| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607734 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:180800 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Axonal loss, Peri... |
OMIM:611228 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased motor nerve conduction velocity, Onion bulb formation, Decreased distal sensory nerve a... |
OMIM:601098 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased... |
ORPHA:206594 |
| Null Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Optic atrophy, CNS hypomyelination, Progressive spas... |
ORPHA:280234 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Froment sign, Vocal cord paralysis, Segmental peripher... |
OMIM:162500 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology, Abnormal pyramidal sign, Peripheral demyelination, ... |
DECIPHER:59 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy |
OMIM:311050 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:609260 |
| Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis |
OMIM:612577 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased... |
OMIM:214400 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Chronic Inflammatory Demyelinating Polyneuropathy |
|
Segmental peripheral demyelination/remyelination, Decreased nerve conduction velocity, Motor cond... |
ORPHA:2932 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:118210 |
| Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... |
OMIM:619279 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity, Arrhythmia, Peripheral demyelination |
ORPHA:99944 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:614895 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased... |
OMIM:607706 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Decreased compound muscle action potential amplitude, Babinski sign, Hand tremor, Frequent falls,... |
OMIM:618279 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Babinski sign, Spastic paraplegia, Optic atrophy, Abnormal myelination, Spasticity, Abnormality o... |
ORPHA:431329 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
| Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia... |
ORPHA:98890 |
| Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction |
ORPHA:65684 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral hypomyelination, Abno... |
OMIM:605253 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Decreased nerve conduction velocity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Abnormal myelination, Spastic gait, Progressiv... |
ORPHA:401840 |
| Hereditary Motor And Sensory Neuropathy V |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Babinski sign, Abnormal ... |
OMIM:600361 |
| Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination, Dystonia |
OMIM:250850 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Cardiomyopathy, Peripheral axonal neuropathy, Onion bu... |
OMIM:610100 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... |
OMIM:601382 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:118200 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:145900 |
| Leukodystrophy, Hypomyelinating, 18 |
|
Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity, Babinski sign, Spa... |
OMIM:618404 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,... |
OMIM:601068 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Spastic tetraparesis, Decreased nerve conduction velocity, Babinski sign, Gait ataxia, CNS demyel... |
OMIM:249900 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... |
OMIM:608673 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Peripheral axonal neuropathy, Onion bulb formation, Peripheral demyelination, Axonal degeneration... |
OMIM:620378 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:118220 |
| Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation, Spastic p... |
OMIM:182815 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Paralysis, Decreased number of large peripheral myelin... |
OMIM:605285 |
| Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Leukodystr... |
OMIM:614561 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Triose Phosphate-Isomerase Deficiency |
|
Decreased nerve conduction velocity, Central nervous system degeneration |
ORPHA:868 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Abnormal motor neuron morp... |
DECIPHER:29 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... |
OMIM:601596 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Decreased nerve conduction velocity, Hypertonia, Ataxia |
ORPHA:1368 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Axonal re... |
OMIM:608323 |
| Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:609311 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:605588 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Babinski sign, EEG abnormality, Axonal loss, Gliosis, Myoclonus, Apraxia, Abnormal upper motor ne... |
OMIM:221770 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13 |
|
Frequent falls, Babinski sign, Decreased compound muscle action potential amplitude, Chaddock reflex |
OMIM:619112 |
| Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Slurred speech, Clumsiness, Hypertonia, T... |
ORPHA:2386 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Dystonia, Ataxia, Facial palsy, Demyelinating motor ne... |
OMIM:608804 |
| Peroxisome Biogenesis Disorder 8B |
|
Lower limb spasticity, Ataxia, Clonus, Rigidity, Babinski sign, Optic atrophy, Limb tremor, Dysme... |
OMIM:614877 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... |
ORPHA:397946 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal sign, Axonal loss, Abnormality of extr... |
OMIM:617672 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:600882 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Axonal degeneration/regen... |
OMIM:606483 |
| Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
EEG with polyspike wave complexes, Jerk-locked premyoclonus spikes, Tremor, Myoclonus, Enhancemen... |
OMIM:615127 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Decreased nerve conduction velocity, Axonal loss, Clusters of axo... |
ORPHA:101097 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis |
ORPHA:640 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Spasticity |
OMIM:611105 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Decreased motor nerve conduction velocity, Fasciculations, Chronic axonal neuropathy |
OMIM:606595 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 |
|
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... |
OMIM:605726 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased distal sensory... |
ORPHA:99953 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Giant soma... |
OMIM:613608 |
| Krabbe Disease |
|
Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, Hypertonia, Decerebrate rigi... |
OMIM:245200 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Decreased nerve conduction velocity, Ataxia |
ORPHA:101078 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, Dystonia, Abnormal periphera... |
ORPHA:457205 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Axonal loss, Ataxia, Peripheral demyelination, Dystonia |
OMIM:616684 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Decreased motor nerve co... |
OMIM:618184 |
| 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 |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... |
ORPHA:99948 |
| Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Ataxia, Chorea, Axonal... |
OMIM:604168 |
| Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Acute demyelinating polyneuropathy, Onion bulb formation, Gait ataxia |
ORPHA:98916 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Decreased nerve conduction velocity, Myelin outfoldings, Onion bulb formation, Brain atrophy |
OMIM:615284 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Tetrapl... |
OMIM:604484 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Symmetric peripheral demyelination, Babinski sign, Pseudobulbar paralysis, Gliosis, Leuko... |
OMIM:169500 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased... |
OMIM:302800 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Clonus, Babinski sign, Spastic paraplegia, Abnormal au... |
ORPHA:139578 |
| Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Decreased nerve conduction velocity, Congestive heart failure, Tetra... |
