Guillain-Barre Syndrome, Familial |
|
Acute demyelinating polyneuropathy |
OMIM:139393 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Peripheral axonal degeneration, Incoordination, Cerebellar atrophy, Dysmetria, Hand tremor, Frequ... |
OMIM:302800 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Peripheral axonal degeneration, Ulnar claw, CNS hypomyelination, Hammertoe, Hypertrophic nerve ch... |
OMIM:214400 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Peripheral axonal degeneration, Hammertoe, Fasciculations, Axonal degeneration, Steppage gait, Ax... |
OMIM:614436 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Inability to walk, Spastic paraplegia, Spasticity, Abnormal myelination, Babinski sign, Optic atr... |
ORPHA:431329 |
Optic Atrophy 2 |
|
Babinski sign, Tremor, Optic atrophy, Dysdiadochokinesis |
OMIM:311050 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Axonal loss, Frequent falls, Onion bulb formation, Decreased nerve conduction velocity, Decreased... |
OMIM:611228 |
Neuronopathy, Distal Hereditary Motor, Type Vc |
|
Frequent falls, Thenar muscle atrophy, Chaddock reflex, Decreased compound muscle action potentia... |
OMIM:619112 |
Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:615193 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Paralysis, Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelinati... |
OMIM:605285 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Axonal loss, Abnormality of somatosensory evoked potentials, Abnormality of the autonomic nervous... |
ORPHA:206594 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Hypertonia, Hammertoe, Onion bulb formation, Steppage gait, Decreased number of peripheral myelin... |
OMIM:609260 |
Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... |
OMIM:187800 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Axonal loss, Sensory axonal neuropathy, Hand muscle atrophy, Hammertoe, Decreased number of large... |
ORPHA:98856 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Peripheral demyelination, Segmental peripheral demyelination/remyelination, Abnormal nerve conduc... |
ORPHA:2932 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:613112 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Action tremor, Hammertoe, Hypertrophic nerve changes, Segmental peripheral demyelination/remyelin... |
OMIM:180800 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Abnormal cranial nerve morphology, Decreased number of large peri... |
OMIM:601596 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Progressive spastic paraplegia, Spastic gait, Hand tremor, Lower limb spasticity, Abnormal myelin... |
ORPHA:401840 |
Null Syndrome |
|
Progressive spastic paraplegia, Peripheral demyelination, CNS hypomyelination, Inability to walk,... |
ORPHA:280234 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... |
OMIM:619271 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Hammertoe, Onion bulb formation, Steppage gait, Axonal degeneration/regeneration, Decreased numbe... |
OMIM:118210 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Fasciculations, Degeneration of anterior horn cells, Axonal degeneration, Decreased ... |
OMIM:604484 |
Leukodystrophy, Hypomyelinating, 18 |
|
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Dystonia, Abnormal m... |
OMIM:618404 |
Episodic Ataxia, Type 1 |
|
Incoordination, Spastic gait, Babinski sign, Episodic ataxia, Abnormality of the hand, Slurred sp... |
OMIM:160120 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity, Ataxia, Gait disturbance, Distal upper limb amyotrophy, Tremor |
ORPHA:101075 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Cerebral atrophy, Hypogonadotropic hypogonadism, Peripheral demye... |
OMIM:604168 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Small thenar eminence, Small hypothenar eminence, Onion bulb formation, Peripheral hypomyelinatio... |
OMIM:609311 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Intrinsic hand muscle atrophy, Spastic paraparesis, Inability to walk, Hand muscle weakness, Demy... |
ORPHA:101077 |
Monomelic Amyotrophy |
|
Fasciculations, Degeneration of anterior horn cells, Distal upper limb amyotrophy, Abnormality of... |
ORPHA:65684 |
Hereditary Motor And Sensory Neuropathy V |
|
Abnormal pyramidal sign, Frequent falls, Hammertoe, Peripheral axonal neuropathy, Decreased motor... |
OMIM:600361 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Abnormal sensory nerve conduction velocity, Intrinsic ha... |
ORPHA:276435 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Diffuse axonal swelling, ... |
OMIM:602433 |
Charcot-Marie-Tooth Disease Type 4A |
|
Bilateral talipes equinovarus, Hyporeflexia of upper limbs, Frequent falls, Chronic axonal neurop... |
ORPHA:99948 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Hand muscle atrophy, Spastic gait, Abnormal motor nerve conduction velocity, Split hand, Hand mus... |
ORPHA:100998 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Hammertoe, Onion bulb formation, Steppage gait, Peripheral axonal neuropathy, Decreased motor ner... |
OMIM:610100 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Abnormal pyramidal sign, Dystonia, Ataxia, Leukodystrophy, Spasticity, Hemiplegia, Gait disturban... |
OMIM:614561 |
Roussy-Lévy Syndrome |
|
Frequent falls, Intrinsic hand muscle atrophy, Unsteady gait, Gait ataxia, Talipes equinovarus, D... |
ORPHA:3115 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Hand tremor, Thenar muscle atrophy, Decreased nerve conduction velocity, Steppage gait, Difficult... |
ORPHA:352675 |
Autosomal Recessive Spastic Paraplegia Type 21 |
|
Abnormal pyramidal sign, Apraxia, Spasticity, Gait disturbance, Frontotemporal cerebral atrophy, ... |
ORPHA:101001 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Intrinsic hand muscle atrophy, Decreased number of large peripheral... |
ORPHA:90103 |
Leukodystrophy, Hypomyelinating, 2 |
|
Cerebral atrophy, Sensory axonal neuropathy, Dystonia, Choreoathetosis, Intention tremor, Spastic... |
OMIM:608804 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Incoordination, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Neurodegeneration, Apr... |
OMIM:615157 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Talipes equinovarus, Axonal degeneration, Steppage gait, Gait disturbance |
OMIM:616155 |
Leukodystrophy, Hypomyelinating, 13 |
|
Ataxia, Leukodystrophy, Failure to thrive, Spasticity, Clonus, Delayed myelination, Optic atrophy... |
OMIM:616881 |
Macrothrombocytopenia and progressive sensorineural deafness |
|
Giant platelets, Thrombocytopenia, Macrothrombocytopenia |
OMIM:600208 |
Sebastian syndrome |
|
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies |
OMIM:605249 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Progressive spastic paraplegia, Spastic gait, Lower limb spasticity, Cerebral cortical atrophy, L... |
ORPHA:401820 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Inability to walk, Vocal cord paralysis, Axonal degeneration, Decreased number of peripheral myel... |
OMIM:615490 |
Charcot-Marie-Tooth Disease, Axonal, Type 2O |
|
Decreased motor nerve conduction velocity, Frequent falls, Falls |
OMIM:614228 |
Early-Onset X-Linked Optic Atrophy |
|
Choreoathetosis, Intention tremor, Decreased nerve conduction velocity, Gait ataxia, Optic disc p... |
ORPHA:98890 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Ulnar claw, Chronic axonal neuropathy, Fasciculations, Steppage gait, Decreased motor nerve condu... |
OMIM:606595 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Metaphyseal chondrodysplasia, Diffuse cerebral atrophy, Gait disturbance, Bab... |
OMIM:300660 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Inability to walk, Steppage gait, Demyelinating motor neuropathy, Decreased nerve conduction velo... |
ORPHA:99939 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb form... |
OMIM:606482 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Cerebral atrophy, Sensory axonal neuropathy, EEG abnormality, Dystonia, Premature pubarche, Crypt... |
ORPHA:457205 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Cerebellar atrophy, Dystonia, Choreoathetosis, Decreased number o... |
OMIM:208920 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Hammertoe, Steppage gait, Axonal degeneration/regeneration, Decreased number of peripheral myelin... |
OMIM:600882 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Ulnar claw, Hammertoe, Hypertrophic nerve changes, Segmental peripheral demyelination/remyelinati... |
