Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Difficulty walking, Abnormal po... |
OMIM:619565 |
Autosomal Dominant Focal Dystonia, Dyt25 Type |
|
Axial dystonia, Torticollis, Focal dystonia, Limb dystonia, Lingual dystonia, Laryngeal dystonia,... |
ORPHA:329466 |
Dystonia, Early-Onset, And/Or Spastic Paraplegia |
|
Laryngeal dystonia, Spastic paraplegia, Difficulty walking, Dystonia |
OMIM:619681 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Dystonia 4, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Hemidystonia, Torsion dystonia, Gait ataxia, Limb dystonia |
OMIM:128101 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Dystonia 30 |
|
Torticollis, Writer's cramp, Oromandibular dystonia, Leg dystonia, Arm dystonia, Dystonia, Loss o... |
OMIM:619291 |
Dystonia With Cerebellar Atrophy |
|
Progressive cerebellar ataxia, Torticollis, Craniofacial dystonia, Dystonia |
OMIM:611694 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome |
|
Paroxysmal dystonia, EEG with parietal focal spike waves, Writer's cramp, Prolonged somatosensory... |
ORPHA:163727 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2 |
|
Rigidity, Dystonia, Difficulty walking, Sensory ataxia |
OMIM:619661 |
Dystonia 25 |
|
Lingual dystonia, Torticollis, Laryngeal dystonia, Limb dystonia |
OMIM:615073 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Gait disturbance, Dystonia, Spasticity |
OMIM:614561 |
Autosomal Recessive Spastic Paraplegia Type 56 |
|
Spastic paraplegia, Unsteady gait, Tip-toe gait, Dystonia, Spastic gait |
ORPHA:320411 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum |
|
Spastic paraplegia, Unsteady gait, Dystonia, Tip-toe gait |
OMIM:615030 |
Dystonia 33 |
|
Axial dystonia, Limb dystonia, Axial hypotonia, Dystonia, Spasticity |
OMIM:619687 |
Dystonia 6, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Limb dystonia, Oromandibular dystonia, Lingual dys... |
OMIM:602629 |
Stxbp1-Related Encephalopathy |
|
Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Spastic tetraplegia, Hyp... |
ORPHA:599373 |
Spastic Ataxia 1, Autosomal Dominant |
|
Spastic ataxia, Spastic paraplegia, Gait disturbance, Dystonia |
OMIM:108600 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Striatonigral Degeneration, Childhood-Onset |
|
Unsteady gait, Hypotonia, Steppage gait, Hypertonia, Dystonia, Loss of ambulation, Craniofacial d... |
OMIM:617054 |
Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Dystonia |
OMIM:620245 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Axial hypotonia, Ataxia, Tremor, Chorea, Dystonia |
OMIM:618425 |
Primary Dystonia, Dyt17 Type |
|
Torticollis, Generalized dystonia, Craniofacial dystonia |
ORPHA:370103 |
Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Inability to walk, EEG abnormality, Difficulty walking, Dystonia, Spasticity |
OMIM:617829 |
Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Head tremor, Limb dystonia |
OMIM:614860 |
Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Dystonia, Spasticity |
ORPHA:309169 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... |
ORPHA:98807 |
Developmental And Epileptic Encephalopathy 7 |
|
EEG with burst suppression, Hypotonia, Spastic tetraparesis, Dystonia |
OMIM:613720 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Axial hypotonia, Inability to walk, Chorea, EEG abnormality, Dystonia |
OMIM:618760 |
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum |
|
Dystonia, Hypertonia, Spastic gait, Cogwheel rigidity |
OMIM:618284 |
Dystonia 17, Torsion, Autosomal Recessive |
|
Torticollis, Focal dystonia |
OMIM:612406 |
Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis, Torticollis |
OMIM:118800 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis, Normal interictal EEG |
OMIM:602066 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Retrocollis, Dystonia, Oromandibular dystoni... |
OMIM:617284 |
Episodic Kinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:128200 |
Developmental And Epileptic Encephalopathy 17 |
|
Inability to walk, Chorea, EEG with burst suppression, Hypsarrhythmia, Athetosis, Dystonia |
OMIM:615473 |
Spastic Paraplegia 87, Autosomal Recessive |
|
Lower limb spasticity, Upper limb spasticity, Spastic gait, Dystonia |
OMIM:619966 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Spastic paraplegia, Impaired vibration sensation i... |
ORPHA:251282 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Lower limb spasticity, Ataxia, Chorea, Torsion dystonia, Choreoathetosis, Paresthesia, Dystonia |
ORPHA:98811 |
Paroxysmal Kinesigenic Dyskinesia |
|
Athetosis, Chorea, Writer's cramp, Dystonia |
ORPHA:98809 |
Dentatorubral-Pallidoluysian Atrophy |
|
Choreoathetosis, Chorea, Ataxia, Dystonia |
OMIM:125370 |
Spinocerebellar Ataxia Type 11 |
|
Progressive cerebellar ataxia, Gait imbalance, Difficulty walking, Dystonia |
ORPHA:98767 |
Developmental And Epileptic Encephalopathy 69 |
|
Axial hypotonia, Inability to walk, Spastic tetraplegia, Hypsarrhythmia, EEG abnormality, Dystonia |
OMIM:618285 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Postural tremor, Writer's cramp, Impaired distal vibration sensation... |
OMIM:128230 |
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Dyston... |
ORPHA:314603 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Axial hypotonia, Ataxia, Dystonia, Spastic tetraparesis, EEG with abnormally slow frequencies, Dy... |
ORPHA:280219 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Axial hypotonia, Ataxia, Inability to walk, Athetosis, Dystonia |
OMIM:615159 |
Spinocerebellar Ataxia Type 28 |
|
Dystonia, Kinetic tremor, Rigidity, Limb ataxia, Gait ataxia, Head tremor, Limb dystonia, Spasticity |
ORPHA:101109 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Tremor, Rigidity, Chorea, Dystonia |
ORPHA:401901 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Inability to walk, Spastic tetraplegia, Dystonia |
OMIM:618646 |
Striatonigral Degeneration, Infantile |
|
Choreoathetosis, Spasticity, Dystonia |
OMIM:271930 |
Dystonia 32 |
|
Torticollis, Laryngeal dystonia, Limb dystonia |
OMIM:619637 |
Epilepsy, Nocturnal Frontal Lobe, 4 |
|
Dystonia |
OMIM:610353 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Torsion dystonia, H... |
OMIM:128100 |
Paroxysmal Nonkinesigenic Dyskinesia 2 |
|
Paroxysmal dystonia |
OMIM:611147 |
Segawa Syndrome, Autosomal Recessive |
|
Axial hypotonia, Tremor, Rigidity, Gait ataxia, Limb dystonia |
OMIM:605407 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Axial hypotonia, Ataxia, Chorea, EEG abnormality, Falls, Dystonia |
OMIM:619150 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Generalized dystonia, Inability to walk, Hypotonia |
OMIM:619389 |
Alternating Hemiplegia Of Childhood 1 |
|
Choreoathetosis, Dystonia |
OMIM:104290 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Rigidity, Chorea, Choreoathetosis, Dystonia |
ORPHA:98810 |
Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Dystonia |
OMIM:611031 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 |
|
Hypsarrhythmia, Axial hypotonia, Spastic tetraplegia, Dystonia |
OMIM:251280 |
Dystonia, Focal, Task-Specific |
|
Writer's cramp |
OMIM:611284 |
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Ataxia, Dystonia |
OMIM:619196 |
Torsion Dystonia With Onset In Infancy |
|
Torsion dystonia |
OMIM:602554 |
Blepharonasofacial Malformation Syndrome |
|
Torsion dystonia |
OMIM:110050 |
Dystonia 35, Childhood-Onset |
|
Dystonia |
OMIM:619921 |
Oxoglutarate Dehydrogenase Deficiency |
|
Rigidity, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Falls, Dystonia |
OMIM:203740 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Hypotonia, Dysmetria, Dystonia, Loss of a... |
OMIM:617916 |
Dystonia 9 |
|
Spastic paraplegia, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia |
OMIM:601042 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, EEG abnormality, Generalized hypotonia, Dystonia |
OMIM:617836 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Ataxia, Hypotonia, Dysmetria, Choreoathetosis, Positive Romberg sign, Dystonia, Loss of ambulatio... |
OMIM:618088 |
3-Methylglutaconic Aciduria Type 1 |
|
Progressive cerebellar ataxia, Spastic tetraparesis, Dystonia |
