| Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Somatic sens... |
ORPHA:454887 |
| Spinocerebellar Ataxia 17 |
|
Broad-based gait, Cerebellar atrophy, Chorea, Limb ataxia, Myoclonus, Gait ataxia, Dysmetria, Rig... |
OMIM:607136 |
| Atypical Juvenile Parkinsonism |
|
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to... |
ORPHA:391411 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Degeneration of the striatum, Hypokinesia, Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysd... |
OMIM:609161 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Paralysis, Gliosis, Dystonia, Athetosis, Dysphagia |
OMIM:300857 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Spasticity, Global brain atrophy, Shuffling gait, Somatic sensory dysfunction, Rigidity, Parkinso... |
OMIM:221820 |
| Huntington Disease |
|
Cerebellar atrophy, Chorea, Gait ataxia, Rigidity, Gliosis, Neuronal loss in central nervous syst... |
OMIM:143100 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Akinesia, Tremor, R... |
OMIM:300894 |
| Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Hypokinesia, Cerebral atrophy, Postural tremor, Limb dysmetria, Action tremor... |
ORPHA:98762 |
| Kufor-Rakeb Syndrome |
|
Spastic paraplegia, Spasticity, Hypokinesia, Akinesia, Myoclonus, Tremor, Rigidity, Distal sensor... |
OMIM:606693 |
| Dystonia 30 |
|
Arm dystonia, Leg dystonia, Diffuse cerebral atrophy, Aggressive behavior, Loss of ambulation, To... |
OMIM:619291 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Spastic paraparesis, Tip-toe gait, Neurodegeneration, Rigidity, Dystonia, Motor tics, Gait distur... |
OMIM:615643 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Resting tremor, Generalized hypotonia, Gait ataxia, Limb dystonia, Parkinsoni... |
ORPHA:71517 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:254110 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atrophy, Loss of ambulat... |
OMIM:604286 |
| Segawa Syndrome, Autosomal Recessive |
|
Hypokinesia, Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidi... |
OMIM:605407 |
| Tibial Muscular Dystrophy, Tardive |
|
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Steppage gait, Tibialis mu... |
OMIM:600334 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... |
OMIM:601954 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Fasciculations, Distal sensory impairment, Axonal degeneration, Gait disturbance, Te... |
OMIM:604484 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Cerebellar atrophy, Cerebral atrophy, Infantile axial hypotonia, Tremor, Ankle clonus... |
ORPHA:521406 |
| Dystonia 16 |
|
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Unsteady gait... |
ORPHA:210571 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Spastic paraplegia, Impaired vibratory sensation, Cerebral cortical atrophy, Cerebellar atrophy, ... |
OMIM:617225 |
| Dystonia, Dopa-Responsive |
|
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... |
OMIM:128230 |
| Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Bruxism, Tremor, Ank... |
OMIM:617435 |
| Autosomal Dominant Spastic Paraplegia Type 3 |
|
Hyperesthesia, Impaired vibratory sensation, Growth delay, Tip-toe gait, Ankle clonus, Rigidity, ... |
ORPHA:100984 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Blepharospasm, Spasticity, Laryngeal dystonia, Neurodegeneration, Chorea, Decreased circulating f... |
OMIM:606159 |
| Spinocerebellar Ataxia Type 20 |
|
Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Laryngeal dystonia, Gait ataxia, Ab... |
ORPHA:101110 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Oculogyric crisis, Hypokinesia, Generalized dystonia, Generalized hypotonia, Postural tremor, Hyp... |
ORPHA:101150 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Diminished movement, Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular r... |
ORPHA:240103 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Chorea, Dysmetria, Dystonia, Parkinsonism, Abnormal pyramidal sign, Ataxia, Hypoesthesia, Bradyki... |
OMIM:618317 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Cerebral cortical atrophy, Shuffling gait, Short stepped shuffling gait, Falls, Resting tremor, R... |
ORPHA:306692 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Hemidystonia, Spastic tetraparesis, Abnormal pyramidal sign, Spastic gait, Severe temper tantrums... |
OMIM:619052 |
| Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy |
|
Muscular dystrophy, Gait ataxia |
OMIM:253590 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Shuffling gait, Pill-rolling tremor, Resting tremor, Cerebral atrophy, Hypokinesia, Postural trem... |
OMIM:600116 |
| Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, ... |
ORPHA:98764 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Ankle flexion contracture, Muscular dystrophy, Difficulty walking, Limb-girdle muscle weakness, H... |
OMIM:613818 |
| Spinocerebellar Ataxia 21 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Akinesia, Abnor... |
OMIM:607454 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Tetraparesis, Cerebral atrophy, Abnormal lower motor neuron morpho... |
OMIM:105550 |
| Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Tip-toe g... |
OMIM:254130 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... |
OMIM:260300 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Myoclonus, Tremor, Rigidity, Diffuse cerebral atrophy, Babinski sign, Dystonia, ... |
ORPHA:314632 |
| Huntington Disease |
|
Degeneration of the striatum, Hypokinesia, Oral-pharyngeal dysphagia, Difficulty walking, Polypha... |
ORPHA:399 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Limb myoclonus, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Ga... |
OMIM:619862 |
| Juvenile Huntington Disease |
|
Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Oral motor hypotonia, Chorea, My... |
ORPHA:248111 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Frequent falls, Gait imbalance, Gait a... |
OMIM:618369 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Generalized hypotonia, Incoordination, Cerebellar vermis atrophy, Hypotonia, Limb ata... |
OMIM:213200 |
| Dystonia With Cerebellar Atrophy |
|
Cerebellar atrophy, Craniofacial dystonia, Torticollis, Dystonia, Dysphagia, Progressive cerebell... |
OMIM:611694 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Ankle flexion contracture, Muscular dystrophy, Tip-toe gait, Lower limb muscle weakness, Scapular... |
ORPHA:267 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Spasticity, Amyotrophic lateral sclerosis, Difficulty walking, Abnormal exteroceptive sensation, ... |
OMIM:205100 |
| Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Cerebellar atrophy, Hypotonia, Gait ataxia, Dystonia, Ataxia, Truncal ataxia, B... |
OMIM:601238 |
| Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Broad-based gait, Oculogyric crisis, Generalized hypotonia, Dystonia, Attention deficit hyperacti... |
OMIM:617384 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Cerebellar atrophy, Falls, Cerebral atrophy, Action tremor, Rigidity, Babinski sign, ... |