OMIM:118220 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Axonal loss, Talipes cavus equinovarus, Segmental peripheral demyelination/remyelination, Onion b... |
OMIM:601455 |
Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Weakness of the intrinsic hand muscles, Fasciculations, Decreased motor nerve conduction velocity... |
OMIM:615575 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Charcot-Marie-Tooth Disease Type 4D |
|
Hammertoe, Decreased amplitude of sensory action potentials, Split hand, Inability to walk, Demye... |
ORPHA:99950 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Thenar muscle weakness, Abnormal motor nerve conduction velocity, Hammertoe, Thenar muscle atroph... |
ORPHA:139536 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Hand muscle atrophy, Axonal degeneration, Failure to thrive, Tongue fasciculations, Clonus, Falls |
OMIM:618811 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Onion bulb formation, Steppage gait, Axonal degeneration/regeneration, Decreased number of periph... |
OMIM:605588 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Decreased nerve conduction velocity, Gait disturbance |
ORPHA:101078 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:615376 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Peripheral axonal neuropathy, Spasticity, Babinski sign, Tremor |
OMIM:611105 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Abnormal nerve conduction velocity, Ataxia, Paraparesis, Gait disturbance, Optic atrophy, Tremor |
ORPHA:99014 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... |
OMIM:616040 |
Charcot-Marie-Tooth Disease Type 4G |
|
Peripheral demyelination, Demyelinating peripheral neuropathy, Motor conduction block, Distal upp... |
ORPHA:99953 |
Intellectual Developmental Disorder, Autosomal Recessive 4 |
|
Delayed myelination |
OMIM:611107 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Ulnar claw, Peripheral demyelination, Hammertoe, Hypertrophic nerve changes, Myelin outfoldings, ... |
OMIM:118200 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Ulnar claw, Hammertoe, Segmental peripheral demyelination/remyelination, Onion bulb formation, St... |
OMIM:604563 |
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis |
|
Cerebral atrophy, Delayed myelination, Inability to walk, Tetraplegia |
OMIM:618331 |
Cataract-Ataxia-Deafness Syndrome |
|
Hypertonia, Ataxia, Decreased nerve conduction velocity, Tremor |
ORPHA:1368 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Axonal regeneration, Onion bulb formation, Steppage gait, Hammertoe |
OMIM:615185 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Fasciculations, Bradykinesia, Ataxia, Decreased nerve conduction velocity, Rigidity, Spasticity |
OMIM:183050 |
Parkinsonism With Polyneuropathy |
|
Resting tremor, Decreased amplitude of sensory action potentials, Bradykinesia, Decreased motor n... |
OMIM:619279 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Axonal degeneration, Decreased nerve conduction velocity... |
OMIM:618138 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Progressive spastic paraplegia, Sensory axonal neuropathy, Spastic paraplegia, Abnormal autonomic... |
ORPHA:139578 |
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy |
|
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Diff... |
OMIM:618912 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Frequent falls, Ataxia, Unsteady gait, Tremor |
OMIM:615945 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Decreased nerve conduction velocity, Fai... |
OMIM:618356 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Ataxia, Slurred speech, Tremor |
OMIM:613227 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Onion bulb formation, Decreased nerve conduction velocity, Gait disturbance, Brain atrophy, Synda... |
OMIM:615284 |
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 Type 1A |
|
Demyelinating peripheral neuropathy, Decreased sensory nerve conduction velocity, Decreased motor... |
ORPHA:101081 |
Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Brachydactyly, Premature ovarian insufficiency, Decreased nerve conduction velocity, Truncal obes... |
ORPHA:2928 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Hand muscle atrophy, Peripheral demyelination, Decreased nerve conduction velocity, Gait disturbance |
ORPHA:99944 |
Spinocerebellar Ataxia 43 |
|
Cerebellar vermis atrophy, Ataxia, Gait ataxia, Rigidity, Limb ataxia, Tremor |
OMIM:617018 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, U... |
ORPHA:98769 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Proximal muscle weakness in upper limbs, Hand muscle atrophy, Frequent falls, Hammertoe, Steppage... |
ORPHA:435387 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Segmental peripheral demyelination/remyelination, Myelin outfoldings, Onion bulb formation, Clust... |
OMIM:607734 |
Pelizaeus-Merzbacher disease |
|
Leukodystrophy, Abnormal CNS myelination |
DECIPHER:38 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Segmental peripheral demyelination/remyelination, Froment sign, Hand muscle weakness, Vocal cord ... |
OMIM:162500 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Ulnar claw, Hammertoe, Decreased distal sensory nerve action potential, Peripheral axonal neuropa... |
OMIM:618400 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Dystonia, Apraxia, Ataxia, Spasticity, Neurodegeneration, Premature ovarian i... |
OMIM:615889 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Ulnar claw, Hammertoe, Hypertrophic nerve changes, Segmental peripheral demyelination/remyelinati... |
OMIM:145900 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Peripheral demyelination, Vocal cord paresis, Decreased number of large peripheral myelinated ner... |
OMIM:614895 |
Spinocerebellar Ataxia Type 1 |
|
Abnormality of somatosensory evoked potentials, Atrophy/Degeneration affecting the brainstem, Cer... |
ORPHA:98755 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Cerebral atrophy, Failure to thrive, Spasticity, Delayed myelination, Difficulty walking |
OMIM:617393 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Spastic tetraparesis, Peripheral demyelination, Decreased nerve conduction velocity, Gait ataxia,... |
OMIM:249900 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination, Hand tremor |
ORPHA:401835 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Jerk-locked premyoclonus spikes, EEG with photoparoxysmal response, Enhancement of the C-reflex, ... |
OMIM:613608 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Vocal cord paresis, Onion bulb formation, Axonal degeneration/regeneration, Decreased number of p... |
OMIM:607706 |
Leukodystrophy, Hypomyelinating, 5 |
|
Intention tremor, Loss of ability to walk, Inability to walk, Onion bulb formation, Leukodystroph... |
OMIM:610532 |
Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Cerebellar atrophy, Difficulty walking, Tremor |
ORPHA:423296 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Peripheral axonal neuropathy, Spas... |
OMIM:607317 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Dysmetria, Gait ataxia, Neuronal loss in central nervous system, Limb ataxia,... |
OMIM:610245 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Vocal cord paralysis, Difficulty walking, Tremor |
OMIM:158580 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Irregular myelin loops, Abnormal auditory evoked potentials, Decreased motor nerve conduction vel... |
OMIM:601382 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Ankle clonus, Cerebellar atrophy, Unsteady gait, Limb ataxia, Spasticity, Truncal ataxia, Babinsk... |
OMIM:615768 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies |
OMIM:155100 |
Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Cerebellar atrophy, Spasticity, Tremor |
ORPHA:217012 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Parkinsonism, Short stepped shuffling gait, Resting tremor, Shuffling gait, Bradykinesia, Rigidit... |
ORPHA:306692 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity, Steppage gait |
OMIM:302801 |
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
|
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity |
OMIM:162600 |
Krabbe Disease |
|
Decerebrate rigidity, Peripheral demyelination, EEG abnormality, Decreased nerve conduction veloc... |
OMIM:245200 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity, Steppage gait |
OMIM:607678 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Ataxia, Tremor |
