| Roussy-Levy Hereditary Areflexic Dystasia |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Acti... |
OMIM:180800 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Segmental peripheral demyelinati... |
OMIM:607734 |
| Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
|
Peripheral demyelination, Polyneuritis, Decreased nerve conduction velocity |
OMIM:162600 |
| Charcot-Marie-Tooth Disease, Type 4J |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal loss, Frequent falls, Dec... |
OMIM:611228 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Axonal loss, Motor conduction block, Abnormality of so... |
ORPHA:206594 |
| Null Syndrome |
|
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, Ataxia, CNS hypomye... |
ORPHA:280234 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity |
OMIM:608236 |
| Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Symmetrical progressive peripheral demyelination, Demyelinating sensory neuropathy, Demyelinating... |
ORPHA:208981 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis, Segmental peripheral demyelinati... |
OMIM:162500 |
| Optic Atrophy With Demyelinating Disease Of Cns |
|
Optic atrophy, CNS demyelination, Peripheral demyelination, Hemiparesis, Ataxia |
OMIM:165200 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Onion bulb formation, Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Segm... |
OMIM:601098 |
| Optic Atrophy 2 |
|
Tremor, Optic atrophy, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Paralysis, Decreased number of large peripheral myelin... |
OMIM:605285 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy, Abnormal autonomic nervous sys... |
DECIPHER:59 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... |
OMIM:614895 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Optic atrophy, Babinski sign, Ax... |
OMIM:609260 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia |
OMIM:610021 |
| Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Rigidity, Bradykinesia, Decreased amplitude of sensory... |
OMIM:619279 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Rigidity, Bradykinesia, Decreased nerve conduction velocity, Fasciculations, Ataxia, Spasticity |
OMIM:183050 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
| Monomelic Amyotrophy |
|
Tremor, Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells |
ORPHA:65684 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block, Abnormal motor neuron morphology |
DECIPHER:31 |
| Chronic Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Peripheral demyelination, Decreased nerve conduction velocity, Abnormal n... |
ORPHA:2932 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity, Peripheral demyelination, Arrhythmia |
ORPHA:99944 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Optic atrophy, Babinski sign, Abnormal myelination, Spastic paraplegia, Spasticity, Abnormality o... |
ORPHA:431329 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Segmental peripheral d... |
OMIM:606482 |
| Early-Onset X-Linked Optic Atrophy |
|
Babinski sign, Optic atrophy, Optic disc pallor, Choreoathetosis, Decreased nerve conduction velo... |
ORPHA:98890 |
| Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy, Spastic p... |
OMIM:182815 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology, Decreased mo... |
OMIM:605253 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Babinski sign, CNS demyelination, Peripheral demyelination, Decreased nerve conduction velocity, ... |
OMIM:249900 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... |
OMIM:118210 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Onion bulb formation, Segmental peripheral demyelination, Segmental peripheral demyelination/remy... |
OMIM:606483 |
| Triose Phosphate-Isomerase Deficiency |
|
Hypertrophic cardiomyopathy, Diaphragmatic paralysis, Decreased nerve conduction velocity |
ORPHA:868 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Babinski sign, Abnormal myelination, Hand tremor, Spastic gait, Lower limb spasticity, Progressiv... |
ORPHA:401840 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Peri... |
OMIM:118200 |
| Hereditary Motor And Sensory Neuropathy V |
|
Decreased motor nerve conduction velocity, Babinski sign, Peripheral axonal neuropathy, Frequent ... |
OMIM:600361 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Abnormal motor neuron morp... |
DECIPHER:29 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Ca... |
OMIM:610100 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Ataxia, Hypertonia, Decreased nerve conduction velocity |
ORPHA:1368 |
| Neuronopathy, Distal Hereditary Motor, Type Vc |
|
Chaddock reflex, Babinski sign, Decreased compound muscle action potential amplitude, Frequent falls |
OMIM:619112 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Onion bulb formation, Frequent falls |
OMIM:618279 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral demyelination, Peripheral axonal neuropathy, Paraparesis |
ORPHA:231445 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Prolonged brainstem au... |
OMIM:601596 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Myel... |
OMIM:118220 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... |
OMIM:607706 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decre... |
