Guillain-Barre Syndrome, Familial |
|
Acute demyelinating polyneuropathy |
OMIM:139393 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:214400 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:302800 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration, H... |
OMIM:614436 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Inability to walk, Spastic paraplegia, Optic atrophy, Babinski sign, Abnormal myelination, Spasti... |
ORPHA:431329 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy |
OMIM:311050 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Axonal loss, Gait... |
OMIM:611228 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased motor nerve conduction velocity, Hand muscle atrophy, Decreased number of peripheral my... |
ORPHA:98856 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Decreased nerve conduction velocity, Areflexia of upper limbs, Decr... |
ORPHA:90103 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Symme... |
ORPHA:206594 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... |
OMIM:601596 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13 |
|
Thenar muscle atrophy, Decreased compound muscle action potential amplitude, Babinski sign, Diffi... |
OMIM:619112 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118210 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Hand muscle weakness, Decreased nerve conduction velocity, Segmental peripheral demyelination/rem... |
ORPHA:2932 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Abnormal myelination, Spastic gait, Progressiv... |
ORPHA:401840 |
Episodic Ataxia, Type 1 |
|
Incoordination, Abnormality of the hand, Tremor, Babinski sign, Slurred speech, Episodic ataxia, ... |
OMIM:160120 |
Leukodystrophy, Hypomyelinating, 18 |
|
Cerebellar atrophy, Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity... |
OMIM:618404 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:180800 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:615490 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Decreased motor nerve conduction velocity, Claw hand deformity, Upper limb amyotrophy, Steppage g... |
OMIM:606595 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Null Syndrome |
|
Ataxia, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Inability to wa... |
ORPHA:280234 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypergonadotropic hypo... |
OMIM:604168 |
Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased motor nerve conduction velocity, Waddling gait, Small hypothenar eminence, Decreased nu... |
OMIM:609311 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Hand muscle weakness, Tr... |
ORPHA:101077 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... |
OMIM:601098 |
Hereditary Motor And Sensory Neuropathy V |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Babinski sign, Abnormal ... |
OMIM:600361 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Tremor, Distal upper limb amyotrophy, Gait disturbance, Abnormal nerve conduction velocity |
ORPHA:101075 |
Autosomal Recessive Spastic Paraplegia Type 21 |
|
Abnormal pyramidal sign, Frontotemporal cerebral atrophy, Gait disturbance, Abnormality of extrap... |
ORPHA:101001 |
Monomelic Amyotrophy |
|
Tremor, Degeneration of anterior horn cells, Distal upper limb amyotrophy, Abnormality of the upp... |
ORPHA:65684 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Intrinsic hand muscle atrophy... |
ORPHA:276435 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... |
OMIM:614561 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Tetraplegia, Hand tr... |
OMIM:604484 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... |
OMIM:602433 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Decreased motor nerve conduction velocity, Hand muscle weakness, Axonal regeneration, Difficulty ... |
OMIM:608323 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Charcot-Marie-Tooth Disease Type 4A |
|
Limited interphalangeal movement, Frequent falls, Hand muscle weakness, Decreased nerve conductio... |
ORPHA:99948 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Hammertoe, Steppage gait... |
OMIM:610100 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Proximal muscle weakness in upper limbs, Hand muscle weakness, De... |
ORPHA:101097 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Babinski sign, Limb tremor, Cerebral cortical atrophy, Difficulty walking,... |
ORPHA:401820 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Decreased num... |
OMIM:607706 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Atrophy... |
OMIM:619862 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Claw hand deformity, Paralysis, Decreased number of la... |
OMIM:605285 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Decreased nerve conduction velocity, Cryptorchidism, Inability to walk, Optic atrophy, Cerebral a... |
ORPHA:457205 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Decreased nerve conduction veloci... |
ORPHA:99939 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia... |
ORPHA:98890 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Thenar muscle atrophy, Decreased nerve conduction velocity, Hand tremor, Steppage gait, Difficult... |
ORPHA:352675 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Decreased compound muscle action potential amplitude, Babinski sign, Hand tremor, Hammertoe, Step... |
OMIM:618279 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Hand muscle atrophy, Postural tremor, Abnormal motor nerve conduction velocity, Hand muscle weakn... |
ORPHA:100998 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Roussy-Lévy Syndrome |
|
Decreased motor nerve conduction velocity, Postural tremor, Unsteady gait, Babinski sign, Intrins... |
ORPHA:3115 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Cerebellar atrophy, Dystonia, Ataxia, Decreased number of large p... |
OMIM:208920 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607734 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:600882 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:614895 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased motor nerve conduction velocity, Hand muscle atrophy, Decreased distal sensory nerve ac... |
OMIM:607684 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased motor nerve conduction velocity, Hammertoe, Steppage gait, Decreased number of large pe... |
OMIM:615376 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal nerve conduction velocity |
ORPHA:99014 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal degeneration, Segmental... |
OMIM:606482 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Difficulty... |
OMIM:613608 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Thenar muscle atrophy, Tremor, Thenar muscle weakness,... |
OMIM:118300 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Hand muscle atrophy, Clonus, Axonal degeneration, Falls, Tongue fasciculations, Failure to thrive |
OMIM:618811 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Resting tremor, Diffuse cerebral atrophy, Rigidity, De... |
OMIM:619279 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:605588 |
Intellectual Developmental Disorder, Autosomal Recessive 4 |
|
Delayed myelination |
OMIM:611107 |
Pelizaeus-Merzbacher disease |
|
Abnormal CNS myelination, Leukodystrophy |
DECIPHER:38 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J |
|
Decreased motor nerve conduction velocity, Hammertoe, Difficulty walking, Thenar muscle atrophy |
OMIM:620111 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Areflexia of upper limbs, Axonal degeneration, Steppage gait, Gait disturbance, Talipes equinovarus |
OMIM:616155 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Abnormal motor nerve conduction velocity, Thenar muscle atrophy, Thenar muscle weakness, Unsteady... |
ORPHA:139536 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118220 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls |
OMIM:615945 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Spasticity |
OMIM:611105 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Decreased nerve conduction velocity, Ataxia, Tremor, Gait disturbance |
ORPHA:101078 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Decreased motor nerve conduction velocity, Triceps weakness, Fasciculations, Difficulty walking, ... |
OMIM:615575 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Proximal muscle weakness in upper limbs, Decreased nerve conduction velocity, Axon... |
OMIM:618138 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Cerebellar vermis atrophy |
OMIM:617018 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Waddling gait, Hammertoe, Compound muscle action potential amplitude facilitation, Decreased comp... |
OMIM:616040 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Charcot-Marie-Tooth Disease Type 4G |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased distal sensory... |
ORPHA:99953 |
Charcot-Marie-Tooth Disease Type 4D |
|
Decreased motor nerve conduction velocity, Postural tremor, Inability to walk, Split hand, Unstea... |
ORPHA:99950 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly, Decreased nerve conduction velocity, Gait disturbance, Brain atrophy, Loss of ambulat... |
OMIM:615284 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118200 |
Spinocerebellar Ataxia 38 |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degene... |
OMIM:615957 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Broad-based gait,... |
ORPHA:435387 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Dystonia, Ataxia, Facial palsy, Demyelinating motor ne... |
OMIM:608804 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Spastic tetraparesis, Decreased nerve conduction velocity, Babinski sign, Gait ataxia, Loss of am... |
OMIM:249900 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:604563 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Postural tremor, Chorea, Atrophy/Degeneration affecting the brainstem, Optic ... |
ORPHA:98755 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,... |
OMIM:601068 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... |
OMIM:608673 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity, Peripheral demyelination, Gait disturbance, Hand muscle atrophy |
ORPHA:99944 |
Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity, Hypertonia, Ataxia, Tremor |
ORPHA:1368 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:145900 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Cerebellar atrophy, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Decreased compound muscle action potential amplitude, Steppage gait, Vestibular schwannoma |
OMIM:613641 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... |
OMIM:155100 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hand... |
OMIM:162500 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Hand tremor, Abnormal myelination |
ORPHA:401835 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls |
ORPHA:494526 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Axonal degeneration/rege... |
OMIM:218000 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... |
OMIM:601382 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8 |
|
Decreased motor nerve conduction velocity, Distal upper limb muscle weakness, Difficulty walking,... |
OMIM:618912 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Premature ovarian insufficiency, Camptodactyly of finger, Micromelia, Decreased nerve conduction ... |
ORPHA:2928 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity, Sensory axonal neuropathy |
ORPHA:309169 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Ataxia, Tremo... |
OMIM:618387 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Peripheral axonal neuropathy, Decreased distal sensory nerve action potential, Hammertoe, Gait di... |
OMIM:618400 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Cerebellar atrophy, Gait ataxia |
ORPHA:217012 |
Charcot-Marie-Tooth Disease Type 1A |
|
Decreased motor nerve conduction velocity, Acute demyelinating polyneuropathy, Gait disturbance, ... |
ORPHA:101081 |
Stxbp1-Related Encephalopathy |
|
Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Delayed myelination, Spa... |
ORPHA:599373 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Hypogonadism... |
OMIM:615768 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Decreased number of peripheral mye... |
OMIM:607250 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Dystonia 23 |
|
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... |
OMIM:614860 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Elbow flexion contracture, Bradykinesia, Subcortical cere... |
ORPHA:306692 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:618184 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Dy... |
OMIM:612674 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Absent brainstem auditory responses, Hand muscle weakness, Demyelinating mot... |
ORPHA:101085 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Delayed CNS myelination, Parkinsonism, Rigidity, Babinski sign, Slurred speec... |
OMIM:300423 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Clonus, Spastic paraplegia, Babinski sign, Gait distur... |
ORPHA:139578 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Segmental peripheral demyelination/remy... |
OMIM:601455 |
Leukodystrophy, Hypomyelinating, 5 |
|
Decreased motor nerve conduction velocity, Truncal titubation, Babinski sign, Abnormal pyramidal ... |
OMIM:610532 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturbance, Myoclonus, Truncal ataxia... |
ORPHA:363710 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Tremor, EEG with generalized epileptiform discharges, Myoclonus |
OMIM:616187 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral hypomyelination, Abno... |
OMIM:605253 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Torticollis, Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Abn... |
OMIM:607317 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Small for gestational age, Camptodactyly of finger, Decreased ner... |
OMIM:604320 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Lower limb spasticity, Postural tremor, Thenar muscle ... |
OMIM:270685 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Axonal degeneration, Gait ataxia, Abnormal sensory nerve conduction v... |
ORPHA:88628 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, CNS demyelination... |
OMIM:610245 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 |
|
Decreased motor nerve conduction velocity, Claw hand deformity, Decreased compound muscle action ... |
OMIM:605726 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Cerebellar atrophy, Hyperextensibility of the finger joints, Ataxia, Decreased nerve conduction v... |
OMIM:618356 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Decreased nerve co... |
ORPHA:206443 |
Primary Lateral Sclerosis, Juvenile |
|
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... |
OMIM:606353 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal... |
ORPHA:98762 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, Hy... |
OMIM:245200 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia, Palmoplantar hyperkeratosis |
OMIM:309560 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity, F... |
OMIM:616494 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Hypogonadotropic hypogonadism, Camptodactyly of finger, Abnormal pyramidal sign, Dysmetri... |
ORPHA:48431 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Lower limb spasticity, Hand tremor, Spastic dysarthria, Abnormal myelination, Cerebral cortical a... |
ORPHA:401830 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
EEG with polyspike wave complexes, Jerk-locked premyoclonus spikes, Tremor, Myoclonus, Enhancemen... |
OMIM:615127 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Sensory axonal neuropathy |