OMIM:213000 |
Charcot-Marie-Tooth Disease Type 1F |
|
Proximal muscle weakness in upper limbs, Cervical spinal cord atrophy, Optic nerve hypoplasia, Sc... |
ORPHA:101085 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Dysmetria, Hammertoe, Ataxia, Steppage gait, Gait ataxia, Peripheral axonal n... |
OMIM:618387 |
Developmental And Epileptic Encephalopathy 91 |
|
Cerebral atrophy, Unsteady gait, Multifocal epileptiform discharges, Spasticity, Delayed myelinat... |
OMIM:617711 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Spastic gait, Dysmetria, Hammertoe, Cerebellar vermis atrophy, Falls, Decreased number of large p... |
OMIM:270550 |
Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Dysmetria, Sensory axonal neuropathy, Progressive gait ataxia, Dysdiadochokin... |
OMIM:607458 |
Late-Infantile/Juvenile Krabbe Disease |
|
Frequent falls, EEG with persistent abnormal rhythmic activity, Spastic diplegia, Spastic parapar... |
ORPHA:206443 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Onion bulb formatio... |
OMIM:605253 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the seventh cranial nerve, Limb fasciculations, Abnormal peripheral action potenti... |
ORPHA:90117 |
Behr Syndrome |
|
Cerebellar atrophy, Dysmetria, Ataxia, Progressive spasticity, Gait disturbance, Babinski sign, O... |
OMIM:210000 |
Bernard-Soulier Syndrome |
|
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... |
OMIM:231200 |
Dystonia 23 |
|
Cerebellar atrophy, Axial dystonia, Head tremor, Limb dystonia, Cerebral cortical atrophy, Gait d... |
OMIM:614860 |
Epilepsy, Progressive Myoclonic, 1B |
|
Sensory axonal neuropathy, Dysmetria, Babinski sign, Tremor |
OMIM:612437 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Peripheral axonal degeneration, Small for gestational age, Degeneration of anterior horn cells, A... |
OMIM:604320 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, EEG wit... |
OMIM:601068 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebral atrophy, Cerebellar atrophy, Action tremor, Parkinsonism, Apraxia, Bradykinesia, Impaire... |
OMIM:300423 |
Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome |
|
Bilateral talipes equinovarus, Hypogonadotropic hypogonadism, Inability to walk, Demyelinating pe... |
ORPHA:2560 |
Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Cerebellar vermis atrophy, Cogwheel rigidity, Myoclonus, Gait disturbance, Li... |
ORPHA:363710 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Segmental peripheral demye... |
OMIM:601098 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Infertility, Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Abnormal vagina... |
ORPHA:168563 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Axonal loss, Cerebral atrophy, Cerebellar atrophy, Decreased body weight, Peripheral demyelinatio... |
OMIM:617672 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal sensory nerve conduction velocity, Ataxia, Axonal degeneration, Abnormality of periphera... |
ORPHA:88628 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Abnormal pyramidal sign, Dysmetria, Hypogonadotropic hypogonadism, Intention tremor, Ataxia, Cere... |
ORPHA:48431 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Tremor |
OMIM:617917 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Hyperkinetic movements, Tremor |
OMIM:616921 |
Developmental And Epileptic Encephalopathy 58 |
|
Spastic diplegia, Inability to walk, Delayed myelination, Optic atrophy, Hypsarrhythmia |
OMIM:617830 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Ankle clonus, Dysmetria, Poor coordination, Spasticity, Clumsiness, Babinski sign, Spastic ataxia... |
OMIM:270500 |
Spinocerebellar Ataxia Type 12 |
|
Cerebral atrophy, Cerebellar atrophy, Action tremor, Abnormal pyramidal sign, Parkinsonism, Inten... |
ORPHA:98762 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Progressive spastic paraplegia, Hand tremor, Spastic dysarthria, Lower limb spasticity, Cerebral ... |
ORPHA:401830 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Tremor |
ORPHA:494526 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Palmoplantar hyperkeratosis, Spastic paraplegia, Tremor |
OMIM:309560 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, CNS hypomyelination, Ataxia, Leukodystrophy, Failure to thrive, Spasticity, M... |
OMIM:616494 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination, Dystonia |
OMIM:250850 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... |
OMIM:260300 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Inability to walk, Facial diplegia |
OMIM:618184 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Cerebral atrophy, Parkinsonism, Dystonia, Bradykinesia, Rigidity, Gait disturbance, Tremor |
OMIM:600116 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Dystonia, Choreoathetosis, Ataxia, Leukodystrophy, Rigidity, Spasticity, Cere... |
OMIM:612438 |
Neuronal Intranuclear Inclusion Disease |
|
Ataxia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, R... |
OMIM:603472 |
Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
Spinocerebellar Ataxia 20 |
|
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor |
OMIM:608687 |
Developmental And Epileptic Encephalopathy 97 |
|
Stereotypical hand wringing, Inability to walk, Hypsarrhythmia, Tremor |
OMIM:619561 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... |
OMIM:605407 |
Myh9-Related Disease |
|
Giant platelets, Congenital thrombocytopenia, Increased mean platelet volume, Neutrophil inclusio... |
ORPHA:182050 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Peripheral demyelination, Onion bulb formation, Decreased nerve conduction velocity |
OMIM:608236 |
Spinal Muscular Atrophy, Jokela Type |
|
Fasciculations, Difficulty walking, Hammertoe, Tremor |
OMIM:615048 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Tremor, Limb dystonia, Upp... |
ORPHA:216873 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Decreased motor nerv... |
OMIM:607831 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Paraparesis, Decreased nerve conduction velocity, Steppage gait |
OMIM:302802 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Decreased nerve conduction velocity, Spa... |
OMIM:612674 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Gait disturbance |
OMIM:611808 |
Gabriele-De Vries Syndrome |
|
Dystonia, Cryptorchidism, Long fingers, Delayed myelination, Waddling gait, Tremor |
OMIM:617557 |
Sitosterolemia 1 |
|
Impaired platelet aggregation, Hypercholesterolemia, Giant platelets, Splenomegaly, Elevated circ... |
OMIM:210250 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Ulnar claw, Hammertoe, Steppage gait, Hypotrophy of the small hand muscles, Decreased motor nerve... |
OMIM:607684 |
Parkinson Disease 22, Autosomal Dominant |
|
Orthostatic hypotension, Resting tremor, Bradykinesia, Gait disturbance, Tremor |
OMIM:616710 |
Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Cerebellar atrophy, Abnormal pyramidal sign, Isometric tremor, Intention tremor, ... |
ORPHA:101110 |
Triose Phosphate-Isomerase Deficiency |
|
Central nervous system degeneration, Diaphragmatic paralysis, Decreased nerve conduction velocity |
ORPHA:868 |
Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Dysmetria, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Babins... |
OMIM:159550 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Hand tremor, Chronic axonal neuropathy, Frequent falls, Decreased number of large peripheral myel... |
OMIM:162400 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Atrophy of the spinal cord, Spastic gait, Decreased amplitude of sensory action potentials, Spast... |
OMIM:256840 |
Optic Atrophy 3, Autosomal Dominant |
|
Abnormality of extrapyramidal motor function, Optic disc pallor, Optic atrophy, Tremor |
OMIM:165300 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Leukodystrophy, Dystonia, Choreoathetosis, Decreased nerve conduction velocity |
OMIM:614932 |
Slc35A1-Cdg |
|
Neutropenia, Giant platelets, Thrombocytopenia, Abnormal platelet granules |
ORPHA:238459 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Ankle clonus, Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Bradykinesia, Tremor,... |
ORPHA:521406 |
Fechtner syndrome |
|
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies |
OMIM:153640 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Cerebral atrophy, Dystonia, Inability to walk, Obesity, Ataxia, Lower limb spasticity, Talipes eq... |
OMIM:616756 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Myoclonus, Tremor |
