fasci... |
ORPHA:329478 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Tremor |
OMIM:264070 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Motor axonal neuropathy, Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Abnormalit... |
ORPHA:48431 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... |
ORPHA:79262 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
| Spinocerebellar Ataxia 1 |
|
Progressive cerebellar ataxia, Decreased sensory nerve conduction velocity, Limb ataxia, Dysmetri... |
OMIM:164400 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Leg dystonia, EEG abnormality, Decreased nerve conduction velocity, Ankle clonus, Limb hypertonia... |
ORPHA:565624 |
| Diaminopentanuria |
|
Neurodegeneration |
OMIM:222350 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... |
ORPHA:45452 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Dysmyelinating leukodystrophy, Neurodegeneration, Atrophy/Degeneration affecting the brainstem, O... |
OMIM:612319 |
| Dystonia 11, Myoclonic |
|
Torticollis, Tremor, Myoclonus, Writer's cramp |
OMIM:159900 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Ataxia, Ankle clonus, Knee clonus, Babinski sign, Spastic paraplegia, Decreased number of periphe... |
OMIM:604360 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Tremor, Peripheral axonal neuropathy |
OMIM:616668 |
| Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... |
OMIM:604145 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Tremor, Ataxia, Hemiparesis |
OMIM:141500 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Brain atrophy, Abnormal myelination, Cerebral atrophy |
ORPHA:85179 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
EEG with photoparoxysmal response, Ataxia, Blepharospasm, Jerk-locked premyoclonus spikes, EEG wi... |
OMIM:607876 |
| Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
| Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Spastic paraplegia, T... |
ORPHA:251282 |
| Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Leukodystrophy, Myoclonus, Tremor, Spasticity, CNS hypomyelination |
OMIM:616494 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia |
ORPHA:423296 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... |
OMIM:608758 |
| Spinocerebellar Ataxia 7 |
|
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Optic atrophy, Tremor, Spasticit... |
OMIM:164500 |
| Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... |
OMIM:619897 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Decreased number of large peripheral myelinated nerve fibers, Ataxia, Limb ataxia, Axonal degener... |
OMIM:208920 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Dystonia, Cardiomyopathy |
OMIM:619651 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Decreased nerve conduction velocity, Spastic paraparesis, Poor coordination, Abnormal pyramidal s... |
OMIM:238970 |
| Sialidosis Type 1 |
|
Ataxia, EEG abnormality, Decreased nerve conduction velocity, Myoclonus, Tremor, Slurred speech |
ORPHA:812 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:606070 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Abnormal motor nerve conduction velocity, Facial palsy, Diaphragmatic paralysis, Tongue fascicula... |
OMIM:614399 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function |
OMIM:615362 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Optic atrophy, Abnormal myelination, Cerebellar atrophy |
OMIM:618324 |
| Acromicric Dysplasia |
|
Decreased nerve conduction velocity |
ORPHA:969 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... |
ORPHA:98762 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Dysmetria, Peripheral axonal neuropathy, Tremor, Gait ataxia |
OMIM:618387 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity |
OMIM:118300 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... |
OMIM:613243 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Hypertonia, Gliosis, Opisthotonus, Myoclonic spasms, Spastic tetraplegia, Peripheral demyelinatio... |
OMIM:252160 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Degeneration of anterior horn cells, Facial palsy, Myoclonus, Fasciculations, Frequent falls, Tre... |
OMIM:159950 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia |
OMIM:615924 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Permanent atrial fibrillation, Left bundle branch block, Mitral r... |
OMIM:617047 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Decreased nerve conduction velocity |
ORPHA:397744 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Optic atrophy, Tremor, Spasticity, Delayed CNS myelination |
OMIM:300983 |
| Caribbean Parkinsonism |
|
Action tremor, Bradykinesia, Abnormal autonomic nervous system physiology, Orthostatic hypotensio... |
ORPHA:97355 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
| Glutaric Acidemia I |
|
Delayed myelination, Opisthotonus, Spastic diplegia, Rigidity, Choreoathetosis, Dystonia, Symmetr... |
OMIM:231670 |
| Multiple System Atrophy |
|
Axial dystonia, Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Raynaud phenomenon, ... |
ORPHA:102 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
EEG with spike-wave complexes, EEG with polyspike wave complexes, Myoclonus, Truncal ataxia, Chor... |
OMIM:618587 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Chronic axonal neuropathy, Limb ataxia, Decreased motor nerve conduction velocity, Abnormal pyram... |
OMIM:606002 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