ORPHA:85446 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Decreased nerve conduction velocity, Choreoathetosis, Leukodystrophy, Dystonia |
OMIM:614932 |
| Charcot-Marie-Tooth Disease Type 1A |
|
Acute demyelinating polyneuropathy, Decreased motor nerve conduction velocity, Decreased sensory ... |
ORPHA:101081 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Tremor, Spastic parapare... |
ORPHA:101077 |
| Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
| 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, Type 4B2 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:604563 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
| Roussy-Lévy Syndrome |
|
Decreased motor nerve conduction velocity, Postural tremor, Babinski sign, Limb ataxia, Clumsines... |
ORPHA:3115 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Demyelinating motor neuropathy, D... |
ORPHA:99939 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Decreased motor nerve conduction velocity, Truncal titubation, Babinski sign, Abnormal pyramidal ... |
OMIM:610532 |
| Spinocerebellar Ataxia Type 43 |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Limb ... |
ORPHA:497764 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Axonal degeneration/rege... |
OMIM:218000 |
| Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity, Sensory axonal neuropathy |
ORPHA:309169 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Hippocampal sclerosis, Myoclonus, Interictal epileptiform activity |
OMIM:615400 |
| Spastic Paraplegia 55, Autosomal Recessive |
|
Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign, Optic atrophy, Spastic parapl... |
OMIM:615035 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination |
OMIM:607791 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Peripheral dysmyelination |
ORPHA:101082 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Ataxia, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Dysmetria, Spasticity,... |
OMIM:612674 |
| Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
| Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
| Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Decreased nerve conduction velocity, Hand tremor |
ORPHA:352675 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Decreased motor nerve conduction velocity, Fasciculations |
OMIM:615575 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, EEG abnormality, Neurodegeneration |
OMIM:610951 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Abnormal nerve conduction velocity |
ORPHA:101075 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity |
OMIM:605589 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Abnormal nerve conduction v... |
OMIM:619862 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyelination |
OMIM:311070 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Decreased motor nerve conduction velocity, Axonal loss, Spasticity, Frequent falls, Motor axonal ... |
OMIM:620068 |
| Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia... |
OMIM:607684 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Onion bulb formation, Peripheral demyelination, Axonal regeneration |
OMIM:615185 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased... |
OMIM:162400 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Torticollis, Head tremor, Dystonia, Intention tremor |
OMIM:613724 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12 |
|
Decreased motor nerve conduction velocity |
OMIM:614751 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8 |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials |
OMIM:618912 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation |
OMIM:616039 |
| Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Ataxia, Tremor, Rigidity, Syncope, Decreased sensory n... |
OMIM:603472 |
| Stxbp1-Related Encephalopathy |
|
Ataxia, EEG with abnormally slow frequencies, Tremor, Delayed myelination, Spastic tetraplegia, M... |
ORPHA:599373 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:613287 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Sensory axonal neuropathy |
OMIM:612437 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Tremor, Paraparesis, Optic atrophy, Abnormal nerve conduction velocity |
ORPHA:99014 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Abnormal sensory nerve conduction velocity, Tongue fasciculations, Fasciculations, Upper ... |
ORPHA:276435 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Axonal degeneration, F... |
OMIM:614436 |
| Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dystonia, Arrhythmia |
OMIM:614860 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration |
OMIM:607677 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Ataxia, Tremor, Decreased ... |
ORPHA:206443 |
| Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:608895 |
| Autosomal Recessive Spastic Paraplegia Type 21 |
|
Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Apraxia, Spasticity, Abnor... |
ORPHA:101001 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia |
OMIM:617018 |
| Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Spastic tetrap... |
OMIM:250100 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cerebral cortical atrophy, Hand tremor, Abnormal myelination |
ORPHA:401830 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
ORPHA:98856 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration |
OMIM:607731 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Peripheral axonal neuropathy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign... |
OMIM:607317 |
| Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607831 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607250 |
| Spinocerebellar Ataxia 38 |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
| Spinocerebellar Ataxia 10 |
|
Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Dysm... |
OMIM:603516 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1J |
|
Decreased motor nerve conduction velocity |
OMIM:620111 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Cerebral cortical atrophy, Limb tremor, Abnormal myelination |
ORPHA:401820 |
| Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
| Ataxia-Deafness-Intellectual Disability Syndrome |
|
Decreased nerve conduction velocity, Cerebral cortical atrophy |
ORPHA:1188 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Cardiomyopathy, Myoclonus, Dystonia, Frequent falls |
OMIM:619647 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Peripheral de... |
OMIM:608340 |
| Spastic Paraplegia 17, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Lower limb spasticity, Postural tremor, Babinski sign,... |
OMIM:270685 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Progressive spastic paraparesis, Hoffmann... |
ORPHA:206448 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Clonus, Decreased nerve conduction velocity, Poor coordination, Abnormal pyramidal sign, Truncal ... |
OMIM:238970 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity |
OMIM:607678 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Progressive truncal ataxia, Spastic ataxia, Decreased motor nerve conduction velocity, Ataxia, De... |
OMIM:270550 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
| Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... |
OMIM:113900 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:600116 |
| Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
| Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Decreased motor nerve conduction velocity, Incoordination, Ataxia, Babinski sign, Abnormal pyrami... |
OMIM:616688 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity |
OMIM:302801 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Decreased ... |
OMIM:601455 |
| Primary Lateral Sclerosis, Juvenile |
|
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... |
OMIM:606353 |
| Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
| Autosomal Dominant Spastic Paraplegia Type 17 |
|
Babinski sign, Postural tremor, Spastic gait, Abnormal motor nerve conduction velocity |
ORPHA:100998 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Ataxia, Decreased nerve conduction velocity, Babinski sign, Dysmetria, Dysdiadochokinesis, Hypert... |