OMIM:616187 |
Aicardi-Goutieres Syndrome 6 |
|
Dystonia, Loss of ability to walk, Leukodystrophy, Rigidity, Tremor |
OMIM:615010 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Split hand, Steppage gait, Hammertoe |
OMIM:118300 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Ataxia, Diffuse cerebral atrophy, Abnormality of extrapyramidal motor functio... |
OMIM:615362 |
Spinocerebellar Ataxia 10 |
|
Incoordination, Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Decreased nerve conductio... |
OMIM:603516 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Ataxia, Cerebral cortical atrop... |
OMIM:617862 |
Autosomal Spastic Paraplegia Type 58 |
|
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Peripheral demyelination, Frequent falls, Abnorm... |
ORPHA:397946 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Cerebral cortical atrophy, Ataxia, Decreased nerve conduction velocity |
ORPHA:1188 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Incoordination, Abnormal pyramidal sign, Obesity, Ataxia, Unsteady gait, Optic atrophy, Tremor |
OMIM:614947 |
Dystonia, Dopa-Responsive |
|
Incoordination, Dystonia, Resting tremor, Bradykinesia, Cogwheel rigidity, Gait ataxia, Spasticit... |
OMIM:128230 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Hemiplegia, Hemiparesis, Tremor |
OMIM:141500 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Gait disturbance, Tremor |
OMIM:168100 |
Lopes-Maciel-Rodan Syndrome |
|
Ankle clonus, Cerebral atrophy, Cerebellar atrophy, Abnormal pyramidal sign, Dystonia, Caudate at... |
OMIM:617435 |
Spastic Ataxia 2, Autosomal Recessive |
|
Cerebellar atrophy, Dysmetria, Frequent falls, Fasciculations, Gait ataxia, Spasticity, Head titu... |
OMIM:611302 |
Friedreich Ataxia |
|
Impaired visually enhanced vestibulo-ocular reflex, Sensory axonal neuropathy, Dysmetria, Dystoni... |
ORPHA:95 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Enhancement of the C-reflex, Jerk-locked premyoclonus spikes, Myoclonus, Tremor |
OMIM:615127 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Proximal muscle weakness in upper limbs, Atrophy of the spinal cord, Abnormality of peripheral so... |
ORPHA:466768 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Axonal loss, Proximal muscle weakness in upper limbs, Frequent fa... |
ORPHA:101097 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis |
ORPHA:640 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Dystonia, Bradykinesia, Rigidity, Diffuse cerebral atrophy, Babinski sign, Gait disturbance, Post... |
ORPHA:314632 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tetraparesis, Cerebral atrophy, Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Neuronal l... |
OMIM:615924 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Hammertoe |
OMIM:613287 |
Cednik Syndrome |
|
Diffuse palmoplantar hyperkeratosis, Ataxia, Abnormality of peripheral nerve conduction, Optic at... |
ORPHA:66631 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Abnormal motor nerve conduction velocity, Camptodactyly of finger, Failure to thrive, Tongue fasc... |
OMIM:614399 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Myoclonic spasms, Ataxia, EEG with gen... |
ORPHA:79263 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Dystonia, Global brain atrophy, Optic neuropathy, Axonal degeneration, Delaye... |
OMIM:616811 |
Metachromatic Leukodystrophy |
|
Dystonia, Peripheral demyelination, Spastic tetraplegia, Ataxia, Decreased nerve conduction veloc... |
OMIM:250100 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Cerebral atrophy, Cerebellar atrophy, Abnormal pyramidal sign, Infertility, Abnormal sperm morpho... |
ORPHA:320391 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Peripheral axonal neuropathy, Ataxia, Tremor |
OMIM:619099 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Hand tremor, Intrinsic hand muscle atrophy, Optic neuropathy, Spastic paraparesis, Hand muscle we... |
ORPHA:101076 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Delayed CNS myelination, Cerebral cortical atrophy, Spasticity, Optic atrophy, Tremor |
OMIM:300983 |
Parkinson Disease 19A, Juvenile-Onset |
|
Abnormal pyramidal sign, Parkinsonism, Dystonia, Shuffling gait, Bradykinesia, Rigidity, Spastici... |
OMIM:615528 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Myoclonic spasms, Global brain atrophy, Optic neuropathy, Axonal degeneration, Abnormal autonomic... |
ORPHA:478029 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor |
OMIM:618425 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 |
|
Babinski sign, Decreased motor nerve conduction velocity, Split hand, Hammertoe |
OMIM:605726 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Weakness of the intrinsic hand muscles, Distal upper limb muscle weakness, Weak grip, Distal uppe... |
OMIM:619519 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Dystonia, Neurodegeneration, Spastic tetraplegia, Spastic paraparesis, Bradykinesia, Tip-toe gait... |
OMIM:615643 |
Primary Dystonia, Dyt13 Type |
|
Torsion dystonia, Action tremor, Dystonia, Generalized dystonia, Focal dystonia, Motor stereotypy... |
ORPHA:98807 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Dysmetria, Inability to walk, Rigidity, Gait disturbance, Tremor |
OMIM:618090 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
2-3 toe syndactyly, Tapered finger, Onion bulb formation, Decreased sensory nerve conduction velo... |
OMIM:218000 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, ... |
OMIM:300894 |
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia |
|
Peripheral axonal degeneration, Orthostatic hypotension, Axonal degeneration, Decreased number of... |
OMIM:608720 |
Adrenomyeloneuropathy |
|
Peripheral axonal degeneration, Cerebral dysmyelination, Atrophy of the spinal cord, Spastic gait... |
ORPHA:139399 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia |
OMIM:616291 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Hypergonadotropic hypogonadism, Spasticity, Ataxia, Tremor |
OMIM:614307 |
Spinocerebellar Ataxia Type 40 |
|
Dysmetria, Intention tremor, Pontocerebellar atrophy, Spastic paraparesis, Unsteady gait, Gait at... |
ORPHA:423275 |
Yuan-Harel-Lupski Syndrome |
|
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Unsteady gait, Gait ata... |
OMIM:616652 |
Developmental And Epileptic Encephalopathy 16 |
|
Cerebral atrophy, Dystonia, Hemiparesis, Delayed myelination, Abnormality of extrapyramidal motor... |
OMIM:615338 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Hand tremor, Sensory axonal neuropathy, Akinesia, Gait ataxia, Limb ataxia, G... |
ORPHA:98764 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Dysmetria, Dystonia, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Gai... |
OMIM:617145 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebral atrophy, Cerebellar atrophy, Abnormal pyramidal sign, Spastic tetraplegia, Ataxia, Decre... |
OMIM:256600 |
De Sanctis-Cacchione Syndrome |
|
Cerebral atrophy, Choreoathetosis, Global brain atrophy, Bilateral coxa valga, Gonadal hypoplasia... |
OMIM:278800 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor |
ORPHA:401901 |
Spinocerebellar Ataxia 40 |
|
Dysmetria, Intention tremor, Pontocerebellar atrophy, Spastic paraparesis, Unsteady gait, Dysdiad... |
OMIM:616053 |
Primary Dystonia, Dyt27 Type |
|
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... |
ORPHA:464440 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Weakness of the intrinsic hand muscles, Frequent falls, Parkinsonism, Intrinsic hand muscle atrop... |
ORPHA:329478 |
Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Hypogonadism, Tremor |
OMIM:312910 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic gait, Dystonia, Spastic dysarthria, Tremor, Spastic paraplegia, Lower limb sp... |
ORPHA:251282 |
Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral axonal neuropathy, Peripheral dysmyelination, Decreased nerve conduction velocity |
ORPHA:101082 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Dystonia, Spastic te... |
OMIM:612319 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Dysmetria, Intention tremor, Hypospadias, Ataxia, Leukodystrophy, Delayed CNS myelination, Head t... |
OMIM:618688 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Ankle clonus, Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, EEG abnormality, Cr... |
ORPHA:565624 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Action tremor, Ataxia, Intention tremor |
OMIM:302500 |