ORPHA:67046 |
Dyschromatosis Symmetrica Hereditaria |
|
Torsion dystonia |
ORPHA:41 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia |
OMIM:314250 |
Primary Dystonia, Dyt21 Type |
|
Axial dystonia, Paroxysmal dystonia, Torticollis, Generalized dystonia, Limb dystonia, Focal dyst... |
ORPHA:306734 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Lower limb spasticity, Spastic paraplegia, Limb ataxia, Upper limb spasticity, Gait disturbance, ... |
OMIM:618418 |
Huntington Disease-Like 2 |
|
Chorea, Gait disturbance, Dystonia |
ORPHA:98934 |
Alternating Hemiplegia Of Childhood 2 |
|
Choreoathetosis, Ataxia, Dystonia |
OMIM:614820 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Inability to walk, Hypotonia, EEG abnormality, Dystonia, Spasticity |
OMIM:617820 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Axial hypotonia, Dystonia, Oculogyric crisis, Tremor, Rigidity, Chorea, Cogwheel rigidity, Hypert... |
OMIM:613135 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Tremor, Gait disturbance, Rigidity, Dystonia |
OMIM:600116 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head tremor, Action... |
OMIM:604326 |
Pontocerebellar Hypoplasia, Type 2C |
|
Chorea, Dystonia |
OMIM:612390 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Choreoathetosis, Spasticity, Axial hypotonia, Dystonia |
OMIM:614249 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Impaired vibratory sensation, Spastic paraplegia, Lower limb hypertonia, Gait disturbance, Upper ... |
OMIM:614898 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Broad-based gait, Dystonia, Ataxia, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Limb ataxia... |
OMIM:616127 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Axial hypotonia, Ataxia, Tremor, Gait ataxia, Dystonia, Spasticity |
OMIM:607317 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Tremor, Torsion dystonia, Blepharospasm, Difficulty walking, L... |
ORPHA:99657 |
Developmental And Epileptic Encephalopathy 27 |
|
Axial hypotonia, Chorea, Hypotonia, Hypsarrhythmia, Dystonia, Spasticity |
OMIM:616139 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Broad-based gait, Axial hypotonia, Oculogyric crisis, Hypertonia, Generalized hypotonia, Dystonia... |
OMIM:617384 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Hypotonia, Gen... |
OMIM:616756 |
Infantile Convulsions And Choreoathetosis |
|
Chorea, Choreoathetosis, Athetosis, Dystonia, Normal interictal EEG |
ORPHA:31709 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Gait disturbance, Retrocollis, Limb dystonia, Laryngeal dy... |
OMIM:612067 |
Developmental And Epileptic Encephalopathy 67 |
|
Hypsarrhythmia, EEG abnormality, Athetosis, Gait disturbance, Dystonia |
OMIM:618141 |
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Dystonia, Ataxia, Spastic tetraplegia, Infantile muscular hypotonia |
ORPHA:263410 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Lower limb spasticity, Dystonia, Ataxia, Hypotonia, Gait ataxia, Gait disturbance, Difficulty wal... |
OMIM:614458 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Spastic paraplegia, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia |
ORPHA:53583 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Torticollis, Head tremor... |
OMIM:613724 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Axial hypotonia, Chorea, Difficulty walking, Dystonia, Limb hypertonia |
ORPHA:324588 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensation in the lower limb... |
OMIM:607565 |
Primary Dystonia, Dyt6 Type |
|
Limb dystonia, Torticollis, Generalized dystonia, Blepharospasm, Dystonia, Lingual dystonia, Lary... |
ORPHA:98806 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Ataxia, Inability to walk, Hypotonia, Dystonia, Spasticity |
OMIM:618276 |
Dystonia 16 |
|
Torticollis, Unsteady gait, Postural tremor, Limb dystonia |
ORPHA:210571 |
Spinocerebellar Ataxia 14 |
|
Dysmetria, Focal dystonia, Gait ataxia, Progressive cerebellar ataxia, Impaired vibration sensati... |
OMIM:605361 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Axial hypotonia, Ataxia, Oculogyric crisis, Tremor, Hypotonia, Dysdiadochokinesis, Shuffling gait... |
OMIM:618049 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Tremor, Ataxia, Hypotonia, Limb dystonia |
OMIM:620270 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Choreoathetosis, EEG abnormality, Spasticity |
OMIM:606777 |
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia |
|
Generalized hypotonia, Dystonia |
OMIM:616763 |
Dystonia 15, Myoclonic |
|
Writer's cramp, Dystonia |
OMIM:607488 |
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Torticollis, Head titubation, Truncal ataxia, Limb ataxia, Hypotonia, Limb dystonia, Spasticity |
OMIM:617560 |
Parkinson Disease 19A, Juvenile-Onset |
|
Rigidity, Pill-rolling tremor, Shuffling gait, Dystonia, Loss of ambulation, Spasticity, Limb hyp... |
OMIM:615528 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Hypotonia, Choreoathetosis, Hypertonia, Dystonia |
OMIM:261630 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Gait ataxia, Generalized hypotonia, Limb dystonia, Craniofacial dyst... |
ORPHA:71517 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Choreoathetosis, EEG abnormality, Dystonia |
OMIM:612126 |
Dystonia 12 |
|
Tremor, Torticollis, Unsteady gait, Dystonia |
OMIM:128235 |
Leukodystrophy, Hypomyelinating, 18 |
|
Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity, Spastic tetraplegi... |
OMIM:618404 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Generalized dystonia, Ataxia, Rigidity, Hypotonia, Gait disturbance, Dystonia |
OMIM:618239 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Ataxia, Dystonia |
ORPHA:1171 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Dystonia, Rigidity, Spastic tetraplegia, Tip-toe gait, Gait disturbance, Spastic paraparesis, Oro... |
OMIM:615643 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Tremor, Rigidity, Chorea, Athetosis, Dysdiadochokinesis, Gait disturbance, Dystonia, Limb dysmetria |
OMIM:213600 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Prolonged somatosensory evoked potentials, Paroxysmal dystonia, Writer's cramp, Hand tremor |
OMIM:608105 |
Dystonia 11, Myoclonic |
|
Tremor, Hypotonia, Torticollis, Writer's cramp |
OMIM:159900 |
Partington Syndrome |
|
EEG abnormality, Lower limb spasticity, Gait disturbance, Limb dystonia |
ORPHA:94083 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tremor, Rigidity, Chorea, Focal dystonia, Gait disturbance, Limb dystonia, Oromandibular dystonia... |
ORPHA:216873 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Myoclonus-Dystonia Syndrome |
|
Torticollis, Writer's cramp, Dystonia |
ORPHA:36899 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Dystonia, Unsteady gait, Dysmetria, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal ataxia... |
ORPHA:453521 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Spastic paraplegia, Dysmetria, Tip-t... |
OMIM:609195 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Gait disturbance, Dystonia |
OMIM:617145 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Axial hypotonia, Ataxia, Tremor, Choreoathetosis, Dystonia, Spasticity |
OMIM:612716 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Infantile axial hypotonia, Tremor, Scissor gait, Oromandibular dystonia, Dystonia, Loss of ambula... |
ORPHA:521406 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Spasticity, Ataxia, Dystonia |
OMIM:615924 |
Hemidystonia-Hemiatrophy Syndrome |
|
Dystonia, Limb dystonia |
ORPHA:306741 |
Mitochondrial Myopathy With Lactic Acidosis |
|
Hypotonia, Dysmetria, Tip-toe gait, Dystonia, Spasticity |
OMIM:251950 |
Leukodystrophy, Hypomyelinating, 25 |
|
Dystonia, Hypotonia, Gait ataxia |
OMIM:620243 |
Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Athetosis, Spasticity, Ataxia, Dystonia |
OMIM:612951 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Ataxia, Inability to walk, Hypotonia, Dysmetria, Dystonia, Spasticity |
OMIM:617954 |
Baker-Gordon Syndrome |
|
Ataxia, Inability to walk, Choreoathetosis, EEG abnormality, Dystonia, Neonatal hypotonia |
OMIM:618218 |
Leukodystrophy, Hypomyelinating, 16 |
|