OMIM:618356 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus, EEG with generalized epileptiform discharges |
OMIM:616187 |
| Charcot-Marie-Tooth Disease Type 4D |
|
Decreased motor nerve conduction velocity, Postural tremor, Demyelinating peripheral neuropathy, ... |
ORPHA:99950 |
| Ataxia-Pancytopenia Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Babinski sign, Dysmetria, Ankle clonus |
OMIM:159550 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
| Lethal Congenital Contracture Syndrome 8 |
|
Facial diplegia, Peripheral hypomyelination, Vocal cord paralysis |
OMIM:616287 |
| Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona... |
OMIM:617087 |
| Spinocerebellar Ataxia Type 25 |
|
Decreased number of large peripheral myelinated nerve fibers, Babinski sign, Gait ataxia, Spastic... |
ORPHA:101111 |
| Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
| Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Chorea, Slurred speech, Optic atrophy, Dysmetria, Bradykinesia, Progressive cere... |
ORPHA:98755 |
| Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Lower limb spasticity, Peripheral axonal neuropathy, C... |
OMIM:256840 |
| Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Decreased nerve conduction velocity, Paraparesis |
OMIM:302802 |
| Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Focal dystonia, C... |
ORPHA:216873 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Peripheral demyelination, Axonal degeneration/regeneration |
OMIM:607736 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
| Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
| Neuromyelitis Optica Spectrum Disorder |
|
Peripheral demyelination, Paraplegia |
ORPHA:71211 |
| Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... |
OMIM:616053 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Tremor, Decreased motor nerve conduction velocity, Axonal loss |
OMIM:118300 |
| Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
| Combined Oxidative Phosphorylation Defect Type 13 |
|
Decreased nerve conduction velocity, Delayed myelination, Choreoathetosis, Lower limb hypertonia,... |
ORPHA:319514 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Hand tremor, Abnormal myelination |
ORPHA:401835 |
| Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Sensory axonal neu... |
OMIM:607458 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Spastic tetraplegia, Abnormal pyramid... |
OMIM:256600 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Tongue fasciculations, L... |
OMIM:619851 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity, Axonal degeneration |
OMIM:618138 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Gait ataxia |
ORPHA:217012 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Y |
|
Decreased motor nerve conduction velocity |
OMIM:616687 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Spastic paraparesis, ... |
OMIM:614487 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Cerebral dysmyel... |
OMIM:609136 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
| Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity, Arrhythmia |
ORPHA:2928 |
| Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Vestibular schwannoma, Decreased compound muscle action potential amplitude |
OMIM:613641 |
| Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... |
OMIM:616040 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia |
OMIM:615945 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Heart block, Cardiomyopathy, Abnormal left ventricular function |
ORPHA:98912 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:615490 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Demyelinating sensory neuropathy, Optic nerve hypoplasia, De... |
ORPHA:101085 |
| Atrophoderma Vermiculata |
|
Heart block, Neurofibroma |
ORPHA:79100 |
| Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
| Abetalipoproteinemia |
|
CNS demyelination, Ataxia, Peripheral demyelination |
OMIM:200100 |
| Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Decreased sensory nerve conduction velocity, Optic atrophy, Peripheral demyelination, Ataxia |
OMIM:609033 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... |
OMIM:602433 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Parkinsonism, Tremor, Decreased nerve conduction velocity, Facial diplegia, Cardiomyopathy, Fasci... |
ORPHA:329478 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Clumsiness, Progressive gait a... |
ORPHA:309263 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Poor fine motor coordination, Decreased nerve conduction velocity, Peripheral axonal neuropathy, ... |
ORPHA:435387 |
| Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co... |
OMIM:607876 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
| Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Lower limb spasticity, Involuntary movements, Decreased nerve conduction veloc... |
ORPHA:565624 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Friedreich Ataxia |
|
Abnormal EKG, Ataxia, Congestive heart failure, Babinski sign, Optic atrophy, Limb ataxia, Gait a... |
OMIM:229300 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia, Clumsiness, Progr... |
ORPHA:309256 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Spinocerebellar Ataxia 23 |
|
Tremor, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, CNS demyelination |
OMIM:610245 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Hypertension, Peripheral demyelination |
OMIM:616733 |
| Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Clumsiness, Progressiv... |
ORPHA:309271 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Tremor, Abnormal peripheral action potential amplitude, Limb fasciculations, Abnormality of the s... |
ORPHA:90117 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Cardiomyopathy, Myoclonus, Dystonia |
OMIM:619651 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
| Diaminopentanuria |
|
Neurodegeneration |
OMIM:222350 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Peripheral axonal neuropathy, Ataxia |
OMIM:619099 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Frequent falls, Hemiballismus |
ORPHA:494526 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
| Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Dysmetria, Gait ... |
ORPHA:95 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:607080 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Congestive heart failure, Chorea, Dilated cardiomyopathy, ... |
OMIM:606703 |
| Multifocal Motor Neuropathy |
|
Fasciculations, Motor conduction block |
ORPHA:641 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... |
ORPHA:45452 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity |
OMIM:616494 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Dysmyelinating leukodystrophy, Optic atrophy, Neurodegeneration, At... |
OMIM:612319 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction veloci... |
OMIM:201300 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... |
OMIM:164500 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Decreased nerve conduction velocity, Axonal degeneration, Diaphra... |
OMIM:604320 |
| Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Leukodystrophy, Dystonia, Oculomotor ap... |
OMIM:612438 |
| Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... |
OMIM:606070 |
| Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Chorea, Babinski sign, Optic atroph... |
OMIM:164400 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Brain atrophy, Cerebral atrophy, Abnormal myelination |
ORPHA:85179 |
| Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Raynaud phenomenon, Abno... |
ORPHA:102 |
| Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Delayed CNS myelination, Ataxia, Tremor, Optic atrophy, Spasticity |
OMIM:300983 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
EEG with polyspike wave complexes, Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia, EEG wi... |
OMIM:618587 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Abnormal pyramidal sign, Dysmetria, Abnormality of peripheral nerve conduction, Motor axo... |
ORPHA:48431 |
| Tangier Disease |
|
Facial diplegia, Peripheral axonal neuropathy, Peripheral demyelination, Myocardial infarction |
OMIM:205400 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... |
ORPHA:98762 |
| Cednik Syndrome |