Glut1 Deficiency Syndrome 2 |
|
Cerebral atrophy, EEG abnormality, Dystonia, Choreoathetosis, Ataxia, Tremor |
OMIM:612126 |
Pelizaeus-Merzbacher Disease |
|
Dystonia, Cerebellar vermis atrophy, Global brain atrophy, Spastic paraplegia, Tremor, Cerebral d... |
OMIM:312080 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Frequent falls, Dystonia, Decerebrate rigidity, Decreased nerve conduction velocity, Gait ataxia,... |
ORPHA:309256 |
Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Dysmetria, Action tremor, Parkinsonism, Axial dystonia, Head tremor, Progress... |
OMIM:604326 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Spastic paraplegia, Failure to thrive, Abnormal CNS myelination, Babinski sign, Difficulty walkin... |
ORPHA:477673 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Truncal ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:616127 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Dystonia, Oculogyric crisis, Inability to walk, Diffuse cerebral atrophy, Del... |
ORPHA:330050 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Cerebral atrophy, Involuntary movements, Limb hypertonia, Ataxia, Hypsarrhythmia, Unsteady gait, ... |
ORPHA:442835 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Cerebellar atrophy, Abnormal pyramidal sign, Parkinsonism, Resting tremor, Spastic tetraplegia, B... |
OMIM:617225 |
Developmental And Epileptic Encephalopathy 32 |
|
Ataxia, Myoclonus, Tremor |
OMIM:616366 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Cerebral cortical hemiatrophy, Dystonia, Bradykinesia, Hemiparesis, Difficulty walk... |
ORPHA:306669 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Peripheral axonal neuropathy, Abnormality of the hand, Tremor |
OMIM:616668 |
Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Brachial plexus neuropathy, Axonal degeneration |
OMIM:162100 |
Cerebrotendinous Xanthomatosis |
|
Dystonia, Global brain atrophy, Abnormality of the hand, Paraparesis, CNS demyelination, Abnormal... |
ORPHA:909 |
Neuroectodermal Melanolysosomal Disease |
|
Hypertonia, Cerebral cortical hemiatrophy, Ataxia, Rigidity, Cerebral cortical atrophy, Spasticit... |
ORPHA:33445 |
Atypical Juvenile Parkinsonism |
|
Abnormal pyramidal sign, Short stepped shuffling gait, Dystonia, Shuffling gait, Resting tremor, ... |
ORPHA:391411 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Abnormal myelination, Cerebellar atrophy, Inability to walk, Optic atrophy |
OMIM:618324 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Dysmetria, Dystonia, Parkinsonism, Ataxia, Gait ataxia, Chorea, Cachexia, Bab... |
OMIM:618093 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Frequent falls, Fasciculations, Degeneration of anterior horn cells, Tongue fasciculations, Facia... |
OMIM:159950 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Frequent falls, Intention tremor, Spastic dysarthria, Unsteady gait, Nonprogressiv... |
ORPHA:314978 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Cerebellar atrophy, Frequent falls, Ataxia, Gait ataxia, Spasticity, Talipes equinovarus, Tremor |
OMIM:616719 |
Cln5 Disease |
|
EEG with generalized slow activity, Cerebellar atrophy, Dysmetria, Atrophy/Degeneration affecting... |
ORPHA:228360 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Spastic tetraparesis, Elbow flexion contracture, Optic atrophy, Broad-based gait, Tremor |
OMIM:619470 |
X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Dysmetria, Action tremor, Calcaneovalgus deformity, Hyporeflexia of upper lim... |
ORPHA:93952 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Action tremor, Dystonia, Parkinsonism, Autonomic bladder dysfunction, Ap... |
ORPHA:97355 |
Spinocerebellar Ataxia Type 14 |
|
Cerebellar vermis atrophy, Gait ataxia, Progressive cerebellar ataxia, Rigidity, Limb ataxia, Myo... |
ORPHA:98763 |
Neuronopathy, Distal Hereditary Motor, Type Vb |
|
Decreased motor nerve conduction velocity |
OMIM:614751 |
Infantile Neuroaxonal Dystrophy |
|
Diffuse axonal swelling, Cerebellar atrophy, Dystonia, Spastic tetraparesis, Abnormal pyramidal s... |
ORPHA:35069 |
Folinic Acid-Responsive Seizures |
|
EEG with generalized slow activity, Cerebellar atrophy, Spastic tetraparesis, Dystonia, Ataxia, H... |
ORPHA:79097 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Cerebral atrophy, Cerebellar atrophy, Hypertonia, Dysmyelinating leukodystrophy, Tremor, Unsteady... |
ORPHA:137898 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... |
ORPHA:67044 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic gait, Lower limb spasticity, Spastic paraplegia, Degeneration of the lateral corticospina... |
OMIM:600363 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Dysmetria, EEG abnormality, Apraxia, Inability to walk, Gait ataxia, Spastici... |
OMIM:617810 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Prolonged somatosensory evoked potentials, Writer's cramp, Myoclonus, Tremor |
OMIM:608105 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Delayed myelination |
OMIM:618339 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Frequent falls, Dystonia, Intention tremor, Decreased nerve conduction velocity, Leukodystrophy, ... |
ORPHA:309263 |
Wild Type Abeta2M Amyloidosis |
|
Axonal loss, Tetraparesis, Decreased amplitude of sensory action potentials, Abnormality of the t... |
ORPHA:85446 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Abnormality of somatosensory evoked potentials, Spastic tetraparesis, Abnormal pyramidal sign, Dy... |
ORPHA:280219 |
Acromicric Dysplasia |
|
Brachydactyly, Short palm, Short metacarpal, Fifth metacarpal with ulnar notch, Decreased nerve c... |
ORPHA:969 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Splenomegaly, Increased mean platelet volume, Stomatocytosis |
OMIM:153670 |
Corticobasal Syndrome |
|
Parkinsonism, Dystonia, Involuntary movements, Bradykinesia, Akinesia, Limb dystonia, Limb apraxi... |
ORPHA:454887 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased numbe... |
OMIM:201300 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Abnormal pyramidal sign, Ataxia, Spasticity, Clumsiness, Abnormality of extrapyramidal motor func... |
ORPHA:79262 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
EEG with generalized slow activity, Spastic gait, Dystonia, Resting tremor, Shuffling gait, Parki... |
OMIM:300055 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity |
OMIM:605589 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Choreoathetosis, Decreased nerve conduction velocity, Limb dystonia, Failure to thrive, Lower lim... |
ORPHA:319514 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Dystonia, Myoclonus, Tremor |
OMIM:611092 |
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language |
|
Cerebral atrophy, Cerebellar atrophy, Dystonia, Involuntary movements, Inability to walk, Ataxia,... |
OMIM:617804 |
Macular Degeneration, Age-Related, 3 |
|
Peripheral axonal neuropathy, Decreased nerve conduction velocity |
OMIM:608895 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Ataxia, Impaired tandem gait, Myoclonus, Tr... |
OMIM:619028 |
Spinocerebellar Ataxia 7 |
|
Dysmetria, Progressive cerebellar ataxia, Spasticity, Chorea, Babinski sign, Abnormality of extra... |
OMIM:164500 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Vestibular areflexia, Dysmetria, Intention tremor, Demyelinating peripheral neuropathy, Gait atax... |
ORPHA:504476 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Dysmetria, Ataxia, Unsteady gait, Gait ataxia, Spasticity, Limb ataxia, Tremor |
OMIM:213200 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Dysmetria, Dystonia, CNS hypomyelination, Abnormal pyramidal sign, Intention ... |
OMIM:614381 |
Jaberi-Elahi Syndrome |
|
Cerebellar atrophy, Dysmetria, Dystonia, Choreoathetosis, Inability to walk, Gait ataxia, Failure... |
OMIM:617988 |
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers |
|
Cerebral atrophy, Cerebellar atrophy, CNS hypomyelination, Decreased motor nerve conduction veloc... |
OMIM:601170 |
Atypical Rett Syndrome |
|
EEG abnormality, Dystonia, Pill-rolling tremor, Apraxia, Loss of ability to walk, Involuntary mov... |
ORPHA:3095 |
Proximal Myopathy With Extrapyramidal Signs |
|
Dystonia, Resting tremor, Involuntary movements, Ataxia, Peripheral axonal neuropathy, Progressiv... |
ORPHA:401768 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Failure to thrive, Ataxia, Tremor |
OMIM:618951 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Dysmetria, Short palm, Global brain atrophy, Small hand, Dysdiadochokinesis, ... |