OMIM:608673 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Optic atrophy, Progressive spasticity, Babinski sign, ... |
OMIM:608804 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis |
ORPHA:640 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... |
OMIM:615376 |
| Insensitivity To Pain With Hyperplastic Myelinopathy |
|
Abnormal peripheral myelination |
OMIM:147530 |
| Episodic Ataxia, Type 1 |
|
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia |
OMIM:160120 |
| Leukodystrophy, Hypomyelinating, 18 |
|
Progressive spasticity, Babinski sign, Dysmetria, Abnormal motor nerve conduction velocity, Decre... |
OMIM:618404 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Irregular myelin loops, Abnormal auditory evoked poten... |
OMIM:601382 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2O |
|
Decreased motor nerve conduction velocity, Frequent falls |
OMIM:614228 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... |
OMIM:605588 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... |
OMIM:214400 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Babinski sign, Axonal loss, Peripheral demyelination, Myoclonus, Gliosis, EEG abnormality, Apraxi... |
OMIM:221770 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Parkinsonism, Axonal loss, Rigidity, Chorea, Peripheral demyelination, Abnormality of extrapyrami... |
OMIM:617672 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Abnormal circulating insulin level, Nonketotic h... |
ORPHA:293964 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Peripheral axonal neuropathy, Tremor, Ataxia, Spasticity |
OMIM:611105 |
| Charcot-Marie-Tooth Disease, Type 4H |
|
Onion bulb formation, Peripheral hypomyelination, Decreased number of peripheral myelinated nerve... |
OMIM:609311 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Gliosis, Axonal degeneration, Fasciculations, Tetraplegia, Decreased number of perip... |
OMIM:604484 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Onion bulb formation, Axonal regeneration |
OMIM:615185 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, EEG with photoparoxysmal ... |
OMIM:601068 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Decreased nerve conduction velocity |
ORPHA:101078 |
| Methionine Adenosyltransferase I/Iii Deficiency |
|
Peripheral demyelination, CNS demyelination |
OMIM:250850 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Axonal loss, Orthostatic hypotension, Atrioventricular block, Gliosis, Decreased nerve conduction... |
OMIM:118301 |
| Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Clumsiness, EEG with generalized slow activity, Hypertonia, Slurred speech, Tetraparesis, Decreas... |
ORPHA:2386 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... |
ORPHA:90103 |
| Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
| Autosomal Spastic Paraplegia Type 58 |
|
Babinski sign, Clonus, Frequent falls, Torticollis, Dysmetria, Peripheral demyelination, Chorea, ... |
ORPHA:397946 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Onion bulb formation, Peripheral demyelination, Decreased number of large peripheral myelinated n... |
OMIM:608340 |
| Familial Progressive Cardiac Conduction Defect |
|
Syncope, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia |
ORPHA:871 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration |
OMIM:607791 |
| Spinocerebellar Ataxia Type 43 |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Cogwh... |
ORPHA:497764 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Onion bulb formation, Brain atrophy, Decreased nerve conduction velocity |
OMIM:615284 |
| Progressive Familial Heart Block, Type Ia |
|
Syncope, Complete heart block with broad QRS complexes, Left anterior fascicular block, Right bun... |
OMIM:113900 |
| Krabbe Disease |
|
Progressive spasticity, Optic atrophy, CNS demyelination, Peripheral demyelination, Decreased ner... |
OMIM:245200 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Decr... |
OMIM:145900 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Motor conduction block, ... |
ORPHA:99953 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation |
OMIM:616039 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Abnormality of extrapyramidal motor function, Leukodystrophy, Tremor, Ataxia, Spasticity, Hemiple... |
OMIM:614561 |
| Neuronopathy, Distal Hereditary Motor, Type Vb |
|
Decreased motor nerve conduction velocity |
OMIM:614751 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Abnormal nerve conduction velocity, Ataxia |
ORPHA:101075 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Onion bulb formation, Axonal loss, Abnormal auditory evoked potentials, Decreased nerve conductio... |
OMIM:601455 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Babinski sign, Clonus, Sensory axonal neuropathy, Spas... |
ORPHA:139578 |
| X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Hand tremor, Decreased nerve conduction velocity |
ORPHA:352675 |
| Spastic Paraplegia 55, Autosomal Recessive |
|
Onion bulb formation, Optic atrophy, Clonus, Peripheral axonal neuropathy, Babinski sign, Spastic... |
OMIM:615035 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Decreased motor nerve conduction velocity, Fasciculations |