|
Congestive heart failure, Optic atrophy, Abnormality of peripheral nerve conduction, Ataxia |
ORPHA:66631 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Babinski s... |
OMIM:604360 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... |
OMIM:617047 |
| Distal Hereditary Motor Neuropathy Type 5 |
|
Abnormal motor nerve conduction velocity |
ORPHA:139536 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Dystonia, Ataxia, Decreased number of large peripheral myelinated... |
OMIM:208920 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity |
OMIM:615924 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Congestive heart failure, Chorea, Dilated cardiomyopathy, Myoclonus, Dystonia, Li... |
ORPHA:324588 |
| Congenital Myopathy 10A, Severe Variant |
|
Abnormal motor nerve conduction velocity, Diaphragmatic paralysis, Facial palsy, Tongue fascicula... |
OMIM:614399 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... |
ORPHA:314632 |
| Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... |
OMIM:617284 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Ataxia, Tremor, Dysmetria, Gait a... |
OMIM:618387 |
| Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sign, Action tremor |
OMIM:620158 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... |
ORPHA:521406 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Abnormal autonomic nervous... |
ORPHA:329284 |
| Sialidosis Type 1 |
|
Ataxia, Tremor, Decreased nerve conduction velocity, Slurred speech, EEG abnormality, Myoclonus |
ORPHA:812 |
| Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Ataxia, Involuntary movements, Decreased number of large peripheral myelinated nerve fibers, Babi... |
OMIM:271245 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Babinski sign, Optic atrophy, ... |
ORPHA:171629 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... |
ORPHA:251282 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Conjunctival telangiectasia, Peripheral axonal neuropa... |
OMIM:606002 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Delayed CNS myelination, Ataxia, Eyelid myoclonus |
OMIM:616421 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
| Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... |
ORPHA:454887 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... |
ORPHA:240103 |
| Myopathy, Myofibrillar, 1 |
|
Facial palsy, Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restricti... |
OMIM:601419 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, EEG abnormality, Dystonia |
OMIM:617836 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Gliosis, Spasticity |
OMIM:213200 |
| Optic Atrophy 11 |
|
Delayed CNS myelination, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, EEG with fo... |
OMIM:617302 |
| Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Raynaud phenomenon, Abno... |
ORPHA:98933 |
| Pelizaeus-Merzbacher Disease, Classic Form |
|
Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Abnormal pyramidal sign, Titu... |
ORPHA:280219 |
| Acromicric Dysplasia |
|
Decreased nerve conduction velocity |
ORPHA:969 |
| Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis, Spastic paraplegia, Abnormality of peripheral nerve conduction |
ORPHA:101005 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Decreased nerve conduction velocity, Vocal cord paralysis |
ORPHA:397744 |
| Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Cerebral atrophy, Atrophy/Degenera... |
OMIM:616192 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioventricular block,... |
OMIM:310300 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
| Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:254881 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Neurodegeneration, Hand tremor, Dystonia |
OMIM:615889 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... |
OMIM:604169 |
| Infantile Krabbe Disease |
|
Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction... |
ORPHA:206436 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Leukodystrophy, Dystonia |
OMIM:617916 |
| Trigeminal Neuralgia |
|
CNS demyelination, Cranial nerve compression, Peripheral demyelination |
ORPHA:221091 |
| Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
| X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Clasp-knife sign, Optic neuropathy,... |
ORPHA:101076 |
| Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Ataxia, Severe demyelination of the white matter, Opti... |
ORPHA:1187 |
| Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria |
ORPHA:363710 |
| Autosomal Recessive Spastic Paraplegia Type 55 |
|
Lower limb spasticity, Optic neuropathy, Babinski sign, Optic atrophy, Poor fine motor coordinati... |
ORPHA:320375 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
| Pelizaeus-Merzbacher Disease |
|
Generalized dystonia, Ataxia, Writer's cramp, Cerebral dysmyelination, Reduction of oligodendrogl... |
OMIM:312080 |
| Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
| Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
| Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Abnormal aut... |
OMIM:618049 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Spastic tetraplegia, Decreased motor nerve conduction velocity, Optic atrophy, Abnormal pyramidal... |
OMIM:615419 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Facial palsy, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus, Freq... |
OMIM:159950 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordi... |
ORPHA:79263 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Axial dystonia, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction vel... |
OMIM:619026 |
| Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus, EEG with spike-wave complexes (2.5-3.5 Hz) |
OMIM:616366 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Apraxia, Spasticity |
OMIM:617810 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Tremor, Cerebral atrophy, Neurodegeneration, Abnormal autonomic nervous syste... |
OMIM:300894 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsarrhythmia, EEG abnorm... |
ORPHA:485421 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... |
OMIM:612158 |
| Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus |
ORPHA:98763 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait |
OMIM:600363 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, EEG abnormality, Ataxia, Gait ataxia |
OMIM:617831 |
| Inherited Creutzfeldt-Jakob Disease |
|
Amyloidosis of peripheral nerves, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal py... |
ORPHA:282166 |
| Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia |
OMIM:128235 |
| Muscle Filaminopathy |
|
Right bundle branch block, Cardiomyopathy, Left ventricular diastolic dysfunction, Abnormality of... |
ORPHA:171445 |
| Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Raynaud phenomenon, Abno... |
ORPHA:227510 |
| Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
| Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia |
OMIM:618093 |
| Infantile Neuroaxonal Dystrophy |
|
Peripheral axonal neuropathy, Ataxia, Spastic tetraparesis, Cerebellar gliosis, Abnormal pyramida... |
ORPHA:35069 |
| Cerebrotendinous Xanthomatosis |
|
Axonal degeneration, Abnormal pyramidal sign, Abnormal motor evoked potentials, Gliosis, Ataxia, ... |
ORPHA:909 |
| Hurler-Scheie Syndrome |
|
Abnormal nerve conduction velocity, Cardiomyopathy, Abnormal pyramidal sign |
ORPHA:93476 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, CNS hypomyelination, Le... |
OMIM:607694 |
| Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Ataxia |
ORPHA:1933 |
| Spinocerebellar Ataxia 25 |
|
Decreased number of peripheral myelinated nerve fibers, Oculomotor apraxia, Babinski sign, Ataxia |
OMIM:608703 |
| Glutaric Acidemia I |
|
Rigidity, Delayed myelination, Spastic diplegia, Opisthotonus, Choreoathetosis, Symmetrical progr... |
OMIM:231670 |
| Developmental And Epileptic Encephalopathy 4 |
|
Delayed CNS myelination, Tremor, EEG with burst suppression, Spastic paraplegia, Spastic tetraple... |
OMIM:612164 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Spastic tetraplegia, Opisthotonus, Axonal loss, Hypertonia, Gliosis, Myoclonic spasms, Peripheral... |
OMIM:252160 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Peripheral axonal degeneration, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Parapar... |