OMIM:300423 |
| Parkinson Disease 17 |
|
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:614203 |
| Dystonia 12 |
|
Tremor, Dystonia, Parkinsonism, Torticollis, Unsteady gait, Bradykinesia, Dysphagia |
OMIM:128235 |
| Amyotrophic Lateral Sclerosis 1 |
|
Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Pseudobulbar paralysis, Degeneration o... |
OMIM:105400 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Spasticity, Amyotrophic lateral sclerosis, Tetraparesis, Fasciculations, Difficulty walking, Ankl... |
OMIM:613954 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Akinesia, Freezing of gait, Rigidity, Dystonia, Clumsiness, Park... |
OMIM:619911 |
| Sandhoff Disease, Adult Form |
|
Spasticity, Fasciculations, Gait ataxia, Tremor, Elevated circulating creatine kinase concentrati... |
ORPHA:309169 |
| Hypermanganesemia With Dystonia 2 |
|
Spasticity, Hypokinesia, Limb dystonia, Opisthotonus, Parkinsonism, Bradykinesia, Tip-toe gait, C... |
OMIM:617013 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Generalized hypotonia, Difficulty walking, Tremor, Hemiparesis, Dystonia, Cerebral cortical hemia... |
ORPHA:306669 |
| Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction |
|
Spasticity, Cerebellar atrophy, Cerebral atrophy, Dystonia, Gait disturbance, Short stature, Spas... |
OMIM:620515 |
| Autosomal Dominant Focal Dystonia, Dyt25 Type |
|
Laryngeal dystonia, Limb dystonia, Axial dystonia, Craniofacial dystonia, Lingual dystonia, Torti... |
ORPHA:329466 |
| Dystonia 4, Torsion, Autosomal Dominant |
|
Hemidystonia, Generalized dystonia, Gait ataxia, Limb dystonia, Torticollis, Torsion dystonia, Dy... |
OMIM:128101 |
| Infantile Dystonia-Parkinsonism |
|
Oculogyric crisis, Hypokinesia, Cerebral palsy, Chorea, Dystonia, Parkinsonism, Abnormal pyramida... |
ORPHA:238455 |
| Spinocerebellar Ataxia Type 21 |
|
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor fun... |
ORPHA:98773 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Neuronal loss in central nervous system, Gait disturbance, Amyotrophic lateral sclerosis, Fascicu... |
OMIM:608030 |
| Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Gait disturbance, Bradykinesia, Dysphagia, Dysdiadochokinesis |
ORPHA:228169 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Gait apraxia... |
OMIM:615157 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Neuromuscular dysphagia, Falls, Progressive extrapyramidal muscular rigidity, Akin... |
ORPHA:240071 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Loss of ambulation, Facial ... |
OMIM:603511 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, EMG:... |
OMIM:253601 |
| Supranuclear Palsy, Progressive, 1 |
|
Falls, Cerebral atrophy, Akinesia, Astrocytosis, Retrocollis, Gait imbalance, Tremor, Rigidity, L... |
OMIM:601104 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Cerebral cortical atrophy, Inappropriate behavior, Astrocytosis, Myoclonus, Disinhibition, Rigidi... |
OMIM:600795 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Disin... |
ORPHA:275872 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Loss of ambulation, Lower limb spasticity, Amyotrophic lateral sclerosis |
OMIM:614373 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Oculogyric crisis, Falls, Chorea, Hypotonia, Myoclonus, Rigidity, Hyperkinetic movements, Opistho... |
ORPHA:13 |
| Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum |
|
Growth delay, Cogwheel rigidity, Babinski sign, Attention deficit hyperactivity disorder, Hyperto... |
OMIM:618284 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... |
OMIM:614561 |
| Manganese Poisoning |
|
Inappropriate laughter, Postural tremor, Cogwheel rigidity, Akinesia, Abnormality of extrapyramid... |
ORPHA:306682 |
| Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Muscular dystrophy, Tip-toe gait, Scapular winging, Achilles tendon contracture, Calf muscle pseu... |
ORPHA:62 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Muscular dystrophy, Shoulder girdle muscle weakness, Reduced muscle fiber alpha dystroglycan, Abn... |
ORPHA:34515 |
| Dystonia 23 |
|
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Myoclonus, Limb dystonia, Axial dysto... |
OMIM:614860 |
| Huntington Disease-Like 1 |
|
Cerebral cortical atrophy, Involuntary movements, Cerebellar atrophy, Hypokinesia, Generalized hy... |
ORPHA:157941 |
| Parkinson Disease 1, Autosomal Dominant |
|
Shuffling gait, Global brain atrophy, Resting tremor, Hypokinesia, Myoclonus, Rigidity, Loss of a... |
OMIM:168601 |
| Spastic Paraplegia 80, Autosomal Dominant |
|
Spastic paraplegia, Limb ataxia, Dystonia, Babinski sign, Lower limb spasticity, Gait disturbance... |
OMIM:618418 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Spasticity, Amyotrophic lateral sclerosis, Hippocampal atrophy, Tetraparesis, Caudate atrophy, Dy... |
OMIM:617892 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Short stepped shuffling gait, Shuffling gait, Frontotemporal cerebral atrophy, Falls, Inappropria... |
ORPHA:412066 |
| Machado-Joseph Disease |
|
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Spinocerebellar tract degeneration,... |
OMIM:109150 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Generalized dystonia, Limb ataxia, Limb dystonia, Rigidity, Babinski sign, Parkinsonism, Hyperton... |
OMIM:618824 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Muscular dystrophy, Difficulty walking, Proximal amyotrophy, Calf muscle hypertrophy, Scapular wi... |
OMIM:601287 |
| Developmental And Epileptic Encephalopathy 37 |
|
Spasticity, Cerebellar atrophy, Hypokinesia, Cerebral atrophy, Chorea, Hypotonia, Cogwheel rigidi... |
OMIM:616981 |
| Developmental And Epileptic Encephalopathy 14 |
|
Cerebral cortical atrophy, Spasticity, Generalized hypotonia, Hypotonia, Clonus, Tetraplegia, Gli... |
OMIM:614959 |
| Hereditary Late-Onset Parkinson Disease |
|
Cerebral cortical atrophy, Shuffling gait, Resting tremor, Frequent falls, Akinesia, Agitation, R... |
ORPHA:411602 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Spasticity, Amyotrophic lateral sclerosis, Disinhibition, Babinski sign, Dysphagia, Motor stereotypy |
OMIM:612069 |
| Primary Dystonia, Dyt13 Type |
|
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... |
ORPHA:98807 |
| Dystonia 22, Adult-Onset |
|
Upper limb postural tremor, Retrocollis, Babinski sign, Gait disturbance, Torticollis, Focal dyst... |
OMIM:620456 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Hand tremor, Hypotonia, Recurren... |
OMIM:617862 |
| Dystonia 16 |
|
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Retrocollis, Li... |
OMIM:612067 |
| Amyotrophic Lateral Sclerosis 18 |
|
Spasticity, Dysphagia, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:614808 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Spasticity, Shuffling gait, Pill-rolling tremor, Rigidity, Loss of ambulation, Dystonia, Parkinso... |