OMIM:615575 |
| Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Cerebral hypomyelination, Facial p... |
OMIM:601170 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Onion bulb formation, Peripheral axonal degeneration, Decreased motor nerve conduction velocity, ... |
OMIM:302800 |
| Motor Neuropathy, Peripheral, With Dysautonomia |
|
Orthostatic hypotension, Peripheral demyelination, Decreased nerve conduction velocity, Abnormal ... |
OMIM:252320 |
| Charcot-Marie-Tooth Disease Type 1A |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Acute dem... |
ORPHA:101081 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:600882 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Peripheral axonal neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction veloci... |
ORPHA:99939 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity |
OMIM:605589 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Poor gross motor coordination, Motor conduction block, Decreased number of large peripheral myeli... |
ORPHA:99948 |
| Roussy-Lévy Syndrome |
|
Decreased motor nerve conduction velocity, Clumsiness, Postural tremor, Babinski sign, Frequent f... |
ORPHA:3115 |
| Wild Type Abeta2M Amyloidosis |
|
Axonal loss, Decreased nerve conduction velocity, Decreased amplitude of sensory action potential... |
ORPHA:85446 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... |
OMIM:604563 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Babinski sign, Chorea,... |
OMIM:604168 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration |
OMIM:607677 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Babinski sign, Dysmetria, Myoclonus, Decreased nerve conduction velocity, Intention tremor, Ataxi... |
OMIM:618356 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Ataxia, Peripheral demyelination, Axonal loss |
OMIM:616684 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Tremor, Spastic parapare... |
ORPHA:101077 |
| Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Syncope, Rigidity, Decreased sensory nerve conduction ... |
OMIM:603472 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
| Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials |
OMIM:618912 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration |
OMIM:607731 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Optic atrophy, Motor axonal neuropathy, Decreased nerve conduction velocity, Sensory axonal neuro... |
ORPHA:457205 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Babinski sign, Orthostatic hypotension due to autonomic dysfunction, Symmetric peripheral demyeli... |
OMIM:169500 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Decreased motor nerve conduction velocity, Chronic axonal neuropathy, Fasciculations |
OMIM:606595 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... |
OMIM:162400 |
| Spinocerebellar Ataxia Type 15/16 |
|
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Onion bulb formation, Acute demyelinating polyneuropathy |
ORPHA:98916 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus, Enhancement of the C-reflex, Jerk-locked premyoclonus spikes |
OMIM:615127 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Axonal loss, Frequent falls, Peripheral demyelination, Vocal cord... |
ORPHA:101097 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral dysmyelination, Peripheral axonal neuropathy, Decreased nerve conduction velocity |
ORPHA:101082 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Onion bulb formation, Optic atrophy, Segmental peripheral demyelination/remyelination |
OMIM:311070 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Dysmetria, Babinski sign, Tremor, Sensory axonal neuropathy |
OMIM:612437 |
| Autosomal Recessive Spastic Paraplegia Type 21 |
|
Abnormality of extrapyramidal motor function, Apraxia, Spasticity, Abnormality of peripheral nerv... |
ORPHA:101001 |
| Tremor, Hereditary Essential, 6 |
|
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
| Tremor, Hereditary Essential, 5 |
|
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Optic atrophy, Paraparesis, Tremor, Ataxia, Abnormal nerve conduction velocity |
ORPHA:99014 |
| Autosomal Dominant Spastic Paraplegia Type 17 |
|
Postural tremor, Babinski sign, Spastic gait, Abnormal motor nerve conduction velocity |
ORPHA:100998 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Leukodystrophy, Spasticity |
OMIM:616494 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Tongue fasciculations, Abnormal sensory nerve conduction velocity, Fasciculations |
ORPHA:276435 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Myoclonus, EEG with photo... |
OMIM:613608 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:613287 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Optic atrophy, Babinski sign, Dysmetria, Decreased nerve conduction velocity, Intention tremor, A... |
OMIM:612674 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607831 |
| Incessant Infant Ventricular Tachycardia |
|
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... |
ORPHA:45453 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration/re... |
OMIM:614436 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity |
OMIM:607678 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Leukodystrophy, Decreased nerve conduction velocity, Choreoathetosis |
OMIM:614932 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased motor nerve conduction velocity, Axonal loss, Decreased number of large peripheral myel... |
ORPHA:98856 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia |
OMIM:262400 |
| Cardiomyopathy, Dilated, 1E |
|
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... |
OMIM:601154 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia |
OMIM:615158 |
| Spinocerebellar Ataxia 10 |
|
Dysmetria, Abnormality of extrapyramidal motor function, Decreased nerve conduction velocity, Pro... |
OMIM:603516 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Babinski sign, Truncal titubatio... |
OMIM:610532 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity |
OMIM:302801 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Hypertrophic cardiomyopathy, Optic atrophy, Peripheral demyelination, Spastic tetraplegia |
OMIM:618237 |
| Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive |
|
Optic atrophy, Peripheral demyelination, Gait ataxia |
OMIM:258650 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Hand tremor, Abnormal myelination, Cerebral cortical atrophy |
ORPHA:401830 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Babinski sign, Peripheral axonal neuropathy, Frequent falls, Myoclonus, Fasciculations, Tremor, A... |
OMIM:607317 |
| Macular Degeneration, Age-Related, 3 |
|
Peripheral axonal neuropathy, Decreased nerve conduction velocity |
OMIM:608895 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Cerebellar atrophy, Neurodegeneration, EEG abnormality, Cerebral atrophy |
OMIM:610951 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Adult Krabbe Disease |
|
Clumsiness, Babinski sign, Prolonged brainstem auditory evoked potentials, Hoffmann sign, CNS dem... |
ORPHA:206448 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... |
OMIM:604772 |
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Babinski sign, Decreased number ... |
OMIM:270550 |
| Ataxia-Deafness-Intellectual Disability Syndrome |
|
Ataxia, Decreased nerve conduction velocity |
ORPHA:1188 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Clumsiness, Prolonged brainstem auditory evoked potentials, Frequent falls, Decreased nerve condu... |
ORPHA:206443 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 |
|
Decreased motor nerve conduction velocity, Babinski sign |
OMIM:605726 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Decreased nerve conduction velocity, Paraparesis |
OMIM:302802 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
CNS demyelination, Peripheral demyelination, Gliosis, Tremor, Ataxia |
OMIM:220111 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus |
OMIM:608687 |
| Spinocerebellar Ataxia 43 |
|
Rigidity, Tremor, Ataxia, Limb ataxia, Gait ataxia |
OMIM:617018 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
| Spinocerebellar Ataxia 25 |
|
Decreased number of peripheral myelinated nerve fibers, Ataxia, Babinski sign |
OMIM:608703 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Limb tremor, Abnormal myelination, Cerebral cortical atrophy |
ORPHA:401820 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Facial diplegia |
OMIM:618184 |
| Charcot-Marie-Tooth Disease Type 4D |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Post... |
ORPHA:99950 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Tremor, Neurodegeneration, Cerebellar atrophy |
OMIM:615889 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Peripheral demyelination, Axonal degeneration/regeneration |
OMIM:607736 |
| Ataxia-Pancytopenia Syndrome |
|
Babinski sign, Dysmetria, Decreased nerve conduction velocity, Ataxia, Ankle clonus |
OMIM:159550 |
| Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| Neuromyelitis Optica Spectrum Disorder |
|
Paraplegia, Peripheral demyelination |
ORPHA:71211 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... |
ORPHA:300751 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
| Spinocerebellar Ataxia 18 |
|
Babinski sign, Dysmetria, Progressive gait ataxia, Sensory axonal neuropathy, Tremor, Dysdiadocho... |
OMIM:607458 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity, Arrhythmia |
ORPHA:2928 |
| Metachromatic Leukodystrophy |
|
Babinski sign, Optic atrophy, Chorea, Peripheral demyelination, Decreased nerve conduction veloci... |
OMIM:250100 |
| Spinocerebellar Ataxia Type 25 |
|
Babinski sign, Decreased number of large peripheral myelinated nerve fibers, Spastic dysarthria, ... |
ORPHA:101111 |
| Long Qt Syndrome 10 |
|
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... |
OMIM:611819 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia |
OMIM:617950 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Abnormal autonomic nervous system physiology, Peripheral demyelination, Absent brainstem auditory... |
OMIM:609136 |
| Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Babinski sign, Clonus, Peripheral axonal neuropathy, S... |
OMIM:256840 |
| Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Decreased compound muscle action potential amplitude, Compound muscle action potential amplitude ... |
OMIM:616040 |
| Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Ax... |