OMIM:615157 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Abnormal autonomic nervous system physiology, Atrioventricular block |
ORPHA:85447 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Spastic paraplegia, Abnorma... |
OMIM:256850 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Oromandibular dystonia, Neurodegeneration, Dystonia |
OMIM:615643 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
| Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, EEG with spike-wave complexes, Ataxia, Myoclonus |
OMIM:614018 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, CNS hypomyelination, Facial dipleg... |
OMIM:618186 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Delayed CNS myelination, Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, ... |
OMIM:618877 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Axonal loss, Gliosis, Myoclonic spasms, ... |
OMIM:252150 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Ataxia, Clonus, Demyelinating motor neuropathy, Babinski sign, Abnormal pyramidal sign, Dysmetria... |
OMIM:616479 |
| Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... |
OMIM:611705 |
| Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Choreoathetosis, EEG abnormality, Dystonia |
OMIM:612126 |
| Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Premature ventricular contraction |
ORPHA:1964 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of peripheral somatosensory evoked potentials, Decreased distal sensory nerve action ... |
ORPHA:466768 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Delayed CNS myelination, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradyki... |
OMIM:619725 |
| Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec... |
ORPHA:398124 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis |
ORPHA:600 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, ... |
ORPHA:85451 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Delayed myelination, Axonal degeneration, Neurodegeneration, Abnormal autonomic... |
ORPHA:478029 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Cardiac conduction abnormality, Segmental peripheral demyelination/remyelination, Chorea,... |
ORPHA:255210 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Axonal loss, Onion bulb formation |
OMIM:614455 |
| Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
| Lethal Congenital Contracture Syndrome 5 |
|
Decreased nerve conduction velocity, EEG with burst suppression, Subdural hemorrhage, Retinal hem... |
OMIM:615368 |
| Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
| Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio... |
OMIM:115195 |
| Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
| Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Degeneration of anterior horn cells, Decreased compound muscle action potential amplitude, Facial... |
OMIM:301830 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Vocal cord paresis, ... |
OMIM:601152 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Poor fine motor coordination, Sick sinus syndrome, Bradycardia |
OMIM:617182 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmetria, CNS hypomyelination, Gait atax... |
OMIM:614381 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
| 4H Leukodystrophy |
|
Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormalit... |
ORPHA:289494 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Optic atrophy, D... |
OMIM:616505 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Hypsarrhythmia, Poor fine motor coordination, Sick sinus syndrome, Bra... |
ORPHA:542306 |
| Multiple Sulfatase Deficiency |
|
CNS demyelination, Spasticity, Ataxia, Peripheral demyelination |
OMIM:272200 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased number of larg... |
ORPHA:298 |
| Heart-Hand Syndrome, Spanish Type |
|
Sick sinus syndrome |
OMIM:140450 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Decreased nerve conduction velocity, Abnormal CNS myelination, Cerebellar atrophy, Optic atrophy |
OMIM:610651 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Reduc... |
OMIM:181350 |
| Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Tremor, Athetosis, EEG abnormality, Hypertonia |
OMIM:617106 |
| Behr Syndrome |
|
Ataxia, Tremor, Babinski sign, Optic atrophy, Dysmetria, Progressive spasticity, Truncal ataxia, ... |
OMIM:210000 |
| Peho Syndrome |
|
Optic atrophy, Myoclonus, Peripheral dysmyelination, Hypsarrhythmia |
OMIM:260565 |
| Kearns-Sayre Syndrome |
|
Hemiplegia/hemiparesis, Ataxia, Third degree atrioventricular block |
ORPHA:480 |
| Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Lower limb spasticity, Ataxia, Delayed peripheral myelination, Fasciculations, Dystonia, Spastici... |
ORPHA:464282 |
| Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Cerebral hemorrhage, Tremor, Congestive heart failure, Cranial ne... |
ORPHA:94080 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Ataxia, Dysmetria |
OMIM:617917 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Optic atrophy, Hyps... |
ORPHA:442835 |
| Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neuropathy, Progressive... |
ORPHA:2821 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Decreased compound muscle action potential amplitude |
OMIM:619519 |
| Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Tremor, Hypertension, Myoclonus, Abnormal autonomic nerv... |
ORPHA:97229 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
| Rigid Spine Syndrome |
|
Cardiac conduction abnormality |
ORPHA:97244 |
| X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Peripheral axonal neuropathy, Tremor, Dysmyelinating leukodystrophy, Babinski sig... |
ORPHA:137898 |
| Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials, Sensory ax... |
OMIM:618733 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
| Cln5 Disease |
|
Abnormal central motor function, Ataxia, Tremor, Poor gross motor coordination, Multifocal epilep... |
ORPHA:228360 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal peripheral nerve morphology by anatomical site, Abnormal peripheral myelination, Abnorma... |
ORPHA:168563 |
| Congenital Myopathy 24 |
|
Cardiomyopathy, Facial palsy, First degree atrioventricular block |
OMIM:617336 |
| Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Weakness due to upper motor neuron dysfunction, Facial... |
ORPHA:79139 |
| Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Abnormal nerve conduction velocity |
ORPHA:2926 |
| Refsum Disease |
|
Ataxia, Heart block, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Cardiomyopathy |
ORPHA:773 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... |
ORPHA:99103 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor |
OMIM:619738 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Babinski sign, Optic... |
ORPHA:52368 |
| Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
| Yuan-Harel-Lupski Syndrome |
|
Decreased nerve conduction velocity, Demyelinating peripheral neuropathy, Gait ataxia |
OMIM:616652 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Tremor, Abnormal CNS myelination, Babinski sign, Spastic paraplegia |
ORPHA:477673 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Truncal ataxia, Atrioventricular block, Bradycardia, Dystonia, Intention tremor |
OMIM:614407 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Right bundle branch block |
OMIM:613158 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... |
ORPHA:542323 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Axonal degeneration, Gait ataxia, Abnormal sensory nerve conduction v... |
ORPHA:88628 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... |
OMIM:115197 |
| Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia |
OMIM:607398 |
| Neuropathy, Hereditary Sensory, Type Ie |
|
Decreased number of peripheral myelinated nerve fibers, Ataxia |
OMIM:614116 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... |
OMIM:255160 |
| Scheie Syndrome |
|
Abnormal nerve conduction velocity, Cerebral palsy, Aortic regurgitation, Spastic paraparesis |
ORPHA:93474 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration |
ORPHA:438134 |
| Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... |
ORPHA:75566 |
| Desminopathy |
|
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... |
