Myoclonic Epilepsy, Hartung Type |
|
Generalized myoclonic seizure |
OMIM:159600 |
Mental Retardation, X-Linked 89 |
|
Generalized myoclonic seizure |
OMIM:300848 |
Myoclonic Epilepsy, Progressive |
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Generalized myoclonic seizure |
OMIM:310370 |
Epilepsy, Childhood Absence, Susceptibility To, 5 |
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Generalized non-motor (absence) seizure |
OMIM:612269 |
Laryngeal Adductor Paralysis |
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Paralysis |
OMIM:150270 |
Atonic-Astatic Syndrome Of Foerster |
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Abasia, Ataxia, Inability to walk, Generalized hypotonia, Hypotonia |
OMIM:209100 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
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Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... |
OMIM:607628 |
Autosomal Dominant Focal Dystonia, Dyt25 Type |
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Torticollis, Lingual dystonia, Axial dystonia, Laryngeal dystonia, Craniofacial dystonia, Limb dy... |
ORPHA:329466 |
Dystonia, Early-Onset, And/Or Spastic Paraplegia |
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Spastic paraplegia, Dystonia, Difficulty walking, Laryngeal dystonia |
OMIM:619681 |
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
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Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination |
OMIM:162600 |
X-Linked Spastic Paraplegia Type 34 |
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Impaired vibration sensation in the lower limbs, Ankle clonus, Babinski sign, Shuffling gait, Low... |
ORPHA:171607 |
Epilepsy, Familial Temporal Lobe, 7 |
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Focal sensory seizure with auditory features |
OMIM:616436 |
Optic Atrophy 2 |
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Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
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Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Ataxia, Sensory, 1, Autosomal Dominant |
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Gait instability, worse in the dark, Positive Romberg sign, Babinski sign, Sensory ataxia |
OMIM:608984 |
Neuropathy, Hereditary Sensory, Atypical |
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Ataxia, Babinski sign, Sensory ataxia |
OMIM:256860 |
Spastic Paraplegia 24, Autosomal Recessive |
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Spastic paraplegia, Spasticity, Tip-toe gait, Clonus |
OMIM:607584 |
Dystonia 25 |
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Torticollis, Lingual dystonia, Laryngeal dystonia, Limb dystonia |
OMIM:615073 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
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Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:617924 |
Intellectual Developmental Disorder, X-Linked 41 |
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Generalized non-motor (absence) seizure |
OMIM:300849 |
Primary Dystonia, Dyt27 Type |
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Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
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Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... |
OMIM:607631 |
Early-Onset Generalized Limb-Onset Dystonia |
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Gait disturbance, Hypertonia |
ORPHA:256 |
Epilepsy, Idiopathic Generalized |
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Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized myoclonic se... |
OMIM:600669 |
Primary Dystonia, Dyt17 Type |
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Torticollis, Generalized dystonia, Craniofacial dystonia |
ORPHA:370103 |
Spastic Paraplegia 61, Autosomal Recessive |
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Spastic paraplegia, Scissor gait, Inability to walk, Spasticity |
OMIM:615685 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
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Tremor, Ataxia, Generalized hypotonia, Hypotonia |
OMIM:213000 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
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Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:608236 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9 |
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Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:614280 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
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Atonic seizure, Focal impaired awareness seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:616172 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
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Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:616685 |
Episodic Ataxia, Type 1 |
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Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
Epilepsy, Familial Temporal Lobe, 8 |
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Focal impaired awareness seizure, Deja vu aura, Focal aware cognitive seizure with forced thinkin... |
OMIM:616461 |
Neuhauser-Eichner-Opitz Syndrome |
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Hypertonia, Ataxia, Rigidity, Spasticity, Hypotonia |
ORPHA:2672 |
Dystonia 6, Torsion |
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Torticollis, Oromandibular dystonia, Lingual dystonia, Laryngeal dystonia, Myoclonus, Writer's cr... |
OMIM:602629 |
Ataxia-Oculomotor Apraxia Type 1 |
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Gait disturbance, Ataxia |
ORPHA:1168 |
Primary Dystonia, Dyt13 Type |
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Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604233 |
Intellectual Developmental Disorder, X-Linked 100 |
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Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
Dystonia 4, Torsion, Autosomal Dominant |
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Torticollis, Hemidystonia, Gait ataxia, Limb dystonia, Torsion dystonia, Generalized dystonia |
OMIM:128101 |
Dystonia 17, Torsion, Autosomal Recessive |
|
Torticollis, Focal dystonia |
OMIM:612406 |
Paralysis Agitans, Juvenile, Of Hunt |
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Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:168100 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
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Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... |
OMIM:614561 |
Normokalemic Periodic Paralysis |
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Periodic paralysis, Percussion myotonia |
OMIM:170600 |
Striatonigral Degeneration, Childhood-Onset |
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Hypertonia, Loss of ambulation, Craniofacial dystonia, Unsteady gait, Dystonia |
OMIM:617054 |
Benign Hereditary Chorea |
|
Gait disturbance |
ORPHA:1429 |
Psychogenic Movement Disorders |
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Gait disturbance |
ORPHA:71519 |
Dystonia 27 |
|
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor |
OMIM:616411 |
Developmental And Epileptic Encephalopathy 9 |
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Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure... |
OMIM:300088 |
Episodic Ataxia With Slurred Speech |
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Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
Dystonia 33 |
|
Axial dystonia, Babinski sign, Spasticity, Limb dystonia, Dystonia, Axial hypotonia |
OMIM:619687 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
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Atonic seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... |
OMIM:604403 |
Spinocerebellar Ataxia, X-Linked 2 |
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Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