Broad-based gait, Hypotonia, Dysmetria, Gait ataxia, Choreoathetosis, Hypertonia, Shuffling gait,... |
OMIM:617964 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Impaired pain sensation, Inability to walk, Chorea, Gait ataxia, EEG abnormality, Infan... |
ORPHA:500180 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Chorea, Choreoathetosis, EEG abnormality, Hypertonia, Dystonia, Spasticity |
ORPHA:71277 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Axial hypotonia, Ataxia, Oculogyric crisis, Spastic tetraparesis, Dystonia, Tremor, Dysdiadochoki... |
ORPHA:352649 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Broad-based gait, Interictal epileptiform activity, Hypotonia, Dystonia |
OMIM:619157 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Tremor, Rigidity, Scissor gait, Dystonia |
OMIM:260300 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Ataxia, Generalized hypotonia, Dystonia |
OMIM:618224 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Gait ataxia, Laryngeal dyst... |
ORPHA:101110 |
Partington Syndrome |
|
Limb dystonia, Lower limb spasticity, EEG abnormality, Focal dystonia |
OMIM:309510 |
Episodic Ataxia, Type 9 |
|
Episodic ataxia, Dystonia |
OMIM:618924 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Progressive cerebellar ataxia, Dystonia,... |
ORPHA:248111 |
Developmental And Epileptic Encephalopathy 53 |
|
Hypotonia, Hypsarrhythmia, Spastic tetraplegia, Dystonia |
OMIM:617389 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Tremor, Chorea, Dysmetria, Gait ataxia, Dystonia |
OMIM:618093 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
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Severe muscular hypotonia, Oculogyric crisis, Inability to walk, Chorea, Hypotonia, EEG abnormali... |
OMIM:614254 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Generalized dystonia, Rigidity, Limb ataxia, Hypertonia, Limb dystonia |
OMIM:618824 |
Neurodevelopmental Disorder With Dystonia And Seizures |
|
Chorea, Spastic tetraplegia, Hypotonia, EEG with photoparoxysmal response, Athetosis, Dystonia |
OMIM:619922 |
Spinocerebellar Ataxia 28 |
|
Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Lower limb hypertonia, Dystonia, Spasticity |
OMIM:610246 |
Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Kinetic tremor, Chorea, Gait ataxia, Progressive cerebellar ataxia, Generalized ... |
ORPHA:98756 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Axial hypotonia, Dystonia |
OMIM:619647 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Axial hypotonia, Ataxia, Hypotonia, Falls, Generalized hypotonia, Dystonia, Spasticity |
OMIM:619224 |
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Dystonia, Ataxia, Dysesthesia, Head titubation, Generalized hypotonia, Difficulty walking, Progre... |
ORPHA:527497 |
Spinocerebellar Ataxia Type 17 |
|
Torticollis, Ataxia, Writer's cramp, Rigidity, Chorea, Blepharospasm, Gait disturbance, Dystonia,... |
ORPHA:98759 |
Familial Infantile Bilateral Striatal Necrosis |
|
Dystonia, Ataxia, Spastic tetraparesis, Rigidity, Gait ataxia, Choreoathetosis, Cogwheel rigidity... |
ORPHA:225154 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Inability to walk, Spasticity, Opisthotonus, Tip-toe gait, Gait disturbance... |
ORPHA:216866 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Axial hypotonia, Ataxia, Dystonia, Head titubation, Ri... |
OMIM:608804 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Axial hypotonia, Severe muscular hypotonia, Decreased nerve conduction velocity, Choreoathetosis,... |
OMIM:614932 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Axial hypotonia, Generalized dystonia, Spastic tetraparesis, Inability to walk, Opisthotonus, Cho... |
OMIM:619653 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Torticollis, Ataxia, Hypotonia, Choreoathetosis, Limb dystonia |
OMIM:619054 |
Folinic Acid-Responsive Seizures |
|
Broad-based gait, Ataxia, Spastic tetraparesis, Chorea, Multifocal epileptiform discharges, Hypsa... |
ORPHA:79097 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Rigidity, Chorea, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg... |
OMIM:607136 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Lower limb spasticity, Generalized dystonia, Ataxia, Dystonia, Spastic tetraparesis, Head titubat... |
OMIM:205100 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia |
ORPHA:330050 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Dystonia, Spasticit... |
ORPHA:79263 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Spastic diplegia, Dystonia |
OMIM:619065 |
Mepan Syndrome |
|
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Hypotonia, Gait disturbance, Limb dystoni... |
ORPHA:508093 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Hemidystonia, Spastic gait, Spastic tetraparesis |
OMIM:619052 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Chorea, Hypotonia, Athetosis, Dystonia |
ORPHA:382 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Dystonia, Infantile axial hypotonia, Chorea, Titubation, Gait ataxia, Gait distur... |
ORPHA:225147 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Spasticity, Unsteady gait, Dystonia |
OMIM:301107 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Ataxia, Postural tremor, Oculogyric crisis, Rigidity, Hypotonia, Focal dyst... |
ORPHA:101150 |
Developmental And Epileptic Encephalopathy 6B |
|
Axial hypotonia, Ataxia, Inability to walk, Chorea, Hypotonia, Multifocal epileptiform discharges... |
OMIM:619317 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Gait disturbance, Dystonia |
ORPHA:314632 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Hypoesthesia, Chorea, Dysmetria, Dystonia |
OMIM:618317 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Choreoat... |
OMIM:604391 |
Atypical Rett Syndrome |
|
Neonatal hypotonia, Impaired pain sensation, Tremor, Inability to walk, Hypotonia, Gait ataxia, P... |
ORPHA:3095 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Ataxia, Hypotonia, Choreoathetosis, Dystonia, Neonatal... |
OMIM:245348 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Dystonia, EEG ... |
ORPHA:254881 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Axial hypotonia, Chorea, Hypotonia, Choreoathetosis, Dystonia, Limb hypertonia |
OMIM:606703 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Ataxia, Difficulty walking, Dystonia |
OMIM:616684 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Impaired vibratory sensation, Impaired proprioception, Upper limb hypertonia, Limb dystonia |
ORPHA:319199 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Truncal titubation, Hypotonia, Limb ataxia, Impaired tandem gait, Dysmetria, Ga... |
OMIM:117360 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Decreased nerve conduction velocity, Inability to walk, EEG abnormality, Dystonia, Abnormal perip... |
ORPHA:457205 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Difficul... |
ORPHA:420492 |
Leukodystrophy, Hypomyelinating, 14 |
|
Spasticity, Generalized hypotonia, Dystonia |
OMIM:617899 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Lower limb spasticity, Ataxia, Spastic tetraparesis, Spastic paraplegia, Dysmetria, Dysdiadochoki... |
OMIM:612319 |
Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Chorea, Impaired proprioception, Dysmetria, Progressive cerebellar ataxia, Dysdi... |
ORPHA:98755 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Axial hypotonia, Dystonia |
OMIM:619651 |
Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Hypotonia, Generalized hypotonia, Dystonia |
OMIM:618244 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Abnormal posturing, Spasticity, Dystonia |
OMIM:304700 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Progressive cerebellar ataxia, Hypotonia, Dystonia |
ORPHA:139485 |
Leukodystrophy, Hypomyelinating, 6 |
|
Axial hypotonia, Ataxia, Tremor, Rigidity, Hypotonia, Choreoathetosis, Dystonia, Spasticity |
OMIM:612438 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Dystonia, Ataxia, Dysmetria, Spastic dysarthria, EEG abnormality, Dysdiadochokinesis, Spastic par... |
ORPHA:313772 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Akinesia, Rigidity, Inability to walk, Gait ataxia, Shuffling gait, Dystonia, Sho... |