ORPHA:98909 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
| Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
| Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Dysmetria, Gait ataxia, Choreoathet... |
ORPHA:101 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Dystonia |
ORPHA:306669 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Babinski sign, Torsion d... |
OMIM:128100 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal ... |
OMIM:168600 |
| Mononeuropathy Of The Median Nerve, Mild |
|
Peripheral axonal neuropathy |
OMIM:613353 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... |
OMIM:261640 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Hypertonia, Leukodystrophy, Intention tremor, Ataxia, Hypsarrhythmia, EEG abnormality, Ao... |
OMIM:619475 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... |
OMIM:300055 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... |
ORPHA:263297 |
| Tetanus |
|
Tachycardia, Tremor, Rigidity, Opisthotonus, Hypertension, Hypertonia, Abnormal autonomic nervous... |
ORPHA:3299 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Resting tremor, Parkinsonism, Focal EEG discharges with secondary generali... |
ORPHA:3077 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
ORPHA:99949 |
| Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Decreased compound muscle action potential amplitude |
OMIM:618323 |
| Spinocerebellar Ataxia Type 27 |
|
Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Sensory axonal neuropathy |
ORPHA:98764 |
| Atrial Septal Defect, Ostium Primum Type |
|
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... |
ORPHA:99106 |
| Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Tricuspid regurgitation, Ataxia, Optic atrophy, Dysmetria, CNS hypomyelination, Right bundle bran... |
OMIM:619576 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Right bundle branch block, Dilated cardiomyopathy, Left ventricular systolic dysfunction |
ORPHA:206559 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Neurodegeneration, Cerebral atrophy, Dystonia |
ORPHA:309246 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Delayed CNS myelination, Ataxia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Athetosis... |
OMIM:617710 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Delayed myelination, Neurodegeneration, Brain atrop... |
OMIM:214150 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Oculomotor apraxia, Spasticity |
ORPHA:529665 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Ataxia, Abnormal atrioventricular conduction, Spastic tetraparesis,... |
ORPHA:3208 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
| Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... |
OMIM:224700 |
| Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Tremor, Decreased nerve conduction velocity, Decerebrate rigidity, Progre... |
ORPHA:512 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Postural tremor, Head titubation, Optic atrophy, Cerebral atrophy, Neurodegen... |
OMIM:615491 |
| Naxos Disease |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:601214 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia |
ORPHA:70594 |
| Sneddon Syndrome |
|
Facial palsy, Cerebral hemorrhage, Tremor, Hypertension, Ischemic stroke, Hemiplegia |
OMIM:182410 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... |
ORPHA:99750 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Tremor, Optic a... |
OMIM:614298 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Severe demyelination of the white matter, Pulmonary embolism, Dilated cardiomyopathy, Opt... |
ORPHA:79282 |
| Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
| Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia, Limb ataxia, Gait ... |
OMIM:614575 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Delayed CNS myelination, Neurodegeneration |
OMIM:620210 |
| Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia, Myoclonus, Opisthotonus |
OMIM:619814 |
| Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Hypotension |
ORPHA:178509 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity |
ORPHA:477817 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia |
OMIM:233910 |
| Alternating Hemiplegia Of Childhood |
|
Ataxia, Cardiac conduction abnormality, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal p... |
ORPHA:2131 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Optic atrophy, Abnormal myelination |
ORPHA:352682 |
| Cockayne Syndrome B |
|
Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Tremor, Decreased n... |
OMIM:133540 |
| Cockayne Syndrome A |
|
Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Tremor, Decreased n... |
OMIM:216400 |
| Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
| Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Optic atrophy, Cerebral atrophy, Choreoathetosis, Frontotemporal cerebr... |
ORPHA:391428 |
| Wilson Disease |
|
Dystonia, Poor motor coordination, Tremor, Rigidity, Decreased nerve conduction velocity, Hand tr... |
OMIM:277900 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Opt... |
ORPHA:254930 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, At... |
ORPHA:99027 |
| Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Opisthotonus, ... |
OMIM:617013 |
| Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Babinski sign, Optic atrophy, Spastic tetraplegia |
OMIM:615663 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
EEG with multifocal slow activity, Diffuse cerebral atrophy, Abnormal myelination |
ORPHA:289266 |
| Chediak-Higashi Syndrome |
|
Decreased nerve conduction velocity, Neurodegeneration, Tremor |
OMIM:214500 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Optic atrophy, CNS hypomyelination, Neurodegeneration, Neuronal loss in centr... |
OMIM:616239 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
| Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Substantia nigra gliosis, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with... |
OMIM:607060 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
| Danon Disease |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac... |
OMIM:300257 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia |
ORPHA:664 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Cardiomyopathy, Abnormal atrioventricular conduction, Abnormal pyramidal sign, Limb dysmetria |
ORPHA:329336 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
| Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Babinski sign, Abnormal pyramida... |
ORPHA:79138 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity |
ORPHA:1170 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, H... |
OMIM:105210 |
| Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Paralysis, Tremor, Shortened PR interval, Tetraplegia, Impaired myocardial... |
ORPHA:79102 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Right bundle branch block |
OMIM:300695 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Dystonia, Ataxia, Tremor, Dysmetria, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopa... |
OMIM:220111 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Right bundle branch block, Bilateral facial palsy, Frequent falls |
ORPHA:254361 |
| Cockayne Syndrome |
|
Optic disc pallor, Peripheral axonal neuropathy, Ataxia, Cerebral dysmyelination, Action tremor, ... |
ORPHA:191 |
| Peroxisome Biogenesis Disorder 4B |
|
Decreased nerve conduction velocity, Optic atrophy, Ataxia |
OMIM:614863 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Decreased compound muscle action potential amplitude, Facial palsy |
OMIM:603511 |
| Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
| East Syndrome |
|
Peripheral axonal neuropathy, Peripheral hypomyelination, Ataxia, Action tremor |
ORPHA:199343 |
| Congenital Disorder Of Deglycosylation 1 |
|
Delayed CNS myelination, Involuntary movements, Chorea, Delayed myelination, Dysmetria, Athetosis... |
OMIM:615273 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cerebral hemorrhage, Tremor, Conge... |
ORPHA:276621 |
| Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... |
ORPHA:1329 |
| Typhoid |
|
Gastrointestinal hemorrhage, Ataxia, Epistaxis, Cardiac arrest, Tremor, Hypertonia, Arrhythmia |
ORPHA:99745 |
| Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Congest... |