OMIM:612437 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Hammertoe, Fasciculations, Difficulty walking |
OMIM:615048 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Tremor, Inability to walk, Abnormality of the seventh cranial nerve, Limb fasciculations, Abnorma... |
ORPHA:90117 |
Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome |
|
Peripheral axonal neuropathy, Hypogonadotropic hypogonadism, Inability to walk, Abnormal finger m... |
ORPHA:2560 |
Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia... |
OMIM:607458 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... |
OMIM:617672 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased motor nerve conduction velocity, Progressive truncal ataxia, Swan neck-like deformities... |
OMIM:270550 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination, Dystonia |
OMIM:250850 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Gait disturbance, Tremor |
OMIM:611808 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity, Steppage gait |
OMIM:302801 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Abnormal peripheral myelination, Testicul... |
ORPHA:168563 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Decreased nerve conduction velocity, Choreoathetosis, Leukodystrophy, Dystonia |
OMIM:614932 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity, Steppage gait |
OMIM:607678 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Delayed myelination, Optic atrophy, Spastic diplegia, Hypsarrhythmia |
OMIM:617830 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... |
ORPHA:101110 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Peripheral axonal neuropathy, Axonal degeneration, Diaphragmatic paralysis, Talipes equinovarus, ... |
OMIM:620011 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Focal dystonia, C... |
ORPHA:216873 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
Peroxisome Biogenesis Disorder 8B |
|
Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Loss of ambulation, Ataxia, Limb trem... |
OMIM:614877 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Babinski sign, Unsteady gait, Dy... |
OMIM:159550 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Clonus, Decreased nerve conduction velocity, Poor coordination, Abnormal pyramidal sign, Spastic ... |
OMIM:238970 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Torticollis, Hypergonadotropic hypogonadism, Azoosperm... |
OMIM:613724 |
Triose Phosphate-Isomerase Deficiency |
|
Decreased nerve conduction velocity, Central nervous system degeneration, Diaphragmatic paralysis |
ORPHA:868 |
Myh9-Related Disease |
|
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ce... |
ORPHA:521406 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Intrinsic han... |
OMIM:620068 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Cerebral atrophy, Leukodyst... |
OMIM:617916 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... |
OMIM:615362 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Decreased motor nerve conduction velocity, Incoordination, Ataxia, Split hand, Abnormal pyramidal... |
OMIM:616688 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Delayed myelin... |
OMIM:616756 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia |
OMIM:141500 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Upper motor neuron dysfunction |
OMIM:612577 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Hypsarrhythmia |
OMIM:619561 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... |
OMIM:611302 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... |
OMIM:256731 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607831 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Ataxia, Tremor, Rigidity, Gait disturbance, Decreased ... |
OMIM:603472 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Decreased nerve conduction velocity, Ataxia, Cerebral cortical atrophy |
ORPHA:1188 |
Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal ... |
OMIM:603516 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di... |
ORPHA:314632 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor fun... |
OMIM:302500 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Ataxia, Areflexia of upper limbs, Limb ataxia, Dysmetria, Gait ataxia, Dysdia... |
OMIM:616291 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Tetraparesis, Myoclonus, Dystonia, Spa... |
OMIM:615924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Interictal EEG abnormality, Ataxia, Increased neuronal autofluorescent lipopi... |
ORPHA:79263 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Delayed CNS myelination, Optic neuropathy, Axonal degeneration, Optic atrophy... |
OMIM:616811 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Decreased nerve conduction velocity, Paraparesis, Steppage gait |
OMIM:302802 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Delayed myelination, Poor coordination, Axonal degeneration, Neurodegeneration,... |
ORPHA:478029 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Y |
|
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Hammertoe, Di... |
OMIM:616687 |
Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, Facial palsy, Abnormal motor nerve conduction velocity, Diaphragmatic pa... |
OMIM:614399 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ab... |
OMIM:256600 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Delayed CNS myelination, Ataxia, Tremor, Optic atrophy, Spasticity, Cerebral cortical atrophy |
OMIM:300983 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... |
ORPHA:397946 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Hand muscle weakness, Tremor, Tongue tremor, Hypertonia, Proxima... |
ORPHA:466768 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Cerebellar atrophy, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... |
OMIM:604326 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Hammertoe |
OMIM:613287 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Postural tremor, Tremor, Babinski sign... |
OMIM:607694 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Tremor, Small hand, Truncal ataxia, Dysmetria, Gait... |
OMIM:610185 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Optic... |
ORPHA:330050 |
Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Hand muscle atrophy, Inability to walk, Chorea, Babins... |
ORPHA:95 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... |
ORPHA:423275 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Lower limb spasticity, Involuntary movements, Decreased nerve conduction veloc... |
ORPHA:565624 |
De Sanctis-Cacchione Syndrome |
|
Ataxia, Bilateral cryptorchidism, Babinski sign, Scissor gait, Optic atrophy, Axonal degeneration... |
OMIM:278800 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti... |
ORPHA:442835 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Adrenomyeloneuropathy |
|
Peripheral axonal degeneration, Abnormal libido, Cerebral dysmyelination, Atrophy/Degeneration in... |
ORPHA:139399 |
Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Spastic tetrap... |
OMIM:250100 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Abnormal CNS myelination, Difficulty... |
ORPHA:477673 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Clasp-knife sign, Optic neuropathy,... |
ORPHA:101076 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Hypergonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysm... |
OMIM:617145 |
Cednik Syndrome |
|
Ataxia, Diffuse palmoplantar hyperkeratosis, Optic atrophy, Hypogonadism, Abnormality of peripher... |
ORPHA:66631 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Decreased nerve conduction velocity, Delayed myelination, Choreoathetosis, Lower limb hypertonia,... |
ORPHA:319514 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Dysmyelinating leukodyst... |
OMIM:612319 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Hemiatrophy, Brain... |
ORPHA:306669 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... |
OMIM:618093 |
Spastic Paraparesis And Deafness |
|