OMIM:610185 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Hypertrophic nerve changes, Decreased motor nerve conduction velocity |
DECIPHER:29 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Eyelid myoclonus, Abnormal lower motor neuron morphology, Frequent falls, Inability to walk, Limb... |
ORPHA:2590 |
Developmental And Epileptic Encephalopathy 17 |
|
Cerebral atrophy, Dystonia, Athetosis, Chorea, Delayed myelination, Hypsarrhythmia |
OMIM:615473 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Abnormal pyramidal sign, Dystonia, Talipes cavus equinovarus, Progressive cer... |
ORPHA:139485 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia |
OMIM:616176 |
Dystonia 27 |
|
Action tremor, Laryngeal dystonia, Postural tremor, Writer's cramp, Oromandibular dystonia |
OMIM:616411 |
4H Leukodystrophy |
|
Cerebellar atrophy, Dysmetria, Dystonia, Dysdiadochokinesis, Hypogonadotropic hypogonadism, Ataxi... |
ORPHA:289494 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, Blephar... |
OMIM:607876 |
Dystonia 3, Torsion, X-Linked |
|
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... |
OMIM:314250 |
Metachromatic Leukodystrophy, Adult Form |
|
Frequent falls, Dystonia, Intention tremor, Decreased nerve conduction velocity, Leukodystrophy, ... |
ORPHA:309271 |
Pelger-Huet Anomaly |
|
Giant platelets, Abnormality of neutrophils, Neutropenia, Hyposegmentation of neutrophil nuclei, ... |
OMIM:169400 |
Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Ataxia, Small for gestational age, Tremor |
OMIM:278780 |
Myopathy, Spheroid Body |
|
Waddling gait, Broad-based gait, Tremor |
OMIM:182920 |
Hsd10 Disease |
|
Choreoathetosis, Spastic paraparesis, Ataxia, Rigidity, Gait disturbance, Frontotemporal cerebral... |
ORPHA:391417 |
Dystonia 12 |
|
Parkinsonism, Dystonia, Bradykinesia, Unsteady gait, Torticollis, Tremor |
OMIM:128235 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Dysmetria, Dystonia, CNS hypomyelination, Hypogonadotropic hypogonadism, Atax... |
OMIM:607694 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis, Spastic paraplegia, Abnormality of peripheral nerve conduction |
ORPHA:101005 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Small for gestational age, Bradykinesia, Ata... |
OMIM:261640 |
Primary Dystonia, Dyt2 Type |
|
Torsion dystonia, Generalized dystonia, Blepharospasm, Involuntary movements, Limb dystonia, Tort... |
ORPHA:99657 |
Inherited Creutzfeldt-Jakob Disease |
|
Global brain atrophy, Progressive cerebellar ataxia, Tremor, Central nervous system degeneration,... |
ORPHA:282166 |
Multifocal Motor Neuropathy |
|
Fasciculations, Limited wrist extension, Weakness of long finger extensor muscles, Motor conducti... |
ORPHA:641 |
Partial Chromosome Y Deletion |
|
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... |
ORPHA:1646 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Abnormal pyramidal sign, Cerebellar atrophy, Ataxia, Myoclonus, Tremor |
OMIM:612016 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
EEG with spike-wave complexes, Gait ataxia, Chorea, EEG with polyspike wave complexes, Truncal at... |
OMIM:618587 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, ... |
ORPHA:329284 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Cerebral atrophy, Hypertonia, Hemiballismus, Dystonia, Parkinsonism, Choreoathetosis, Inability t... |
OMIM:618877 |
Parkinson Disease 14, Autosomal Recessive |
|
Parkinsonism, Dystonia, Global brain atrophy, Apraxia, Bradykinesia, Rigidity, Spasticity, Clumsi... |
OMIM:612953 |
Multiple System Atrophy |
|
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Resting tremor, Female anorgasmia, Axial d... |
ORPHA:102 |
Riboflavin Transporter Deficiency |
|
Abnormal cranial nerve morphology, Hypogonadism, Ataxia, Abnormal autonomic nervous system physio... |
ORPHA:97229 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Failure to thrive, Dystonia, Myoclonus, Tremor |
OMIM:619651 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Cerebellar atrophy, Dysmetria, Oculomotor apraxia, Progressive cerebellar ataxia, Progressive gai... |
ORPHA:284324 |
Autosomal Dominant Cerebellar Ataxia |
|
Action tremor, Dystonia, Progressive cerebellar ataxia, Paraparesis, CNS demyelination, Abnormali... |
ORPHA:99 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Orthostatic hypotension, Peripheral demyelination, Abnormal autonomic nervous system physiology, ... |
OMIM:252320 |
Spastic Paraplegia 79, Autosomal Recessive |
|
Tetraparesis, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Neurodegeneration, Intention tremo... |
OMIM:615491 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Sialidosis Type 1 |
|
EEG abnormality, Ataxia, Decreased nerve conduction velocity, Myoclonus, Gait disturbance, Slurre... |
ORPHA:812 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Parkinsonism, Resting tremor, Bradykinesia, Craniofacial dystonia, Limb dysto... |
ORPHA:71517 |
Mohr-Tranebjaerg Syndrome |
|
Abnormality of somatosensory evoked potentials, Ankle clonus, Abnormal pyramidal sign, Dystonia, ... |
ORPHA:52368 |
Autosomal Dominant Spastic Paraplegia Type 9B |
|
Atrophy of the spinal cord, Spastic gait, Focal dystonia, Spastic dysarthria, Upper motor neuron ... |
ORPHA:447757 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Parkinsonism, Resting tremor, Shuffling gait, Obesity, Lower limb spasticity, Focal EEG discharge... |
ORPHA:3077 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Clinodactyly, Dystonia, Single transverse palmar crease, Tapered finger, Unsteady gait, Gait atax... |
OMIM:617807 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Cerebellar atrophy, Abnormal pyramidal sign, Dystonia, Chronic axonal neuropathy, Pontocerebellar... |
OMIM:606002 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Inability to walk, Ataxia, Gait ataxia, D... |
OMIM:614831 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Vocal cord paresis, Decreased nerve conduction velocity, Unsteady gait, Distal upper limb amyotro... |
ORPHA:600 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Ataxia, Cachexia |
ORPHA:1933 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
EEG abnormality, Dystonia, Bradykinesia, Ataxia, Rigidity, Tremor |
OMIM:617836 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Abnormal pyramidal sign, Spastic paraparesis, Poor coordination, Decreased nerve conduction veloc... |
OMIM:238970 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Abnormal pyramidal sign, Frequent falls, Focal dystonia, Apraxia, Involuntary movements, Bradykin... |
ORPHA:240103 |
Spinocerebellar Ataxia 1 |
|
Dysmetria, Decreased amplitude of sensory action potentials, Fasciculations, Spinocerebellar atro... |
OMIM:164400 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Cerebral dysmyelination, Cerebral atrophy, Peripheral demyelination, Spastic tetraplegia, Cryptor... |
OMIM:609136 |
Epilepsy, Progressive Myoclonic, 6 |
|
Difficulty walking, Ataxia, Myoclonus, Tremor |
OMIM:614018 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Tremor |
OMIM:264070 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cerebral atrophy, Cerebellar atrophy, Action tremor, Sensory axonal neuropathy, Shuffling gait, B... |
ORPHA:254886 |
Hypermanganesemia With Dystonia 2 |
|
Ankle clonus, Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Opisthotonus, General... |
OMIM:617013 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Peripheral demyelination, Ataxia, Decreased sensory nerve conduction velocity, Flexion contractur... |
OMIM:609033 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Parkinsonism, Dystonia, Shuffling gait, Oculogyric crisis, Abnormal autonomic ner... |
OMIM:618049 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Dysmetria, Hypertonia, Intention tremor, Tapered finger, Ataxia, Steppage gai... |
OMIM:616505 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypogonadotropic hypogonadism, Decreased number of large peripheral myelinated nerve fibers, Demy... |
ORPHA:298 |
Charcot-Marie-Tooth Disease Type 1E |
|
Hand muscle atrophy, Hyporeflexia of upper limbs, Hammertoe, Inability to walk, Hand muscle weakn... |
ORPHA:90658 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Ataxia, Unsteady gait, Titubation, Tremor |
OMIM:619405 |
Spinocerebellar Ataxia 34 |
|
Cerebellar atrophy, Abnormal pyramidal sign, Intention tremor, Fasciculations, Ataxia, Gait ataxi... |
OMIM:133190 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Dystonia, Myoclonus, Tremor |