OMIM:615528 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Spasticity, Gait ataxia, Rigidity, Clumsiness, Hyperactivity, Dystonia, Dysphagia, Impulsivity |
OMIM:620448 |
| Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development |
|
Resting tremor, Restless legs, Rigidity, Disinhibition, Parkinsonism with favorable response to d... |
OMIM:620482 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue fasciculations, Amyotrophic lateral sclerosis, Fasciculations, Loss of ambulation, Dysphagia |
OMIM:613435 |
| Caribbean Parkinsonism |
|
Cerebral cortical atrophy, Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia,... |
ORPHA:97355 |
| Dystonia 32 |
|
Laryngeal dystonia, Limb dystonia, Torticollis, Dysphagia, Brain atrophy |
OMIM:619637 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal muscle weakness in u... |
OMIM:619566 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ataxia, Myoclonus, Impaired propri... |
ORPHA:95434 |
| Spastic Paraplegia Type 7 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Lower limb muscle weakness, Upper limb muscle we... |
ORPHA:99013 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tongue fasciculations, Frequent falls, Difficulty walking, Myoclonus, Tremor, Elevated circulatin... |
OMIM:159950 |
| Myopathy, Distal, 3 |
|
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Steppage g... |
OMIM:610099 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Tremor, Rigidity, Dystonia, Aggressive... |
ORPHA:329284 |
| Striatonigral Degeneration, Childhood-Onset |
|
Hypotonia, Elevated circulating creatine kinase concentration, Loss of ambulation, Ankle clonus, ... |
OMIM:617054 |
| Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia |
OMIM:300911 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Fasciculations, Disinhibition, Abnormal... |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Fasciculations, Disinhibition, Abnormal... |
OMIM:616437 |
| X-Linked Dystonia-Parkinsonism |
|
Blepharospasm, Shuffling gait, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand... |
ORPHA:53351 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Gait d... |
OMIM:213600 |
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Cerebral atrophy, Myoclonus, Distal sensory impairment, Abnormality of extrapyramidal motor funct... |
OMIM:604218 |
| Myoclonus-Dystonia Syndrome |
|
Limb myoclonus, Myoclonus, Torticollis, Spinal myoclonus, Compulsive behaviors, Dystonia, Writer'... |
ORPHA:36899 |
| Glut1 Deficiency Syndrome 1 |
|
Paroxysmal lethargy, Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Para... |
OMIM:606777 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Generalized hypotonia, Tremor, Rigidity, Dystonia, Ataxia, Short stature, Bradykinesia |
OMIM:617836 |
| Postencephalitic Parkinsonism |
|
Involuntary movements, Oculogyric crisis, Resting tremor, Akinesia, Paresthesia, Cogwheel rigidit... |
ORPHA:97349 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hyperkinetic movem... |
OMIM:613135 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Difficulty walking, Distal sensory impairment, Paralysis, Lethargy, Distal muscle weakness, Muscl... |
OMIM:613710 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Muscular dystrophy, Elbow flexion contracture, Loss of ambulation, Gait disturbance, Joint contra... |
OMIM:616516 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 3 |
|
Spasticity, Limb ataxia, Rigidity, Loss of ambulation, Clumsiness, Lower limb spasticity, Dystoni... |
OMIM:620447 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Cerebral atrophy, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Hyperacti... |
OMIM:615924 |
| Supranuclear Palsy, Progressive, 2 |
|
Falls, Postural tremor, Gait imbalance, Retrocollis, Akinesia, Axial dystonia, Rigidity, Parkinso... |
OMIM:609454 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Arm dystonia, Tip-toe gait, Amyotrophic lateral sclerosis, Difficulty walking, Inability to walk,... |
ORPHA:300605 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia |
OMIM:183050 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Tongue fasciculations, Cerebral cortical atrophy, Hand tremor, Fasciculations, Hypotonia, Limb at... |
OMIM:607596 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Attention deficit hyperactivity d... |
OMIM:619725 |
| Spastic Paraplegia 62, Autosomal Recessive |
|
Spasticity, Tip-toe gait, Fasciculations, Difficulty walking, Ankle clonus, Hoffmann sign, Babins... |
OMIM:615681 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Muscular dystrophy, Lower limb muscle weakness, Difficulty walking, Myositis, Proximal amyotrophy... |
OMIM:253600 |
| Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Restless legs, Rigidity, Parkinsonism with favorable response to dopaminergic med... |
OMIM:616710 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor ne... |
ORPHA:401901 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Muscular dystrophy, Difficulty walking, Limb-girdle muscle weakness, Hypoglycosylation of alpha-d... |
OMIM:609308 |
| Spinocerebellar Ataxia 2 |
|
Spasticity, Action tremor, Parkinsonism, Ataxia, Unsteady gait, Bradykinesia, Dysphagia, Progress... |
OMIM:183090 |
| Dystonia 33 |
|
Spasticity, Limb dystonia, Axial dystonia, Babinski sign, Dystonia, Axial hypotonia |
OMIM:619687 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower motor neuron morphology... |
OMIM:602099 |
| Perry Syndrome |
|
Short stepped shuffling gait, Inappropriate behavior, Akinesia, Tremor, Rigidity, Disinhibition, ... |
OMIM:168605 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Blepharospasm, Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, L... |
ORPHA:240094 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Spasticity, Cerebral atrophy, Astrocytosis, Myoclonus, Abnormality of extrapyramidal motor functi... |
ORPHA:204 |
| Dystonia 6, Torsion |
|
Laryngeal dystonia, Limb dystonia, Myoclonus, Lingual dystonia, Torticollis, Writer's cramp, Tors... |
OMIM:602629 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Cerebellar atrophy, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Ab... |
OMIM:607317 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Amyotrophic lateral sclerosis, Cerebral atrophy, Abnormal lower motor neuron morphology, Paralysi... |
OMIM:105500 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Spasticity, Chorea, Abnormal erythrocyte morphology, Myoclonus, Hemiparesis, Paralysis, Apraxia, ... |
ORPHA:71277 |
| Phosphoserine Phosphatase Deficiency |
|
Cerebral atrophy, Postnatal growth retardation, Intrauterine growth retardation, Hypertonia |
OMIM:614023 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Spasticity, Tetraparesis, Frequent falls, Astrocytosis, Cogwheel rigidity, Myoclonus, Gait ataxia... |
ORPHA:225154 |
| Huntington Disease-Like 2 |
|
Cerebral cortical atrophy, Chorea, Action tremor, Rigidity, Dystonia, Bradykinesia |
OMIM:606438 |
| Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Fasciculations |
ORPHA:65684 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Increased mitoc... |