Tremor, Hypogonadism, Spastic paraparesis |
OMIM:312910 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... |
OMIM:153670 |
Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sig... |
OMIM:620158 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Cerebellar atrophy, Lower limb spasticity, Broad-based gait, Peripheral axonal neuropathy, Ataxia... |
ORPHA:320391 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Leukodystrophy, Dys... |
OMIM:612438 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Delayed CNS myelination, Ataxia, Hypospadias, Head titubation, Babinski sign, Optic atrophy, Dysm... |
OMIM:618688 |
Cerebrotendinous Xanthomatosis |
|
Abnormal tibia morphology, Axonal degeneration, Abnormal finger morphology, Abnormal femur morpho... |
ORPHA:909 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Optic atrophy, Babinski sign, Dysmetria, Gait ... |
OMIM:210000 |
Cln5 Disease |
|
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Atrophy/D... |
ORPHA:228360 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12 |
|
Decreased motor nerve conduction velocity, Thenar muscle atrophy |
OMIM:614751 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, EEG abnorma... |
OMIM:617810 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Ataxia, Tremor, Obesity, Limb dystonia, Bilateral coxa valga |
OMIM:620270 |
Pelizaeus-Merzbacher Disease |
|
Writer's cramp, Tremor, Sudanophilic leukodystrophy, Abnormal pyramidal sign, Choreoathetosis, In... |
OMIM:312080 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Dystonia, Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Dystonic gait, Abno... |
ORPHA:280219 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... |
OMIM:162400 |
Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Peripheral dysmyelination |
ORPHA:101082 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis |
ORPHA:640 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di... |
ORPHA:98764 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Small hand, Abnormal pyramidal sign, ... |
OMIM:617435 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Brachial plexus neuropathy, Axonal degeneration |
OMIM:162100 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Lower limb spasticity, Peripheral axonal neuropathy, C... |
OMIM:256840 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Peripheral axonal neuropathy, Ataxia |
OMIM:619099 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Parkinsonism, Decreased nerve conduction velocity, Tremor, Intrinsic hand muscl... |
ORPHA:329478 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Orthostatic hypotension, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism w... |
OMIM:616710 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia, Clumsiness, Progr... |
ORPHA:309256 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation, EEG with spike-wave complexes |
OMIM:614018 |
X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Calcaneovalgus deformity... |
ORPHA:93952 |
Folinic Acid-Responsive Seizures |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Spastic tetraparesis, Delayed myelination, Chorea, ... |
ORPHA:79097 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cerebellar ... |
ORPHA:98763 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Subcortical cerebral atrophy, Hypertonia, Cerebral corti... |
ORPHA:33445 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Cerebellar atrophy, Resting tremor, Peripheral axonal neuropathy, Ataxia, Parkinsonism, Babinski ... |
OMIM:617225 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Spastic tetraparesis, Tremor, Elbow flexion contracture, Optic atrophy |
OMIM:619470 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Tremor, Dysmyelinating leukodys... |
ORPHA:137898 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involuntary movements, Or... |
ORPHA:454887 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... |
OMIM:600363 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Tremor, Schistocytosis, Elevated circulating creatinine concentration, Microangi... |
OMIM:274150 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Decreased compound muscle action potential amplitude, Weak grip, Distal upper limb muscle weaknes... |
OMIM:619519 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co... |
OMIM:607876 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Inability to walk, Small hand, Tremor |
OMIM:616269 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... |
OMIM:164500 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... |
ORPHA:251282 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... |
OMIM:613845 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia |
OMIM:128235 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Cerebellar atrophy, Rigidity, Inability to walk, Delayed myelination, Optic atrophy, Athetosis, G... |
OMIM:618241 |
Hereditary Methemoglobinemia |
|
Cerebellar atrophy, Small for gestational age, Delayed myelination, Spastic tetraplegia, Temporal... |
ORPHA:621 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Wild Type Abeta2M Amyloidosis |
|
Decreased nerve conduction velocity, Tetraplegia, Axonal loss, Tetraparesis, Abnormality of the t... |
ORPHA:85446 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Peripheral axonal degeneration, Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spas... |
OMIM:615157 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Spastic tetraparesis, Unsteady gait, Op... |
ORPHA:35069 |
Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:608895 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Babinski sign, Optic atrophy, Vestibular areflexia, Dysmetria, Gait ataxia, Progressive cerebella... |
ORPHA:504476 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
EEG with polyspike wave complexes, Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia, EEG wi... |
OMIM:618587 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki... |
OMIM:300894 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Tremor, Optic atrophy, Abnormal pyrami... |
OMIM:614381 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Spasticity, C... |
OMIM:213200 |
Leukodystrophy, Hypomyelinating, 24 |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Cerebral atrophy, Tongue... |
OMIM:619851 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Clumsiness, Progressive gait a... |
ORPHA:309263 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Waddling gait, Facial palsy, Decreased compound muscle action potential amplitude, Shoulder girdl... |
OMIM:603511 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl... |
OMIM:619028 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:254881 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Tremor, Talipes cavus equinovarus, Abnormal pyramidal sign, Progressive cereb... |
ORPHA:139485 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
4H Leukodystrophy |
|
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Tremor, Optic atrophy, Dysmetria, Prog... |
ORPHA:289494 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Facial palsy, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Difficulty walk... |
OMIM:159950 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Failure to thrive, Ataxia |
OMIM:618951 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Small hand, Spastic tetrap... |
OMIM:300055 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia, Small for gestational age |
OMIM:278780 |
Acromicric Dysplasia |
|
Short metacarpal, Decreased nerve conduction velocity, Small hand, Abnormal femur morphology, Sho... |
ORPHA:969 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Frontotemporal cerebral atrophy, Gait d... |
ORPHA:391417 |
Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy... |
ORPHA:71517 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Br... |
ORPHA:329284 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia... |
OMIM:614575 |
Optic Atrophy 11 |
|