OMIM:619647 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block |
DECIPHER:31 |
Multiple System Atrophy, Cerebellar Type |
|
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Resting tremor, Female anorgasmia, Axial d... |
ORPHA:227510 |
Charcot-Marie-Tooth Disease Type 4C |
|
Cerebellar atrophy, Frequent falls, Hammertoe, Vocal cord paresis, Head tremor, Inability to walk... |
ORPHA:99949 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Parkinsonism, Dystonia, Choreoathetosis, Blepharospasm, Bradykinesia, Ataxia, Laryngeal dystonia,... |
OMIM:606159 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Gait ataxia, EEG abnormality, Ataxia, Tremor |
OMIM:617831 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Cerebral atrophy, Ataxia, Tremor |
OMIM:618637 |
Urocanic Aciduria |
|
Action tremor, Ataxia, Gait ataxia, Truncal ataxia, Broad-based gait |
ORPHA:210128 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Hand tremor, Dystonia, Frequent falls, Shuffling gait, Parkinsonism, Spastic paraparesis, Bradyki... |
ORPHA:289560 |
Multiple System Atrophy, Parkinsonian Type |
|
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Resting tremor, Female anorgasmia, Axial d... |
ORPHA:98933 |
Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Ataxia, Tremor |
OMIM:616421 |
Hereditary Methemoglobinemia |
|
Cerebellar atrophy, Small for gestational age, Spastic tetraplegia, Global brain atrophy, Athetos... |
ORPHA:621 |
Spinocerebellar Ataxia 42 |
|
Cerebellar atrophy, Spastic gait, Abnormal pyramidal sign, Ataxia, Unsteady gait, Babinski sign, ... |
OMIM:616795 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume |
OMIM:617718 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Clinodactyly, Hypertonia, Syndactyly, Ataxia, Gait ataxia, Arachnodactyly, Brain atrophy, Myoclon... |
OMIM:619092 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Abnormal lower motor neuron morphology, Dystonia, Parkinsonism, Neurodegenera... |
OMIM:614298 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Camptodactyly of finger, Abnormal nerve conduction velocity |
ORPHA:2926 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Dysmetria, EEG abnormality, Gait ataxia, Spasticity, Oculomotor apraxia, Diff... |
ORPHA:529665 |
Dopa-Responsive Dystonia |
|
Parkinsonism, Dystonia, Generalized dystonia, Oculogyric crisis, Inability to walk, Leg dystonia,... |
ORPHA:255 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Abnormal pyramidal sign, Parkinsonism, Dystonia, Dysdiadochokinesis, Bradykinesia, Athetosis, Rig... |
OMIM:213600 |
Parkinsonism With Spasticity, X-Linked |
|
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign |
OMIM:300911 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Myoclonus, Tremor |
OMIM:159900 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Freezing of gait, Abnormal pyramidal sign, Parkinsonism, Focal dystonia, Blepharospasm, Extrapyra... |
ORPHA:99750 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Inability to walk, Lower limb spasticity, Ataxia, Failure to thrive, Dystonic gait, Cerebral hypo... |
ORPHA:280210 |
Developmental And Epileptic Encephalopathy 56 |
|
EEG abnormality, Action tremor, Poor coordination, Ataxia, EEG with polyspike wave complexes, Bro... |
OMIM:617665 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Atrophy of the spinal cord, Action tremor, Orthostatic hypotension, Erectile dysfunction, Impoten... |
ORPHA:99027 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Dystonia, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity... |
ORPHA:240085 |
Parkinson Disease 17 |
|
Parkinsonism, Resting tremor, Bradykinesia, Akinesia, Rigidity, Tremor |
OMIM:614203 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... |
OMIM:300835 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Ataxia, Gait ataxia, Poor motor coordin... |
ORPHA:1170 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Inability to walk, Myelin outfoldings, Hand muscle weakn... |
ORPHA:99956 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Abnormality of somatosensory evoked potentials, EEG with focal epileptiform discharges, Ataxia, S... |
ORPHA:1187 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Action tremor, Dystonia, Hypertonia, Parkinsonism, Global brain atrophy, Atax... |
OMIM:619738 |
X-Linked Dystonia-Parkinsonism |
|
Torsion dystonia, Hand tremor, Frequent falls, Resting tremor, Shuffling gait, Focal dystonia, Pa... |
ORPHA:53351 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Cerebellar atrophy, Inability to walk, Athetosis, Rigidity, Gait disturbance, Delayed myelination... |
OMIM:618241 |
Ring Chromosome Y Syndrome |
|
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:261529 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Parkinsonism, Abnormal cranial nerve morphology, Resting tremor, Shuffling gait, Intention tremor... |
ORPHA:247234 |
Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Action tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Postural tremor |
OMIM:606658 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Vocal cord paresis, Steppage gait, Axonal degeneration/regeneration, Decreased motor nerve conduc... |
OMIM:601152 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Cerebral atrophy, Dystonia, Choreoathetosis, Clinodactyly of the 5th finger, Ataxia, Optic atroph... |
OMIM:619422 |
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Axonal loss, Orthostatic hypotension, Parkinsonism, Degeneration of anterior horn cells, Decrease... |
OMIM:118301 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Cerebellar atrophy, Action tremor, Intention tremor, Gait ataxia, Postural tremor, Myoclonus |
OMIM:254900 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Failure to thrive in infancy, Axial dystonia, Spastic paraplegia, Decreased sensory nerve conduct... |
OMIM:619026 |
Neuromuscular Oculoauditory Syndrome |
|
Sensory axonal neuropathy, Decreased amplitude of sensory action potentials, Decreased nerve cond... |
OMIM:618733 |
Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Dysmetria, Action tremor, Resting tremor, Parkinsonism, Intention tremor, Bra... |
OMIM:300623 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Myoclonic spasms, Abnormal autonomic nervous system physiology, Rigidity, Clonus, Neuronal loss i... |
OMIM:614498 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Abnormal CNS myelination, Optic ... |
OMIM:610651 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Cerebellar atrophy, Focal dystonia, Axial dystonia, Head tremor, Craniofacial dystonia, Unsteady ... |
ORPHA:420492 |
Spinocerebellar Ataxia Type 21 |
|
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Progressive cerebellar ataxia, Rigidity, Abnorm... |
ORPHA:98773 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
EEG abnormality, Inability to walk, Spasticity, Brain atrophy, Tremor |
OMIM:618718 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Choreoathetosis, Tremor, Myoclonus, Hypertonia |
OMIM:261630 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Spastic paraparesis, Bradykinesia, Cogwheel rigidity, Diffuse cerebral atrophy, S... |
ORPHA:363654 |
Warburg Micro Syndrome 4 |
|
Cerebellar atrophy, Small scrotum, Spastic tetraplegia, Cryptorchidism, Micropenis, Inability to ... |
OMIM:615663 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Hypertonia, Inability to walk, Ataxia, Failure to thrive, Delayed CNS myelination, Tremor |
OMIM:619556 |
Developmental And Epileptic Encephalopathy 51 |
|
Cerebellar atrophy, Abnormal pyramidal sign, Dystonia, Inability to walk, Failure to thrive, Dela... |
OMIM:617339 |
Allan-Herndon-Dudley Syndrome |
|
Abnormal pyramidal sign, Dystonia, Choreoathetosis, Small for gestational age, Failure to thrive ... |
ORPHA:59 |
Developmental And Epileptic Encephalopathy 44 |
|
Cerebral atrophy, Cerebellar atrophy, Dystonia, Athetosis, Failure to thrive, Spasticity, Delayed... |
OMIM:617132 |
Bernard-Soulier Syndrome |
|
Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet ag... |
ORPHA:274 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Abnormality of the autonomic nervous system, Decreased amplitude of sensory action potentials, In... |
ORPHA:36386 |
Infantile Krabbe Disease |
|
Opisthotonus, Spastic diplegia, Lower limb spasticity, Decreased nerve conduction velocity, Failu... |
ORPHA:206436 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Cerebral atrophy, Enlargement of the wrists, Metaphyseal chondrodysplasia, Tip-toe gait, Spastic ... |