ORPHA:457050 |
| Spinal Muscular Atrophy, Type Iii |
|
Tongue fasciculations, Hand tremor, Limb fasciculations, Loss of ambulation, Degeneration of ante... |
OMIM:253400 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Self-injurious behavior, Spasticity, Oculogyric crisis, Cerebellar atrophy, Cerebral atrophy, Ina... |
OMIM:614254 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Spasticity, Neurodegeneration, Obsessive-compulsive trait, Parkinsonism, Abnormal pyramidal sign,... |
OMIM:234200 |
| Dystonia, Early-Onset, And/Or Spastic Paraplegia |
|
Difficulty walking, Spastic paraplegia, Dystonia, Laryngeal dystonia |
OMIM:619681 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia, Axial hypotonia |
OMIM:618425 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Limb-girdle muscular dystrophy, Muscular dystrophy, Difficulty walking, Chorea, Muscle fiber atro... |
ORPHA:369840 |
| Neuroferritinopathy |
|
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Chorea, L... |
ORPHA:157846 |
| Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Inappropriate laughter, Disinhibition, Polyphagia, Parkinsonism, N... |
OMIM:600274 |
| Huntington Disease-Like 2 |
|
Cerebral cortical atrophy, Involuntary movements, Chorea, Caudate atrophy, Parkinsonism, Gait dis... |
ORPHA:98934 |
| Developmental And Epileptic Encephalopathy 69 |
|
Cerebral cortical atrophy, Inability to walk, Myoclonus, Hyperkinetic movements, Corpus callosum ... |
OMIM:618285 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Neuromuscular dysphagia, Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response ... |
ORPHA:240085 |
| Inherited Creutzfeldt-Jakob Disease |
|
Global brain atrophy, Central nervous system degeneration, Progressive extrapyramidal muscular ri... |
ORPHA:282166 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Spasticity, Broad-based gait, Hypokinesia, Inability to walk, Hypotonia, Myoclonus, Pontocerebell... |
OMIM:617854 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Cerebral cortical atrophy, Spasticity, Involuntary movements, Inability ... |
OMIM:617820 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Depression, Difficulty walking, Slender build, Decreased mitochondrial number, Progressive extern... |
ORPHA:352470 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Dystonia, Paroxysma... |
ORPHA:98810 |
| Facioscapulohumeral Muscular Dystrophy 2, Digenic |
|
Scapulohumeral muscular dystrophy, Foot dorsiflexor weakness, Facial palsy, Scapular winging, Pel... |
OMIM:158901 |
| Spinocerebellar Ataxia Type 1 |
|
Progressive cerebellar ataxia, Cerebellar atrophy, Fasciculations, Generalized hypotonia, Chorea,... |
ORPHA:98755 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Spasticity, Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba... |
ORPHA:247234 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Shuffling gait, Cerebellar atrophy, Cerebral atrophy, Paresthesia, Cogwheel rigidity, Action trem... |
ORPHA:254886 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Spasticity, Inappropriate behavior, Cerebral atrophy, Abnormal upper motor neuron morphology, Myo... |
OMIM:221770 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia |
OMIM:605909 |
| Machado-Joseph Disease Type 3 |
|
Spasticity, Degeneration of the striatum, Cerebellar atrophy, Spinocerebellar tract degeneration,... |
ORPHA:276244 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Muscular dystrophy, Shoulder girdle muscle weakness, Quadriceps muscle atrophy, Calf muscle hyper... |
OMIM:611307 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Falls, Bruxism, Inappropriate laughter, Chorea, Dystonia, Aggressive behavior, Paroxysmal dyskine... |
OMIM:619150 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Muscle weakness, Tremor, Slurred speech |
ORPHA:401953 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Global brain atrophy, Growth delay, Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinet... |
OMIM:619738 |
| Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Spasticity, Cerebellar atrophy, Cerebral atrophy, Hypotonia, Positive Romberg sign, Dysmetria, Lo... |
OMIM:618088 |
| Parkinsonism With Polyneuropathy |
|
Resting tremor, Rigidity, Diffuse cerebral atrophy, Parkinsonism with favorable response to dopam... |
OMIM:619279 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus, Axial hypot... |
OMIM:616921 |
| Miyoshi Muscular Dystrophy 3 |
|
Muscular dystrophy, Quadriceps muscle weakness, Quadriceps muscle atrophy, Distal lower limb musc... |
OMIM:613319 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Aggressive behavior, Short stature, Pica, Motor stereotypy, Choreoatheto... |
OMIM:617270 |
| Spinocerebellar Ataxia 43 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,... |
OMIM:617018 |
| Leber Optic Atrophy And Dystonia |
|
Spasticity, Dystonia, Upper motor neuron dysfunction, Bradykinesia, Athetosis, Dysphagia |
OMIM:500001 |
| Developmental And Epileptic Encephalopathy 40 |
|
Spasticity, Small for gestational age, Intrauterine growth retardation, Myoclonus, Lethargy, Spas... |
OMIM:617065 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Spinocerebellar tract degeneration, Cerebral atrophy, Hypotonia, Tremor, Dysm... |
OMIM:617916 |
| Episodic Ataxia, Type 1 |
|
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech |
OMIM:160120 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Failure to thrive, Decreased activi... |
OMIM:611523 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, I... |
OMIM:617672 |
| Spinocerebellar Ataxia Type 17 |
|
Blepharospasm, Spasticity, Involuntary movements, Cerebellar atrophy, Chorea, Rigidity, Dystonia,... |
ORPHA:98759 |
| Spinal Muscular Atrophy, Jokela Type |
|
Fasciculations, Difficulty walking, Distal sensory impairment, Elevated circulating creatine kina... |
OMIM:615048 |
| Amyotrophic Lateral Sclerosis 11 |
|
Upper motor neuron dysfunction, Somatic sensory dysfunction, Amyotrophic lateral sclerosis |
OMIM:612577 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Focal dystonia, Violent behavior, Frequent falls, Chorea, Upper motor neuron dysfunct... |
ORPHA:216873 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Phonic tics, Spasticity, Cerebral palsy, Hippocampal atrophy, Dystonia, Aggressive behavior, Corp... |
OMIM:301107 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Cerebral cortical atrophy, Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkins... |
OMIM:616840 |
| Dystonia 25 |
|
Limb dystonia, Lingual dystonia, Torticollis, Laryngeal dystonia |
OMIM:615073 |
| Spinal Muscular Atrophy, Type Ii |
|
Tongue fasciculations, Degeneration of anterior horn cells, Hand tremor |
OMIM:253550 |
| Aceruloplasminemia |
|
Blepharospasm, Involuntary movements, Increased circulating ferritin concentration, Aceruloplasmi... |
ORPHA:48818 |
| Parkinson Disease 14, Autosomal Recessive |
|
Spasticity, Resting tremor, Axial dystonia, Hemiparesis, Loss of ambulation, Parkinsonism, Bradyk... |