ORPHA:391411 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Ataxia, Oculogyric crisis, Rigidity, Chorea, Hypotonia, Opisthotonus, Choreoathetosis, Hypsarrhyt... |
ORPHA:13 |
Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Axial dystonia, Lower limb spasticity, Dystonia, Ataxia, Head titubation, Inability to walk, Chor... |
ORPHA:300605 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Chorea, Multifocal epileptiform discharges, Athetosis, Generalized hypotonia, Dystonia, Spasticity |
OMIM:617493 |
Raynaud-Claes Syndrome |
|
Lower limb spasticity, Hypotonia, Progressive cerebellar ataxia, Generalized hypotonia, Dystonia |
OMIM:300114 |
Huntington Disease-Like 3 |
|
Ataxia, Chorea, Unsteady gait, Dystonia, Spasticity |
OMIM:604802 |
Spastic Paraplegia 47, Autosomal Recessive |
|
Waddling gait, Inability to walk, Spastic paraplegia, Hypertonia, Dystonia, Neonatal hypotonia, S... |
OMIM:614066 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Chorea, EEG abnormality, Generalized hypotonia, Dystonia, Spasticity |
OMIM:613970 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7 |
|
Hypotonia, Dystonia |
OMIM:620359 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Shuffling g... |
ORPHA:53351 |
Dystonia 34, Myoclonic |
|
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Head tremor, Dystonia |
OMIM:619724 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Spasticity, Ataxia, Hand tremor, Dystonia |
OMIM:615889 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dystonia, Ataxia, Head titubation, Hypotonia, Dysmetria, Truncal ataxia |
OMIM:250620 |
Aicardi-Goutieres Syndrome 2 |
|
Spastic paraplegia, Dystonia |
OMIM:610181 |
Leukodystrophy, Hypomyelinating, 21 |
|
Athetosis, Ataxia, Dystonia |
OMIM:619310 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Ataxia, Unsteady gait, Spastic paraplegia, Spastic tetraplegia, Dystonia, Neonatal hypotonia |
OMIM:245349 |
Spastic Ataxia 3, Autosomal Recessive |
|
Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Dystonia, Loss of ambulation, Spasticity |
OMIM:611390 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Axial hypotonia, Ataxia, Choreoathetosis, Dystonia, Spasticity, Limb hypertonia |
OMIM:615905 |
Corticobasal Syndrome |
|
Somatic sensory dysfunction, Dystonia, Akinesia, Tremor, Gait disturbance, Limb dystonia, Progres... |
ORPHA:454887 |
Developmental And Epileptic Encephalopathy 44 |
|
Athetosis, Spasticity, Axial hypotonia, Dystonia |
OMIM:617132 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Severe muscular hypotonia, Tremor, Rigidity, Choreoathetosis, Generalized hypotonia, Dystonia, Li... |
OMIM:233910 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Falls, Rigidity, Dystonia |
ORPHA:240085 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Impaired proprioception, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Po... |
OMIM:277460 |
Familial Paroxysmal Ataxia |
|
Torticollis, Ataxia, Dystonia |
ORPHA:97 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Tremor, Rigidity, Chorea, Choreoathetosis, Blepharospasm, Dystonia, Spast... |
OMIM:606159 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Spasticity, Ataxia, Hypotonia, Dystonia |
OMIM:620094 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Lower limb spasticity, Dystonia, Gait disturbance, Impaired vibration sensation at ankles |
ORPHA:101006 |
Aicardi-Goutieres Syndrome 6 |
|
Loss of ambulation, Rigidity, Tremor, Dystonia |
OMIM:615010 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, ... |
OMIM:208920 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Action tremor, Dystonia |
OMIM:606438 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Spastic paraparesis, Spasticity |
OMIM:614487 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Facial hypotonia, Hypotonia, Spastic dysarthria, Difficulty walking, Dystonia, Spa... |
ORPHA:280763 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Spastic tetraplegia, Choreoathetosis, Generalized hypotonia, Dystonia, Spasticity |
OMIM:618238 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Axial hypotonia, Chorea, Choreoathetosis, EEG abnormality, Hypertonia, Dystonia, Spasticity |
OMIM:618451 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Rigidity, Inability to walk, Chorea, Dystonia, Spasticity |
OMIM:617672 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Dystonia, Ataxia, Episodic generalized hypotonia, Hypotonia, Dysmetria, Gait ataxia, Arm dystonia... |
OMIM:601338 |
Developmental And Epileptic Encephalopathy 1 |
|
Axial hypotonia, Spastic tetraparesis, EEG with burst suppression, Hypsarrhythmia, Choreoathetosi... |
OMIM:308350 |
Infantile Dystonia-Parkinsonism |
|
Axial hypotonia, Oculogyric crisis, Chorea, Hypertonia, Dystonia, Limb hypertonia |
ORPHA:238455 |
Leber Optic Atrophy And Dystonia |
|
Athetosis, Spasticity, Dystonia |
OMIM:500001 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Axial hypotonia, Ataxia, Tremor, Rigidity, Choreoathetosis, Hypertonia, Dystonia, Limb hypertonia |
OMIM:261640 |
Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Blepharospasm, Oromandibular dystonia |
OMIM:602124 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Head titubation, Inability to walk, Tremor, Rigidity, Hypotonia, Gait ataxia, Choreoath... |
OMIM:618877 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Tremor, Generalized hypotonia, Difficulty walking, Dystonia |
ORPHA:306669 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Dystonia |
OMIM:300857 |
Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Inability to walk, Chorea, Impaired proprioception, Dy... |
ORPHA:95 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hypotonia, Dystonia |
ORPHA:139406 |
Primary Dystonia, Dyt4 Type |
|
Torticollis, Generalized dystonia, Upper limb postural tremor, Blepharospasm, Dysdiadochokinesis,... |
ORPHA:98805 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Choreoathetosis, Ataxia, Generalized hypotonia, Dystonia |
OMIM:618416 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Choreoathetosis, Inability to walk, Hypotonia, Dystonia |
OMIM:618497 |
Hypermanganesemia With Dystonia 2 |
|
Axial hypotonia, Generalized dystonia, Dystonia, Tremor, Inability to walk, Scissor gait, Hypoton... |
OMIM:617013 |
Huntington Disease-Like 1 |
|
Chorea, Dysmetria, Gait ataxia, EEG abnormality, Gait disturbance, Generalized hypotonia, Abnorma... |
ORPHA:157941 |
Continuous Spikes And Waves During Sleep |
|
Dystonia, EEG with generalized polyspikes, EEG with centrotemporal focal spike waves, Interictal ... |
ORPHA:725 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Axial hypotonia, Truncal titubation, Inability to walk, Chorea, Rigidity, Opisthotonus, Gait atax... |
OMIM:607483 |
Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Inability to walk, Chorea, Gait ataxia, Dystonia, Spasticity |
OMIM:618917 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Gait disturbance, Dystonia, Spasticity |
ORPHA:542310 |
3-Methylglutaconic Aciduria, Type I |
|
Ataxia, Spastic tetraplegia, Athetosis, Dystonia, Spasticity |
OMIM:250950 |
Progressive Myoclonic Epilepsy With Dystonia |
|
EEG with irregular generalized spike and wave complexes, Generalized neonatal hypotonia, Dystonia |
ORPHA:352596 |
Ataxia-Telangiectasia-Like Disorder |
|
Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Generalized hypotonia, Dystonia, Inte... |
ORPHA:251347 |
16P11.2P12.2 Microduplication Syndrome |
|
Dystonia |
ORPHA:261204 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Choreoathetosis, EEG abnormality, Dystonia, Limb hypertonia |
OMIM:618247 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Dysmetria, Dysdiadochokinesis, Hypertonia, Gait disturbance, Dystonia |
ORPHA:96 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Chorea, Difficulty walking, Dystonia, Progressive extrapyramidal muscular... |
ORPHA:401768 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Rigidity, Resting tremor, Dystonia |
OMIM:605909 |
Spinocerebellar Ataxia Type 6 |
|
Unsteady gait, Gait ataxia, Blepharospasm, Progressive cerebellar ataxia, Dystonia, Intention tremor |
ORPHA:98758 |