Primary Orthostatic Tremor |
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Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
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Somatic sensory dysfunction, Hand tremor, Steppage gait |
OMIM:300905 |
Spinocerebellar Ataxia Type 15/16 |
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Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Episodic Kinesigenic Dyskinesia 2 |
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Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea |
OMIM:611031 |
Epilepsy, Myoclonic Juvenile |
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Status epilepticus, Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-moto... |
OMIM:254770 |
Epilepsy, Familial Temporal Lobe, 3 |
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Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset |
OMIM:611630 |
Dystonia With Cerebellar Atrophy |
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Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia |
OMIM:611694 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:613060 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
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Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... |
OMIM:613863 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Generalized hypotonia, Trun... |
ORPHA:94122 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Intention tremor, Generalized hypotonia, Gait ataxia, Hypotonia |
OMIM:601238 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
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Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
Dystonia 23 |
|
Torticollis, Axial dystonia, Myoclonus, Head tremor, Gait disturbance, Writer's cramp, Limb dystonia |
OMIM:614860 |
Neuronopathy, Distal Hereditary Motor, Type Vc |
|
Babinski sign, Frequent falls, Chaddock reflex, Decreased compound muscle action potential amplit... |
OMIM:619112 |
Febrile Seizures, Familial, 9 |
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Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:611634 |
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia |
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Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Episodic ataxia |
OMIM:168885 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor, Neonatal hypotonia |
OMIM:300703 |
Paramyotonia Congenita Of Von Eulenburg |
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Myotonia of the face, Paradoxical myotonia, Cold-sensitive myotonia, Myotonia, Periodic hypokalem... |
ORPHA:684 |
Posterior Column Ataxia |
|
Impaired proprioception, Ataxia, Impaired vibratory sensation |
OMIM:176250 |
Hereditary Motor And Sensory Neuropathy V |
|
Hypertonia, Distal muscle weakness, Decreased motor nerve conduction velocity, Babinski sign, Abn... |
OMIM:600361 |
Developmental And Epileptic Encephalopathy 38 |
|
Hypertonia, Ataxia, Generalized hypotonia, Dystonia |
OMIM:617020 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
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Hand muscle weakness, Segmental peripheral demyelination/remyelination, Decreased motor nerve con... |
OMIM:162500 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block |
DECIPHER:31 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ataxia, Inability to walk, Abnormality of extrapyramidal motor function, Generalized hypotonia, A... |
OMIM:615159 |
Autosomal Recessive Spastic Paraplegia Type 56 |
|
Tip-toe gait, Babinski sign, Spastic paraplegia, Unsteady gait, Spastic gait, Dystonia |
ORPHA:320411 |
Generalized Epilepsy With Febrile Seizures Plus, Type 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:618482 |
Dystonia With Ringbinden |
|
Gait disturbance, Dystonia, Chorea |
OMIM:224550 |
Epilepsy, Progressive Myoclonic, 11 |
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Ataxia, Intention tremor, Myoclonus, Rigidity, Giant somatosensory evoked potentials, Cerebellar ... |
OMIM:618876 |
Dystonia 30 |
|
Torticollis, Leg dystonia, Oromandibular dystonia, Loss of ambulation, Writer's cramp, Dystonia, ... |
OMIM:619291 |
Tapetoretinal Degeneration With Ataxia |
|
Ataxia |
OMIM:272600 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Ataxia, Decreased nerve conduction velocity, Hypoesthesia, Segmental peripheral demyelination/rem... |
OMIM:601098 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:607734 |
Episodic Ataxia Type 5 |
|
Ataxia, Truncal ataxia |
ORPHA:211067 |
Cerebellar Ataxia And Albinism |
|
Ataxia, Head tremor |
OMIM:258300 |
Epilepsy, Familial Temporal Lobe, 4 |
|
Focal sensory seizure with visual features, Focal impaired awareness seizure, Focal aware seizure |
OMIM:611631 |
Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor |
OMIM:616736 |
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum |
|
Tip-toe gait, Babinski sign, Spastic paraplegia, Unsteady gait, Dystonia |
OMIM:615030 |
Autosomal Recessive Spastic Paraplegia Type 24 |
|
Tip-toe gait, Spastic paraplegia, Scissor gait, Spasticity, Clonus |
ORPHA:101004 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Spinocerebellar Ataxia Type 4 |
|
Ataxia, Impaired vibratory sensation, Gait disturbance, Impaired proprioception, Impaired tactile... |
ORPHA:98765 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Difficulty walking |
ORPHA:85292 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor |
OMIM:619491 |
Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:614895 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Flexion contracture, Proximal muscle weakness in lower limbs, Onion bulb formation, Decreased mot... |
OMIM:607706 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... |
OMIM:600512 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
Episodic Ataxia, Type 8 |
|
Intention tremor, Ataxia, Slurred speech, Episodic ataxia |
OMIM:616055 |
Cerebellar Ataxia, Benign, With Thermoanalgesia |
|
Impaired temperature sensation, Progressive cerebellar ataxia |
OMIM:212890 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
Episodic Kinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:128200 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... |
ORPHA:99657 |
Seizures, Benign Familial Infantile, 2 |
|
Generalized-onset seizure, Focal-onset seizure |
OMIM:605751 |
Epilepsy, Progressive Myoclonic 7 |
|
Ataxia, Myoclonus, Tremor, Cerebellar atrophy, Seizure |
OMIM:616187 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Gait imbalance, Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Difficulty w... |
ORPHA:435387 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Abnormality of the Achilles tendon, Babinski sign, Spastic paraplegia, Optic atrophy, Spasticity,... |
ORPHA:431329 |
Dystonia 15, Myoclonic |
|
Writer's cramp, Myoclonus, Dystonia |
OMIM:607488 |
Dystonia 16 |
|
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Unsteady gait, P... |
ORPHA:210571 |
Distal Myopathy, Welander Type |
|
Intrinsic hand muscle atrophy, Clumsiness, EMG: myopathic abnormalities, Rimmed vacuoles, Foot do... |
ORPHA:603 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:600116 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity, Impaired vibratory sensation |
ORPHA:217012 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Action tremor, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ... |
OMIM:180800 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait, Axial hypotonia |
ORPHA:494526 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Tremor, Difficulty walking, Abnormality of somatosensory evoked potentials, Peripheral demyelinat... |
ORPHA:206594 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Hand tremor, Babinski sign, Progressive spastic paraplegia, Spastic gait, Lower limb spasticity |
ORPHA:401840 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... |