OMIM:612953 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Involuntary movements, Chorea, Paresthesia, Aggressive behavior, Lower limb spasticity, Ataxia, T... |
ORPHA:98811 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Tongue fasciculations, Hypokinesia, Appendicular hypotonia, Attention deficit hyperactivity disor... |
OMIM:620007 |
| Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor, Distal ... |
ORPHA:423296 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Spasticity, Hemiballismus, Cerebral atrophy, Inability to walk, Hypotonia, Myoclonus, Gait ataxia... |
OMIM:618877 |
| Dystonia 11, Myoclonic |
|
Hypotonia, Myoclonus, Tremor, Addictive alcohol use, Torticollis, Writer's cramp, Compulsive beha... |
OMIM:159900 |
| Primary Dystonia, Dyt27 Type |
|
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Axial dystonia, Action tremor, Oro... |
ORPHA:464440 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... |
ORPHA:251282 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Muscular dystrophy, Tip-toe gait, Difficulty walking, Reduced muscle fiber alpha dystroglycan, Fa... |
ORPHA:370980 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... |
OMIM:607688 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity |
OMIM:610297 |
| Diaminopentanuria |
|
Neurodegeneration, Spasticity, Ataxia |
OMIM:222350 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Failure to thrive, Decreased activity of mitochondrial complex IV, Tremor, Decreased activity of ... |
OMIM:618951 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Dysp... |
OMIM:261640 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
ORPHA:86812 |
| Autosomal Recessive Spastic Paraplegia Type 56 |
|
Spastic paraplegia, Tip-toe gait, Dystonia, Babinski sign, Spastic gait, Unsteady gait |
ORPHA:320411 |
| Developmental And Epileptic Encephalopathy 92 |
|
Spasticity, Difficulty walking, Inability to walk, Myoclonus, Lethargy, Ataxia, Dystonia |
OMIM:617829 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... |
OMIM:608423 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Ataxia, Cerebellar atrophy, Cerebral atrophy, Myoclonus, Loss of ambulation, Increased neuronal a... |
OMIM:600143 |
| Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Hypotonia, Attention deficit hyperactivity disorder, Lower limb spasticity, Bradykinesia |
OMIM:618878 |
| Spinocerebellar Ataxia 38 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Atrophy/Degeneration affe... |
OMIM:615957 |
| Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Resting tremor, Impaired distal vibration sensation, Postural tremor, Gait at... |
OMIM:300623 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Failure to thrive, Sideroblastic anemia, Decreased activity of mitochondrial complex IV, Hepatome... |
OMIM:613561 |
| Amyotrophic Lateral Sclerosis 9 |
|
Spasticity, Amyotrophic lateral sclerosis |
OMIM:611895 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis, Fasciculations |
OMIM:619141 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2 |
|
Difficulty walking, Dystonia, Sensory ataxia, Rigidity |
OMIM:619661 |
| Progressive Supranuclear Palsy |
|
Blepharospasm, Cerebral cortical atrophy, Falls, Tremor, Rigidity, Dystonia, Gliosis, Neuronal lo... |
ORPHA:683 |
| Pick Disease Of Brain |
|
Inappropriate laughter, Disinhibition, Polyphagia, Gliosis, Neuronal loss in central nervous syst... |
OMIM:172700 |
| Spastic Ataxia 1, Autosomal Dominant |
|
Spastic paraplegia, Spastic ataxia, Gait disturbance, Dystonia, Dysphagia |
OMIM:108600 |
| Parkinson Disease, Late-Onset |
|
Short stepped shuffling gait, Resting tremor, Tremor, Substantia nigra gliosis, Rigidity, Dystoni... |
OMIM:168600 |
| Dystonia 31 |
|
Arm dystonia, Generalized dystonia, Difficulty walking, Leg dystonia, Parkinsonism, Craniofacial ... |
OMIM:619565 |
| Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Fasciculations, Postural tremor, Loss of ambulation, Abnormal pyra... |
OMIM:608627 |
| Spinocerebellar Ataxia Type 2 |
|
Cerebral cortical atrophy, Spinal cord posterior columns myelin loss, Fasciculations, Abnormality... |
ORPHA:98756 |
| Spinocerebellar Ataxia Type 37 |
|
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Cogwhe... |
ORPHA:363710 |
| Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy, Generalized hypotonia, Difficulty walking, Limb ataxia, Myoclonus, Gait ataxi... |
ORPHA:98768 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Cerebellar atrophy, Failure to thrive, Babinski sign, Lethargy, Ophthalmoplegia, Decreased activi... |
OMIM:618226 |
| Dystonia 28, Childhood-Onset |
|
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston... |
OMIM:617284 |
| Tremor, Hereditary Essential, 5 |
|
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
| Optic Atrophy 2 |
|
Babinski sign, Dysdiadochokinesis, Tremor |
OMIM:311050 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Falls, Inappropriate behavior, Extrapyramidal muscular rigidity, Speech apraxia, T... |
ORPHA:99750 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Difficulty walking, Axonal degeneration, Abnormal lower motor neur... |
OMIM:602433 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Spasticity, Generalized hypotonia, Bruxism, Hypotonia, Aggressive behavior, Hyperactivity |
OMIM:615493 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Bruxism, Facial hypotoni... |
OMIM:300055 |
| Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum |
|
Spastic paraplegia, Tip-toe gait, Babinski sign, Unsteady gait, Dystonia |
OMIM:615030 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Chorea, Myoclonus, Parkinsonism, Ataxia, Dystonia, Choreoathetosis |
OMIM:125370 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Difficulty walking, Paralysis, Distal lower limb muscle weakness, Paresis of extensor muscles of ... |
OMIM:608634 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Self-injurious behavior, Spasticity, Involuntary movements, Cerebellar atrophy, Cerebral atrophy,... |
OMIM:617493 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Tongue fasciculations, Spasticity, Global brain atrophy, Cerebellar atrophy, Tetraparesis, Inabil... |
OMIM:618276 |
| Baker-Gordon Syndrome |
|
Self-injurious behavior, Involuntary movements, Neonatal hypotonia, Inability to walk, Athetoid c... |
OMIM:618218 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Hypotonia, Obsessive-compulsive trait, Tremor, Ataxia, Generalized cerebral atrop... |
ORPHA:36387 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Cerebral atrophy, Inability to walk, Bruxism, Hypotonia, Myoclonus, Stereotypical hand wringing, ... |
OMIM:618497 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Diffuse cerebra... |
ORPHA:363654 |
| Spinocerebellar Ataxia 12 |
|
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dysto... |
OMIM:604326 |
| Myopathy, Myofibrillar, 6 |
|
Muscular dystrophy, Tip-toe gait, Lower limb muscle weakness, Myofibrillar myopathy, Distal senso... |
OMIM:612954 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Spasticity, Myoclonus, Gliosis, Hypertonia, Dysphagia |