ORPHA:83629 |
Hurler-Scheie Syndrome |
|
Abnormal pyramidal sign, Abnormal nerve conduction velocity |
ORPHA:93476 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor |
OMIM:610297 |
Lissencephaly 8 |
|
Abnormal myelination, Talipes equinovarus, Spasticity, Optic atrophy |
OMIM:617255 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Abnormal pyramidal sign, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Bradykinesia, Tre... |
OMIM:613135 |
Xeroderma Pigmentosum, Complementation Group F |
|
Decreased body weight, Brain atrophy, Ataxia, Tremor |
OMIM:278760 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
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Parkinsonism, Dystonia, Resting tremor, Intention tremor, Bradykinesia, Ataxia, Cogwheel rigidity... |
OMIM:619725 |
Autosomal Recessive Spastic Paraplegia Type 55 |
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Optic neuropathy, Spastic paraparesis, Onion bulb formation, Lower limb spasticity, Decreased sen... |
ORPHA:320375 |
Peroxisome Biogenesis Disorder 5B |
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Cerebellar atrophy, Dysmetria, Ataxia, Unsteady gait, Oculomotor apraxia, Tremor |
OMIM:614867 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
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Ulnar deviation of the 2nd finger, Dysmetria, EEG abnormality, Shawl scrotum, Ataxia, Decreased s... |
ORPHA:456312 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
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2-3 toe syndactyly, Failure to thrive in infancy, Sandal gap, Decreased nerve conduction velocity... |
ORPHA:477817 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
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Small for gestational age, Stereotypical hand wringing, EEG with multifocal slow activity, Diffus... |
ORPHA:289266 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
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Abnormal pyramidal sign, Spastic tetraplegia, Cryptorchidism, Decreased motor nerve conduction ve... |
OMIM:615419 |
Parkinson Disease, Late-Onset |
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Parkinsonism, Short stepped shuffling gait, Resting tremor, Dystonia, Bradykinesia, Abnormal auto... |
OMIM:168600 |
Spinocerebellar Ataxia, X-Linked 4 |
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Abnormal pyramidal sign, Ataxia, Tremor |
OMIM:301840 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
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Dystonia, Choreoathetosis, Ataxia, Spasticity, Oculomotor apraxia, Tremor |
OMIM:612716 |
Amyloidosis, Hereditary, Transthyretin-Related |
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Abnormal autonomic nervous system physiology, Ataxia, Peripheral axonal neuropathy, Impotence, Sp... |
OMIM:105210 |
Dentatorubral Pallidoluysian Atrophy |
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Dysmetria, Action tremor, Choreoathetosis, Blepharospasm, Optic neuropathy, Involuntary movements... |
ORPHA:101 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
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Decreased nerve conduction velocity, Tremor |
ORPHA:397744 |
Familial Dyskinesia And Facial Myokymia |
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Dystonia, Resting tremor, Limb hypertonia, Chorea, Difficulty walking, Myoclonus |
ORPHA:324588 |
Kufor-Rakeb Syndrome |
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Hypertonia, Parkinsonism, Dystonia, Bradykinesia, Spastic paraplegia, Akinesia, Ataxia, Parapares... |
OMIM:606693 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
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Tetraparesis, Abnormal pyramidal sign, Action tremor, Opisthotonus, Dystonia, Frequent falls, Ina... |
OMIM:607483 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
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Spastic tetraparesis, Hypertonia, Dystonia, Dysdiadochokinesis, Shuffling gait, Oculogyric crisis... |
ORPHA:352649 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Tetraparesis, Cerebral atrophy, Abnormal pyramidal sign, Caudate atrophy, Ataxia, Limb dystonia, ... |
ORPHA:363400 |
Metachromatic Leukodystrophy |
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Incoordination, Frequent falls, Dystonia, Decerebrate rigidity, Ataxia, Tip-toe gait, Decreased n... |
ORPHA:512 |
Urocanase Deficiency |
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Ataxia, Tremor |
OMIM:276880 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
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Abnormal myelination, Cerebral atrophy, Brain atrophy |
ORPHA:85179 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
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Brachydactyly, Cerebellar vermis atrophy, Cryptorchidism, Sandal gap, Micropenis, Decreased testi... |
OMIM:300354 |
Trichohepatoenteric Syndrome 1 |
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Thrombocytosis, Hypermethioninemia, Abnormality of iron homeostasis, Hypoalbuminemia, Increased s... |
OMIM:222470 |
Galactosemia |
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Decreased fertility, Action tremor, Dystonia, Primary amenorrhea, Cryptorchidism, Ataxia, Speech ... |
ORPHA:352 |
Takenouchi-Kosaki Syndrome |
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Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
Gerstmann-Straussler Disease |
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Cerebellar atrophy, Parkinsonism, Apraxia, Bradykinesia, Gait ataxia, Truncal ataxia, Rigidity, S... |
OMIM:137440 |
Generalized Epilepsy With Febrile Seizures-Plus |
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Incoordination, Generalized cerebral atrophy/hypoplasia, Bradykinesia, Ataxia, EEG with spike-wav... |
ORPHA:36387 |
Cockayne Syndrome Type 1 |
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Cryptorchidism, Lower limb spasticity, Ataxia, Failure to thrive, Male hypogonadism, Gait disturb... |
ORPHA:90321 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
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Ataxia, Poor coordination, Recurrent hand flapping, Gait disturbance, Postaxial polydactyly, Hypo... |
ORPHA:544254 |
D-Glyceric Aciduria |
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Opisthotonus, Spastic tetraplegia, Failure to thrive, Cerebral cortical atrophy, Delayed myelinat... |
OMIM:220120 |
Lathosterolosis |
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Schistocytosis, Hepatosplenomegaly, Acanthocytosis, Hyperbilirubinemia, Anisopoikilocytosis, Abno... |
OMIM:607330 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
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Single transverse palmar crease, Motor stereotypy, Micropenis, Decreased testicular size, Overwei... |
ORPHA:457240 |
Intellectual Developmental Disorder, X-Linked 12 |
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Small for gestational age, Cryptorchidism, Truncal obesity, Spasticity, Increased body mass index... |
OMIM:300957 |
Developmental And Epileptic Encephalopathy 4 |
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Cerebral atrophy, Spastic tetraplegia, Spastic paraplegia, Hypsarrhythmia, EEG with burst suppres... |
OMIM:612164 |
Thrombocytopenia 1 |
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Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume |
OMIM:313900 |
Friedreich Ataxia |
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Decreased amplitude of sensory action potentials, Ataxia, Decreased sensory nerve conduction velo... |
OMIM:229300 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Delayed myelination, CNS hypomyelination, Exaggerated startle response |
OMIM:618367 |
Microcephaly 10, Primary, Autosomal Recessive |
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Cerebral atrophy, Cerebellar atrophy, CNS hypomyelination, Small for gestational age, Spasticity,... |
OMIM:615095 |
Congenital Disorder Of Glycosylation, Type Ie |
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EEG abnormality, Short palm, Pontocerebellar atrophy, Upper limb undergrowth, Ataxia, Failure to ... |
OMIM:608799 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
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Cryptorchidism, Tremor, Cerebral cortical atrophy, Gait disturbance, Hypertonia |
ORPHA:1192 |
Developmental And Epileptic Encephalopathy 64 |
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