OMIM:611228 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Torticollis, Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:118800 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Intention tremor, Myoclonus, Progressive gait ataxia, Generalized ... |
ORPHA:2589 |
Dystonia 31 |
|
Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Difficulty walking, Arm dyston... |
OMIM:619565 |
Hydrocephalus With Cerebellar Agenesis |
|
Cerebellar agenesis, Hydrocephalus |
OMIM:307010 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Neonatal hypotonia, Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve condu... |
OMIM:605253 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Ataxia, Cerebral atrophy, Myoclonus, Cerebellar atrophy, Seizure, Increased neuronal autofluoresc... |
OMIM:600143 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Peripheral axonal atrophy, Hypertonia, Decreased sensory nerve conduction velocity, Onion bulb fo... |
OMIM:609260 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Abnormal cerebellum morphology, Myoclonus, Parkinsonism, Myoclonic seizure, Bilateral ton... |
OMIM:162350 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
|
Atypical absence seizure, Myoclonic absence seizure, Myoclonic seizure |
OMIM:618596 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait ataxia |
OMIM:617018 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Abnormal cerebellum morphology, Myoclonus, Babinski sign, Tremor, Diffuse cerebral atroph... |
OMIM:615362 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Hand muscle weakness, Motor conduction block, Decreased nerve conduction velocity, Segmental peri... |
ORPHA:2932 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction |
ORPHA:423296 |
Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
Spinocerebellar Ataxia Type 37 |
|
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... |
ORPHA:363710 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... |
OMIM:618357 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Appendicular hypotonia, Ataxia, Inability to walk, Hypotonia |
OMIM:619333 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Paraparesis, Decreased nerve conduction velocity, Distal muscle weakness, Foot dorsiflexor weakne... |
OMIM:302802 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait, Hypotonia |
OMIM:617917 |
Spastic Paraplegia 87, Autosomal Recessive |
|
Upper limb spasticity, Babinski sign, Spastic gait, Lower limb spasticity, Dystonia |
OMIM:619966 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, Babinski sign, Generalized hypotonia, Gait ataxia, Muscle we... |
OMIM:249900 |
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy |
|
Distal upper limb muscle weakness, Impaired vibratory sensation, Proximal muscle weakness in lowe... |
OMIM:618912 |
Myoclonus, Familial, 1 |
|
Frequent falls, Ataxia, Falls, Myoclonus |
OMIM:614937 |
Paroxysmal Kinesigenic Dyskinesia |
|
Chorea, Athetosis, Writer's cramp, Involuntary movements, Dystonia |
ORPHA:98809 |
Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
Multifocal Motor Neuropathy |
|
Motor conduction block, Progressive muscle weakness, Limb muscle weakness, Weakness of long finge... |
ORPHA:641 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Intrinsic hand muscle atrophy, Inability to walk, Proximal muscle weakness in lower limbs, EMG: m... |
ORPHA:276435 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Distal muscle weakness, Decreased motor nerve conduction velocity, Foot dorsiflexor weakness, Dis... |
OMIM:302801 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Gait disturbance, Involuntary movements, Spasti... |
OMIM:617282 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Proximal muscle weakness, Myelin tomacula, Decreased sensory nerve conduction velocity, Segmental... |
OMIM:145900 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Decreased nerve conduction velocity, Hand tremor, Impaired vibration sensation in the lower limbs... |
ORPHA:352675 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait, Axial hypot... |
OMIM:616921 |
Perioral Myoclonia With Absences |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
ORPHA:139426 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Dystonia |
OMIM:125370 |
Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Atrophy/Degeneration affecting the brai... |
OMIM:616230 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ataxia, Generalized myoclonic seizure, Myoclonus, Ragged-red muscle fibers, Spasticity, Seizure, ... |
OMIM:545000 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Ataxia-Microcephaly-Cataract Syndrome |
|
Ataxia, Generalized hypotonia, Hypotonia |
OMIM:208870 |
Spastic Ataxia With Congenital Miosis |
|
Ataxia, Hemiplegia/hemiparesis, Spastic ataxia |
ORPHA:1182 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Dystonia, Inability to walk, Spastic tetraplegia |
OMIM:618646 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... |
OMIM:617158 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Decreased nerve conduction velocity, Distal muscle weakness, Gait disturbance, Tremor, Im... |
ORPHA:101078 |
Juvenile Myoclonic Epilepsy |
|
Status epilepticus, Morning myoclonic jerks, Febrile seizure (within the age range of 3 months to... |
ORPHA:307 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Dista... |
OMIM:118210 |
Hyperkalemic Periodic Paralysis |
|
Myotonia, Periodic hyperkalemic paralysis |
OMIM:170500 |
Muscular dystrophy, limb-girdle, type 2R |
|
Muscular dystrophy, Scapular winging, Elbow flexion contracture, Facial palsy |
OMIM:615325 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Gait disturbance |
OMIM:611808 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Tip-toe gait, Axonal degeneration, Decreased motor nerve conduction velocity, Peripheral axonal d... |
OMIM:614436 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Hand muscle weakness, Babinski sign, Abnormality of the foot musculature, Hand muscle atrophy, Fo... |
ORPHA:100998 |
Juvenile Absence Epilepsy |
|
Myoclonus, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic ... |
ORPHA:1941 |
Dystonia, Focal, Task-Specific |
|
Writer's cramp |
OMIM:611284 |
Torsion Dystonia With Onset In Infancy |
|
Torsion dystonia |
OMIM:602554 |
Dystonia 35, Childhood-Onset |
|
Dystonia |
OMIM:619921 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Decreased sensory nerve conduction velocity, Distal muscle weakness, Decreased motor nerve conduc... |
OMIM:608323 |
Neuronopathy, Distal Hereditary Motor, Type Vb |
|
Decreased motor nerve conduction velocity |
OMIM:614751 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Calf muscle pseudo... |
OMIM:604286 |
Developmental And Epileptic Encephalopathy 19 |
|
Status epilepticus, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, M... |
OMIM:615744 |
Ataxia With Fasciculations |
|
Fasciculations, Ataxia |
OMIM:108700 |
Developmental And Epileptic Encephalopathy 57 |
|
Atypical absence seizure, Generalized myoclonic seizure, Seizure |
OMIM:617771 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Pa... |
ORPHA:98810 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Dysmetria, Myoclonus, Lower limb s... |
OMIM:619028 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Facial diplegia, Poor head control, Severe muscular hypotonia, Onion bulb formation, Decreased mo... |
OMIM:618184 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:609446 |
Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Decreased motor nerve conduction velocity, Lower limb amyotrophy, Lower limb muscle weakness, Spi... |
OMIM:615575 |
Spinal Muscular Atrophy, Type Iv |
|
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Hand tremor, Calf musc... |
OMIM:271150 |
Spinocerebellar Ataxia Type 14 |
|
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremo... |
ORPHA:98763 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased number of large peripheral myelinated nerve fibers, Amyotrophy of ankle musculature, Di... |
ORPHA:90103 |
Primary Dystonia, Dyt21 Type |
|
Torticollis, Axial dystonia, Blepharospasm, Laryngeal dystonia, Limb dystonia, Focal dystonia, Dy... |
ORPHA:306734 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2 |
|
Difficulty walking, Rigidity, Dystonia, Sensory ataxia |
OMIM:619661 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Sensorineural hearing impairment, Dysmetria, Axonal degeneration, Hand tremor, Onion... |
OMIM:302800 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Ataxia, Hypotonia |
ORPHA:1397 |
Neuronopathy, Distal Hereditary Motor, Type Iib |
|
Difficulty walking, Paralysis |
OMIM:608634 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Torsion dystonia, Paresthesia, Paroxysmal... |
ORPHA:98811 |
Developmental And Epileptic Encephalopathy 94 |
|
Status epilepticus, Atonic seizure, Tonic seizure, Generalized myoclonic seizure, Febrile seizure... |
OMIM:615369 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Distal ... |
OMIM:605285 |
Myopathy, Myofibrillar, 6 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency, Myofibrillar myopath... |
OMIM:612954 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Hypertonia, Ataxia, Clumsiness, Proximal muscle weakness, Distal muscle weakness, Decreased motor... |
OMIM:616688 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Gowers sign, Poor head control, Flexion contracture, Distal muscle weakness, Favorable response o... |
ORPHA:353327 |
Isolated Cerebellar Agenesis |
|
Hypertonia, Ataxia, Hypotonia |
ORPHA:1398 |
Developmental And Epileptic Encephalopathy 26 |
|
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... |
OMIM:616056 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Distal muscle weakness, Peripheral ... |
OMIM:608673 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
Dravet Syndrome |
|
Status epilepticus, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, G... |
OMIM:607208 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Myoclonus, Frequent falls, Tremor, Dystonia, Axial hypotonia |
OMIM:619647 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:607681 |
Null Syndrome |
|
Ataxia, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Progressive spa... |
ORPHA:280234 |
Autosomal Spastic Paraplegia Type 30 |
|
Ataxia, Babinski sign, Distal sensory impairment, Somatic sensory dysfunction, Progressive spasti... |
ORPHA:101010 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity |
OMIM:605589 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Distal muscl... |
OMIM:118200 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Unsteady ... |
OMIM:616053 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Increased intramyocellular lipid droplets, Tremor, Ce... |
OMIM:612016 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Distal muscle weakness, Decreased motor nerve conduction velocity, Foot dorsiflexor weakness, Upp... |
OMIM:607678 |
X-Linked Complicated Spastic Paraplegia Type 1 |
|
Spastic paraplegia, Ataxia, Upper motor neuron dysfunction |
ORPHA:306617 |
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Demyelinating motor neuropathy, Lower limb muscle weakness, Demyelinating sensory neuropathy, Pro... |
ORPHA:208981 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Axonal degeneration, Spastic paraparesis, Dysd... |
OMIM:615157 |
Spinocerebellar Ataxia Type 11 |
|
Gait imbalance, Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty walking, Dystonia |
ORPHA:98767 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, EEG with irregular generalize... |
OMIM:601068 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... |
OMIM:607671 |
Primary Dystonia, Dyt6 Type |
|
Torticollis, Lingual dystonia, Blepharospasm, Laryngeal dystonia, Craniofacial dystonia, Limb dys... |
ORPHA:98806 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity, Distal muscle weakness, Hand muscle atrophy, Proximal muscle... |
ORPHA:99944 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... |
OMIM:617284 |
Paroxysmal Nonkinesigenic Dyskinesia 2 |
|
Paroxysmal dystonia |
OMIM:611147 |
Developmental Delay With Dysmorphic Facies And Dental Anomalies |
|
Ataxia, Spasticity, Hypotonia |
OMIM:619228 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Ataxia, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizure, Bilat... |
OMIM:617831 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinsk... |
ORPHA:251282 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Paresthesia, Paroxysmal dyskinesia,... |
ORPHA:53583 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus |
ORPHA:308 |
Distal Hereditary Motor Neuropathy Type 5 |
|
First dorsal interossei muscle weakness, First dorsal interossei muscle atrophy, Thenar muscle we... |
ORPHA:139536 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Axonal degeneration, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Hand muscl... |
ORPHA:98856 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Dista... |
OMIM:605588 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Impaired proprioception, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramida... |
ORPHA:95434 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:118220 |
Triose Phosphate-Isomerase Deficiency |
|
Diaphragmatic paralysis, Skeletal muscle atrophy, Decreased nerve conduction velocity, Hypotonia |
ORPHA:868 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Intrinsic hand muscle atrophy, Progressive proximal muscle weakness, Limb-girdle muscle weakness,... |
ORPHA:98912 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... |
OMIM:613908 |
Benign Familial Infantile Epilepsy |
|
Status epilepticus, Focal motor seizure, Focal impaired awareness seizure, Generalized tonic seiz... |
ORPHA:306 |
Spinocerebellar Ataxia Type 28 |
|
Limb ataxia, Babinski sign, Rigidity, Parkinsonism, Head tremor, Kinetic tremor, Gait ataxia, Spa... |
ORPHA:101109 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
Dystonia 32 |
|
Torticollis, Laryngeal dystonia, Limb dystonia |
OMIM:619637 |
Spastic Paraplegia 17, Autosomal Dominant |
|
First dorsal interossei muscle weakness, Impaired vibration sensation in the lower limbs, Distal ... |
OMIM:270685 |
Autosomal Recessive Spastic Paraplegia Type 43 |
|
Flexion contracture of finger, Poor fine motor coordination, Spastic paraparesis, Distal muscle w... |
ORPHA:320370 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Kyphoscoliosis, Inability to walk by childhood/adolescence, Decreased sensory nerve conduction ve... |
OMIM:214400 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Dementia, Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Clumsiness, Infantile muscular hypotonia, Dysmetria, Intention tremor, Babinski sign, Nonprogress... |
ORPHA:453521 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia |
OMIM:616291 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... |
OMIM:601596 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Gait disturbance, Scoliosis, Steppage gait, Axonal degeneration |
OMIM:616155 |
Spinocerebellar Ataxia Type 5 |
|
Gait disturbance, Incoordination, Slurred speech |
ORPHA:98766 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Lingual dystonia, Motor tics, Babinski sign, Myoclonus, Chorea, Frequent falls, Ragged-red muscle... |
OMIM:500003 |
Spastic Ataxia 1, Autosomal Dominant |
|
Spastic paraplegia, Dystonia, Spastic ataxia, Gait disturbance |
OMIM:108600 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Compound muscle action potential amplitude facilitation, Distal muscle weakness, Foot dorsiflexor... |
OMIM:616040 |
Myopathy And Diabetes Mellitus |
|
Neonatal hypotonia, Progressive cerebellar ataxia, Progressive proximal muscle weakness, Weakness... |
ORPHA:2596 |
Spinocerebellar Ataxia 19 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... |
OMIM:607346 |
Spinocerebellar Ataxia Type 35 |
|
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... |
ORPHA:276193 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Apnea, Flexion contracture, Muscular dystrophy, Respiratory insufficiency, Rigidity, Respiratory ... |
OMIM:613869 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Hand muscle weakness, Intrinsic hand muscle atrophy, Demyelinating peripheral neuropathy, Spastic... |
ORPHA:101077 |
Merrf |
|
Ataxia, Generalized myoclonic seizure, Optic atrophy, Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Chronic axonal neuropathy, Peroneal muscle weakness, Hand muscle weakness, Distal upper limb musc... |
ORPHA:101097 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal... |
OMIM:614417 |
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:600176 |
Myopathy, Myofibrillar, 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... |
OMIM:608810 |
Charcot-Marie-Tooth Disease Type 4A |
|
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor co... |
ORPHA:99948 |
Spinocerebellar Ataxia Type 23 |
|
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... |
ORPHA:101108 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Babinski... |
OMIM:602433 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Myoclonus, Tremor, Bilateral tonic-clonic seizure, Seizure, Enhancement of the C-reflex |
OMIM:615127 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Inability to walk, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Distal ... |
ORPHA:99939 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, Myoclonus, Giant somatosensor... |
OMIM:613608 |
Developmental And Epileptic Encephalopathy 69 |
|
Status epilepticus, Cerebral cortical atrophy, Inability to walk, Myoclonus, Hyperkinetic movemen... |
OMIM:618285 |
Spastic Paraplegia 63, Autosomal Recessive |
|
Hypertonia, Impaired vibration sensation at ankles, Babinski sign, Spastic paraplegia, Gait distu... |
OMIM:615686 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait atax... |
ORPHA:423275 |
Spinocerebellar Ataxia Type 43 |
|
Decreased number of large peripheral myelinated nerve fibers, Progressive cerebellar ataxia, Dist... |
ORPHA:497764 |
Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Babinski sign, Dysmetria |
OMIM:612437 |
Developmental And Epileptic Encephalopathy 24 |
|
Status epilepticus, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age range of 3... |
OMIM:615871 |
Myotonia Congenita, Autosomal Dominant |
|
Myotonia with warm-up phenomenon, Percussion myotonia, Handgrip myotonia, Myotonia, EMG: myotonic... |
OMIM:160800 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... |
ORPHA:34515 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Babinski sign, Peripheral axonal neuropathy, Tremor, Spasticity, Muscle weakness |
OMIM:611105 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:300388 |
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Ataxia |
ORPHA:1180 |
Developmental And Epileptic Encephalopathy 37 |
|
Focal hemiclonic seizure, Cerebral atrophy, Myoclonus, Hyperkinetic movements, Rigidity, Chorea, ... |
OMIM:616981 |
Brody Disease |
|
Somatic sensory dysfunction, Fasciculations, Percussion myotonia, Myotonia |
OMIM:601003 |
Gne Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... |
ORPHA:602 |
Tibial Muscular Dystrophy |
|
Clumsiness, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps mus... |
ORPHA:609 |
Cerebellar Ataxia And Neurosensory Deafness |
|
Ataxia |
OMIM:212850 |
Spinocerebellar Ataxia 41 |
|
Ataxia, Unsteady gait |
OMIM:616410 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... |
OMIM:181350 |
Pontocerebellar Hypoplasia, Type 1E |
|
Myoclonus, Hypoplasia of the pons, Cerebellar hypoplasia, Optic atrophy, Elbow flexion contractur... |
OMIM:619303 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... |
ORPHA:314978 |
Developmental And Epileptic Encephalopathy 7 |
|
Spastic tetraparesis, Generalized hypotonia, Dystonia, Hypotonia |
OMIM:613720 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensory seizure... |
OMIM:615400 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Periodic paralysis, Myotonia |
OMIM:170400 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Distal amyotrophy, Tremor, Frequent falls, Gait ataxia... |
OMIM:611302 |
Alternating Hemiplegia Of Childhood 2 |
|
Hemiplegia, Ataxia, Episodic quadriplegia, Choreoathetosis, Dystonia, Tetraplegia |
OMIM:614820 |
Charcot-Marie-Tooth Disease Type 4G |
|
Motor conduction block, Demyelinating peripheral neuropathy, Distal upper limb muscle weakness, D... |
ORPHA:99953 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Distal muscle weakness, F... |
OMIM:606483 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Muscle weakness, Distal upper limb amyotrophy, Abnor... |
ORPHA:65684 |
Oculopharyngodistal Myopathy |
|
Abnormal morphology of musculature of pharynx, Abnormality of orbicularis oris muscle, Distal upp... |
ORPHA:98897 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Generalized myoclonic seizure, Progressive distal muscular atrophy, Myoclonus, Degeneration of an... |
OMIM:159950 |
Alternating Hemiplegia Of Childhood 1 |
|
Episodic quadriplegia, Episodic hemiplegia, Choreoathetosis, Dystonia, Tetraplegia |
OMIM:104290 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Ataxia, Skeletal muscle hypertrophy, Optic atrophy, Tremor, Muscle weakness, Abnorma... |
ORPHA:99014 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... |
OMIM:619177 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Tremor, Spasticity, Apraxia, Dystonia |
OMIM:615889 |
Roussy-Lévy Syndrome |
|
Clumsiness, Limb ataxia, Impaired vibratory sensation, Decreased motor nerve conduction velocity,... |
ORPHA:3115 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Broad-based gait, Appendicular hypotonia, Ataxia, Clumsiness, Dysmetria, Limb ataxia, Intention t... |
OMIM:616127 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Distal muscle weakness, Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular ... |
OMIM:601382 |
Female Restricted Epilepsy With Intellectual Disability |
|
Status epilepticus, Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Gene... |
ORPHA:101039 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
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Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... |
OMIM:601954 |
Laryngeal Abductor Paralysis |
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Paralysis |
OMIM:308850 |
Aicardi-Goutieres Syndrome 6 |
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Tremor, Loss of ambulation, Rigidity, Dystonia |
OMIM:615010 |
Corticobasal Syndrome |
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Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Parkinsonism, Or... |
ORPHA:454887 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
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Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, Generalized tonic sei... |
OMIM:607682 |
Klhl9-Related Early-Onset Distal Myopathy |
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Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Loss of ambulation, Abnormality o... |
ORPHA:399081 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
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Broad-based gait, Hypertonia, Bradykinesia, Limb hypertonia, Oculogyric crisis, Parkinsonism, Gen... |
OMIM:617384 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
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Respiratory insufficiency, Muscular dystrophy, Cardiomyopathy, Proximal amyotrophy |
OMIM:612999 |
Leukodystrophy, Hypomyelinating, 18 |
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Failure to thrive, Decreased nerve conduction velocity, Dysmetria, Babinski sign, Progressive spa... |
OMIM:618404 |
Charcot-Marie-Tooth Disease Type 1A |
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Gait imbalance, Spontaneous pain sensation, Diaphragmatic weakness, Sensory ataxia, Decreased sen... |
ORPHA:101081 |
Mitochondrial Myopathy With Diabetes |
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Ataxia, EMG: myopathic abnormalities, Babinski sign, Weakness of orbicularis oculi muscle, Ragged... |
OMIM:500002 |
Myasthenic Syndrome, Congenital, 5 |
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Decreased size of nerve terminals, Type 2 muscle fiber atrophy, Generalized hypotonia, Fatigable ... |
OMIM:603034 |
Parkinson Disease 19A, Juvenile-Onset |
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Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ... |
OMIM:615528 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
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Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Lowe... |
OMIM:616948 |
Amish Nemaline Myopathy |
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Hip contracture, Neonatal hypotonia, EMG: myopathic abnormalities, Type 1 muscle fiber predominan... |
ORPHA:98902 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
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Distal upper limb muscle weakness, Weakness of facial musculature, Foot dorsiflexor weakness, Wri... |
OMIM:619519 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
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Broad-based gait, Cerebral palsy, Dysdiadochokinesis |
OMIM:605388 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
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Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Atrophy/Degeneration affecting the brains... |
OMIM:619862 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
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Ataxia, Bradykinesia, Decreased nerve conduction velocity, Rigidity, Spasticity, Fasciculations |
OMIM:183050 |
Facioscapulohumeral Muscular Dystrophy 2, Digenic |
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Scapulohumeral muscular dystrophy, Scapular winging, Pelvic girdle muscle weakness, Foot dorsifle... |
OMIM:158901 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
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Calf muscle hypertrophy, Muscular dystrophy, Ventricular hypertrophy, Scapular winging, Proximal ... |
OMIM:601287 |
Parkinson Disease 22, Autosomal Dominant |
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Gait disturbance, Tremor, Bradykinesia, Resting tremor |
OMIM:616710 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
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Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculat... |
OMIM:619566 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
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Demyelinating motor neuropathy, Onion bulb formation, Distal amyotrophy, Spastic paraplegia, Demy... |
OMIM:182815 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Gait disturbance, Decrease... |
OMIM:604484 |
Spermatogenic Failure 65 |
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Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
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Hand muscle weakness, Distal muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Di... |
OMIM:607641 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
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Distal muscle weakness, Onion bulb formation, Decreased motor nerve conduction velocity, Peripher... |
OMIM:610100 |
Spastic Paraparesis And Deafness |
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Tremor, Hearing impairment, Spastic paraparesis |
OMIM:312910 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
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Paroxysmal dystonia, Focal hemifacial clonic seizure, Prolonged somatosensory evoked potentials, ... |
OMIM:608105 |
Charcot-Marie-Tooth Disease, Type 4H |
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Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Smal... |
OMIM:609311 |
Ceroid Lipofuscinosis, Neuronal, 2 |
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Ataxia, Cerebral atrophy, Myoclonus, Increased extraneuronal autofluorescent lipopigment, Increas... |
OMIM:204500 |
Myopathy, Distal, 5 |
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Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy |
OMIM:617030 |
Dystonia 11, Myoclonic |
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Torticollis, Myoclonus, Generalized hypotonia, Tremor, Writer's cramp, Hypotonia |
OMIM:159900 |
Adult Neuronal Ceroid Lipofuscinosis |
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Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Aplasia/Hypoplasia of the cerebellum, Tre... |
ORPHA:79262 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
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Ataxia, Spastic diplegia, Myoclonus, Increased variability in muscle fiber diameter, Babinski sig... |
OMIM:619065 |
Epilepsy, Nocturnal Frontal Lobe, 4 |
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Dystonia |
OMIM:610353 |
Blepharonasofacial Malformation Syndrome |
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Torsion dystonia |
OMIM:110050 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
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Temporal cortical atrophy, Loss of ambulation, Frontal cortical atrophy, Brain atrophy, Pelvic gi... |
OMIM:167320 |
Spinocerebellar Ataxia Type 20 |
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Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
Early-Onset X-Linked Optic Atrophy |
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Decreased nerve conduction velocity, Intention tremor, Dysdiadochokinesis, Babinski sign, Optic a... |
ORPHA:98890 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
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Spastic paraplegia, Tremor, Babinski sign, Gait disturbance |
OMIM:300660 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
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Ataxia, Neuronal loss in central nervous system, Cerebral atrophy, Myoclonus, Abnormal pyramidal ... |
OMIM:615924 |
Developmental And Epileptic Encephalopathy 67 |
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Generalized myoclonic seizure, Athetosis, Gait disturbance, Generalized non-motor (absence) seizu... |
OMIM:618141 |
Hydrocephalus, Congenital, 1 |
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Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
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Spastic tetraparesis, Ataxia |
OMIM:619061 |
Spinocerebellar Ataxia 45 |
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Ataxia, Gait ataxia, Limb ataxia |
OMIM:617769 |
Spastic Ataxia 5, Autosomal Recessive |
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Ataxia, Dysmetria, Generalized myoclonic seizure, Spastic paraparesis, Myoclonus, Dysdiadochokine... |
OMIM:614487 |
Ataxia-Oculomotor Apraxia 4 |
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Oculomotor apraxia, Ataxia, Dystonia, Tetraplegia |
OMIM:616267 |
Dandy-Walker Syndrome |
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Hydrocephalus, Dilated fourth ventricle, Truncal ataxia, Partial absence of cerebellar vermis, Ag... |
OMIM:220200 |
Scapuloperoneal Myopathy, X-Linked Dominant |
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Flexion contracture, Scapuloperoneal myopathy, Myofibrillar myopathy, Foot dorsiflexor weakness, ... |
OMIM:300695 |
Progressive Myoclonic Epilepsy With Dystonia |
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Status epilepticus, Hemiplegia, Diffuse cerebellar atrophy, Generalized myoclonic seizure, Myoclo... |
ORPHA:352596 |
Spermatogenic Failure 54 |
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Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Autosomal Spastic Paraplegia Type 72 |
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Impaired vibration sensation at ankles, Spastic gait, Postural tremor, Rigidity |
ORPHA:401849 |
Dystonia 7, Torsion |
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Torticollis, Oromandibular dystonia, Clumsiness, Blepharospasm, Hand tremor, Writer's cramp, Tors... |
OMIM:602124 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
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Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Intention tremor, Babinsk... |
ORPHA:284332 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
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Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Dist... |
OMIM:606482 |
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy |
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Muscular dystrophy, Gait ataxia |
OMIM:253590 |
Spastic Paraplegia 80, Autosomal Dominant |
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Bradykinesia, Limb ataxia, Babinski sign, Spastic paraplegia, Gait disturbance, Upper limb spasti... |
OMIM:618418 |
Myoclonic-Atonic Epilepsy |
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Eyelid myoclonus, Generalized non-motor (absence) seizure |
OMIM:616421 |
Parkinsonism With Spasticity, X-Linked |
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Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity |
OMIM:300911 |
Ceroid Lipofuscinosis, Neuronal, 5 |
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Ataxia, Clumsiness, Dysmetria, Dysdiadochokinesis, Myoclonus, Cerebellar atrophy, Seizure, Increa... |
OMIM:256731 |
Developmental And Epileptic Encephalopathy 92 |
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Ataxia, Inability to walk, Myoclonus, Difficulty walking, Spasticity, Dystonia |
OMIM:617829 |
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
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Progressive cerebellar ataxia, Dysmetria, Spastic dysarthria, Gait ataxia, Spasticity, Dystonia, ... |
ORPHA:314603 |
Nemaline Myopathy 6 |
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Gait disturbance, Nemaline bodies, Limb muscle weakness, Myopathy |
OMIM:609273 |
Tibial Muscular Dystrophy, Tardive |
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EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Atypical Juvenile Parkinsonism |
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Akinesia, Inability to walk, Bradykinesia, Brain atrophy, Resting tremor, Myoclonus, Abnormal pyr... |
ORPHA:391411 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
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Segmental peripheral demyelination/remyelination, Distal muscle weakness, Distal amyotrophy, Uppe... |
OMIM:607791 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
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Neonatal hypotonia, Gowers sign, Type 2 muscle fiber atrophy, Ophthalmoparesis, Decreased miniatu... |
OMIM:608930 |
Dpm3-Cdg |
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Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Babi... |
ORPHA:263494 |
Charcot-Marie-Tooth Disease Type 4D |
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Inability to walk, Distal upper limb muscle weakness, Distal muscle weakness, Decreased motor ner... |
ORPHA:99950 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
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Chronic axonal neuropathy, Distal muscle weakness, Decreased motor nerve conduction velocity, Foo... |
OMIM:606595 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
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Hypertonia, Clumsiness, Tetraparesis, Decreased number of peripheral myelinated nerve fibers, Mus... |
ORPHA:2386 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
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Distal muscle weakness, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, ... |
OMIM:613287 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
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Ataxia, Clumsiness, Dysmetria, Intention tremor, Generalized hypotonia, Gait ataxia, Spasticity, ... |
OMIM:608029 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
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Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... |
OMIM:618655 |
Myopathy, Scapulohumeroperoneal |
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Nemaline bodies, Centrally nucleated skeletal muscle fibers, Scapular winging, Increased variabil... |
OMIM:616852 |
Myoclonus-Dystonia Syndrome |
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Torticollis, Spinal myoclonus, Myoclonus, Limb myoclonus, Writer's cramp, Dystonia |
ORPHA:36899 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
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Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
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Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... |
ORPHA:521406 |
Neuronopathy, Distal Hereditary Motor, Type Iia |
|
Paralysis |
OMIM:158590 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
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Ataxia, Dysmetria, Limb ataxia, Generalized hypotonia, Tremor, Gait ataxia, Spasticity, Unsteady ... |
OMIM:213200 |
Epilepsy, Progressive Myoclonic, 6 |
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Ataxia, Atonic seizure, Loss of ambulation, Myoclonus, Myoclonic status epilepticus, Difficulty w... |
OMIM:614018 |
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
Muscular dystrophy, Ventricular septal hypertrophy, Proximal amyotrophy |
OMIM:612998 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
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Ataxia, Cerebral atrophy, Myoclonus, Bilateral tonic-clonic seizure, Increased neuronal autofluor... |
OMIM:204300 |
Huntington Disease-Like 2 |
|
Parkinsonism, Chorea, Gait disturbance, Involuntary movements, Dystonia |
ORPHA:98934 |
Caribbean Parkinsonism |
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Action tremor, Bradykinesia, Cerebral cortical atrophy, Abnormal autonomic nervous system physiol... |
ORPHA:97355 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
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Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... |
OMIM:607565 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology, Orthostatic hy... |
OMIM:252320 |
Optic Atrophy With Demyelinating Disease Of Cns |
|
Ataxia, Hemiparesis, Optic atrophy, CNS demyelination, Peripheral demyelination |
OMIM:165200 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Intention tremor, Ataxia, Action tremor, Neonatal hypotonia |
OMIM:302500 |
Spinocerebellar Ataxia 12 |
|
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... |
OMIM:604326 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Thigh hypertrophy, Left ventricular hypertrophy, Calf muscle hypertrophy, I... |
ORPHA:86812 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Impaired vibratory sensation, Rimmed vacuoles, Increased variability in muscle fiber diameter, Lo... |
OMIM:616924 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Difficulty walking, Dystonia, Axial hypotonia |
ORPHA:324588 |
Autosomal Recessive Spastic Paraplegia Type 21 |
|
Abnormal pyramidal sign, Lower limb muscle weakness, Gait disturbance, Difficulty walking, Spasti... |
ORPHA:101001 |
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration |
|
Ataxia |
OMIM:242520 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers, Distal muscle weakness, Decreased m... |
OMIM:615376 |
Neurodegeneration With Brain Iron Accumulation |
|
Abnormality of extrapyramidal motor function, Rigidity, Chorea, Spasticity, Dystonia |
ORPHA:385 |
Myopathy, Spheroid Body |
|
Broad-based gait, Tremor, Waddling gait, Skeletal muscle atrophy, Myopathy, Proximal amyotrophy |
OMIM:182920 |
Spinocerebellar Ataxia Type 30 |
|
Gait ataxia, Limb ataxia |
ORPHA:211017 |
Scapuloperoneal Myopathy, Myh7-Related |
|
EMG: myopathic abnormalities, Weakness of facial musculature, Scapuloperoneal myopathy, Myopathy |
OMIM:181430 |
Hereditary Myopathy With Early Respiratory Failure |
|
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... |
ORPHA:178464 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 |
|
Distal muscle weakness, Decreased motor nerve conduction velocity, Babinski sign, Foot dorsiflexo... |
OMIM:605726 |
Autosomal Recessive Spastic Paraplegia Type 27 |
|
Spastic paraplegia, Impaired vibration sensation at ankles, Dysdiadochokinesis, Babinski sign |
ORPHA:101007 |
Neuropathy, Hereditary Motor, With Myopathic Features |
|
Flexion contracture, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Lower... |
OMIM:619216 |
Dystonia 12 |
|
Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait, Dystonia |
OMIM:128235 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Myoclonus, Ataxia, Generalized myoclonic seizure, Seizure |
OMIM:208700 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Bradykinesia, Hemidystonia, Abnormal pyramidal sign, Spastic tetraparesis, Spastic gait |
OMIM:619052 |
Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Gait disturbance, Deposits immu... |
OMIM:605820 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Tremor, Optic disc pallor, Hearing impairment, Abnormality of extrapyramidal motor... |
OMIM:165300 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, Progressive proximal muscle weakness, EMG: myopathic abnormalities, Limb-girdle ... |
ORPHA:399058 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Distal muscle weakness, Distal amyotrophy, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607677 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Decreased number of large peripheral myelinated nerve fibers, Ataxia, Loss of ambulation, Limb at... |
OMIM:208920 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Gait disturbance, Tremor, Impaired pain sensation, Abnormal nerve conduction velocity |
ORPHA:101075 |
Intellectual Developmental Disorder, Autosomal Recessive 77 |
|
Head tremor, Unsteady gait |
OMIM:619988 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait |
OMIM:615768 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
Striatonigral Degeneration, Infantile |
|
Dystonia, Choreoathetosis, Spasticity |
OMIM:271930 |
Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Ataxia, Generalized hypotonia, Rigidity, Gait disturbance, Dystonia |
OMIM:618239 |
Continuous Spikes And Waves During Sleep |
|
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Atonic seizure, Focal hem... |
ORPHA:725 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Diaphragmatic weakness, Intrinsic hand muscle atrophy, Decreased size of nerve terminals, Type 2 ... |
OMIM:601462 |
Muscular Dystrophy, Congenital, Lmna-Related |
|
Failure to thrive, Flexion contracture, Congenital muscular dystrophy, Generalized amyotrophy, Re... |
OMIM:613205 |
Cataract-Ataxia-Deafness Syndrome |
|
Hypertonia, Ataxia, Decreased nerve conduction velocity, Tremor |
ORPHA:1368 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Ataxia, Abnormal cerebellum morphology, Babinski sign, Difficulty walking, Spasticity, Generalize... |
OMIM:618242 |
Choreoathetosis, Familial Inverted |
|
Gait disturbance, Rigidity, Abnormal pyramidal sign, Progressive choreoathetosis |
OMIM:118750 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis, Paroxysmal... |
OMIM:606777 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Kyphoscoliosis, Ataxia, Peripheral hypomyelination, Cerebral atrophy, Axonal degeneration, Hyperg... |
OMIM:604168 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Distal muscle weakness, Foot dorsiflexor weakness, Distal amyotrophy, Decreased number of periphe... |
OMIM:607731 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Calf muscle hypertrophy, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle w... |
OMIM:611307 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Dysmetria, Generalized hypotonia, Rigidity, Gait disturbance, Tremor |
OMIM:618090 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... |
OMIM:619733 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Ataxia, Dysmetria, Generalized myoclonic seizure, Spastic paraparesis, Myoclonus, Dysdiadochokine... |
ORPHA:313772 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... |
OMIM:608423 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
Epilepsy, Progressive Myoclonic, 9 |
|
Status epilepticus, Myoclonus, Gait ataxia, Seizure, Generalized amyotrophy |
OMIM:616540 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, Poor coordination, Chorea, Falls, Paroxysmal dyskinesia, Dystonia, Axia... |
OMIM:619150 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
Spinocerebellar Ataxia 23 |
|
Neuronal loss in central nervous system, Dysmetria, Impaired vibration sensation in the lower lim... |
OMIM:610245 |
Spastic Paraplegia 79, Autosomal Recessive |
|
Ataxia, Dysmetria, Intention tremor, Ankle clonus, Myotonia, Babinski sign, Head titubation, Spas... |
OMIM:615491 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Clumsiness, Atoni... |
ORPHA:2590 |
Muscular Dystrophy, Progressive Pectorodorsal |
|
Shoulder girdle muscle weakness, Muscular dystrophy, Scapular winging |
OMIM:310095 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkinsonism, Chorea, Dystonia |
OMIM:618317 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency |
|
Gait ataxia, Limb ataxia |
ORPHA:284282 |
Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:301840 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... |
OMIM:609115 |
Dyschromatosis Symmetrica Hereditaria |
|
Torsion dystonia |
ORPHA:41 |
Papilloma Of Choroid Plexus |
|
Hypertonia, Hydrocephalus, Hemiplegia/hemiparesis, Choroid plexus papilloma |
ORPHA:2807 |
Parkinson Disease 17 |
|
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor |
OMIM:614203 |
Spinocerebellar Ataxia Type 12 |
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Ataxia, Abnormal cerebellum morphology, Action tremor, Cerebral atrophy, Poor fine motor coordina... |
ORPHA:98762 |
Infantile Neuronal Ceroid Lipofuscinosis |
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Ataxia, Clumsiness, Cerebral cortical atrophy, Poor fine motor coordination, Dysmetria, Brain atr... |
ORPHA:79263 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
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Spastic gait, Gait ataxia, Limb ataxia |
OMIM:617133 |
Spermatogenic Failure 39 |
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Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Hydrocephalus, Autosomal Dominant |
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Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Spinocerebellar Ataxia 17 |
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Broad-based gait, Ataxia, Neuronal loss in central nervous system, Bradykinesia, Dysmetria, Limb ... |
OMIM:607136 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
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Failure to thrive, Ataxia, Inability to walk, Tetraparesis, Spasticity, Muscle weakness, Hypotoni... |
OMIM:618276 |
Spastic Paraplegia, Epilepsy, And Mental Retardation |
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Spastic paraplegia, Lower limb muscle weakness, Spastic paraparesis |
OMIM:182610 |
Bethlem Myopathy 1 |
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Torticollis, Camptodactyly of finger, Limb-girdle muscle weakness, Elbow flexion contracture, Con... |
OMIM:158810 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
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Muscular dystrophy, Limb-girdle muscle weakness, Cardiomyopathy, Flexion contracture |
OMIM:609308 |
Deafness, Autosomal Recessive 104 |
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Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Muscular Dystrophy, Mabry Type |
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Late-onset muscular dystrophy |
OMIM:310000 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
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