OMIM:225753 |
| Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... |
OMIM:601846 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Impaired vibratory sensation, Spastic paraparesis, Distal upper limb muscle weakness, Difficulty ... |
OMIM:500013 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Progressive distal muscular atrophy, Muscular dystrophy, Somatic sensory dysfunction, Distal lowe... |
ORPHA:459033 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... |
OMIM:253700 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Generalized dystonia, Cerebellar vermis atrophy, Inability to walk, Hypotonia... |
OMIM:619389 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive, Ataxia |
ORPHA:622 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... |
OMIM:608807 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Tremor, Babinski sign, Ataxia, Muscle weakness |
OMIM:611105 |
| Dystonia 27 |
|
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... |
OMIM:616411 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Peroneal muscle atrophy, Muscular dystrophy, Limb-girdle muscular dystrophy, Elbow flexion contra... |
OMIM:181350 |
| Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Abn... |
OMIM:603516 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Cerebellar hypoplasia, Tremor, Ataxia |
OMIM:213000 |
| Huntington Disease-Like 1 |
|
Global brain atrophy, Incoordination, Chorea, Dysmetria, Rigidity, Aggressive behavior, Unsteady ... |
OMIM:603218 |
| Porphyria, Acute Hepatic |
|
Failure to thrive, Paresthesia, Respiratory paralysis, Paralysis, Hemolytic anemia |
OMIM:612740 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Cerebral atrophy, Neurodegeneration, Post... |
ORPHA:309246 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Lethargy, Chorea, Bradykinesia, Ataxia |
OMIM:618683 |
| Congenital Myopathy 9A |
|
Short stature, Tongue fasciculations, Akinesia, Neonatal hypotonia |
OMIM:618822 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Abnormality of extrapyramidal motor function, Lethargy, Abnormal pyramidal sign, Ataxia, Hepatome... |
OMIM:618224 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebral cortical atrophy, Cerebellar atrophy, Gait ataxia, Myoclonus, Tremor, Abnormality of ext... |
OMIM:615362 |
| Spinocerebellar Ataxia Type 8 |
|
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ata... |
ORPHA:98760 |
| Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity |
OMIM:613643 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
External ophthalmoplegia, Spasticity, Cerebellar atrophy, Failure to thrive, Decreased activity o... |
OMIM:615838 |
| Primary Dystonia, Dyt17 Type |
|
Craniofacial dystonia, Generalized dystonia, Torticollis |
ORPHA:370103 |
| Spastic Paraplegia, Ataxia, And Impaired Intellectual Development |
|
Spastic paraplegia, Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Ankle cl... |
OMIM:607565 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Frontotemporal cerebral atrophy, Inappropriate behavior, Fasciculations, As... |
ORPHA:275864 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Action myoclonus, Cerebellar atrophy, Falls, Limb ataxia, Myoclonus, Gait disturbance, Atrophy/De... |
OMIM:616230 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Babinski sign, Parkinsonism, Ataxia, Dy... |
OMIM:615911 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Inability to walk, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Ataxia |
OMIM:615350 |
| Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Arm dystonia, Episodic ataxia, Incoordination, Episodic generalized hypotonia, Hypotonia, Gait at... |
OMIM:601338 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology, Babinski sign, Spastic gait, Spastic tetraparesis, Spasti... |
OMIM:611637 |
| Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Abnormal B cell count |
OMIM:613495 |
| N-Acetylaspartate Deficiency |
|
Broad-based gait, Generalized hypotonia, Self-mutilation, Short stature, Truncal ataxia, Unsteady... |
OMIM:614063 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Poor motor coordination, Incoordination, Difficulty walking, Chorea, Hypotonia, Myoclonus, Babins... |
OMIM:500003 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Distal lower limb muscle weakness, Paralysis, Distal muscle weakness, Paresis of extensor muscles... |
OMIM:158590 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Poor head control, Spasticity, Myoclonus, Decreased activity of the pyruvate dehydrogenase comple... |
OMIM:614299 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Inflexible adherence to routines, Hypotonia, Truncal ataxia, Unsteady gait,... |
OMIM:608636 |
| Combined Saposin Deficiency |
|
Fasciculations, Hypotonia, Myoclonus, Hyperkinetic movements, Babinski sign, Neuronal loss in cen... |
OMIM:611721 |
| Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Dysphagia, Amyotrophic lateral sclerosis |
OMIM:617839 |
| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| L-2-Hydroxyglutaric Aciduria |
|
Global brain atrophy, Cerebellar atrophy, Abnormality of extrapyramidal motor function, Abnormal ... |
OMIM:236792 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Spasticity, Myoclonus, Ophthalmoplegia, Lethargy, Decreased activity of mitochondrial complex I, ... |
OMIM:618225 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Increased neuronal a... |
ORPHA:79263 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, Dystonia, Limb hypertonia, Bradykinesia, Gro... |
ORPHA:70594 |
| Dystonia 22, Juvenile-Onset |
|
Cerebellar atrophy, Generalized dystonia, Laryngeal dystonia, Intention tremor, Dysmetria, Lower ... |
OMIM:620453 |
| Acute Peripheral Arterial Occlusion |
|
Paresthesia, Leukocytosis, Limb muscle weakness, Paralysis, Impaired distal tactile sensation |
ORPHA:90064 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls |
OMIM:614937 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Distal upper limb muscle weakness, Difficulty walking, Distal sensory impairment, Distal lower li... |
OMIM:605285 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... |
OMIM:613204 |
| Spastic Paraplegia 90A, Autosomal Dominant |
|
Appendicular spasticity, Short stature, Spastic gait, Dystonia, Dysphagia, Tethered cord, Axial h... |
OMIM:620416 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Spasticity, Impaired pain sensation, Cerebral atrophy, Inability to walk, Chorea, Gait ataxia, Ab... |
ORPHA:500180 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Athetosis, Inability to walk, Abnormality of extrapyramidal motor function, Ataxia, Dystonia, Res... |
OMIM:615159 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:617066 |
| Leukodystrophy, Hypomyelinating, 14 |
|
Spasticity, Cerebellar atrophy, Cerebral atrophy, Generalized hypotonia, Dystonia, Growth delay |
OMIM:617899 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Failure to thrive, Decreased activity of mitochondrial ATP synthase complex, Decreased activity o... |