OMIM:218000 |
| Atrial Standstill |
|
Syncope, Abnormal P wave, Atrial standstill, Hemiplegia, Reduced ejection fraction, Ventricular e... |
ORPHA:1344 |
| Abetalipoproteinemia |
|
Ataxia, Peripheral demyelination, CNS demyelination |
OMIM:200100 |
| Galloway-Mowat Syndrome 5 |
|
Ataxia, Peripheral demyelination, Spasticity |
OMIM:617731 |
| Atrial Standstill 1 |
|
Atrial standstill, Ventricular escape rhythm, Atrial cardiomyopathy, First degree atrioventricula... |
OMIM:108770 |
| Atrophoderma Vermiculata |
|
Heart block, Neurofibromas |
ORPHA:79100 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Peripheral axonal degeneration, Diffuse axonal swelling, Amyotrophic lateral sclerosis, Axonal de... |
OMIM:602433 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Babinski sign, Tremor |
OMIM:300660 |
| Brugada Syndrome 1 |
|
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... |
OMIM:601144 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia, Poor fine motor coordination |
OMIM:617182 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Hand tremor, Abnormal myelination |
ORPHA:401835 |
| Parkinsonism With Spasticity, X-Linked |
|
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism |
OMIM:300911 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia, Peripheral axonal neuropathy |
OMIM:619099 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Optic atrophy, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, A... |
OMIM:270500 |
| Parkinson Disease 22, Autosomal Dominant |
|
Orthostatic hypotension, Resting tremor, Bradykinesia, Tremor |
OMIM:616710 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Myoclonus, Tremor |
OMIM:611092 |
| Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Optic atrophy, Abnormality of somatosensory evoked potentials, Dysmetria, Chorea... |
ORPHA:98755 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication |
OMIM:314250 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:607080 |
| Multifocal Motor Neuropathy |
|
Motor conduction block, Fasciculations |
ORPHA:641 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Hemiballismus |
OMIM:616921 |
| Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... |
OMIM:605407 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Axonal degeneration, Decreased nerve conduction velocity |
OMIM:618138 |
| Sick Sinus Syndrome 4 |
|
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... |
OMIM:619464 |
| Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia |
ORPHA:314802 |
| Progressive Familial Heart Block, Type Ib |
|
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... |
ORPHA:99105 |
| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Abnormal left ventricular function, Cardiomyopathy, Heart block |
ORPHA:98912 |
| Friedreich Ataxia |
|
Hypertrophic cardiomyopathy, Optic atrophy, Abnormal echocardiogram, Babinski sign, Decreased sen... |
OMIM:229300 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
| Spinocerebellar Ataxia 23 |
|
Babinski sign, CNS demyelination, Dysmetria, Tremor, Limb ataxia, Gait ataxia |
OMIM:610245 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Tremor, Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve,... |
ORPHA:90117 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Stereotypical hand wringing, Hypsarrhythmia |
OMIM:619561 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lower limb s... |
OMIM:260300 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Gliosis, Decreased nerve conduction velocity, Spastic tetraplegia, Ataxia, Abnorma... |
OMIM:256600 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Rigidity, Bradykinesia, Tremor, Substantia nigra gliosis, Parkinsonism |
OMIM:600116 |
| Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Atax... |
ORPHA:101110 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Decreased number of large peripheral myelinated nerve fibers, Hand tremor, Optic nerve hypoplasia... |
ORPHA:101085 |
| Autosomal Recessive Spastic Paraplegia Type 25 |
|
Abnormality of peripheral nerve conduction, Spastic paraplegia, Paraparesis |
ORPHA:101005 |
| Brugada Syndrome 2 |
|
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... |
OMIM:611777 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Hypertension, Peripheral demyelination |
OMIM:616733 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Hemiballismus, Frequent falls |
ORPHA:494526 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic atrophy, Tremor, Ataxia, Incoordination, Abnormal pyramidal sign, Wolff-Parkinson-White syn... |
OMIM:614947 |
| Amyotrophic Lateral Sclerosis 21 |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Abnormal lower motor neuron m... |
OMIM:606070 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Ataxia, Frequent falls |
OMIM:615945 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Neurodegeneration, Tremor, Cerebral atrophy, Abnormal autonomic nervous syste... |
OMIM:300894 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements |
OMIM:618425 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism |
ORPHA:401901 |
| Distal Hereditary Motor Neuropathy Type 5 |
|
Abnormal motor nerve conduction velocity |
ORPHA:139536 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Arrhythmia, Bundle branch block |