Delayed CNS myelination, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, EEG with fo... |
OMIM:617302 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Cachexia, Babinski sign, 2-3 toe s... |
OMIM:618186 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Delayed CNS myelination, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Failure to thrive, Myoclonus, Dystonia |
OMIM:619651 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Metachromatic Leukodystrophy, Adult Form |
|
Dystonia, Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Clumsiness, ... |
ORPHA:309271 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:102 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Delayed CNS myelination, Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head tituba... |
OMIM:618877 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Abnormal lower motor neuron morphology, Tremor, Inability to walk, Clumsiness, Eye... |
ORPHA:2590 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Hypogonadism, Abnormal autonomic nervo... |
ORPHA:97229 |
Inherited Creutzfeldt-Jakob Disease |
|
Tremor, Chorea, Abnormal pyramidal sign, EEG with persistent abnormal rhythmic activity, Gait ata... |
ORPHA:282166 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Hypertrophic nerve changes |
DECIPHER:29 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Ina... |
ORPHA:52368 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Scapular winging, Generalized dystoni... |
OMIM:614298 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, EEG abnormality, Dystonia |
OMIM:612126 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Focal EEG discharges with ... |
ORPHA:3077 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased number of peripheral myelinated nerve fibers, Autoamputation of digits, Decreased nerve... |
OMIM:201300 |
Atypical Rett Syndrome |
|
Dystonia, Involuntary movements, Tremor, Inability to walk, Small hand, Limb myoclonus, Gait atax... |
ORPHA:3095 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, EEG abnormality, Ataxia, Gait ataxia |
OMIM:617831 |
Yuan-Harel-Lupski Syndrome |
|
Broad-based gait, Sandal gap, Decreased nerve conduction velocity, Unsteady gait, Gait ataxia, Cl... |
OMIM:616652 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Chorea, Optic atroph... |
ORPHA:401768 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity |
OMIM:605589 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr... |
ORPHA:240094 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, EEG abnormality, Dystonia |
OMIM:617836 |
Developmental And Epileptic Encephalopathy 4 |
|
Delayed CNS myelination, Tremor, EEG with burst suppression, Spastic paraplegia, Spastic tetraple... |
OMIM:612164 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... |
ORPHA:227510 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Limb apraxia, Involuntary movements, Tremor, Rigidi... |
ORPHA:240103 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus, Interictal epileptiform activity |
OMIM:615400 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Babinski sign, Cerebral atrophy, G... |
OMIM:616192 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait a... |
OMIM:614831 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tapered finger, Tremor, Babinski sign, ... |
OMIM:616505 |
Aicardi-Goutieres Syndrome 6 |
|
Rigidity, Tremor, Leukodystrophy, Dystonia, Loss of ambulation |
OMIM:615010 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:98933 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Tremor, Limb ataxia, Gait ataxia, Talipes equinovarus, Spasticity, Frequent falls, Cerebellar ver... |
OMIM:616719 |
Malignant Migrating Focal Seizures Of Infancy |
|
Precocious puberty, Inability to walk, Delayed myelination, Multifocal epileptiform discharges, C... |
ORPHA:293181 |
Sialidosis Type 1 |
|
Ataxia, Decreased nerve conduction velocity, Tremor, Slurred speech, EEG abnormality, Gait distur... |
ORPHA:812 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... |
OMIM:609136 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Chronic axonal neuropathy, Cerebellar atrophy, Periphe... |
OMIM:606002 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Hypospadias, Facial palsy, Cryptorchidism, Decreased compound muscle action potential amplitude, ... |
OMIM:301830 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... |
OMIM:619738 |
Hypermanganesemia With Dystonia 2 |
|
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babi... |
OMIM:617013 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus, EEG with spike-wave complexes (2.5-3.5 Hz) |
OMIM:616366 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Unsteady gait, Distal upper l... |
ORPHA:600 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis, Spastic paraplegia, Abnormality of peripheral nerve conduction |
ORPHA:101005 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babin... |
OMIM:616795 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Cerebral atrophy |
OMIM:619405 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Cerebral atrophy |
OMIM:618637 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Rigidity, Babinski sign, Optic atrophy, Hand tremor, Bradykinesia, Gait d... |
ORPHA:289560 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
Multifocal Motor Neuropathy |
|
Weakness of long finger extensor muscles, Motor conduction block, Limited wrist extension, Fascic... |
ORPHA:641 |
Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Chorea, Babinski sign, Optic atroph... |
OMIM:164400 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
ORPHA:99949 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... |
ORPHA:420492 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Flexion contracture of finger, Decreased sensory nerve conduction velocity, Ataxia, Broad-based g... |
OMIM:609033 |
Charcot-Marie-Tooth Disease Type 1E |
|
Hand muscle atrophy, Hand muscle weakness, Decreased nerve conduction velocity, Inability to walk... |
ORPHA:90658 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Inab... |
OMIM:128100 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Poor motor coordination, Tremor, Dysmetria,... |
ORPHA:1170 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Difficulty wa... |
ORPHA:529665 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Difficulty walking, ... |
ORPHA:280210 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Ataxia, Cachexia |
ORPHA:1933 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, At... |
ORPHA:99027 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... |
ORPHA:247234 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Ataxia, Tremor, Gait ataxia, Hypertonia, Myoclonus, Brain atrophy, Cl... |
OMIM:619092 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Hypogonadotropic hypogon... |
ORPHA:298 |
Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Premature ovarian insufficiency, Po... |
OMIM:300623 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Delayed CNS myelination, Ataxia, Tremor, Inability to walk, Hypertonia, Failure to thrive |
OMIM:619556 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia |
ORPHA:324588 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... |
ORPHA:363654 |
Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system p... |
OMIM:168600 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... |
OMIM:261640 |
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 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Unsteady gait, Peripheral hypomyelination, Talipes equinovar... |
OMIM:618733 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Diffuse cerebral atrophy, ... |
ORPHA:206436 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Generalized cerebral ... |
ORPHA:36387 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Hand mu... |
ORPHA:99956 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Choreoathetosis, Dystonia, Clinodactyly of the 5... |