OMIM:618378 |
| Developmental And Epileptic Encephalopathy 11 |
|
Hyperkinetic movements, Global brain atrophy, Spastic tetraplegia |
OMIM:613721 |
| Episodic Kinesigenic Dyskinesia 3 |
|
Dystonia, Involuntary movements, Choreoathetosis, Torticollis |
OMIM:620245 |
| Muscular Dystrophy, Congenital, 1B |
|
Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakness, Pectoralis a... |
OMIM:604801 |
| Gerstmann-Straussler Disease |
|
Spasticity, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Aggressive... |
OMIM:137440 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Elevated circulating creatine k... |
ORPHA:276435 |
| Dravet Syndrome |
|
Poor fine motor coordination, Global brain atrophy, Incoordination, Cogwheel rigidity, Action tre... |
ORPHA:33069 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Spasticity, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Chorea, Gait ataxia, Intenti... |
OMIM:610217 |
| Amyotrophic Lateral Sclerosis 19 |
|
Loss of ambulation, Amyotrophic lateral sclerosis |
OMIM:615515 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Self-injurious behavior, Inability to walk, Chorea, Stereotypical hand wringing, Dystonia, Axial ... |
OMIM:618760 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Spasticity, Spastic paraparesis, Shuffling gait, Hand tremor, Frequent falls, Rigidity, Dystonia,... |
ORPHA:289560 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor,... |
OMIM:611302 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Tip-toe gait, Should... |
OMIM:606612 |
| Barth Syndrome |
|
Abnormality of neutrophils, Abnormal mitochondrial morphology |
ORPHA:111 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Cerebellar atrophy, Mildly elevated creatine kinase, Limb ataxia, Gait ataxia, Positive Romberg s... |
OMIM:258450 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
| Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Increased neuronal autofluorescent lipopigment, Myoclonus, Abnormality of extrapyramidal motor fu... |
OMIM:162350 |
| Atypical Rett Syndrome |
|
Spasticity, Neonatal hypotonia, Loss of ambulation, Involuntary movements, Limb myoclonus, Inabil... |
ORPHA:3095 |
| Multiminicore Myopathy |
|
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... |
ORPHA:598 |
| Spinocerebellar Ataxia 14 |
|
Cerebellar atrophy, Gait ataxia, Dysmetria, Attention deficit hyperactivity disorder, Focal dysto... |
OMIM:605361 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Intrauterine growth retardation, Hypotonia, Limb dystonia, Tremor, Aggressive behavior, Hyperacti... |
OMIM:620270 |
| Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor |
ORPHA:217012 |
| Progressive Myoclonic Epilepsy With Dystonia |
|
Diffuse cerebellar atrophy, Generalized neonatal hypotonia, Hemiplegia, Myoclonus, Abnormality of... |
ORPHA:352596 |
| Myopathy, Myofibrillar, 2 |
|
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... |
OMIM:608810 |
| Foxg1 Syndrome |
|
Spasticity, Difficulty walking, Bruxism, Inability to walk, Hypotonia, Myoclonus, Stereotypical h... |
ORPHA:561854 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Episodic ataxia, Myoclonus, Decreased activity of the pyruvate dehydro... |
OMIM:312170 |
| Developmental And Epileptic Encephalopathy 16 |
|
Cerebral atrophy, Hypotonia, Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis... |
OMIM:615338 |
| Spinocerebellar Ataxia Type 28 |
|
Spasticity, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, Rigidity, Dystonia, Babinski si... |
ORPHA:101109 |
| Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Scapulohumeral muscular dystrophy, Myopathy |
OMIM:160570 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Myoclonus, Tremor, Axial hypotonia, Compulsive behaviors, Dystonia, Agitation |
OMIM:619651 |
| Juvenile Primary Lateral Sclerosis |
|
Spasticity, Abnormal upper motor neuron morphology, Gait imbalance, Abnormal pyramidal sign, Spas... |
ORPHA:247604 |
| Congenital Myopathy 3 With Rigid Spine |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:602771 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Cerebral atrophy, Generalized hypotonia, Neurodegeneration, Hypotonia, Abnorm... |
OMIM:256600 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Spasticity, Cerebellar atrophy, Hand tremor, Neurodegeneration, Babinski sign, Apraxia, Ataxia, D... |
OMIM:615889 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12 |
|
Muscular dystrophy, Limb-girdle muscle weakness |
OMIM:616094 |
| Hsd10 Mitochondrial Disease |
|
Spastic tetraplegia, Spasticity, Choreoathetosis, Abnormal mitochondrial morphology |
OMIM:300438 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Myoclonus, Rigidity, Ataxia, Intention tremor |
OMIM:618876 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor |
ORPHA:308 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Self-injurious behavior, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Cho... |
OMIM:618917 |
| Parkinsonian-Pyramidal Syndrome |
|
Spasticity, Shuffling gait, Myoclonus, Substantia nigra gliosis, Rigidity, Babinski sign, Parkins... |
ORPHA:171695 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Cerebellar vermis atrophy, Hypotonia, Limb dystonia, Elevated circulating creatine kinase concent... |
OMIM:619054 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Cerebral cortical atrophy, Chorea, Opisthotonus, Gliosis, Dystonia, Restlessness, Dysphagia, Extr... |
OMIM:277470 |
| Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Cerebral cortical atrophy, Spasticity, Gait ataxia, Dysmetria, Spastic ataxia, Dystonia, Spastic ... |
ORPHA:314603 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Hypersegmentation of neutrophil nuclei, Increased mitochondrial number, Intrauterine growth retar... |
OMIM:615578 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Spastic paraplegia, Cerebellar atrophy, Neurodegeneration, Difficulty walking, Dysmetria, Ankle c... |
OMIM:612319 |
| Delayed Encephalopathy Due To Carbon Monoxide Poisoning |
|
Bradykinesia, Rigidity |
ORPHA:306686 |
| Adult-Onset Dystonia-Parkinsonism |
|
Progressive extrapyramidal movement disorder, Spasticity, Frontotemporal cerebral atrophy, Abnorm... |
ORPHA:199351 |
| Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Myoclonus, Tremor, Ataxia |
OMIM:616187 |
| Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls |
OMIM:615945 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Impaired pain sensation, Hand tremor, ... |
ORPHA:99947 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Severe short stature, Muscular dystrophy |
OMIM:204730 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Spasticity, Spastic paraparesis, Spastic paraplegia, Failure to thr... |
OMIM:238970 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Joint contracture of the hand, Muscular dystrophy, Elbow flexion contracture, Calf muscle hypertr... |
OMIM:608840 |
| Hemidystonia-Hemiatrophy Syndrome |
|
Limb dystonia, Rhizomelic leg shortening, Hemiparesis, Babinski sign, Abnormal pyramidal sign, Dy... |