Aicardi-Goutieres Syndrome 3 |
|
Spasticity, Hypotonia, Generalized hypotonia, Dystonia |
OMIM:610329 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Tremor, Chorea, Hypertonia, Dystonia, Action tremor |
OMIM:619738 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Axial hypotonia, Ataxia, Unsteady gait, Difficulty walking,... |
ORPHA:464282 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Head titubation, Inability to wal... |
OMIM:312080 |
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Lower limb spasticity, Ataxia, Dysmetria, Lower limb hypertonia, Difficulty walking, Dystonia, In... |
ORPHA:438114 |
Sulfite Oxidase Deficiency, Isolated |
|
Axial hypotonia, Ataxia, Generalized dystonia, Multifocal epileptiform discharges, Choreoathetosi... |
OMIM:272300 |
Huntington Disease-Like 3 |
|
Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Progressive gait ataxia, Dystonia, Sp... |
ORPHA:157946 |
Posttransplant Acute Limbic Encephalitis |
|
EEG with abnormally slow frequencies, EEG with focal epileptiform discharges, Ataxia, Dystonia |
ORPHA:163921 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Akinesia, Rigidity, Dystonia, Freezing of gait |
OMIM:619911 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Axial hypotonia, Ataxia, Inability to walk, Multifocal epileptiform discharges, Dysmetria, Dyston... |
OMIM:618087 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Axial hypotonia, Ataxia, Facial hypotonia, Tremor, Spastic paraplegia, Spastic te... |
OMIM:300055 |
Pontocerebellar Hypoplasia, Type 14 |
|
Hypotonia, Hypertonia, Spastic tetraplegia, Dystonia |
OMIM:619301 |
Developmental And Epileptic Encephalopathy 16 |
|
Severe muscular hypotonia, Hypotonia, Dystonia |
OMIM:615338 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Generalized dystonia, Ataxia, EEG with abnormally slow frequencies, Inability to walk, Chorea, Hy... |
ORPHA:70472 |
Leukodystrophy, Hypomyelinating, 9 |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Dysmetria, Dystonia, Intention tremor |
OMIM:616140 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation |
OMIM:619405 |
Lopes-Maciel-Rodan Syndrome |
|
Axial hypotonia, Tremor, Unsteady gait, Hypertonia, Dystonia, Spasticity |
OMIM:617435 |
Spinocerebellar Ataxia 21 |
|
Ataxia, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cereb... |
OMIM:607454 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Rigidity, Chorea, Hypotonia, Blepharospasm, Athetosis, Gait disturbance, Dystonia, Loss o... |
OMIM:617282 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Postural tremor, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation, Spasticity |
OMIM:607694 |
Autosomal Dominant Spastic Paraplegia Type 9B |
|
Postural tremor, Hypotonia, Focal dystonia, Spastic dysarthria, Progressive gait ataxia, Loss of ... |
ORPHA:447757 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Akinesia, Tremor, Rigidity, Spastic paraplegia, Distal sensory impairment, H... |
OMIM:606693 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Limb dystonia, Oromandibular... |
ORPHA:420485 |
Spinocerebellar Ataxia Type 8 |
|
Impaired vibratory sensation, Ataxia, Rigidity, Unsteady gait, Limb ataxia, Gait ataxia, Spastic ... |
ORPHA:98760 |
Baralle-Macken Syndrome |
|
Neonatal hypotonia, Inability to walk, Spasticity, Dystonia |
OMIM:619255 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hypotonia, Hypertonia, Spastic tetraplegia, Dystonia |
OMIM:619302 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Somatic sensory dysfunction, Ataxia, Dystonia |
ORPHA:459033 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Ataxia, Hypotonia, Dystonia |
OMIM:246900 |
Spinocerebellar Ataxia Type 3 |
|
Progressive cerebellar ataxia, Dystonia |
ORPHA:98757 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Ataxia, Postural tremor, Impaired distal proprioception, Impaired vibration sensation in the lowe... |
ORPHA:447896 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Axial hypotonia, Ataxia, Tremor, Choreoathetosis, Dystonia |
OMIM:619422 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Tremor, Inability to walk, Focal dysto... |
ORPHA:52368 |
Episodic Ataxia, Type 2 |
|
Episodic ataxia, Progressive cerebellar ataxia, Paresthesia, Dystonia |
OMIM:108500 |
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Head titubation, Hypotonia, Truncal ataxia, Hypsarrhythmia, Dystonia |
ORPHA:88639 |
Leukodystrophy, Hypomyelinating, 15 |
|
Ataxia, Athetosis, Dystonia, Loss of ambulation, Spasticity, Intention tremor |
OMIM:617951 |
4H Leukodystrophy |
|
Ataxia, Tremor, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Dystonia |
ORPHA:289494 |
Spinocerebellar Ataxia Type 18 |
|
Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor |
ORPHA:98771 |
Harel-Yoon Syndrome |
|
Axial hypotonia, Ataxia, Inability to walk, Hypotonia, Dystonia, Spasticity |
OMIM:617183 |
Developmental And Epileptic Encephalopathy 38 |
|
Axial hypotonia, Ataxia, Hypsarrhythmia, Dystonia, Limb hypertonia |
OMIM:617020 |
Foxg1 Syndrome |
|
Inability to walk, Hypotonia, Choreoathetosis, Difficulty walking, Dystonia, Spasticity |
ORPHA:561854 |
Dystonia 26, Myoclonic |
|
Blepharospasm, Torticollis, Laryngeal dystonia, Dystonia |
OMIM:616398 |
Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Chorea, Spastic tetraplegia, Hypotonia, Gait disturb... |
OMIM:250100 |
Combined Oxidative Phosphorylation Deficiency 35 |
|
EEG abnormality, Spasticity, Generalized hypotonia, Dystonia |
OMIM:617873 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Axial hypotonia, Spastic tetraparesis, Hypotonia, EEG abnormality, Dystonia |
OMIM:617668 |
Gm1-Gangliosidosis, Type Iii |
|
Ataxia, Dystonia |
OMIM:230650 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxi... |
ORPHA:101 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Chorea, Cogwheel rigidity, Dystonia, Intention tremor |
OMIM:619725 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Inability to walk, Generalized hypotonia, Difficulty walking, Dystonia |
OMIM:611890 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Dystonia, Ataxia, Tremor, Gait apraxia, Limb ataxia, Dysmetria, Gait ataxia, Dysd... |
OMIM:615157 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Extrapyramidal muscular rigidity, Tremor, Rigidity, Unsteady gait, Focal dystonia, Blepharospasm,... |
ORPHA:99750 |
Autosomal Recessive Spastic Paraplegia Type 75 |
|
Impaired vibratory sensation, Spastic paraplegia, Dysmetria, Titubation, Generalized hypotonia, S... |
ORPHA:459056 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Truncal ataxia, Dystonia, Neonatal hypotonia, Spasticity |
OMIM:252011 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Hypotonia, Choreoathetosis, Generalized hypotonia, Dystonia, Episodic ataxia |
OMIM:312170 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Dystonia, Rigidity, Hand tremor, Gait disturbance, Shuffling gait, Spastic paraparesis, Spasticity |
ORPHA:289560 |
Hereditary Methemoglobinemia |
|
Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, Spasticity |
ORPHA:621 |
Dystonia 28 |
|
Torticollis, Generalized dystonia, Leg dystonia, Arm dystonia, Oromandibular dystonia |
ORPHA:589618 |
Kcnq2-Related Epileptic Encephalopathy |
|
Inability to walk, EEG with burst suppression, Hypotonia, Hypsarrhythmia, Dystonia |
ORPHA:439218 |
Autosomal Recessive Spastic Paraplegia Type 78 |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Progressive spastic quadriplegia, Difficu... |
ORPHA:513436 |
Alzheimer Disease 3 |
|
Dystonia, Gait disturbance, Spastic tetraparesis, Optic ataxia |
OMIM:607822 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Neonatal hypotonia, Hypertonia, Hypotonia, Dystonia |
OMIM:264470 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Generalized dystonia |
OMIM:619025 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Tremor, Inability to walk, Hypotonia, Choreoathetosis, Dystonia, Spasticity |
OMIM:617664 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Rigidity, Gait disturbance, Dystonia |
OMIM:600795 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Ataxia, Postural tremor, Choreoathetosis, Gait imbalance, Head tremo... |