OMIM:619422 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Developmental And Epileptic Encephalopathy 46 |
|
Tremor, Cerebral atrophy, Hypsarrhythmia, Failure to thrive, Limb hypertonia |
OMIM:617162 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Tremor, Inability to walk, EEG abnormality, Brain atrophy, Spasticity |
OMIM:618718 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Abnormal nerve conduction velocity, Camptodactyly of finger |
ORPHA:2926 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Tremor, Athetosis, EEG abnormality, Hypertonia |
OMIM:617106 |
Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Small scrotum, Cryptorchidism, Ina... |
OMIM:615663 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Abnormal CNS myel... |
OMIM:610651 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... |
OMIM:619911 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance, Dystonia, Spasticity |
ORPHA:542310 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Facial palsy, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Parapa... |
OMIM:607483 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... |
ORPHA:274 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Steppage gait, Vocal... |
OMIM:601152 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Delayed CNS myelination, Diffuse cerebral atrophy, Ataxia, Tremor, Optic atro... |
OMIM:617710 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus |
OMIM:612016 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Sandal gap, Failure to ... |
ORPHA:477817 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased motor nerve conduction velocity, Axial dystonia, Failure to thrive in infancy, Spastic ... |
OMIM:619026 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Hypergonadotropic hypogonadism, Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weigh... |
OMIM:137440 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Tremor, Cryptorchidism, Truncal obesity, Hy... |
OMIM:300957 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Delayed CNS myelination, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradyki... |
OMIM:619725 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Dysmetria, Gait ataxia, Choreoathet... |
ORPHA:101 |
Trichohepatoenteric Syndrome 1 |
|
Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemia, Hypermethion... |
OMIM:222470 |
Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... |
OMIM:607330 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, Failure to thrive, Ulnar deviation of the 3rd finger, ... |
ORPHA:456312 |
Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Lower limb spasticity, Optic neuropathy, Babinski sign, Optic atrophy, Poor fine motor coordinati... |
ORPHA:320375 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop... |
ORPHA:363400 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Diffuse cerebral atrophy, Small for gestational age, EEG with multifocal slow activity, Hypertoni... |
ORPHA:289266 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Optic atrophy, Dysmetria, G... |
OMIM:617988 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block |
DECIPHER:31 |
Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thrombocytopenia, Giant platelets, Anemia |
OMIM:611209 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Inability to walk, Steppage gait, Gait imbalance, Abnormality of the autonomic nervous system, Mo... |
ORPHA:36386 |
Spinocerebellar Ataxia 2 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Babinski sign... |
OMIM:183090 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypospadias, Sandal gap, Tremor, Cryptorchidism, Small hand, Gait ataxia, Short foot, Abdominal o... |
OMIM:300354 |
Hurler-Scheie Syndrome |
|
Abnormal nerve conduction velocity, Abnormal pyramidal sign |
ORPHA:93476 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Abnormal autonomic ner... |
OMIM:616840 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Cryptorchidism, Hypertonia, Gait disturbance, Cerebral cortical atrophy |
ORPHA:1192 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Brain atrophy, Cerebral atrophy, Abnormal myelination |
ORPHA:85179 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity, Vocal cord paralysis, Tremor |
ORPHA:397744 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Cryptorchidism, Optic atrophy, Abnormal pyramidal sign... |
OMIM:615419 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Corpus callosum atrophy, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar par... |
OMIM:616586 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation |
ORPHA:209335 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Lower limb spasticity, Ataxia, Tremor, Cryptorchidism, Optic... |
ORPHA:90321 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Metaphyseal chondrodysplasia, Enlargement of the wrists, Babinski sign, Spastic paraplegi... |
ORPHA:83629 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Short palm, Ataxia, Tremor, Small hand, Optic atrophy, Upper limb undergrowth, EEG abnormality, P... |
OMIM:608799 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc... |
OMIM:618060 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... |
ORPHA:97355 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Tremor, Cerebral atrophy, Choreoathetosis, Myoclonus, Dystonia, Episod... |
OMIM:312170 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Decreased nerve conduction velocity, Tremor, Tip-toe gait, Gait disturban... |
ORPHA:512 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Single transverse palmar crease, Tremor, Overweight, Hyperkinetic movements, Gait disturbance, Up... |
ORPHA:457240 |
Leukoencephalopathy With Ataxia |
|
Action tremor, Limb ataxia, Optic neuropathy, Gait ataxia |
OMIM:615651 |
Spinocerebellar Ataxia Type 42 |
|
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Unsteady gait, Babinski sign, Gai... |
ORPHA:458803 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys... |
ORPHA:70594 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dystonia, Spasticity |
OMIM:617664 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Decreased compound muscle action potential amplitude |
OMIM:618323 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Myopathy With Extrapyramidal Signs |
|
Peripheral axonal neuropathy, Ataxia, Clonus, Tremor, Chorea, Optic atrophy, Clumsiness, Choreoat... |
OMIM:615673 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsar... |
ORPHA:485421 |
Friedreich Ataxia |
|
Ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gait ataxia, Decreased sensory nerve conductio... |
OMIM:229300 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Delayed myelination, Optic atrophy, Gait at... |
ORPHA:543470 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Hypospadias, Postaxial polydactyly, Tremor, Poor coordination, Gait disturbance |
ORPHA:544254 |
Peroxisome Biogenesis Disorder 4B |
|
Ataxia, Single transverse palmar crease, Decreased nerve conduction velocity, Optic atrophy, Gait... |
OMIM:614863 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... |
OMIM:168605 |
Ataxia-Telangiectasia |
|
Failure to thrive, Ataxia, Tremor, Polycystic ovaries, Gait disturbance, Spasticity, Abnormal tes... |
ORPHA:100 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
Syndromic Diarrhea |
|
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeo... |
ORPHA:84064 |
Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Failure to thrive, Ataxia, Abnormal peripheral myelination, Abnormal auditory... |
OMIM:216400 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia, Neuronal loss in c... |
ORPHA:683 |
Tay-Sachs Disease |
|
Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Precocious p... |
ORPHA:845 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Rigidity, Tremor, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia |
OMIM:233910 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, H... |