| Familial Dilated Cardiomyopathy |
|
Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmonary artery pressure,... |
ORPHA:217607 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... |
OMIM:607688 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Bradykinesia, Ankle clonus, Babinski sign, Parkinsonism, Tremor, Spastici... |
ORPHA:521406 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Myoclonus, Craniofacial dys... |
OMIM:617284 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Ventricular tachycardia, Right bundle branch block, H... |
OMIM:613251 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity |
OMIM:615768 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Decreased distal sensory nerve action potential, Peripheral axonal neuropathy |
OMIM:618400 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Dysmetria, Ankle clonus, Dysdiadochokinesis, Babinski sign, Optic atrophy, Spastic paraplegia, Fr... |
ORPHA:171629 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Facial p... |
OMIM:601419 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Spastic paraplegia, Decreased motor nerve conduction velocity, Axial dystonia, Decreased sensory ... |
OMIM:619026 |
| Hurler-Scheie Syndrome |
|
Abnormal pyramidal sign, Cardiomyopathy, Abnormal nerve conduction velocity |
ORPHA:93476 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased motor nerve conduction velocity, Facial palsy |
OMIM:607684 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... |
OMIM:618920 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Sudden cardiac death, Palpit... |
OMIM:604169 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Optic atrophy, Decreased motor nerve conduction velocity, Abnormal pyramidal sign, Spastic tetrap... |
OMIM:615419 |
| X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Optic neuropathy, Spastic paraparesis, Hand tremor, Clasp-knife sign, Decreased motor nerve condu... |
ORPHA:101076 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Atrial arrhythmia, Sudden cardiac death, Palpitations, Absent P wave, Atrioventricular block, Fir... |
OMIM:310300 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Bradykinesia, Spastic paraparesis, Abnormal autonomic nervous system physiology, Rigidity, Parkin... |
ORPHA:329284 |
| Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Cerebral atrophy, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction v... |
OMIM:616192 |
| Lethal Ataxia With Deafness And Optic Atrophy |
|
Ataxia, Severe demyelination of the white matter, EEG with focal epileptiform discharges, Decreas... |
ORPHA:1187 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Dilated cardiomyopathy, Dystonia, Congestive ... |
ORPHA:324588 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617173 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Dilated cardiomyopathy, Choreoathetosis, Invo... |
OMIM:606703 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, EEG abnormality, Bradykinesia, Rigidity, Tremor, Dystonia |
OMIM:617836 |
| Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Parkinsonism, Oromotor apr... |
ORPHA:454887 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Peripheral axonal neuropathy, Optic atrophy, Optic disc pallor, Dec... |
ORPHA:320406 |
| Autosomal Recessive Spastic Paraplegia Type 55 |
|
Optic neuropathy, Decreased sensory nerve conduction velocity, Spastic paraparesis, Poor fine mot... |
ORPHA:320375 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... |
OMIM:213600 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Blepharospasm, Tremor, Involuntary movements, Limb dystonia, Torsion dystonia, Gener... |
ORPHA:99657 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ataxia, Decreased nerve conduction velocity |
ORPHA:1933 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... |
OMIM:613135 |
| Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Opisthotonus, Ankle clonus, Decerebrate rigidity, Spastic di... |
ORPHA:206436 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
| Infantile Neuroaxonal Dystrophy |
|
Ataxia, Cerebellar gliosis, Abnormal autonomic nervous system physiology, Abnormal pyramidal sign... |
ORPHA:35069 |
| Long Qt Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613688 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Onion bulb formation, Axonal loss |
OMIM:614455 |
| Pelizaeus-Merzbacher Disease |
|
Cerebral dysmyelination, Ataxia, CNS hypomyelination, Intention tremor, Sudanophilic leukodystrop... |
OMIM:312080 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Decreased compound muscle action potential amplitude |
OMIM:619519 |
| Mononeuropathy Of The Median Nerve, Mild |
|
Peripheral axonal neuropathy |
OMIM:613353 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebral atrophy, Axonal degeneration, Neurodegeneration, Tremor, Cerebellar atrophy, Dystonia |
OMIM:615157 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Vocal cord paralysis, Peripheral axonal n... |
OMIM:615490 |
| Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria, Tremor, Cogwheel rigidity |
ORPHA:363710 |
| Brugada Syndrome 5 |
|
Bundle branch block, ST segment elevation, Ventricular fibrillation |
OMIM:612838 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Peripheral axonal neuropath... |
ORPHA:401768 |
| Sick Sinus Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... |
OMIM:163800 |
| Pelizaeus-Merzbacher Disease, Classic Form |
|