ORPHA:64753 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Tremor, Chorea, Unsteady gait, Dysmetria, Gait ataxia, Titubation, T... |
ORPHA:397946 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Axial hypotonia, Decreased nerve conduction velocity, Choreoathetosis, Lower limb hypertonia, Gen... |
ORPHA:319514 |
Pyruvate Dehydrogenase Deficiency |
|
Ataxia, Tremor, Hypotonia, Choreoathetosis, Gait disturbance, Dystonia, Spasticity |
ORPHA:765 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
EEG abnormality, Progressive cerebellar ataxia, Dystonia |
OMIM:618868 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Facial hypotonia, Hypotonia, Gait ataxia, Difficulty walking, Dystonia, Spasticity |
OMIM:617807 |
Developmental And Epileptic Encephalopathy 84 |
|
Axial hypotonia, EEG with burst suppression, Chorea, Opisthotonus, Hypsarrhythmia, Generalized hy... |
OMIM:618792 |
Rasmussen Subacute Encephalitis |
|
Hemidystonia, Inability to walk, Increased theta frequency activity in EEG, EEG with focal epilep... |
ORPHA:1929 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Spastic tetraplegia, Generalized hypotonia, Dystonia |
OMIM:618237 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Axial hypotonia, Oculogyric crisis, Tremor, Rigidity, Dystonia, Limb hypertonia |
ORPHA:70594 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Loss of ambulation, Gait disturbance, Dystonia |
OMIM:167320 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Tremor, Rigidity, Focal dystonia, Progressive extrapyramidal muscula... |
ORPHA:240103 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Axial hypotonia, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dystonia,... |
OMIM:617710 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Chorea, Progressive spastic quadriplegia, Dystonia, Infantile axial... |
ORPHA:309246 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Chorea, Hypotonia, Hypertoni... |
OMIM:272750 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
Dystonia |
OMIM:250850 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Choreoathetosis, Chorea, Hypotonia, Dystonia |
ORPHA:289916 |
Leukodystrophy, Hypomyelinating, 20 |
|
Torticollis, Hypertonia, Spastic tetraplegia, Dystonia |
OMIM:619071 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Dystonia, Tremor, Chorea, Impaired distal vibration se... |
OMIM:606002 |
Neuroferritinopathy |
|
Resting tremor, Writer's cramp, Chorea, Leg dystonia, Focal dystonia, Blepharospasm, Arm dystonia... |
ORPHA:157846 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Tremor, Dystonia, Rigidity, Spastic paraparesis |
ORPHA:329284 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Hypotonia, Dystonia, Spasticity |
OMIM:617854 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Spasticity, Intention tremor |
OMIM:614381 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Axial hypotonia, Ataxia, Hypotonia, Generalized hypotonia, Dystonia |
OMIM:618226 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Axial dystonia, Generalized hypotonia, Dystonia |
OMIM:618230 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ataxia, Inability to walk, EEG with focal sharp waves, Hypotonia, Hypsarrhythmia, EEG with genera... |
ORPHA:79243 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Spastic hemiparesis, Hypotonia, Spastic tetraplegia, Dystonia, Spasticity |
OMIM:619616 |
Liang-Wang Syndrome |
|
Axial hypotonia, Ataxia, Dystonia |
OMIM:618729 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dystonia, Hypertonia, Infantile muscular hypotonia |
ORPHA:26792 |
Rett Syndrome |
|
Gait apraxia, Truncal ataxia, Gait ataxia, EEG abnormality, Dystonia, Spasticity |
OMIM:312750 |
Infantile Neuroaxonal Dystrophy |
|
Axial hypotonia, Ataxia, Spastic tetraparesis, Unsteady gait, Gait disturbance, Progressive spast... |
ORPHA:35069 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Rigidity, Limb ataxia, Gait at... |
ORPHA:227510 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Spasticity, Hypotonia, Generalized hypotonia, Dystonia |
OMIM:616277 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Hypotonia, Truncal ataxia, Generalized hypotonia, Dystonia, Intention tremor |
OMIM:614407 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Akinesia, Tremor, Blepharospasm, Falls, Gait imbalance, Dystonia, Progressive ext... |
ORPHA:240071 |
Dystonia-Deafness Syndrome 1 |
|
Loss of ambulation, Leg dystonia, Generalized dystonia, Oculogyric crisis |
OMIM:607371 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Hypotonia, Choreoathetosis, Gait disturbance, Dystonia, Spasticity |
ORPHA:702 |
Leber Optic Atrophy |
|
Postural tremor, Ataxia, Dystonia |
OMIM:535000 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Gait ataxia, Progressive gait ataxia, Tip-toe gait, Decerebr... |
ORPHA:309256 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
EEG abnormality, Hypotonia, Generalized hypotonia, Dystonia |
OMIM:617268 |
Huntington Disease |
|
Rigidity, Inability to walk, Chorea, Gait disturbance, Gait imbalance, Difficulty walking, Dystonia |
ORPHA:399 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Rigidity, Gait ataxia, Progressive cerebellar at... |
ORPHA:102 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Inability to walk, Hypotonia, Generalized hypotonia, Dystonia, Spasticity |
OMIM:614739 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Generalized dystonia, Ataxia, Postural tremor, Rigidity, Impaired vibration sensatio... |
ORPHA:98808 |
Leigh Syndrome |
|
Ataxia, Hypotonia, Generalized hypotonia, Dystonia, Spasticity |
OMIM:256000 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Akinesia, Tremor, Rigidity, Dystonia, Spastic paraparesis |
OMIM:300894 |
Allan-Herndon-Dudley Syndrome |
|
Axial hypotonia, Ataxia, Spastic tetraplegia, Choreoathetosis, Dystonia, Neonatal hypotonia, Spas... |
ORPHA:59 |
Ataxia-Oculomotor Apraxia 4 |
|
Impaired vibratory sensation, Ataxia, Dystonia |
OMIM:616267 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Dystonia, Impaired distal proprioception, Rigidity, Impaired distal vibration sensation, Limb ata... |
OMIM:258450 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Broad-based gait, Hypertonia, Gait disturbance, Arm dystonia, Difficulty wal... |
ORPHA:79244 |
Hengel-Maroofian-Schols Syndrome |
|
Inability to walk, Hypotonia, Gait imbalance, Dystonia, Spasticity |
OMIM:619641 |
X-Linked Creatine Transporter Deficiency |
|
Ataxia, Chorea, Hypotonia, Athetosis, Hypertonia, Dystonia |
ORPHA:52503 |
Developmental And Epileptic Encephalopathy 86 |
|
Generalized hypotonia, Dystonia |
OMIM:618910 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Spasticity, Ataxia, Dystonia |
OMIM:617341 |
Siddiqi Syndrome |
|
Limb dystonia |
OMIM:618635 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm |
OMIM:606324 |
Kaya-Barakat-Masson Syndrome |
|
Axial hypotonia, Spastic tetraplegia, Generalized hypotonia, Limb dystonia, Spasticity |
OMIM:619125 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Ataxia, Hypotonia, Choreoathetosis, Dystonia, Spasticity |
OMIM:616034 |
Christianson Syndrome |
|
Dystonia, Truncal ataxia, Gait ataxia |
ORPHA:85278 |
Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Inability to walk, Chorea, Hypotonia, Dystonia, Limb hypertonia |
OMIM:618004 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Tremor, Oromandibular dystonia, Gait disturbance, Dystonia, Loss of... |
OMIM:614298 |
Manganese Poisoning |
|
Postural tremor, Akinesia, Cogwheel rigidity, Hypertonia, Gait disturbance, Dystonia |
ORPHA:306682 |
Gaucher Disease Type 2 |
|
Spasticity, Dystonia |
ORPHA:77260 |
Machado-Joseph Disease |
|
Impaired vibratory sensation, Dystonia, Ataxia, Rigidity, Limb ataxia, Progressive cerebellar ata... |
OMIM:109150 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Rigidity, Gait ataxia, Progressive cerebellar at... |
ORPHA:98933 |
Mucolipidosis Iv |
|
Hypotonia, Spastic tetraplegia, Generalized hypotonia, Dystonia |
OMIM:252650 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Blepharospasm, Falls, Dystonia |
ORPHA:683 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Hypotonia, Dysmetria, Gait ... |
OMIM:617988 |
Perry Syndrome |
|