ORPHA:1479 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Decreased sensory nerve conduction velocity, Peripheral demyelination, Ataxia, Optic atrophy |
OMIM:609033 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Peripheral axonal neuropathy, Poor fine motor coordination, Decreased nerve conduction velocity, ... |
ORPHA:435387 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dysmetria, Gliosis, Tremor, Ataxia, Incoordination, Spasticity, Limb ataxia, Gait ataxia |
OMIM:213200 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:610297 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... |
OMIM:614954 |
| Progressive Familial Heart Block, Type Ii |
|
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... |
OMIM:140400 |
| Cardiomyopathy, Dilated, 1G |
|
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... |
OMIM:604145 |
| Behr Syndrome |
|
Progressive spasticity, Optic atrophy, Babinski sign, Dysmetria, Tremor, Ataxia |
OMIM:210000 |
| Long Qt Syndrome 14 |
|
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... |
OMIM:616247 |
| Cednik Syndrome |
|
Abnormality of peripheral nerve conduction, Optic atrophy, Ataxia, Congestive heart failure |
ORPHA:66631 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... |
OMIM:611302 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Optic atrophy, Rigidity, Choreoathetosis, Cerebral hypomyelination, Leukodystrophy, Tremor, Ataxi... |
OMIM:612438 |
| Sick Sinus Syndrome 1 |
|
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... |
OMIM:608567 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Clumsiness, Optic atrophy, Babinski sign, Frequent falls, Leukodystrophy, Decreased nerve conduct... |
ORPHA:309263 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Peripheral axonal degeneration, Axonal degeneration, Decreased nerve conduction velocity, Degener... |
OMIM:604320 |
| Riboflavin Deficiency |
|
Hypoglycemia |
OMIM:615026 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Frequent falls, Facial diplegia, Decreased nerve conduction velocity, Fasciculations, Tremor, Par... |
ORPHA:329478 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... |
OMIM:613243 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Optic atrophy, Babinski sign, Optic disc pallor, Dysme... |
OMIM:164400 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... |
ORPHA:79262 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
| Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Optic atrophy, Babinski sign, Spastic tetraplegia |
OMIM:615663 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Ventricular Tachycardia, Familial |
|
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block |
OMIM:192605 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:609016 |
| Combined Oxidative Phosphorylation Defect Type 13 |
|
Lower limb hypertonia, Decreased nerve conduction velocity, Delayed myelination, Choreoathetosis |
ORPHA:319514 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Dysmetria, Motor axonal neuropathy, Intention tremor, Ataxia, Abnormality of peripheral nerve con... |
ORPHA:48431 |
| Tangier Disease |
|
Myocardial infarction, Facial diplegia, Peripheral demyelination, Peripheral axonal neuropathy |
OMIM:205400 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Brain atrophy, Abnormal myelination, Cerebral atrophy |
ORPHA:85179 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Tremor, Peripheral axonal neuropathy |
OMIM:616668 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Myoclonus, EEG with photo... |
OMIM:607876 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Diaminopentanuria |
|
Neurodegeneration |
OMIM:222350 |
| Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... |
ORPHA:45452 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Babinski sign, Knee clonus, Spastic gait, Lower limb spasticity, Ataxia, Ankle clonus, Spastic pa... |
OMIM:604360 |
| Metachromatic Leukodystrophy, Adult Form |
|
Clumsiness, Optic atrophy, Babinski sign, Orthostatic hypotension due to autonomic dysfunction, F... |
ORPHA:309271 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Clonus, Poor coordination, Decreased nerve conduction velocity, Spasticity, Abnormal pyramidal si... |
OMIM:238970 |
| Spinocerebellar Ataxia 7 |
|
Optic atrophy, Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tr... |
OMIM:164500 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Decreased number of large peripheral myelinated nerve fibers, Cho... |
OMIM:208920 |
| Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiparesis, Ataxia, Hemiplegia |
OMIM:141500 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Clumsiness, Optic atrophy, Parkinsonism, Rigidity, Frequent falls, Chorea, Tremor, Spasticity, Up... |
ORPHA:216873 |
| Glycogen Storage Disease Ixa1 |
|
Hypoglycemia |
OMIM:306000 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased sensory nerve conduction velocity, Decreased number of peripheral myelinated nerve fibe... |
OMIM:201300 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... |
OMIM:115200 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Babinski sign, Axonal loss, Dysmetria, Tremor, Ataxia, Tongue fasciculations |
OMIM:618170 |
| Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia |
ORPHA:423296 |
| Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Optic atrophy, Babinski sign, Impaired visually enhanc... |
ORPHA:95 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Frequent falls, Myoclonus, Facial palsy, Fasciculations, Tremor, Tongue fasciculations, Degenerat... |
OMIM:159950 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Parkinsonism, Tremor by anatomical site, Bradykinesia, Intention tremor, Limb dy... |
ORPHA:98762 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Clumsiness, Optic atrophy, Babinski sign, Frequent falls, Leukodystrophy, Decreased nerve conduct... |
ORPHA:309256 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Involuntary movements, Babinski sign, Optic disc pallor, Limb hypertonia, Decreased nerve conduct... |
ORPHA:565624 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... |
OMIM:607688 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia |
OMIM:615362 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... |
OMIM:608758 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... |
OMIM:600858 |
| Acromicric Dysplasia |
|
Decreased nerve conduction velocity |
ORPHA:969 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Tremor, Myoclonus, Prolonged somatosensory evoked potentials |
OMIM:608105 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Peripheral axonal neuropathy, Dysmetria, Tremor, Ataxia, Gait ataxia |
OMIM:618387 |
| Sialidosis Type 1 |
|
Myoclonus, Decreased nerve conduction velocity, Tremor, Ataxia, Slurred speech, EEG abnormality |
ORPHA:812 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia, Cardiac arrest |
OMIM:618951 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Optic atrophy, Cerebellar atrophy, Abnormal myelination |
OMIM:618324 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity |
OMIM:118300 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Decreased nerve conduction velocity |
ORPHA:397744 |
| Dystonia, Dopa-Responsive |
|
Postural tremor, Babinski sign, Torticollis, Bradykinesia, Cogwheel rigidity, Parkinsonism with f... |
OMIM:128230 |
| Pelizaeus-Merzbacher Disease |
|
Optic atrophy, Sudanophilic leukodystrophy, Head titubation, Choreoathetosis, Abnormal CNS myelin... |
OMIM:312080 |
| Aicardi-Goutieres Syndrome 6 |
|
Tremor, Leukodystrophy, Rigidity |
OMIM:615010 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy, Tremor, Ataxia, Spasticity, Delayed CNS myelination |
OMIM:300983 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Babinski sign, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Limb ataxia |
OMIM:615768 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Babinski sign, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spastic ataxia, Tremor, H... |
ORPHA:251282 |
| Familial Dilated Cardiomyopathy |
|
Reduced ejection fraction, Atrial fibrillation, Mitral regurgitation, Palpitations, Ventricular a... |
ORPHA:217607 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Axonal loss, Opisthotonus, Myoclonic spasms, Peripheral demyelination, Gliosis, Spastic tetrapleg... |
OMIM:252160 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations |
OMIM:615048 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Decreased distal sensory nerve action potential, Peripheral axonal neuropathy |
OMIM:618400 |
| Myopathy, Myofibrillar, 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... |
OMIM:601419 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased motor nerve conduction velocity, Facial palsy |
OMIM:607684 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Myoclonus, Tremor, EEG with polyspike wave complexes, Truncal ataxia, Gait ataxia, EEG wi... |
OMIM:618587 |
| Hurler-Scheie Syndrome |
|
Abnormal nerve conduction velocity, Cardiomyopathy, Abnormal pyramidal sign |
ORPHA:93476 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Rigidity, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Parkinsonism |
OMIM:615528 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Spasticity |
OMIM:614307 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Tremor, Parkinsonism, Bradykinesia, Rigidity |
OMIM:168100 |
| X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Decreased motor nerve conduction velocity, Babinski sign, Optic neuropathy, Optic disc pallor, Ha... |
ORPHA:101076 |
| Lichtenstein-Knorr Syndrome |
|
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia |
OMIM:616291 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Ataxia, Stereotypy |
OMIM:617862 |
| Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic atrophy, EEG with focal epileptiform discharges,... |
ORPHA:1187 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Optic atrophy, Spastic tetraplegia, Abnormal pyramidal... |
OMIM:615419 |
| Autosomal Recessive Spastic Paraplegia Type 55 |
|
Onion bulb formation, Optic atrophy, Optic neuropathy, Babinski sign, Decreased sensory nerve con... |
ORPHA:320375 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Abnormality of extrapyramidal mot... |
ORPHA:320406 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle branch bloc... |
OMIM:618920 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Heart-Hand Syndrome Type 3 |
|
Sick sinus syndrome, Bundle branch block |