ORPHA:439 |
| Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration |
ORPHA:803 |
| Scorpion Envenomation |
|
Bundle branch block, Hemifacial spasm, Tachycardia, Ataxia, Cardiac conduction abnormality, Tremo... |
ORPHA:466677 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Dysmetria, EEG abnormality, Decr... |
ORPHA:456312 |
| Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology |
OMIM:243000 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Speech apraxia, Bundle branch block, Poor fine motor coordination, First degree atrioventricular ... |
ORPHA:589821 |
| D-Bifunctional Protein Deficiency |
|
Decreased nerve conduction velocity, Cerebellar atrophy, Corpus callosum atrophy, Cerebral dysmye... |
OMIM:261515 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Facial palsy, Clonus, Left ventricular noncompaction cardiomyopathy, Tremor, Cardiogenic shock, D... |
OMIM:619424 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... |
OMIM:212138 |
| Spinocerebellar Ataxia Type 21 |
|
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... |
ORPHA:98773 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, CNS hypomyelinat... |
OMIM:618527 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Neurodegeneration, Cerebral atrophy, Dystonia |
OMIM:272750 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Decreased distal sensory nerve action potential, Tremor, Optic atrophy, Vocal cord paralysis, Poo... |
ORPHA:99956 |
| Poliomyelitis |
|
Abnormal motor nerve conduction velocity, Paralysis, Paraparesis, Hypertension, Hypovolemic shock... |
ORPHA:2912 |
| Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Ataxia, Hypertension, Dysdiadochokinesis, Peripheral hypomyelination, Chronic axonal neuropathy, ... |
OMIM:612780 |
| Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... |
OMIM:137440 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... |
OMIM:601005 |
| Primary Hyperoxaluria |
|
Optic disc pallor, Heart block, Raynaud phenomenon, Arterial occlusion, Optic atrophy, Cardiomyop... |
ORPHA:416 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Decreased nerve conduction velocity, Demyelinating peripheral neuropathy |
ORPHA:90658 |
| Myotonic Dystrophy 1 |
|
Facial diplegia, Atrial flutter, Atrial fibrillation, First degree atrioventricular block |
OMIM:160900 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Decreased compound muscle action potential amplitude, Clonus |
OMIM:620080 |
| Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality... |
OMIM:613280 |
| Chédiak-Higashi Syndrome |
|
Cerebellar atrophy, Decreased nerve conduction velocity, Atrophy of the spinal cord, Tremor, Brai... |
ORPHA:167 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Decreased motor nerve conduction velocity |
OMIM:613640 |
| Choreoacanthocytosis |
|
Chorea, Hypertonia, Limb dystonia, Laryngeal dystonia, Decreased amplitude of sensory action pote... |
ORPHA:2388 |
| Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... |
ORPHA:98853 |
| Melas |
|
Wolff-Parkinson-White syndrome, Peripheral axonal neuropathy, Abnormal central motor function, At... |
ORPHA:550 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... |
ORPHA:1677 |
| Hurler Syndrome |
|
Cerebral palsy, Angina pectoris, Abnormal pyramidal sign, Cardiomyopathy, Hypertension, Spastic p... |
ORPHA:93473 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Tremor, Ataxia, Dysmetria, Titubation |
OMIM:619405 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe... |
ORPHA:240071 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Tachycardia, Periodic paralysis |
OMIM:613239 |
| Marbach-Rustad Progeroid Syndrome |
|
Intention tremor, Pulmonary insufficiency, Right bundle branch block, CNS hypomyelination |
OMIM:619322 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Incoordination, Dystonia, Tremor, Optic atrophy, Dysmetria, Clumsin... |
ORPHA:845 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C... |
ORPHA:1880 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Cerebral palsy, Spastic tetraplegia, Athetosis, Hypertension, Second degree atrioventricular bloc... |
OMIM:615474 |
| Cardiogenic Shock |
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Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Vocal cord paralysi... |
ORPHA:98863 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Cerebral palsy, Epistaxis, Spastic paraplegia, Intracranial hemorrhage, Athetosis, Hypertension, ... |
ORPHA:369929 |
| Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Blepharospasm, Bradykinesia, Gliosis, Dystonia |
ORPHA:683 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cerebral hemorrhage, Tremor, Conge... |
ORPHA:29072 |
| Aceruloplasminemia |
|
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Chorea, Congestive he... |
ORPHA:48818 |
| Cockayne Syndrome Type 1 |
|
Lower limb spasticity, Absent brainstem auditory responses, Ataxia, Tremor, Optic atrophy, Hypert... |
ORPHA:90321 |
| Serotonin Syndrome |
|
Tachycardia, Clonus, Tremor, Rigidity, Hypertension, Hypertonia, Myoclonus, Hypotension, Abnormal... |
ORPHA:43116 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
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Arrhythmia, Facial palsy, Left bundle branch block, Ventricular bigeminy |
OMIM:610131 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Abnormal EKG, Chorea, Right bundle branch block, Brachial plexus neuropathy, Reduced left ventric... |
ORPHA:268 |
| Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Central nervous system degeneration, In... |
ORPHA:447788 |
| Neurodegeneration With Brain Iron Accumulation 2B |
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Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Neurodegeneration, Dystonia, Intention tremor |
OMIM:610217 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Heart block, Cardiomyopathy, Arrhythmia |
ORPHA:228308 |
| Friedreich Ataxia 2 |
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Abnormal EKG, Incoordination, Ataxia, Congestive heart failure, Babinski sign, Concentric hypertr... |
OMIM:601992 |
| Cartilage-Hair Hypoplasia |
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Heart block, EEG abnormality, Aganglionic megacolon, Cardiomyopathy |
ORPHA:175 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
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Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dilated cardiomyopa... |
ORPHA:98855 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
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Generalized dystonia, Cerebral atrophy, Hypsarrhythmia, Neurodegeneration, Dystonia |
OMIM:618321 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Orthostatic hypotension, Incoordination, Tachycardia, Decreased number of large peripheral myelin... |
OMIM:223900 |
| Polymyositis |
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Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Neurodegeneration, Paroxysmal dystonia, Arm dystonia |
ORPHA:79244 |
| Combined Oxidative Phosphorylation Deficiency 15 |
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Wolff-Parkinson-White syndrome, Optic disc pallor, Incoordination, Ataxia, Tremor, Optic atrophy,... |
OMIM:614947 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
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Abnormality of the autonomic nervous system, Motor axonal neuropathy, Decreased amplitude of sens... |
ORPHA:36386 |
| Hereditary Sensory And Autonomic Neuropathy Type 5 |
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Decreased number of small peripheral myelinated nerve fibers |
ORPHA:64752 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
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Right bundle branch block, Delayed CNS myelination, Optic atrophy, Spasticity |
OMIM:618590 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia |
OMIM:616812 |
| Mucopolysaccharidosis Type 2 |
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Papilledema, Decreased nerve conduction velocity, Optic atrophy, Hypertension, Cardiomyopathy, Ar... |
ORPHA:580 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric... |
ORPHA:26793 |
| Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Abn... |