Akinesia, Tremor, Rigidity, Dystonia, Short stepped shuffling gait |
OMIM:168605 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Dystonia, Ataxia, Tremor, Inability to walk, Chorea, Hypotonia, Athetosis, EEG abn... |
OMIM:615356 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Rigidity, Gait disturbance, Shuffling gait, Dystonia, Loss of ambulation |
OMIM:168601 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Axial hypotonia, Exaggerated startle response, Oculogyric crisis, Limb tremor, Chore... |
OMIM:608643 |
Classic Galactosemia |
|
Postural tremor, Ataxia, Gait disturbance, Gait imbalance, Dystonia, Action tremor |
ORPHA:79239 |
Hypermanganesemia With Dystonia 1 |
|
Tremor, Rigidity, Steppage gait, Dystonia, Spastic paraparesis |
OMIM:613280 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Blepharospasm, Limb dystonia, Lingual dystonia, Laryngeal dyst... |
ORPHA:93958 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Tremor, Gait ataxia, Limb dystonia, Spasticity |
ORPHA:363400 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Axial hypotonia, Head titubation, Vestibular areflexia, Spas... |
ORPHA:3240 |
Developmental And Epileptic Encephalopathy 29 |
|
Axial hypotonia, Chorea, Blepharospasm, Limb dystonia, Spasticity |
OMIM:616339 |
Myopathy With Extrapyramidal Signs |
|
Ataxia, Tremor, Chorea, Hypotonia, Choreoathetosis, Difficulty walking, Dystonia |
OMIM:615673 |
Glutaric Acidemia I |
|
Rigidity, Hypotonia, Spastic diplegia, Opisthotonus, Choreoathetosis, Generalized hypotonia, Dyst... |
OMIM:231670 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Akinesia, Tremor, Rigidity, Chorea, Limb ataxia, Gait ataxia, Blepharospasm,... |
ORPHA:48818 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Choreoathetosis, Hypotonia, Dystonia |
ORPHA:79312 |
Pontocerebellar Hypoplasia, Type 9 |
|
Axial hypotonia, Facial hypotonia, Hypertonia, Dystonia, Spasticity |
OMIM:615809 |
Pontocerebellar Hypoplasia Type 2 |
|
Paroxysmal dystonia, Choreoathetosis, Lower limb hypertonia, Upper limb hypertonia, Infantile axi... |
ORPHA:2524 |
Parkinson Disease 20, Early-Onset |
|
Tremor, Rigidity, Gait disturbance, Shuffling gait, Dystonia, Short stepped shuffling gait |
OMIM:615530 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypertonia, Hypotonia, Generalized hypotonia, Dystonia |
OMIM:614654 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Paroxysmal dystonia, Lower limb spasticity, Axial hypotonia, Progressive spastic paraplegia, Scis... |
ORPHA:466722 |
Lipoyltransferase 1 Deficiency |
|
Axial hypotonia, Hypotonia, Spastic tetraparesis, Dystonia |
OMIM:616299 |
Rett Syndrome |
|
Inability to walk, EEG abnormality, Gait disturbance, Difficulty walking, Dystonia, Infantile mus... |
ORPHA:778 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Tremor, Rigidity, Dystonia, Short stepped shuffling gait |
OMIM:168600 |
Amyotrophic Dystonic Paraplegia |
|
Spastic paraplegia, Dystonia |
OMIM:105300 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ataxia, Dystonia, Ne... |
ORPHA:431361 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Loss of ability to walk in early childhood, Inability to walk, Hypotonia, Athetosis, Dystonia, Sp... |
OMIM:612073 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Progressive gait ataxia, Decerebrate rigidity, Generalized h... |
ORPHA:309263 |
Deafness, Dystonia, And Cerebral Hypomyelination |
|
Dystonia |
OMIM:300475 |
Autosomal Recessive Ataxia, Beauce Type |
|
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Dysmetria, Arm dystonia, Gait distur... |
ORPHA:88644 |
Pontocerebellar Hypoplasia, Type 2B |
|
Axial hypotonia, Chorea, Hypotonia, Opisthotonus, Dystonia, Spasticity, Limb hypertonia |
OMIM:612389 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Severe muscular hypotonia, Chorea, Hypotonia, Multifocal epileptiform discharges, Opisthotonus, D... |
OMIM:616672 |
Birk-Landau-Perez Syndrome |
|
Axial hypotonia, Facial hypotonia, Limb ataxia, Choreoathetosis, Appendicular hypotonia, Difficul... |
OMIM:617595 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Tremor, Spastic diplegia, Generalized hypotonia, Dystonia |
ORPHA:480907 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Broad-based gait, Exaggerated startle response, Facial hypotonia, Ataxia, Severe muscular hypoton... |
ORPHA:438216 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Akinesia, Rigidity, Limb dystonia, Spasticity |
OMIM:616840 |
Hsd10 Disease, Infantile Type |
|
Spastic tetraparesis, Hypotonia, Spastic diplegia, Choreoathetosis, Dystonia, Loss of ambulation |
ORPHA:391428 |
Metachromatic Leukodystrophy, Adult Form |
|
Dystonia, Decreased nerve conduction velocity, Chorea, Progressive spastic quadriplegia, Progress... |
ORPHA:309271 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Generalized dystonia, Progressive spastic paraparesis, Progressive spastic quadriplegia, Progress... |
ORPHA:329308 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Axial hypotonia, Ataxia, Generalized dystonia, Chorea, Spastic tetraplegia, Gait ataxia, Hypsarrh... |
OMIM:618321 |
Dystonia 21 |
|
Blepharospasm, Torticollis, Laryngeal dystonia |
OMIM:614588 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Hypertonia, Dystonia, Spasticity, Intention t... |
OMIM:610217 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Writer's cramp, Impaired vibration sensation in the lower limbs, Steppage gait, Paresthesia, Gait... |
ORPHA:324442 |
Bilateral Generalized Polymicrogyria |
|
Axial hypotonia, Oculogyric crisis, Spastic tetraplegia, Dystonia, Spasticity |
ORPHA:208447 |
Niemann-Pick Disease, Type C1 |
|
Ataxia, Hypotonia, Gait ataxia, Generalized hypotonia, Dystonia, Spasticity |
OMIM:257220 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Axial dystonia, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction vel... |
OMIM:619026 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Broad-based gait, Dystonia, Ataxia, Hypotonia, Choreoathetosis, Generalized hypotonia, Difficulty... |
OMIM:610978 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Dystonia, Ataxia, Severe muscular hypotonia, Tremor, Rigidity, Chorea, Athetosis, Limb dystonia |
ORPHA:25 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Dystonia, Rigidity, Leg dystonia, Choreoathetosis, Tip-toe gait, Gait disturbance, Limb dystonia,... |
ORPHA:157850 |
Combined Malonic And Methylmalonic Acidemia |
|
Axial hypotonia, Dystonia |
ORPHA:289504 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Ataxia, Inability to walk, Hypotonia, Athetosis, Dystonia, Spasticity |
ORPHA:357058 |
Parkinson Disease 14, Autosomal Recessive |
|
Axial dystonia, Resting tremor, Upper limb postural tremor, Tremor, Rigidity, Hand tremor, Pill-r... |
OMIM:612953 |
Isolated Atp Synthase Deficiency |
|
Spastic paraplegia, Ataxia, Hypotonia, Dystonia |
ORPHA:254913 |
Dystonia-Aphonia Syndrome |
|
Oromandibular dystonia, Unsteady gait, Gait disturbance, Generalized dystonia |
ORPHA:412217 |
Postencephalitic Parkinsonism |
|
Resting tremor, Oculogyric crisis, Akinesia, Rigidity, Cogwheel rigidity, Paresthesia, Tremor by ... |
ORPHA:97349 |
Metachromatic Leukodystrophy |
|
Ataxia, Tremor, Decreased nerve conduction velocity, Tip-toe gait, Gait disturbance, Decerebrate ... |
ORPHA:512 |
Rett Syndrome, Congenital Variant |
|
Chorea, Athetosis, EEG abnormality, Generalized hypotonia, Dystonia, Neonatal hypotonia, Spasticity |
OMIM:613454 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Lower limb spasticity, Infantile axial hypotonia, Decreased nerve conduction velocity, Leg dyston... |
ORPHA:565624 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Spastic ataxia, Hypotonia, Generalized hypotonia, Dystonia |
OMIM:277410 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Head titubation, Spasticity, Spastic diplegia, Craniofacial dystonia |
OMIM:619691 |
Aicardi-Goutieres Syndrome 4 |
|
Spasticity, Dystonia |
OMIM:610333 |
Sandifer Syndrome |
|
Abnormal posturing, Torticollis |
ORPHA:71272 |
Choreoacanthocytosis |
|
Progressive choreoathetosis, Dystonia |
OMIM:200150 |
Cimdag Syndrome |
|
Ataxia, Chorea, Hypotonia, Dystonia, Spasticity |
OMIM:619273 |
Developmental And Epileptic Encephalopathy 51 |