OMIM:105210 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Areflexia of upper limbs, Tremor, Intrinsic hand muscle atrophy, Impaired tandem gait, Polyminimy... |
OMIM:619574 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus... |
OMIM:168601 |
Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Imp... |
OMIM:146500 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Speech apraxia, Cerebellar atrophy, Dystonia, Ataxia, Tremor, Inability to walk, C... |
OMIM:615356 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, Syndactyly, EEG with focal spike waves, Ataxia, Tremor, Unstea... |
ORPHA:1942 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Increased blood urea nitrogen |
OMIM:223360 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen |
ORPHA:230 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Osteolytic defects of the middle phalanx of the 4th toe, Abnormal... |
ORPHA:765 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, CNS hypomyelinat... |
OMIM:618527 |
Chediak-Higashi Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Tremor, Gait disturbance, Neurodegeneration |
OMIM:214500 |
Cockayne Syndrome B |
|
Failure to thrive, Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, ... |
OMIM:133540 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Hand muscle weakness, Decr... |
OMIM:606070 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Toe syndactyly, Sandal gap, Camptodactyly of finger, Broad-based gait, Cache... |
ORPHA:85293 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Dystonia, Weakness due to upper motor neuron dysfuncti... |
ORPHA:79139 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Small thenar eminence, Decreased compound muscle action potential amplitude, Cl... |
OMIM:620080 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... |
OMIM:613280 |
Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Dystonia, EEG with spike-wave complexes, Precocious... |
ORPHA:1934 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Decreased... |
OMIM:617718 |
Spontaneous Periodic Hypothermia |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:29822 |
Scheie Syndrome |
|
Abnormal nerve conduction velocity, Cerebral palsy, Spastic paraparesis |
ORPHA:93474 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Ataxia, EEG with abnormally slow frequencies, Tremor, Delayed myelination, Obes... |
ORPHA:98794 |
Cystathioninuria |
|
Tremor, Talipes equinovarus |
ORPHA:212 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Optic atrophy, Abnormal myelination |
ORPHA:352682 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ata... |
OMIM:618056 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Lethal Congenital Contracture Syndrome 5 |
|
Decreased nerve conduction velocity, EEG with burst suppression, Small for gestational age |
OMIM:615368 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Young-Onset Parkinson Disease |
|
Tremor, Rigidity, Spasticity, Bradykinesia, Male sexual dysfunction, Abnormal autonomic nervous s... |
ORPHA:2828 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss |
ORPHA:178509 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Testicular atrophy, Decreased fertility, Fasciculations |
OMIM:313200 |
Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... |
OMIM:602481 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Shuffling gait, Dyst... |
ORPHA:411602 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Optic atrophy, A... |
OMIM:234200 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
Cockayne Syndrome |
|
Progressive gait ataxia, Hypertonia, Intention tremor, Ataxia, Cerebral dysmyelination, Cryptorch... |
ORPHA:191 |
Saccharopinuria |
|
Tremor, Spastic diplegia, Gait ataxia |
ORPHA:3124 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology |
OMIM:243000 |
Poliomyelitis |
|
Abnormal motor nerve conduction velocity, Paralysis, Inability to walk, Paraparesis, Hyperkinetic... |
ORPHA:2912 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Chorea, Axonal loss, Athetosis, EEG abnormality, Myoclonus, Acromesomelia, Oculomotor apraxia, Ce... |
ORPHA:404454 |
Xeroderma Pigmentosum, Complementation Group F |
|
Tremor, Ataxia, Brain atrophy, Decreased body weight |
OMIM:278760 |
Congenital Disorder Of Deglycosylation 1 |
|
Delayed CNS myelination, Single transverse palmar crease, Involuntary movements, Delayed myelinat... |
OMIM:615273 |
Wolfram Syndrome 1 |
|
Ataxia, Tremor, Optic atrophy, Limited mobility of proximal interphalangeal joint, Cerebral atrop... |
OMIM:222300 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Caudate atrophy, Optic nerve hypoplasia, Clonus, Tremor, EEG with b... |
OMIM:615574 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
Ddost-Cdg |
|
Tremor, Failure to thrive, Oromotor apraxia, CNS hypomyelination |
ORPHA:300536 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Granu... |
OMIM:601104 |
Angioedema, Hereditary, 1 |
|
Peripheral axonal neuropathy, Axonal degeneration |
OMIM:106100 |
Choreoacanthocytosis |
|
Caudate atrophy, Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Decre... |
ORPHA:2388 |
Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Babinski sign, Abnormal pyramida... |
ORPHA:79138 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive... |
ORPHA:49041 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Tremor, Cranial nerve compression, Vocal cord paralysis, Weight l... |
ORPHA:94080 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Kallmann Syndrome |
|
Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, ... |
ORPHA:478 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Ataxia, Camptodactyly of finger, Dystonia, Tremor, Unsteady gait, Optic atr... |
ORPHA:354 |
O'Sullivan-Mcleod Syndrome |
|
Hand muscle weakness, Tremor, Atrophy of the spinal cord, Intrinsic hand muscle atrophy, Fascicul... |
ORPHA:99965 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, EEG with focal spike waves, Sandal gap, Ataxia, Tremor, Inability to walk,... |
OMIM:619229 |
Chédiak-Higashi Syndrome |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Decreased nerve conduction velocity, Inability to walk,... |
ORPHA:167 |
D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Cerebral dysmyelination, Decreased nerve conduction velocity, Corpus callosum... |
OMIM:261515 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Incoordination, Ataxia, Single transverse palmar crease, Tremor, Unsteady gait... |
OMIM:614947 |
Angelman Syndrome |
|
Optic disc pallor, Broad-based gait, Ataxia, Precocious puberty in females, Cerebral dysmyelinati... |
ORPHA:72 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Optic atrophy, Cerebral atrophy, Head ... |
ORPHA:314404 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Decreased motor nerve conduction velocity, Autoamputation of digits, Distal upper limb muscle wea... |
OMIM:613640 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Tremor, Inability to walk, Primary amenorrhea, Dysmetria, Limb ataxia, Dysdiadochokinesis... |
OMIM:617675 |
Hurler Syndrome |
|
Cerebral palsy, Camptodactyly of finger, Abnormality of the elbow, Abnormal pyramidal sign, Abnor... |
ORPHA:93473 |
Chromosome 18Q Deletion Syndrome |
|
Broad-based gait, Toe syndactyly, Hypospadias, Rocker bottom foot, Proximal placement of thumb, O... |
OMIM:601808 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Fasciculations, Brain a... |
OMIM:620327 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Peripheral axonal neuropathy, Unsteady gait, Abnormality of peripheral nerve c... |
ORPHA:90324 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Hypergonadotropic hypogonadism, Ataxia, Tremor, Myo... |
OMIM:607426 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Wilson Disease |
|
Dystonia, Poor motor coordination, Decreased nerve conduction velocity, Tremor, Rigidity, Hand tr... |
OMIM:277900 |
Multiple Sulfatase Deficiency |
|
Broad hallux phalanx, Optic atrophy, Broad thumb, Abnormality of peripheral nerve conduction |
ORPHA:585 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Decreased distal sensory nerve acti... |