ORPHA:306741 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:610498 |
| Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Focal dystonia, Generalized dystonia, Postural tremor, Impaired vibration sensation in the lower ... |
ORPHA:98808 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:612999 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Broad-based gait, Cerebral atrophy, Generalized hypotonia, Inability to walk, Hypotonia, Lower li... |
OMIM:616756 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor |
OMIM:608687 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Broad-based gait, Cerebellar atrophy, Hypotonia, Limb ataxia, Gait ataxia, Appendicular hypotonia... |
OMIM:616127 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Muscular dystrophy, Gait disturbance |
ORPHA:1875 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:616812 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Chorea, Hypotonia, Abnormality of extrapyramidal motor function, Dystoni... |
ORPHA:382 |
| Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Paroxysmal choreoathetosis, Paroxysmal dystonia, Dysphagia, Torticollis |
OMIM:118800 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... |
OMIM:606324 |
| Multiple System Atrophy, Cerebellar Type |
|
Broad-based gait, Neuromuscular dysphagia, Resting tremor, Postural tremor, Limb ataxia, Gait ata... |
ORPHA:227510 |
| Bethlem Muscular Dystrophy |
|
Difficulty walking, Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy, Quadriceps mu... |
ORPHA:610 |
| Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, ... |
OMIM:618093 |
| Primary Progressive Freezing Gait |
|
Cerebral cortical atrophy, Shuffling gait, Frequent falls, Difficulty walking, Postural tremor, G... |
ORPHA:75567 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Hypotonia, Self-mutilation, Tremor, Hyperkinetic movements, Gait disturbance, Gliosis, Short stat... |
ORPHA:457240 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Neonatal hypotonia, Cerebral palsy, Hypotonia, Babinski sign, Limb hypertonia... |
OMIM:612936 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Dystonia, Involuntary movements, Paroxysmal dyskinesia, Chorea |
OMIM:611031 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Babinski sign, Bradykinesia, Decreased activity of mitochondrial ... |
OMIM:619063 |
| Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Generalized hypotonia, Cerebellar vermis atrophy, Limb ataxia, Gait ... |
ORPHA:98763 |
| Progressive Non-Fluent Aphasia |
|
Temporal cortical atrophy, Frontotemporal cerebral atrophy, Astrocytosis, Abnormality of extrapyr... |
ORPHA:100070 |
| Muscular Dystrophy, Congenital, With Rapid Progression |
|
Muscular dystrophy |
OMIM:254100 |
| Immunodeficiency 19 |
|
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615617 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal muscle weakness, Distal sensory impairment |
OMIM:614369 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Cerebellar atrophy, Akinesia, Lower limb spasticity, Abnormal pyramidal sign, Truncal ataxia, Cho... |
OMIM:618249 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, C... |
OMIM:613530 |
| Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Tetraparesis, Infantile muscular hypotonia, Ataxia, Dystonia, Restlessness, Spastic tetraplegia |
ORPHA:263410 |
| Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Cerebral atrophy, Myoclonus, Increased extraneuronal autofluorescent lipopigment, Increas... |
OMIM:204500 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebral cortical atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, My... |
OMIM:256731 |
| Dystonia 17, Torsion, Autosomal Recessive |
|
Focal dystonia, Torticollis |
OMIM:612406 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Failure to thrive, Lethargy, Abnormal pyramidal sign, Decreased activity of mitochondrial complex... |
OMIM:618228 |
| Stxbp1-Related Encephalopathy |
|
Spasticity, Inability to walk, Hypotonia, Tremor, Hyperactivity, Ataxia, Dystonia, Spastic tetrap... |
ORPHA:599373 |
| Parkinson Disease 20, Early-Onset |
|
Cerebral cortical atrophy, Involuntary movements, Shuffling gait, Short stepped shuffling gait, T... |
OMIM:615530 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Muscular dystrophy, Camptodactyly of finger, Intrauterine growth retardation, Myopathy, Gait dist... |
ORPHA:272 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Spasticity, Cerebral palsy, Cerebral atrophy, Hypotonia, Myoclonus, Limb dystonia, Opisthotonus, ... |
OMIM:619847 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Fasciculations, Elevated circulating creatine kinase concentration... |
ORPHA:52430 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Spasticity, Cerebellar atrophy, Cerebral atrophy, Intrauterine growth retardation, Gliosis, Hyper... |
OMIM:615095 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... |
OMIM:616053 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Abnormal B cell morphology |
OMIM:616911 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Tongue fasciculations, Involuntary movements, Hypokinesia, Hypotonia, Tetraplegia |
OMIM:300816 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Involuntary movements, Hypotonia, Aggressive behavior, Motor stereotypy, Agitation |
OMIM:617171 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Progressive extrapyramidal muscular rigidity, Hemiplegia, Chorea, Infantile axial... |
ORPHA:225147 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Tongue fasciculations, Hypotonia, Elevated circulating creatine kinase concentration, Severe musc... |
OMIM:301830 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Muscular dystrophy, Inability to walk, Calf muscle hypertrophy, Macroglossia, Flexion contracture... |
OMIM:613155 |
| Primary Lateral Sclerosis, Juvenile |
|
Cerebral cortical atrophy, Pseudobulbar paralysis, Abnormal upper motor neuron morphology, Append... |
OMIM:606353 |
| Spastic Paraplegia 90B, Autosomal Recessive |
|
Appendicular spasticity, Short stature, Dystonia, Dysphagia, Tethered cord, Axial hypotonia |
OMIM:620417 |
| Raynaud-Claes Syndrome |
|
Cerebral cortical atrophy, Cerebral atrophy, Generalized hypotonia, Hypotonia, Aggressive behavio... |
OMIM:300114 |
| Spastic Paraplegia 70, Autosomal Recessive |
|
Spasticity, Somatic sensory dysfunction, Fasciculations, Ankle clonus, Growth delay |
OMIM:620323 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Myoclonus, Oppositional defiant disorder, Dysmetria, Tremor, Impaired tandem ... |
OMIM:619028 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypotonia, Myoclonus, Tremor, Hypertonia, Dystonia, Dysphagia, Choreoathetosis |
OMIM:261630 |
| Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... |
ORPHA:2926 |
| Hypotrichosis 1 |
|
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... |
OMIM:605389 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal a... |
OMIM:613728 |
| Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