OMIM:146500 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Dystonia, Ataxia, Tremor, Chorea, CNS hypomyelination, Athetosis, EEG abnormality... |
OMIM:615356 |
| Cockayne Syndrome Type 3 |
|
Optic disc pallor, Peripheral axonal neuropathy, Subdural hemorrhage, Retinal hemorrhage, Astrocy... |
ORPHA:90324 |
| Adult-Onset Dystonia-Parkinsonism |
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Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
| Lyme Disease |
|
Arrhythmia, Atrioventricular block |
ORPHA:91546 |
| Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Atrioventricular block, First degree atrioventricular block |
ORPHA:392 |
| Myotonic Dystrophy 2 |
|
Right bundle branch block, Tachycardia, Palpitations, Premature ventricular contraction |
OMIM:602668 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Aortic regurgitation, Delayed CNS myelination, Tricuspid regurgitation, First degree atrioventric... |
OMIM:620066 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
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EEG abnormality, Second degree atrioventricular block, Hypertension, Pulmonary arterial hypertension |
OMIM:617021 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... |
ORPHA:93672 |
| Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... |
ORPHA:324 |
| Meier-Gorlin Syndrome 7 |
|
Heart block, Second degree atrioventricular block |
OMIM:617063 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Decreased number of small peripheral myelinated nerve fibers, Postural hypotension with compensat... |
OMIM:256800 |
| Kearns-Sayre Syndrome |
|
Cardiomyopathy, Arrhythmia, Ataxia, Third degree atrioventricular block |
OMIM:530000 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Titubation, Cerebral hypomyelination, Abnormal myelination |
ORPHA:280210 |
| Scimitar Syndrome |
|
Heart block, Congestive heart failure, Left-to-right shunt, Pulmonary arterial hypertension |
ORPHA:185 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Neurodegeneration, Optic atrophy, Cerebral atrophy, Dystonia |
OMIM:616878 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
| Multiple Sulfatase Deficiency |
|
Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:585 |
| Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:615530 |
| Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin |
OMIM:609438 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi... |
ORPHA:99827 |
| Hyperoxaluria, Primary, Type I |
|
Optic neuropathy, Raynaud phenomenon, Arterial occlusion, Optic atrophy, Atrioventricular block, ... |
OMIM:259900 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Papilledema, Hypertension, Atrioventricular block |
ORPHA:371428 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... |
ORPHA:70591 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Optic atrophy, Abnormal py... |
OMIM:234200 |
| Early Infantile Epileptic Encephalopathy |
|
Tremor, EEG with burst suppression, Delayed myelination, Hypsarrhythmia, Choreoathetosis, EEG abn... |
ORPHA:1934 |
| Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Astrocytosis, Bradykinesia, Glios... |
OMIM:601104 |
| Noonan Syndrome With Multiple Lentigines |
|
Bundle branch block, Myocardial infarction, Arrhythmia, Pulmonic stenosis, Hypertrophic cardiomyo... |
ORPHA:500 |
| Adrenoleukodystrophy |
|
Neurodegeneration |
OMIM:300100 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Abnormal myelination |
OMIM:617333 |
| Niemann-Pick Disease Type C |
|
Axial dystonia, Lower limb spasticity, Speech apraxia, Dystonia, Ataxia, Tremor, Chorea, Upper mo... |
ORPHA:646 |
| Heart Block, Congenital |
|
Atrioventricular block, Absent atrioventricular node, Cardiomyopathy, Mitral regurgitation, Atria... |
OMIM:234700 |
| Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... |
ORPHA:2299 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Neurodegeneration, Optic atrophy |
OMIM:618476 |
| Eisenmenger Syndrome |
|
Left-to-right shunt, Tricuspid regurgitation, Atrial fibrillation, Angina pectoris, Right ventric... |
ORPHA:97214 |
| Hurler Syndrome |
|
Abnormal CNS myelination, Neurodegeneration |
OMIM:607014 |
| Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
| Mucopolysaccharidosis, Type Ii |
|
Papilledema, Neurodegeneration |
OMIM:309900 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cerebellar atrophy, Optic disc pallor, Dystonia, Delayed myelination, Optic atrophy, Cerebral atr... |
ORPHA:404454 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Decreased number of peripheral myelinated nerve fibers, Ataxia, Dystonia |
OMIM:256810 |
| Sarcoidosis |
|
Abnormal cardiac ventricular function, Facial palsy, Portal hypertension, Heart block, Ventricula... |
ORPHA:797 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Neurodegeneration |
OMIM:615919 |
| Mucopolysaccharidosis Type 3 |
|
Vocal cord paresis, Ataxia, Optic atrophy, Abnormal pyramidal sign, Atrioventricular block, Hyper... |
ORPHA:581 |
| Bohring-Opitz Syndrome |
|
Delayed peripheral myelination |
OMIM:605039 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Tricuspid regurgitation, Optic nerve hypoplasia, Right bundle branch block, Mitral regurgitation,... |
OMIM:617506 |
| Nestor-Guillermo Progeria Syndrome |
|
Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, S... |
OMIM:614008 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia |
ORPHA:1578 |
| African Trypanosomiasis |
|
Papilledema, Pericarditis, Abnormal central motor function, Abnormal EKG, Involuntary movements, ... |
ORPHA:3385 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Decreased nerve conduction velocity, Arrhythmia |
ORPHA:285 |
| Steinert Myotonic Dystrophy |
|
Peripheral axonal neuropathy, Atrial fibrillation, Prolonged QRS complex, Left ventricular systol... |
ORPHA:273 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Hype... |
ORPHA:280365 |
| Mucopolysaccharidosis, Type Vii |
|
Neurodegeneration |
OMIM:253220 |
| Leopard Syndrome 1 |
|
Bundle branch block, Hypertrophic cardiomyopathy, Third degree atrioventricular block, Pulmonic s... |
OMIM:151100 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Right bundle branch block, Congestive heart failure, Hypertrophic cardiomyopathy, Gliosis |
OMIM:617403 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Abnormal myelination |
ORPHA:67045 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia, Atrioventricular block |
ORPHA:93317 |
| Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Cardiomyopathy |
ORPHA:373 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Delayed peripheral myelination |
ORPHA:364577 |
| Monosomy 18Q |
|
Choreoathetosis, Abnormal myelination |
ORPHA:1600 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Dystonia, Action tremor, Abnormal myelination |
ORPHA:309854 |
| Pearson Syndrome |
|
Cardiomyopathy, Ataxia, Cardiac conduction abnormality |
ORPHA:699 |
| Acromesomelic Dysplasia 4 |
|
Third degree atrioventricular block |
OMIM:619636 |
| Leptospirosis |
|
Papilledema, Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctiv... |
ORPHA:509 |
| Nijmegen Breakage Syndrome |
|
Neurodegeneration |
OMIM:251260 |
| Atrial Septal Defect 1 |
|
Second degree atrioventricular block, Aortic valve stenosis |
OMIM:108800 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Cardiac conduction abnormality, Delayed myelination, EEG abnormality, Pulmonic stenosis, Aortic v... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Cardiac conduction abnormality, Delayed myelination, EEG abnormality, Pulmonic stenosis, Aortic v... |
ORPHA:353277 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
EEG abnormality, Aortic valve stenosis, Cardiac conduction abnormality, Pulmonic stenosis |
ORPHA:353281 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Tricuspid regurgitation, Right bundle branch block |
OMIM:617402 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Abnormality of the autonomic nervous system, Syncope, Abnormality of peripheral nerve conduction,... |
ORPHA:642 |
| Immunodeficiency 87 And Autoimmunity |
|
Hypertension, Third degree atrioventricular block, Dilated cardiomyopathy, Pulmonary arterial hyp... |
OMIM:619573 |
| Degcags Syndrome |
|
Abnormal myelination |
OMIM:619488 |
| Primrose Syndrome |
|
Neurodegeneration |
OMIM:259050 |
| Orofaciodigital Syndrome Type 14 |
|
Abnormal myelination |
ORPHA:434179 |