OMIM:606071 |
Aceruloplasminemia |
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Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, Chorea, Lim... |
ORPHA:48818 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Ataxia, Tremor, Delayed myelination, Spastic tetraplegia, Dysmetria, Cerebral... |
ORPHA:572798 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Rhizomelia, Ataxia, Tremor, Brachioradialis areflexia, Cerebral atrophy, Opis... |
OMIM:616271 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Dystonia, Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesi... |
ORPHA:309854 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Ataxia-Telangiectasia |
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Female hypogonadism, Ataxia, Tremor, Inability to walk, Slurred speech, Abnormal spermatogenesis,... |
OMIM:208900 |
Thyrotoxic Periodic Paralysis |
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Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic... |
ORPHA:79102 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
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Bowing of the long bones, Ataxia, Metaphyseal sclerosis, Tremor, Optic atrophy, Abnormal pyramida... |
OMIM:612199 |
Alexander Disease |
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Ataxia, Facial palsy, Clonus, Precocious puberty, Tremor, Chorea, Abnormal pyramidal sign, Tetrap... |
ORPHA:58 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Tremor, Primary amenorrhea, Dysmetria, Progressive cerebellar ataxia, Dysdiado... |
ORPHA:502423 |
Wiskott-Aldrich Syndrome |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Tetanus |
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Tremor, Rigidity, Opisthotonus, Hypertonia, Abnormal autonomic nervous system physiology, Autonom... |
ORPHA:3299 |
Joubert Syndrome |
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Aganglionic megacolon, Ataxia, Tremor, Hand polydactyly, Gait disturbance, Foot polydactyly, Ocul... |
ORPHA:475 |
Autosomal Dominant Spastic Paraplegia Type 9A |
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Tremor, Corpus callosum atrophy, Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Lowe... |
ORPHA:447753 |
Orofaciodigital Syndrome Type 6 |
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Syndactyly, Mesoaxial polydactyly, Ataxia, Bilateral cryptorchidism, Tremor, Central Y-shaped met... |
ORPHA:2754 |
Niemann-Pick Disease Type C |
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Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Leukodystrophy, Limb dystonia, ... |
ORPHA:646 |
Adult-Onset Dystonia-Parkinsonism |
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Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Gabriele-De Vries Syndrome |
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Hallux valgus, Waddling gait, Delayed CNS myelination, Sandal gap, Tremor, Cryptorchidism, Long f... |
OMIM:617557 |
Joubert Syndrome With Renal Defect |
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Aganglionic megacolon, Ataxia, Tremor, Hand polydactyly, Gait disturbance, Oculomotor apraxia |
ORPHA:220497 |
Autosomal Dominant Progressive External Ophthalmoplegia |
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Cerebellar atrophy, Resting tremor, Failure to thrive, Peripheral axonal neuropathy, Ataxia, Faci... |
ORPHA:254892 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Anemia, Opisthotonus |
OMIM:184850 |
Triosephosphate Isomerase Deficiency |
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Optic disc pallor, Tremor, Unsteady gait, Cerebral atrophy, Dystonia, Spasticity, Failure to thrive |
OMIM:615512 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Dpagt1-Cdg |
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Arachnodactyly, Ataxia, Akinesia, Tremor, Inability to walk, Optic atrophy, CNS hypomyelination, ... |
ORPHA:86309 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athet... |
ORPHA:25 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Ataxia, Tremor, Hypogonadism, Failure to thrive, Decreased testicular size |
OMIM:201100 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
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Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... |
ORPHA:276621 |
Alternating Hemiplegia Of Childhood |
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Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign, Choreoathetosis, ... |
ORPHA:2131 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Ataxia, Small for gestational age, Tremor, Cryptorchidism, Neonatal death, Failure t... |
OMIM:614052 |
Monosomy 18Q |
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Arachnodactyly, Abnormal palmar dermatoglyphics, Tapered finger, Bilateral cryptorchidism, Poor c... |
ORPHA:1600 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Weight loss, Periodic paralysis |
OMIM:613239 |
Kanzaki Disease |
|
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy |
OMIM:609242 |
Hyperlysinemia |
|
Neck hypertonia, Poor motor coordination, Spastic tetraparesis, EEG with spike-wave complexes, Tr... |
ORPHA:2203 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
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Delayed CNS myelination, Tremor, Babinski sign, 2-3 toe syndactyly, Hypertonia, Brain atrophy, Sp... |
OMIM:616539 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Benign Schwannoma |
|
Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Abnorm... |
ORPHA:252164 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Abnormal myelination, Talipes equinovarus, Camptodactyly |
OMIM:617333 |
Friedreich Ataxia 2 |
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Incoordination, Ataxia, Babinski sign, Hammertoe, Abnormality of peripheral nerve conduction |
OMIM:601992 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Tyrosinemia Type 2 |
|
Tremor, Palmoplantar keratoderma, Ataxia |
ORPHA:28378 |
Aicardi-Goutières Syndrome |
|
Extrapyramidal muscular rigidity, Dystonia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal si... |
ORPHA:51 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
Oculopharyngodistal Myopathy 1 |
|
Ataxia, Facial palsy, Tremor, Weight loss, Difficulty walking, Brain atrophy |
OMIM:164310 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Elevated circulating creatine kinase concentration |
OMIM:253800 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Goodpasture Syndrome |
|
Anemia, Increased blood urea nitrogen |
OMIM:233450 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
Sandhoff Disease |
|
Exaggerated startle response, Hepatosplenomegaly |
OMIM:268800 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Abnormal myelination |
ORPHA:67045 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
Mucopolysaccharidosis Type 2 |
|
Decreased nerve conduction velocity, Papilledema, Optic atrophy |
ORPHA:580 |
Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Exaggerated startle response, Dystonia |
ORPHA:79255 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
Hypermobile Ehlers-Danlos Syndrome |
|
Abnormality of the menstrual cycle, Decreased nerve conduction velocity, Elbow dislocation, Cysto... |
ORPHA:285 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia |
ORPHA:1578 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Abnormality of the autonomic nervous system, Difficulty walking, Abnormality of peripheral nerve ... |
ORPHA:642 |
Degcags Syndrome |
|
Syndactyly, Toe syndactyly, Hypospadias, Small for gestational age, Cryptorchidism, Short thumb, ... |
OMIM:619488 |
Orofaciodigital Syndrome Type 14 |
|
Broad hallux, Deviation of the hallux, Bilateral cryptorchidism, Epispadias, Postaxial hand polyd... |
ORPHA:434179 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Anemia, Exaggerated startle response, Decreased serum iron, Dystonia |
ORPHA:438213 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |