| Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
| Neuropathy, Hereditary Sensory, Atypical |
|
Babinski sign, Sensory ataxia, Ataxia |
OMIM:256860 |
| Mononeuropathy Of The Median Nerve, Mild |
|
Peripheral axonal neuropathy |
OMIM:613353 |
| Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
|
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity |
OMIM:162600 |
| Autosomal Dominant Focal Dystonia, Dyt25 Type |
|
Focal dystonia, Axial dystonia, Craniofacial dystonia, Limb dystonia, Laryngeal dystonia, Tortico... |
ORPHA:329466 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Peripheral demyelination, Onion bulb formation, Decreased nerve conduction velocity |
OMIM:608236 |
| Spinocerebellar Ataxia, X-Linked 2 |
|
Abnormality of extrapyramidal motor function, Ataxia |
OMIM:302600 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements, Involuntary movements, Chorea |
OMIM:616939 |
| Dystonia 25 |
|
Torticollis, Laryngeal dystonia, Lingual dystonia, Limb dystonia |
OMIM:615073 |
| Primary Dystonia, Dyt17 Type |
|
Torticollis, Craniofacial dystonia, Generalized dystonia |
ORPHA:370103 |
| Guillain-Barre Syndrome, Familial |
|
Acute demyelinating polyneuropathy |
OMIM:139393 |
| Tapetoretinal Degeneration With Ataxia |
|
Ataxia |
OMIM:272600 |
| Ataxia-Oculomotor Apraxia Type 1 |
|
Ataxia, Gait disturbance |
ORPHA:1168 |
| Posterior Column Ataxia |
|
Ataxia, Impaired proprioception, Impaired vibratory sensation |
OMIM:176250 |
| Dystonia 17, Torsion, Autosomal Recessive |
|
Torticollis, Focal dystonia |
OMIM:612406 |
| Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia |
|
Clumsiness, Episodic ataxia, Parkinsonism with favorable response to dopaminergic medication |
OMIM:168885 |
| Cerebellar Ataxia, Benign, With Thermoanalgesia |
|
Progressive cerebellar ataxia, Impaired temperature sensation |
OMIM:212890 |
| Episodic Ataxia Type 5 |
|
Truncal ataxia, Ataxia |
ORPHA:211067 |
| Primary Dystonia, Dyt27 Type |
|
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... |
ORPHA:464440 |
| Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
| Insensitivity To Pain With Hyperplastic Myelinopathy |
|
Abnormal peripheral myelination |
OMIM:147530 |
| Atonic-Astatic Syndrome Of Foerster |
|
Inability to walk, Ataxia, Abasia |
OMIM:209100 |
| Dystonia 6, Torsion |
|
Torsion dystonia, Limb dystonia, Laryngeal dystonia, Torticollis, Lingual dystonia, Writer's cram... |
OMIM:602629 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Segmental peripheral demyelination/remyelination, Myelin outfoldings, Onion bulb formation, Clust... |
OMIM:607734 |
| Dystonia 4, Torsion, Autosomal Dominant |
|
Torsion dystonia, Generalized dystonia, Slender build, Limb dystonia, Gait ataxia, Torticollis |
OMIM:128101 |
| Torsion Dystonia With Onset In Infancy |
|
Torsion dystonia |
OMIM:602554 |
| Dystonia, Focal, Task-Specific |
|
Writer's cramp |
OMIM:611284 |
| Spastic Ataxia With Congenital Miosis |
|
Hemiplegia/hemiparesis, Seizure, Ataxia, Spastic ataxia |
ORPHA:1182 |
| Ataxia With Fasciculations |
|
Fasciculations, Ataxia |
OMIM:108700 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Leukodystrophy, Peripheral demyelination |
DECIPHER:59 |
| Dystonia, Early-Onset, And/Or Spastic Paraplegia |
|
Laryngeal dystonia, Dystonia, Spastic paraplegia, Difficulty walking |
OMIM:619681 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb form... |
OMIM:606482 |
| Spinocerebellar Ataxia Type 4 |
|
Impaired proprioception, Impaired vibratory sensation, Impaired tactile sensation, Ataxia, Gait d... |
ORPHA:98765 |
| Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Demyelinating sensory neuropathy, Symmetrical progressive peripheral demyelination, Demyelinating... |
ORPHA:208981 |
| Dystonia With Cerebellar Atrophy |
|
Cerebellar atrophy, Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia, Torticollis |
OMIM:611694 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Ataxia, Slurred speech, Tremor |
OMIM:613227 |
| Dystonia 32 |
|
Torticollis, Laryngeal dystonia, Brain atrophy, Limb dystonia |
OMIM:619637 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Segmental peripheral demye... |
OMIM:601098 |
| Dystonia 27 |
|
Action tremor, Laryngeal dystonia, Postural tremor, Writer's cramp, Oromandibular dystonia |
OMIM:616411 |
| Dystonia 30 |
|
Dystonia, Loss of ability to walk, Leg dystonia, Diffuse cerebral atrophy, Torticollis, Writer's ... |
OMIM:619291 |
| Angelman syndrome (Type 2) |
|
Truncal ataxia, Seizure |
DECIPHER:54 |
| Angelman syndrome (Type 1) |
|
Truncal ataxia, Seizure |
DECIPHER:4 |
| Episodic Ataxia, Type 7 |
|
Episodic ataxia |
OMIM:611907 |
| Benign Paroxysmal Tonic Upgaze Of Childhood With Ataxia |
|
Episodic ataxia |
ORPHA:1179 |
| Neuhauser-Eichner-Opitz Syndrome |
|
Rigidity, Spasticity, Ataxia, Hypertonia |
ORPHA:2672 |
| Dystonia 33 |
|
Spasticity, Dystonia, Limb dystonia, Axial dystonia |
OMIM:619687 |
| Myoclonus, Familial, 1 |
|
Frequent falls, Falls, Ataxia, Myoclonus |
OMIM:614937 |
| Optic Atrophy With Demyelinating Disease Of Cns |
|
CNS demyelination, Peripheral demyelination, Optic atrophy |
OMIM:165200 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Foot dorsiflexor weakness, Segmental peripheral demyelination/remyelination, Onion bulb formation... |
OMIM:606483 |
| Optic Atrophy 2 |
|
Babinski sign, Dysdiadochokinesis, Tremor |
OMIM:311050 |
| Cerebellar Ataxia And Neurosensory Deafness |
|
Ataxia |
OMIM:212850 |
| Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Ataxia |
ORPHA:1180 |
| Primary Dystonia, Dyt21 Type |
|
Dystonia, Generalized dystonia, Focal dystonia, Axial dystonia, Blepharospasm, Limb dystonia, Lar... |
ORPHA:306734 |
| Paroxysmal Nonkinesigenic Dyskinesia 2 |
|
Paroxysmal dystonia |
OMIM:611147 |
| Anal Sphincter Dysplasia |
|
Encopresis, Constipation, Bowel incontinence, Chronic constipation, Diarrhea |
OMIM:105563 |
| Amyotrophic Dystonic Paraplegia |
|
Urinary incontinence, Bowel incontinence, Dystonia |
OMIM:105300 |
| Episodic Ataxia, Type 1 |
|
Incoordination, Spastic gait, Babinski sign, Episodic ataxia, Slurred speech, Tremor |
OMIM:160120 |
| Spinocerebellar Ataxia Type 23 |
|
Dysmetria, Impaired proprioception, Gait ataxia, Progressive cerebellar ataxia, Impaired distal v... |
ORPHA:101108 |
| Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination |
OMIM:250850 |
| Primary Dystonia, Dyt6 Type |
|
Dystonia, Generalized dystonia, Blepharospasm, Craniofacial dystonia, Limb dystonia, Laryngeal dy... |
ORPHA:98806 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Action tremor, Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onio... |
OMIM:180800 |
| Dystonia 23 |
|
Cerebellar atrophy, Axial dystonia, Head tremor, Limb dystonia, Cerebral cortical atrophy, Gait d... |
OMIM:614860 |
| Primary Dystonia, Dyt13 Type |
|
Torsion dystonia, Action tremor, Dystonia, Generalized dystonia, Focal dystonia, Craniofacial dys... |
ORPHA:98807 |
| Hinman Syndrome |
|
Constipation, Hydronephrosis, Enuresis, Recurrent urinary tract infections, Renal insufficiency, ... |
ORPHA:84085 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration, Upper limb mu... |
OMIM:607791 |
| Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Ataxia |
OMIM:618384 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Hand muscle atrophy, Shoulder girdle muscle atrophy, Proximal muscle weakness in lower limbs, Per... |
ORPHA:98856 |
| Spinocerebellar Ataxia 41 |
|
Ataxia, Unsteady gait |
OMIM:616410 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Peripheral axonal degeneration, Foot dorsiflexor weakness, Axonal degeneration, Steppage gait, Ax... |
OMIM:614436 |
| Paroxysmal Kinesigenic Dyskinesia |
|
Dystonia, Involuntary movements, Athetosis, Chorea, Writer's cramp |
ORPHA:98809 |
| Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Paroxysmal choreoathetosis, Paroxysmal dystonia, Torticollis |
OMIM:118800 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Episodic Kinesigenic Dyskinesia 1 |
|
Paroxysmal choreoathetosis, Paroxysmal dystonia |
OMIM:128200 |
| Spinocerebellar Ataxia 45 |
|
Gait ataxia, Limb ataxia, Ataxia |
OMIM:617769 |
| Striatonigral Degeneration, Infantile |
|
Failure to thrive, Spasticity, Dystonia, Choreoathetosis |
OMIM:271930 |
| Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration |
|
Ataxia |
OMIM:242520 |
| Striatonigral Degeneration, Childhood-Onset |
|
Dystonia, Loss of ability to walk, Craniofacial dystonia, Unsteady gait, Hypertonia |
OMIM:617054 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Peripheral demyelination, Skeletal muscle atrophy, Decreased number of large peripheral myelinate... |
OMIM:614895 |
| Spinocerebellar Ataxia Type 43 |
|
Foot dorsiflexor weakness, Cerebellar vermis atrophy, Decreased number of large peripheral myelin... |
ORPHA:497764 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Axonal regeneration, Onion bulb formation |
OMIM:615185 |
| Dystonia 15, Myoclonic |
|
Dystonia, Writer's cramp |
OMIM:607488 |
| Dystonia 31 |
|
Parkinsonism, Generalized dystonia, Leg dystonia, Craniofacial dystonia, Abnormal posturing, Diff... |
OMIM:619565 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Upper limb muscle weakness, Axonal degene... |
OMIM:607677 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Axonal loss, Proximal muscle weakness in upper limbs, Distal lowe... |
ORPHA:101097 |
| Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Demyelinating sensory neuropathy, Onion bulb formation, Demyelinating motor neuropathy |
OMIM:182815 |
| Spinocerebellar Ataxia Type 30 |
|
Gait ataxia, Limb ataxia |
ORPHA:211017 |
| Episodic Ataxia, Type 8 |
|
Episodic ataxia, Ataxia, Slurred speech, Intention tremor |
OMIM:616055 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Dystonia, Inability to walk, Athetosis, Ataxia, Abnormality of extrapyramidal motor function |
OMIM:615159 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Foot dorsiflexor weakness, Onion bulb formation, Decreased number of peripheral myelinated nerve ... |
OMIM:118210 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Foot dorsiflexor weakness, Decreased number of peripheral myelinated nerve fibers, Axonal regener... |
OMIM:607731 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
| Developmental And Epileptic Encephalopathy 38 |
|
Generalized hypotonia, Dystonia, Ataxia, Hypertonia |
OMIM:617020 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Abnormal cranial nerve morphology, Decreased number of large peri... |
OMIM:601596 |
| Cataract-Ataxia-Deafness-Retardation Syndrome |
|
Distal sensory impairment, Ataxia |
OMIM:212710 |
| Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency |
|
Gait ataxia, Limb ataxia |
ORPHA:284282 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
| Encephalopathy, Recurrent, Of Childhood |
|
Incoordination, Choreoathetosis, Intention tremor, Athetosis, Chorea, Truncal ataxia, Babinski sign |
OMIM:130950 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Urinary incontinence, Bowel incontinence |
OMIM:236690 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Distal sensory impairment, Foot dorsiflexor weakness, Onion bulb formation |
OMIM:616039 |
| Chronic Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Peripheral demyelination, Spontaneous pain sensation, Segmental peri... |
ORPHA:2932 |
| Cerebellar Ataxia And Albinism |
|
Albinism, Head tremor, Ataxia |
OMIM:258300 |
| Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Urinary urgency, Urinary incontinence, Abnormality of the autonomic nervous system |
OMIM:156310 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Torsion dystonia, Blepharospasm, Tremor, Limb dystonia, Torticollis, Writer's cramp, Oromandibula... |
OMIM:607671 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Spastic tetraparesis, Seizure, Ataxia |
OMIM:619061 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Dystonia, Ataxia, Spasticity, Neurodegeneration, Tremor |
OMIM:615889 |
| Blepharonasofacial Malformation Syndrome |
|
Torsion dystonia |
OMIM:110050 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Axonal loss, Peripheral demyelination, Dystonia, Skeletal muscle atrophy, Ataxia |
OMIM:616684 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Achilles tendon contracture, Peripheral axonal degeneration, Cerebellar atrophy, Dysmetria, Hand ... |
OMIM:302800 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Foot dorsiflexor weakness, Peripheral demyelination, Decreased number of large peripheral myelina... |
OMIM:608340 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Axonal loss, Cerebral atrophy, Cerebellar atrophy, Peripheral demyelination, Dystonia, Ataxia, Ri... |
OMIM:617672 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Peripheral axonal degeneration, CNS hypomyelination, Hypertrophic nerve changes, Axonal degenerat... |
OMIM:214400 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
|
Hand tremor, Somatic sensory dysfunction, Steppage gait |
OMIM:300905 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Ataxia, Tremor |
OMIM:213000 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Ataxia, Status epilepticus |
ORPHA:22 |
| Spinocerebellar Ataxia Type 41 |
|
Gait ataxia |
ORPHA:458798 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased amplitude of sensory acti... |
OMIM:608673 |
| Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Upslanted palpebral fissure, Skeletal muscle atrophy, Axonal dege... |
OMIM:162100 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Limb ataxia, Tremor |
OMIM:617018 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Foot dorsiflexor weakness, Flexion contracture, Onion bulb formation, Tremor, Decreased number of... |
OMIM:609260 |
| Cerebellar Ataxia, Cayman Type |
|
Intention tremor, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal ataxia, Broad-based gait |
ORPHA:94122 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Foot dorsiflexor weakness, Peripheral demyelination, Hypertrophic nerve changes, Myelin outfoldin... |
OMIM:118200 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Gait ataxia, Generalized hypotonia, Failure to thrive, Cachexia, Hypotonia, Weight loss |
OMIM:612075 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Axonal loss, Somatic sensory dysfunction, Diffuse peripheral demyelination, Peripheral demyelinat... |
ORPHA:206594 |
| Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Ataxia |
OMIM:136600 |
| X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Apraxia, Seizure, Ataxia |
ORPHA:85338 |
| Null Syndrome |
|
Progressive spastic paraplegia, Peripheral demyelination, CNS hypomyelination, Inability to walk,... |
ORPHA:280234 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia, Hypotonia |
ORPHA:1216 |
| Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Onion bulb formation, Generalized hypotonia, Dysesthesia, Distal lower limb muscle weakness, Acut... |
ORPHA:98916 |
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebral palsy, Broad-based gait, Dysdiadochokinesis |
OMIM:605388 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Foot dorsiflexor weakness, Hypertrophic nerve changes, Segmental peripheral demyelination/remyeli... |
OMIM:145900 |
| Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus |
OMIM:208700 |
| Epilepsy, Nocturnal Frontal Lobe, 4 |
|
Dystonia |
OMIM:610353 |
| Charcot-Marie-Tooth Disease, Type 4H |
|
Small thenar eminence, Small hypothenar eminence, Onion bulb formation, Decreased number of perip... |
OMIM:609311 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Foot dorsiflexor weakness, Skeletal muscle atrophy, Facial palsy, Increased variability in muscle... |
OMIM:617158 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Degeneration of anterior horn cells, Axonal degeneration, Decreased number of periph... |
OMIM:604484 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Athetosis, Gait disturbance, Rigid... |
OMIM:213600 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Foot dorsiflexor weakness, Hypertrophic nerve changes, Segmental peripheral demyelination/remyeli... |
OMIM:118220 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Gait disturbance, Abnormality ... |
OMIM:614561 |
| Ochoa Syndrome |
|
Constipation, Hydronephrosis, Urethral obstruction, Recurrent urinary tract infections, Renal ins... |
ORPHA:2704 |
| Autosomal Recessive Spastic Paraplegia Type 56 |
|
Spastic gait, Dystonia, Spastic paraplegia, Unsteady gait, Tip-toe gait |
ORPHA:320411 |
| Developmental And Epileptic Encephalopathy 7 |
|
Generalized hypotonia, Spastic tetraparesis, Dystonia, Hypotonia |
OMIM:613720 |
| Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Abnormal cranial nerve morphology, Onion bulb formation, Upper limb muscle weakness, Decreased mo... |
OMIM:605253 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Generalized dystonia, Cerebellar vermis atrophy, Inability to walk, Lower lim... |
OMIM:619389 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Small nail, Keloids, Hyperkeratotic papule, Atypical scarring of skin, Milia, Abnormal toenail mo... |
ORPHA:79410 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Ataxia, Progressive extrapyramidal movement disorder, Seizure, Myoclonus, Hypertonia |
OMIM:612736 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Lower limb amyotrophy, Distal lower limb muscle weakness, Peripheral demyelination, Impaired vibr... |
ORPHA:99953 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Foot dorsiflexor weakness, Onion bulb formation, Decreased number of peripheral myelinated nerve ... |
OMIM:605588 |
| Mitochondrial Myopathy With Diabetes |
|
Ragged-red muscle fibers, EMG: myopathic abnormalities, Proximal amyotrophy, Ataxia, Weakness of ... |
OMIM:500002 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Onion bulb formation |
OMIM:618279 |
| Autosomal Spastic Paraplegia Type 30 |
|
Progressive spastic paraplegia, Spastic gait, Somatic sensory dysfunction, Lower limb spasticity,... |
ORPHA:101010 |
| Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Spasticity, Impaired vibratory sensation, Tremor |
ORPHA:217012 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Ataxia, Chorea, Torticollis, Tremor |
OMIM:618425 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Diffuse axonal swelling, ... |
OMIM:602433 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebral atrophy, Cerebellar atrophy, Spasticity, Gliosis, Torticollis |
OMIM:618369 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Ataxia |
ORPHA:1397 |
| Pelizaeus-Merzbacher Disease, Classic Form |
|
Spastic tetraparesis, Abnormal pyramidal sign, Dystonia, Head tremor, Athetosis, Ataxia, Dystonic... |
ORPHA:280219 |
| Neurodegeneration With Brain Iron Accumulation |
|
Cerebellar atrophy, Dystonia, Rigidity, Spasticity, Chorea |
ORPHA:385 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Dystonia, Chorea |
OMIM:611031 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Segmental peripheral demyelination/remyelination, Hand muscle weakness, Hand paresthesia, Decreas... |
OMIM:162500 |
| Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum |
|
Spastic paraplegia, Dystonia, Tip-toe gait, Unsteady gait |
OMIM:615030 |
| Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Generalized hypotonia, Spasticity, Dystonia, Chorea |
OMIM:613970 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2 |
|
Rigidity, Dystonia, Sensory ataxia, Difficulty walking |
OMIM:619661 |
| Charcot-Marie-Tooth Disease, Type 4J |
|
Axonal loss, Distal arthrogryposis, Onion bulb formation, Ankle flexion contracture, Decreased ne... |
OMIM:611228 |
| Spinocerebellar Ataxia Type 15/16 |
|
Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, Upper limb postural t... |
ORPHA:98769 |
| Infantile Convulsions And Choreoathetosis |
|
Dystonia, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Athetosis, Chorea |
ORPHA:31709 |
| X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Abnormal pyramidal sign, Postural tremor, Difficulty walking |
ORPHA:85292 |
| Dyschromatosis Symmetrica Hereditaria |
|
Torsion dystonia |
ORPHA:41 |
| Developmental And Epileptic Encephalopathy 14 |
|
Generalized hypotonia, Cerebral cortical atrophy, Spasticity, Hypotonia, Gliosis, Neuronal loss i... |
OMIM:614959 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Neurodegeneration, Spastic paraparesis... |
OMIM:615157 |
| Spinocerebellar Ataxia 37 |
|
Frequent falls, Unsteady gait, Ataxia, Tremor |
OMIM:615945 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Ataxia |
OMIM:208750 |
| Oculocerebral Syndrome With Hypopigmentation |
|
Spasticity, Athetosis |
OMIM:257800 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Deeply set eye, Decreased body weight, Numerous pigmented freckles, Ataxia, Tremor |
OMIM:278760 |
| Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Somatic sensory dysfunction, Difficulty walking, Tremor |
ORPHA:423296 |
| Dystonia With Ringbinden |
|
Dystonia, Chorea, Gait disturbance |
OMIM:224550 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Cerebral atrophy, Dystonia, Rigidity, Gait disturbance, Tremor |
OMIM:600116 |
| Diaminopentanuria |
|
Spasticity, Ataxia, Neurodegeneration |
OMIM:222350 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Impaired distal tactile sensation, Onion bulb formation, Peripheral axonal neuropathy, Decreased ... |
OMIM:610100 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Spasticity, Ataxia, Tremor |
OMIM:611105 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:605285 |
| Spinocerebellar Ataxia 48 |
|
Dysmetria, Dystonia, Ataxia, Gait ataxia, Chorea, Cachexia, Tremor |
OMIM:618093 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Cerebellar atrophy, Dystonia, Choreoathetosis, Decreased number o... |
OMIM:208920 |
| Spastic Paraplegia 54, Autosomal Recessive |
|
Constipation, Optic nerve hypoplasia, Dysphagia, Urinary incontinence, Bowel incontinence |
OMIM:615033 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased varia... |
OMIM:618138 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Dystonia, Spastic tetraplegia, Neurodegeneration, Spastic paraparesis, Tip-toe gait, Rigidity, Ga... |
OMIM:615643 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Hand muscle atrophy, Peripheral demyelination, Skeletal muscle atrophy, Decreased nerve conductio... |
ORPHA:99944 |
| Dystonia 3, Torsion, X-Linked |
|
Torsion dystonia, Chorea, Tremor |
OMIM:314250 |
| Developmental And Epileptic Encephalopathy 32 |
|
Seizure, Ataxia, Myoclonus, Tremor |
OMIM:616366 |
| Gne Myopathy |
|
Lower limb amyotrophy, Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Lower... |
ORPHA:602 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Parkinsonism, Athetosis, Chorea, Motor tics |
OMIM:615483 |
| Spinocerebellar Ataxia 38 |
|
Gait ataxia, Limb ataxia, Ataxia |
OMIM:615957 |
| Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Dysmetria, Dystonia, Spastic dysarthria, Gait ataxia, Progressive cerebellar ataxia, Spasticity, ... |
ORPHA:314603 |
| Spinocerebellar Ataxia 20 |
|
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor |
OMIM:608687 |
| Spastic Paraplegia 13, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:605280 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Gait ataxia, Inability to walk, Deeply set eye |
OMIM:617915 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Foot dorsiflexor weakness, Axonal degeneration, Steppage gait, Distal sensory impairment, Gait di... |
OMIM:616155 |
| Ravine Syndrome |
|
Atrophy/Degeneration affecting the brainstem, Decreased body weight, Abnormal brainstem morpholog... |
ORPHA:99852 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Foot dorsiflexor weakness, Peripheral demyelination, Axonal degeneration/regeneration, Distal sen... |
OMIM:607736 |
| Developmental And Epileptic Encephalopathy 27 |
|
Dystonia, Generalized hypotonia, Spasticity, Chorea, Hypotonia |
OMIM:616139 |
| Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
|
Ataxia |
OMIM:158500 |
| Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive |
|
Peripheral demyelination, Gait ataxia, Distal sensory impairment, Distal upper limb amyotrophy, D... |
OMIM:258650 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Foot dorsiflexor weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber pr... |
OMIM:618655 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Ataxia, Generalized hypotonia, Cachexia, Hypotonia, Weight loss |
OMIM:613662 |
| Spinocerebellar Ataxia 31 |
|
Gait ataxia, Limb ataxia, Ataxia |
OMIM:117210 |
| Spinocerebellar Ataxia Type 2 |
|
Abnormal cortical gyration, Kinetic tremor, Abnormality of the spinocerebellar tracts, Dystonia, ... |
ORPHA:98756 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
| Lichtenstein-Knorr Syndrome |
|
Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia |
OMIM:616291 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Spastic tetraparesis, Peripheral demyelination, Decreased nerve conduction velocity, Gait ataxia,... |
OMIM:249900 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Axonal loss, Dystonia, Athetosis, Gliosis, Amyotrophic lateral sclerosis |
OMIM:300857 |
| Spinocerebellar Ataxia Type 17 |
|
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dystonia, Generalized cerebral ... |
ORPHA:98759 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Tremor |
ORPHA:494526 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Parkinsonism, Dystonia, Anxiety, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclo... |
ORPHA:401901 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Dysmetria, Atonic seizure, Generalized myoclonic seizure, Babinski sign, Tremor |
OMIM:612437 |
| Developmental And Epileptic Encephalopathy 17 |
|
Chorea, Dystonia, Athetosis |
OMIM:615473 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence, Tremor |
OMIM:600363 |
| Migraine, Familial Hemiplegic, 1 |
|
Anxiety, Ataxia, Hemiplegia, Hemiparesis, Tremor |
OMIM:141500 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Hyperkinetic movements, Tremor |
OMIM:616921 |
| Spinocerebellar Ataxia 11 |
|
Progressive cerebellar ataxia |
OMIM:604432 |
| Siddiqi Syndrome |
|
Urinary incontinence, Limb dystonia |
OMIM:618635 |
| Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Dystonia, Dysphagia, Urinary incontinence, Bowel incontinence, Optic atrophy |
OMIM:618868 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Spastic tetraparesis, Dystonia, Spastic gait, Hand muscle... |
OMIM:205100 |
| Spinocerebellar Ataxia 40 |
|
Dysmetria, Intention tremor, Spastic paraparesis, Unsteady gait, Dysdiadochokinesis, Broad-based ... |
OMIM:616053 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Tremor |
OMIM:617917 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Gait ataxia, Limb ataxia, Spastic gait |
OMIM:617133 |
| Spastic Paraplegia Type 7 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Spastic gait, Lower limb muscle weakness, Ragged... |
ORPHA:99013 |
| Darier Disease |
|
Abnormality of the nail, Abnormal hair morphology, Acrokeratosis, Plantar pits, Macule, Hypermela... |
ORPHA:218 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Violent behavior, Focal dystonia, Inertia,... |
ORPHA:216873 |
| Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements |
OMIM:257550 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Distal sensory impairment... |
OMIM:311070 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic gait, Dystonia, Impaired proprioception, Spastic dysarthria, Spastic parapleg... |
ORPHA:251282 |
| Salla Disease |
|
Spasticity, Inability to walk, Athetosis, Ataxia |
OMIM:604369 |
| Dystonia 28, Childhood-Onset |
|
Dystonia, Craniofacial dystonia, Gait disturbance, Laryngeal dystonia, Spasticity, Tip-toe gait, ... |
OMIM:617284 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Peripheral demyelination, Dystonia, Spastic tetraplegia, Flexion contracture, Generalized hypoton... |
OMIM:618237 |
| Hypotrichosis 4 |
|
Pili torti, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Alopecia, Sparse hair |
OMIM:146550 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Flexion contracture, Onion bulb formation, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607706 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Inability to walk, Ataxia |
OMIM:619333 |
| Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome |
|
Writer's cramp, Paroxysmal dystonia |
ORPHA:163727 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Ragged-red musc... |
ORPHA:457050 |
| Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Generalized hypotonia, Dystonia, Skeletal muscle atrophy, Hypertrichosis |
OMIM:618244 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Gait disturbance, Rigidity, Dystonia, Tremor |
OMIM:168100 |
| Alopecia Areata 2 |
|
Patchy alopecia, Alopecia of scalp, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Dystonia, Involuntary movements, Athetosis, Spasticity, Chorea, Hyperkinetic movements |
OMIM:617493 |
| Spastic Ataxia 1, Autosomal Dominant |
|
Dystonia, Spastic paraplegia, Spastic ataxia, Gait disturbance |
OMIM:108600 |
| Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
| Hypotrichosis Simplex |
|
Sparse eyebrow, Sparse body hair, Alopecia, Sparse eyelashes, Sparse scalp hair, Sparse hair |
ORPHA:55654 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Cerebral atrophy, Developmental cataract, Peripheral demyelinatio... |
OMIM:604168 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... |
OMIM:605407 |
| Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Truncal ataxia, Dysmetria, Ataxia |
OMIM:617584 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Generalized myoclonic seizure, Tremor, Ataxia, Gait ataxia, Generalized non-motor (absence) seizu... |
OMIM:617831 |
| Spinocerebellar Ataxia Type 40 |
|
Dysmetria, Intention tremor, Spastic paraparesis, Unsteady gait, Gait ataxia, Dysdiadochokinesis,... |
ORPHA:423275 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Abnormal sensory nerve conduction velocity, Intrinsic ha... |
ORPHA:276435 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Foot dorsiflexor weakness, Somatic sensory dysfunction, Axonal degeneration/regeneration, Decreas... |
OMIM:600882 |
| Spastic Paraplegia 19, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:607152 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Abnormal pyramidal sign, Dysmetria, Intention tremor, Lower limb spasticity, Ataxia, Unsteady gai... |
OMIM:616948 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Dermal atrophy, Hyperconvex fingernails, Papule, Myopathy, Alopecia, Hypoplastic fingernail, Apla... |
ORPHA:257 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Emotional lability, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonu... |
OMIM:615362 |
| Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Lower limb amyotrophy, Sensory axonal neuropathy, Somatic sensory dysfunction, Impaired vibratory... |
OMIM:616924 |
| Pelvic Organ Prolapse, Susceptibility To |
|
Bowel incontinence |
OMIM:176780 |
| Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Dysmetria, Action tremor, Axial dystonia, Head tremor, Progressive cerebellar... |
OMIM:604326 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal pyramidal sign, Somatic sensory dysfunction, Impaired proprioception, Fasciculations, Un... |
ORPHA:95434 |
| Huntington Disease-Like 2 |
|
Caudate atrophy, Dystonia, Cerebral cortical atrophy, Chorea, Gait disturbance |
ORPHA:98934 |
| Primary Dystonia, Dyt2 Type |
|
Torsion dystonia, Generalized dystonia, Blepharospasm, Limb dystonia, Torticollis, Difficulty wal... |
ORPHA:99657 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Deeply set eye, Slender build, Self-injurious behavior, Aggressive behavior, Myoclonus |
OMIM:300699 |
| Huntington Disease-Like 2 |
|
Action tremor, Dystonia, Rigidity, Chorea, Weight loss |
OMIM:606438 |
| Myopathy, Distal, 1 |
|
High palate, Amyotrophy of ankle musculature, Weakness of long finger extensor muscles, Ragged-re... |
OMIM:160500 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Dystonia, Skeletal muscle atrophy, Inability to walk, Ataxia, Generalized hyp... |
OMIM:618276 |
| Spastic Paraplegia 12, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:604805 |
| Krabbe Disease |
|
Peripheral demyelination, Neurodegeneration, Autoimmune thrombocytopenia, Decreased nerve conduct... |
OMIM:245200 |
| Autosomal Dominant Striatal Neurodegeneration |
|
Gait disturbance, Bradykinesia, Rigidity, Dysdiadochokinesis |
ORPHA:228169 |
| Nemaline Myopathy 2 |
|
Long philtrum, Increased variability in muscle fiber diameter, Limb muscle weakness, Arthrogrypos... |
OMIM:256030 |
| Dystonia 7, Torsion |
|
Torsion dystonia, Hand tremor, Blepharospasm, Torticollis, Writer's cramp, Oromandibular dystonia |
OMIM:602124 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Intention tremor, Ataxia, Limb ataxia, Morning myoclonic jerks, Myoclonus |
ORPHA:308 |
| Spinocerebellar Ataxia Type 35 |
|
Dysmetria, Intention tremor, Gait ataxia, Progressive cerebellar ataxia, Torticollis, Limb ataxia... |
ORPHA:276193 |
| Developmental And Epileptic Encephalopathy 43 |
|
Seizure, Ataxia |
OMIM:617113 |
| Epilepsy, Progressive Myoclonic 7 |
|
Seizure, Ataxia, Myoclonus, Tremor |
OMIM:616187 |
| Leukodystrophy And Acquired Microcephaly With Or Without Dystonia |
|
Leukodystrophy, Generalized hypotonia, Dystonia |
OMIM:616763 |
| Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence, Dystonia |
OMIM:607565 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Rigidity, Chorea, Torticollis, Hyp... |
ORPHA:98810 |
| Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Choreoathetosis, Ataxia, Generalized h... |
OMIM:618088 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Dystonia, Resting tremor, Centrally nucleated skeletal muscle fibers, Increased variability in mu... |
ORPHA:401768 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Global brain atrophy, Generalized amyotrophy, Abnormal mi... |
ORPHA:275872 |
| Autosomal Recessive Spastic Paraplegia Type 32 |
|
Progressive spastic paraplegia, Abnormal pons morphology, Cerebellar cortical atrophy, Impaired v... |
ORPHA:171622 |
| Pontocerebellar Hypoplasia, Type 2C |
|
Dystonia, Chorea |
OMIM:612390 |
| Alternating Hemiplegia Of Childhood 2 |
|
Choreoathetosis, Ataxia, Episodic quadriplegia, Tetraplegia, Hemiplegia, Seizure, Status epilepticus |
OMIM:614820 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Dystonia, Tremor |
OMIM:611092 |
| Leukodystrophy, Hypomyelinating, 14 |
|
Cerebral atrophy, Cerebellar atrophy, Dystonia, Generalized hypotonia, Spasticity |
OMIM:617899 |
| Alopecia Areata 1 |
|
Patchy alopecia, Trachyonychia, Nail pits, Alopecia universalis, Alopecia totalis |
OMIM:104000 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Hand tremor, Dystonia, Dysphagia, Urinary incontinence, Bowel incontinence, Optic atrophy |
ORPHA:289560 |
| Spinocerebellar Ataxia 28 |
|
Cerebellar atrophy, Dystonia, Gait ataxia, Spasticity, Limb ataxia, Hypertonia |
OMIM:610246 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Axonal loss, Cerebral atrophy, Peripheral demyelination, Caudate atrophy, Spasticity, Gait distur... |
OMIM:221770 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Abnormal head movements, Ataxia |
ORPHA:71518 |
| Huntington Disease-Like 3 |
|
Urinary incontinence, Bowel incontinence, Dystonia |
OMIM:604802 |
| Hypotrichosis 5 |
|
Absent pubic hair, Thin eyebrow, Sparse eyelashes, Alopecia, Absent axillary hair |
OMIM:612841 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Sparse scalp hair, Leuk... |
OMIM:613102 |
| Spastic Paraplegia Type 2 |
|
Bowel incontinence, Optic atrophy, Spastic/hyperactive bladder |
ORPHA:99015 |
| Myasthenic Syndrome, Congenital, 18 |
|
Flexion contracture, Ataxia, Ptosis, Difficulty walking |
OMIM:616330 |
| Spastic Ataxia 3, Autosomal Recessive |
|
Cerebellar atrophy, Dysmetria, Dystonia, Gait ataxia, Spasticity, Cerebral cortical atrophy, Spas... |
OMIM:611390 |
| Urocanase Deficiency |
|
Fair hair, Blue irides, Ataxia, Aggressive behavior, Tremor |
OMIM:276880 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Torsion dystonia, Dystonia, Choreoathetosis, Lower limb spasticity, Ataxia, Paresthesia, Chorea |
ORPHA:98811 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Muscle fiber hypertrophy, Foot dorsiflexor weakness, Skeletal muscle atrophy, Muscle fiber splitt... |
ORPHA:178464 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Pelvic girdle amyotrophy, Scapular winging, Dystonia, Shoulder girdle muscle atrophy, Temporal co... |
OMIM:167320 |
| Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Dysdiadochokinesis, Cogwheel rigidity, Gait disturbance, Limb dysmet... |
ORPHA:363710 |
| Dystonia 24 |
|
Torticollis, Blepharospasm, Head tremor, Oromandibular dystonia |
OMIM:615034 |
| Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Leukodystrophy, Peripheral axonal neuropathy, Dystonia, Ataxia |
OMIM:619196 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Inability to walk, Dystonia, Spastic tetraplegia |
OMIM:618646 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy, Spasticity, Ataxia, Tremor |
OMIM:614307 |
| Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Dermal atrophy, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia, Alope... |
OMIM:617294 |
| Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Seizure, Ataxia |
ORPHA:404493 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Foot dorsiflexor weakness, Axial muscle weakness, Limb-girdle muscle weakness, Increased variabil... |
ORPHA:399058 |
| Leukodystrophy, Hypomyelinating, 16 |
|
Dysmetria, Dystonia, Intention tremor, Gait ataxia, Generalized hypotonia, Broad-based gait, Hype... |
OMIM:617964 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Foot dorsiflexor weakness, Segmental peripheral demyelination/remyelination, Onion bulb formation... |
OMIM:604563 |
| Oculopharyngeal Muscular Dystrophy |
|
Gait disturbance, Facial palsy, Progressive ptosis, Limb muscle weakness |
OMIM:164300 |
| Huntington Disease |
|
Gliosis, Neuronal loss in central nervous system, Cerebellar atrophy, Rigidity |
OMIM:143100 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Spasticity, Babinski sign, Myoclon... |
OMIM:607317 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Impaired proprioception, Abnormal sensory nerve conduction velocity, Ataxia, Impaired vibration s... |
ORPHA:88628 |
| Spinocerebellar Ataxia 35 |
|
Incoordination, Dysmetria, Intention tremor, Ataxia, Torticollis, Babinski sign, Difficulty walking |
OMIM:613908 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Cerebral atrophy, Sensory axonal neuropathy, Dystonia, Choreoathetosis, Intention tremor, Spastic... |
OMIM:608804 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Spastic tetraparesis... |
OMIM:612319 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Frequent falls, Fasciculations, Gait ataxia, Spasticity, Head titubation, Babinski sig... |
OMIM:611302 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Somatic sensory dysfunction, Proximal lower limb amyotrophy, Proximal muscle weakness in lower li... |
OMIM:158600 |
| Developmental And Epileptic Encephalopathy 42 |
|
Hypertonia, Athetosis, Ataxia, Tremor |
OMIM:617106 |
| Spinal Muscular Atrophy, Jokela Type |
|
Distal sensory impairment, Difficulty walking, Fasciculations, Tremor |
OMIM:615048 |
| Spinocerebellar Ataxia Type 25 |
|
Spastic dysarthria, Decreased number of large peripheral myelinated nerve fibers, Facial myokymia... |
ORPHA:101111 |
| Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia |
|
Peripheral axonal degeneration, Orthostatic hypotension, Axonal degeneration, Decreased number of... |
OMIM:608720 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Abnormal pyramidal sign, Choreoathetosis, Ataxia, Chorea, Seizure, Myoclonus |
OMIM:125370 |
| Spastic Paraplegia 37, Autosomal Dominant |
|
Urinary urgency, Urinary incontinence |
OMIM:611945 |
| Nonaka Myopathy |
|
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Gait disturbance, ... |
OMIM:605820 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Inability to walk, Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, G... |
OMIM:615490 |
| Glut1 Deficiency Syndrome 2 |
|
Cerebral atrophy, Dystonia, Choreoathetosis, Ataxia, Tremor |
OMIM:612126 |
| Dystonia, Dopa-Responsive |
|
Dystonia, Resting tremor, Cogwheel rigidity, Gait ataxia, Impaired distal vibration sensation, Sp... |
OMIM:128230 |
| Spinocerebellar Ataxia 30 |
|
Ataxia |
OMIM:613371 |
| Spastic Paraplegia 8, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:603563 |
| Leukodystrophy, Hypomyelinating, 18 |
|
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Dystonia, Flexion co... |
OMIM:618404 |
| Autosomal Spastic Paraplegia Type 72 |
|
Rigidity, Spastic gait, Postural tremor, Impaired vibration sensation at ankles |
ORPHA:401849 |
| Tetanus |
|
Opisthotonus, Rigors, Autonomic bladder dysfunction, Elevated urinary epinephrine, Abnormal auton... |
ORPHA:3299 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Cerebral atrophy, Dystonia, Ataxia, Spasticity, Neuronal loss in central nervous system, Tremor |
OMIM:615924 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Dystonia, Ataxia, Craniofacial dystonia, Spasticity, Chorea, Gait disturbance |
OMIM:617282 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Atonic seizure, Ataxia, Difficulty walking, Generalized non-motor (absence) seizure, Seizure, Myo... |
OMIM:614018 |
| Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain |
|
Ataxia |
OMIM:260970 |
| Aicardi-Goutieres Syndrome 2 |
|
Cerebral atrophy, Dystonia, Spastic paraplegia |
OMIM:610181 |
| Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency |
|
Gait ataxia, Limb ataxia, Seizure |
ORPHA:404499 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Dystonia, Ataxia, Generalized hypotonia, Spasticity, Hypotonia |
OMIM:614458 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor |
ORPHA:2589 |
| Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Athetosis, Spasticity, Dystonia, Ataxia |
OMIM:612951 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Decreased nerve conduction velocity, Back pain, Myalgia, Urinary incontinence, Bowel incontinence... |
ORPHA:329478 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Progressive cerebellar ataxia, Failure to thrive, Spastic tetraparesis, Dystonia |
ORPHA:67046 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Peripheral axonal degeneration, Intrauterine growth retardation, Small for gestational age, Degen... |
OMIM:604320 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Truncal ataxia, Dysmetria, Unsteady gait, Tremor |
OMIM:616127 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Dystonia, Athetosis, Ataxia, Progressive extrapyramidal movement disorder, Chorea, Abnormality of... |
ORPHA:382 |
| Developmental And Epileptic Encephalopathy 67 |
|
Athetosis, Gait disturbance |
OMIM:618141 |
| Zebra Body Myopathy |
|
Nemaline bodies, Myofibrillar myopathy, Axial muscle weakness, Limb-girdle muscular dystrophy, Go... |
ORPHA:97240 |
| Intellectual Developmental Disorder, Autosomal Recessive 4 |
|
Delayed myelination |
OMIM:611107 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebral atrophy, Cerebellar atrophy, Dystonia, Tremor, Scissor gait, Loss of ambulation, Spastic... |
ORPHA:521406 |
| Dystonia 11, Myoclonic |
|
Generalized hypotonia, Hypotonia, Torticollis, Writer's cramp, Tremor |
OMIM:159900 |
| Spinocerebellar Ataxia 25 |
|
Cerebellar atrophy, Abolished vibration sense, Facial myokymia, Impaired pain sensation, Ataxia, ... |
OMIM:608703 |
| Cerebellar Ataxia And Ectodermal Dysplasia |
|
Sparse hair, Ataxia, Alopecia |
OMIM:212835 |
| Spastic Paraplegia 55, Autosomal Recessive |
|
Onion bulb formation, Spastic paraplegia, Steppage gait, Distal sensory impairment, Peripheral ax... |
OMIM:615035 |
| Perineural Cyst |
|
Abnormal large intestine physiology, Chest pain, Vulvodynia, Sciatica, Shoulder pain, Anal pain, ... |
ORPHA:65250 |
| Dravet Syndrome |
|
Myoclonic seizure, Abnormal pyramidal sign, Atonic seizure, Focal hemiclonic seizure, Visually-in... |
OMIM:607208 |
| Ataxia-Oculomotor Apraxia 4 |
|
Cerebellar atrophy, Dystonia, Ataxia |
OMIM:616267 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Cerebral atrophy, Abnormal lower motor neuron morphology, Paraparesis, Gliosis, Neuronal loss in ... |
OMIM:105550 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Decreased activity of mitochondrial complex I, Cerebral atrophy, Gowers sign, Ragged-red muscle f... |
OMIM:609560 |
| Spinocerebellar Ataxia 23 |
|
Dysmetria, Impaired vibration sensation in the lower limbs, Gait ataxia, Limb ataxia, Babinski si... |
OMIM:610245 |
| Spinocerebellar Ataxia Type 28 |
|
Kinetic tremor, Dystonia, Head tremor, Limb dystonia, Gait ataxia, Rigidity, Spasticity, Limb ataxia |
ORPHA:101109 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Axonal loss, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ne... |
OMIM:601455 |
| Wild Type Attr Amyloidosis |
|
Intermittent diarrhea, Nephrotic syndrome, Proteinuria, Autonomic bladder dysfunction, Gastrointe... |
ORPHA:330001 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Lower limb amyotrophy, Distal lower limb muscle weakness, Amyotrophy of ankle musculature, Foot d... |
ORPHA:90103 |
| Childhood Disintegrative Disorder |
|
Urinary incontinence, Bowel incontinence |
ORPHA:168782 |
| Neuromyelitis Optica Spectrum Disorder |
|
Neuronal loss in central nervous system, Somatic sensory dysfunction, Peripheral demyelination, M... |
ORPHA:71211 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Hand muscle atrophy, Foot dorsiflexor weakness, Axonal degeneration, Failure to thrive, Weakness ... |
OMIM:618811 |
| Episodic Ataxia Type 4 |
|
Incoordination, Frequent falls, Abnormal head movements, Ataxia |
ORPHA:79136 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Gait disturbance, Babinski sign, Spastic paraplegia, Tremor |
OMIM:300660 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Abnormal pyramidal sign, Frequent falls, Apraxia, Involuntary movements, Bradykinesia, Limb aprax... |
ORPHA:240103 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Ataxia, Gait ataxia, Spasticity, Limb ataxia, Babinski sign, Seizure |
OMIM:614322 |
| Autosomal Dominant Spastic Paraplegia Type 13 |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
ORPHA:100994 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Unsteady gait, Limb ataxia, Spasticity, Truncal ataxia, Babinski sign, Ankle clonus |
OMIM:615768 |
| Adult Krabbe Disease |
|
Abnormal pons morphology, Somatic sensory dysfunction, Peripheral demyelination, Impaired tactile... |
ORPHA:206448 |
| Myasthenic Syndrome, Congenital, 8 |
|
Facial palsy, Ptosis |
OMIM:615120 |
| Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Abnormal pyramidal sign, Isometric tremor, Intention tremor, Bradykinesia, Ataxia... |
ORPHA:101110 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 |
|
Dystonia, Spastic tetraplegia |
OMIM:251280 |
| Hypotrichosis 11 |
|
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Alopecia universalis, Absent axill... |
OMIM:615059 |
| Autosomal Spastic Paraplegia Type 58 |
|
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Peripheral demyelination, Intention tremor, Unst... |
ORPHA:397946 |
| Leber Optic Atrophy And Dystonia |
|
Dystonia, Bradykinesia, Athetosis, Upper motor neuron dysfunction, Spasticity |
OMIM:500001 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Vocal cord paralysis, Difficulty walking, Tremor |
OMIM:158580 |
| Alopecia Universalis |
|
Absent eyelashes, Alopecia universalis, Patchy alopecia, Absent eyebrow |
ORPHA:701 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber splitting, Abnormal peripheral nervous system morphology, Mus... |
OMIM:609524 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Dystonia, Inability to walk, Generalized hypotonia, Spasticity, Cerebral cortical atrophy |
OMIM:617820 |
| Myasthenic Syndrome, Congenital, 15 |
|
Difficulty walking, Multiple joint contractures, Ptosis |
OMIM:616227 |
| Spinocerebellar Ataxia 14 |
|
Cerebellar atrophy, Dysmetria, Focal dystonia, Gait ataxia, Progressive cerebellar ataxia, Impair... |
OMIM:605361 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebral atrophy, Cerebellar atrophy, Dystonia, Spastic paraparesis, Rigidity, Neurodegeneration,... |
OMIM:300894 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Deeply set eye, Ataxia, Intention tremor |
ORPHA:137831 |
| Inclusion Body Myositis |
|
Inflammatory myopathy, Skeletal muscle atrophy, Ragged-red muscle fibers, Quadriceps muscle weakn... |
ORPHA:611 |
| Nemaline Myopathy 4 |
|
High palate, Nemaline bodies, Scapular winging, Flexion contracture, Gowers sign, Skeletal muscle... |
OMIM:609285 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Ataxia, Generalized hypotonia, ... |
OMIM:617862 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Cerebral atrophy, Dystonia, Choreoathetosis, Inability to walk, Hypotonia |
OMIM:618497 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Impaired distal tactile sensation, Impaired distal vibration sensation, Decreased number of perip... |
OMIM:607080 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Centrally nucleated skeletal muscle fibers, Gowers sign, Shoulder girdle muscle atrophy, Waddling... |
OMIM:254110 |
| Huntington Disease-Like 3 |
|
Urinary incontinence, Bowel incontinence, Dystonia |
ORPHA:157946 |
| Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Parkinsonism, Ataxia, Abnormality of extrapyramidal motor function, Seizure, Myoclonus |
OMIM:162350 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Hypoplastic toenails, Sparse eyebrow, Sparse body hair, Alopecia, Sparse hair, Abnormal fingernai... |
ORPHA:2722 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Dowling-Degos Disease |
|
Epidermoid cyst, Digital pitting scar, Hypopigmented macule, Skin vesicle, Hyperpigmented papule,... |
ORPHA:79145 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Positive Romberg sign, Deeply set eye, Dysmetria, Dystonia, Intention tremor, Spastic dysarthria,... |
ORPHA:447896 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Small for gestational age, Bradykinesia, Ata... |
OMIM:261640 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Somatic sensory dysfunction, Decreased number of large peripheral myelinated nerve fibers, Decrea... |
OMIM:615376 |
| Muscular Dystrophy, Congenital, Merosin-Positive |
|
Flexion contracture, Congenital muscular dystrophy, Increased variability in muscle fiber diamete... |
OMIM:609456 |
| Spinocerebellar Ataxia 18 |
|
Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor |
OMIM:607458 |
| Neuronal Intranuclear Inclusion Disease |
|
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, Episodic ... |
OMIM:603472 |
| Spastic Paraplegia 36, Autosomal Dominant |
|
Urinary urgency, Urinary incontinence |
OMIM:613096 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Dysmetria, Tremor, Poor coordination, Spasticity, Clumsiness, Babinski sign, Spastic ataxia, Broa... |
OMIM:270500 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness, Proximal muscle weakness in l... |
OMIM:601954 |
| Spinocerebellar Ataxia Type 11 |
|
Progressive cerebellar ataxia, Gait imbalance, Dystonia, Difficulty walking |
ORPHA:98767 |
| Aicardi-Goutieres Syndrome 6 |
|
Loss of ability to walk, Rigidity, Dystonia, Tremor |
OMIM:615010 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Progressive spastic paraplegia, Deeply set eye, Dystonia, Obesity, Lower limb spasticity, Ataxia,... |
ORPHA:464282 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
|
Urinary incontinence, Postural tremor |
ORPHA:100988 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Frequent falls, Intention tremor, Spastic dysarthria, Unsteady gait, Nonprogressiv... |
ORPHA:314978 |
| Developmental And Epileptic Encephalopathy 37 |
|
Choreoathetosis, Rigidity, Spasticity, Hyperkinetic movements, Myoclonus |
OMIM:616981 |
| Pure Autonomic Failure |
|
Orthostatic hypotension, Dysuria, Constitutional symptom, Constipation, Abnormal autonomic nervou... |
ORPHA:441 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse axillary hair, Sparse scalp hair, Sparse pubic hair, Alopecia |
ORPHA:505 |