ORPHA:1342 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block |
OMIM:618782 |
| Multiple System Atrophy |
|
Postural tremor, Parkinsonism, Orthostatic hypotension due to autonomic dysfunction, Rigidity, Fr... |
ORPHA:102 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ataxia, Decreased nerve conduction velocity |
ORPHA:1933 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Chorea, Head tremor, Con... |
OMIM:606002 |
| Spinocerebellar Ataxia Type 37 |
|
Myoclonus, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis, Truncal ataxia |
ORPHA:363710 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Optic atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Neurodegeneratio... |
OMIM:612319 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia... |
OMIM:612158 |
| Infantile Krabbe Disease |
|
Optic atrophy, Opisthotonus, Myoclonus, Decreased nerve conduction velocity, Lower limb spasticit... |
ORPHA:206436 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Optic atrophy, Babinski sign, Frequent falls, Dysmetria, Peripheral demyelination, Lower limb spa... |
ORPHA:171629 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Myoclonus, Tremor, Ataxia, Tetraparesis, Spasticity, Abnormal pyramidal sign |
OMIM:615924 |
| Inherited Creutzfeldt-Jakob Disease |
|
Vestibular nystagmus, Clumsiness, Babinski sign, Abnormal autonomic nervous system physiology, Ch... |
ORPHA:282166 |
| Mononeuropathy Of The Median Nerve, Mild |
|
Peripheral axonal neuropathy |
OMIM:613353 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Vocal cord paralysis, Peripheral axonal n... |
OMIM:615490 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tremor, Parkinsonism with favo... |
ORPHA:314632 |
| Neuroectodermal Melanolysosomal Disease |
|
Optic atrophy, Rigidity, Tremor, Ataxia, Hypertonia, Spasticity |
ORPHA:33445 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Decreased compound muscle action potential amplitude |
OMIM:619519 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Onion bulb formation, Axonal loss |
OMIM:614455 |
| Dystonia 11, Myoclonic |
|
Torticollis, Myoclonus, Tremor |
OMIM:159900 |
| Yuan-Harel-Lupski Syndrome |
|
Gait ataxia, Decreased nerve conduction velocity, Demyelinating peripheral neuropathy |
OMIM:616652 |
| Brugada Syndrome 5 |
|
Ventricular fibrillation, ST segment elevation, Bundle branch block |
OMIM:612838 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Trem... |
ORPHA:240103 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Spastic paraplegia |
OMIM:600363 |
| Glutaric Acidemia I |
|
Opisthotonus, Rigidity, Choreoathetosis, Symmetrical progressive peripheral demyelination, Spasti... |
OMIM:231670 |
| Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Spastic gait, Progressive spastic paraplegia, Basal lamina onion bulb formation, Demyelinating pe... |
ORPHA:2821 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Rigidity, Bradykinesia, Tremor, Parkinsonism, Spastic paraparesis, Abnormal autono... |
ORPHA:329284 |
| Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia |
|
Orthostatic hypotension, Peripheral axonal degeneration, Decreased number of peripheral myelinate... |
OMIM:608720 |
| Glut1 Deficiency Syndrome 2 |
|
Tremor, Ataxia, EEG abnormality, Choreoathetosis |
OMIM:612126 |
| Sneddon Syndrome |
|
Cerebral hemorrhage, Hypertension, Facial palsy, Tremor, Hemiplegia, Ischemic stroke |
OMIM:182410 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis, Atrial flutter, Sick s... |
OMIM:616201 |
| Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
| Spinocerebellar Ataxia Type 14 |
|
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia |
ORPHA:98763 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Rigidity, Bradykinesia, Tremor, Ataxia, EEG abnormality |
OMIM:617836 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Motor axonal neuropathy, Facial palsy, Abnormal pyramidal sign, Sensory axonal neuropathy, Spasti... |
OMIM:256850 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, Bundle branch block |
OMIM:615616 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
| Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Spastic p... |
OMIM:619026 |
| Trigeminal Neuralgia |
|
Peripheral demyelination, Cranial nerve compression, CNS demyelination |
ORPHA:221091 |
| Infantile Neuroaxonal Dystrophy |
|
Progressive spasticity, Optic atrophy, Diffuse axonal swelling, Peripheral axonal neuropathy, Cer... |
ORPHA:35069 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus, Abnormal lower m... |
ORPHA:2590 |
| Parkinson Disease 17 |
|
Rigidity, Bradykinesia, Tremor, Resting tremor, Parkinsonism |
OMIM:614203 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Hypertonia, Myoclonus, Choreoathetosis |
OMIM:261630 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Ventricular tachycardia, Asymmetric septal hypertrophy, Atrial fibrillation, Left bundle branch b... |
OMIM:613838 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Optic atrophy, Spastic tetraparesis, Stereotypy |
OMIM:619470 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Axonal loss, Opisthotonus, Myoclonic spasms, Peripheral demyelination, Gliosis, Spastic tetrapleg... |
OMIM:252150 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnorm... |
|