|
Inability to walk, Hypotonia, Dystonia |
OMIM:617339 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Gait disturbance, Dystonia |
OMIM:617903 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Spasticity, Generalized dystonia |
OMIM:618235 |
Pontocerebellar Hypoplasia, Type 2A |
|
Chorea, Dystonia, Opisthotonus |
OMIM:277470 |
Machado-Joseph Disease Type 1 |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Spasticity, Dystonia |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Spasticity, Dystonia |
ORPHA:276241 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Limb dystonia, Inability to walk, EEG with frontal sharp slow waves, Hypsarrhythmia, EEG abnormal... |
ORPHA:457351 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Ataxia, Hypotonia, Dystonia |
OMIM:616977 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Broad-based gait, Axial hypotonia, Hypotonia, Hypertonia, Gait disturbance, Dystonia, Neonatal hy... |
OMIM:300352 |
Parkinsonian-Pyramidal Syndrome |
|
Rigidity, Shuffling gait, Dystonia, Spasticity, Intention tremor |
ORPHA:171695 |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Spasticity, Dystonia |
OMIM:607236 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Tremor, Hypotonia, Opisthotonus, Choreoathetosis, Dystonia, Neonatal hypotonia, Spasticity |
OMIM:616271 |
Tay-Sachs Disease |
|
Exaggerated startle response, Dystonia, Tremor, Inability to walk, Dysmetria, Gait disturbance, D... |
ORPHA:845 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Dystonia |
OMIM:616113 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Spastic tetraparesis, Dystonia |
ORPHA:404451 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, EEG with focal spikes, Increased theta frequency activity in EEG, Interictal... |
ORPHA:98784 |
Young-Onset Parkinson Disease |
|
Tremor, Rigidity, Gait imbalance, Dystonia, Spasticity |
ORPHA:2828 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Hypsarrhythmia, Generalized hypotonia, Dystonia |
OMIM:607906 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Spasticity, Hypotonia, Dystonia |
OMIM:614702 |
Lesch-Nyhan Syndrome |
|
Hypotonia, Opisthotonus, Choreoathetosis, Dystonia, Spasticity |
OMIM:300322 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Dystonia |
ORPHA:453533 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Axial hypotonia, Hypsarrhythmia, Dystonia |
OMIM:617669 |
Caribbean Parkinsonism |
|
Rigidity, Progressive gait ataxia, Action tremor, Dystonia |
ORPHA:97355 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Difficulty walking, Limb dystonia, Inf... |
ORPHA:572798 |
Filippi Syndrome |
|
Dystonia |
OMIM:272440 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Spasticity, Hypotonia, Dystonia |
OMIM:619286 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Ataxia, Tremor, Unsteady gait, Hypotonia, Gait disturbance, Decerebrate rig... |
ORPHA:354 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing, Hypotonia |
OMIM:614857 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Neonatal hypotonia, Chorea, Dystonia |
OMIM:618829 |
Leukodystrophy, Progressive, Early Childhood-Onset |
|
Appendicular spasticity, Axial hypotonia, Dystonia |
OMIM:617762 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Spastic tetraplegia, Spastic diplegia, Gait ataxia, Gait disturbance, Generalized hypoton... |
OMIM:616878 |
Machado-Joseph Disease Type 3 |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Spasticity, Dystonia |
ORPHA:276244 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ataxia, Hypotonia, Dystonia |
OMIM:619167 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Dystonia, Rigidity, Dysdiadochokinesis, Hypertonia, Gait disturbance, Difficulty walking, Truncal... |
ORPHA:309854 |
Coach Syndrome 1 |
|
Ataxia, Hypotonia, Generalized hypotonia, Dystonia, Spasticity |
OMIM:216360 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Axial hypotonia, Limb dystonia |
OMIM:620269 |
Dilated Cardiomyopathy With Ataxia |
|
Lower limb spasticity, Ataxia, Dystonia, Neonatal hypotonia, Action tremor |
ORPHA:66634 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Ataxia, Inability to walk, Chorea, Hypotonia, Dystonia |
OMIM:617804 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Falls, Hypotonia, Difficulty walking, Dystonia |
OMIM:618222 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Generalized dystonia, Spastic tetraparesis, Dystonia |
OMIM:620358 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Chorea, EEG with focal sharp waves, Choreoathetosis, EEG abnormality, EEG with series of ... |
ORPHA:522077 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Spasticity, Dystonia |
OMIM:618186 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Head titubation, Dysmetria, Dystonia, Intention tremor |
OMIM:619708 |
Alg3-Cdg |
|
Hypertonia, Hypotonia, Spastic tetraparesis, Dystonia |
ORPHA:79321 |
Early Infantile Epileptic Encephalopathy |
|
Tremor, EEG with burst suppression, Hypsarrhythmia, Choreoathetosis, EEG abnormality, Uni- and bi... |
ORPHA:1934 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Inability to walk, Spastic tetraplegia, Spastic diplegia, Dystonia, ... |
ORPHA:300570 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Spasticity, Axial hypotonia, Hypsarrhythmia, Dystonia |
ORPHA:500144 |
Mcleod Syndrome |
|
Chorea, Dystonia, Impaired vibration sensation at ankles |
OMIM:300842 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Tremor, EEG with burst suppression, Cogwheel rigidity,... |
ORPHA:79139 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Spastic paraplegia, Dysmetria,... |
ORPHA:171629 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Akinesia, Rigidity, Shuffling gait, Dystonia |
ORPHA:411602 |
Beta-Ureidopropionase Deficiency |
|
Neonatal hypotonia, Hypsarrhythmia, Hypotonia, Dystonia |
OMIM:613161 |
Aicardi-Goutieres Syndrome 1 |
|
Inability to walk, Spasticity, Axial hypotonia, Dystonia |
OMIM:225750 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Limb dystonia, Inability to walk, EEG with burst suppression, EEG with temporal sharp slow waves,... |
OMIM:616973 |
Ataxia-Telangiectasia |
|
Ataxia, Tremor, Inability to walk, Choreoathetosis, Progressive cerebellar ataxia, Dysdiadochokin... |
OMIM:208900 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Dystonia, Axial hypotonia, Generalized hypotonia, Limb hypertonia |
OMIM:616875 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Axial hypotonia, Ataxia, Generalized dystonia, Opisthotonus, Hypsarrhythmia, Limb hypertonia, Spa... |
OMIM:618076 |
Wieacker-Wolff Syndrome |
|
Spasticity, Hypotonia, Generalized hypotonia, Dystonia |
OMIM:314580 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Facial hypotonia, Tremor, Rigidity, Chorea, Hypotonia, Choreoathetosis, EEG abnormality, ... |
ORPHA:2131 |
Supranuclear Palsy, Progressive, 1 |
|
Axial dystonia, Akinesia, Tremor, Rigidity, Falls, Gait imbalance, Retrocollis, Limb dystonia |
OMIM:601104 |
Niemann-Pick Disease, Type C2 |
|
Spasticity, Ataxia, Hypotonia, Dystonia |
OMIM:607625 |
Triosephosphate Isomerase Deficiency |
|
Tremor, Unsteady gait, Hypotonia, Generalized hypotonia, Dystonia, Spasticity |
OMIM:615512 |
Pontocerebellar Hypoplasia, Type 17 |
|
Paroxysmal dystonia, Axial hypotonia, Spastic tetraplegia, Limb hypertonia |
OMIM:619909 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Hypotonia, Spastic tetraplegia, Opisthotonus, Hypertonia, Limb dystonia, Spasticity |
OMIM:619847 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Hypotonia, Dystonia |
OMIM:614105 |
Supranuclear Palsy, Progressive, 2 |
|
Axial dystonia, Postural tremor, Akinesia, Rigidity, Falls, Gait imbalance, Retrocollis |
OMIM:609454 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Akinesia, Tremor, Rigidity, Choreoathetosis, Blepharospasm, Gait disturbance, Dystonia, S... |
OMIM:234200 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Rigidity, Hypotonia, Hypsarrhythmia, Progressive spastic quadripleg... |
ORPHA:521426 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Choreoathetosis, Ataxia, Hypotonia, Dystonia |
OMIM:615471 |
Hermansky-Pudlak Syndrome 10 |
|
EEG abnormality, Axial hypotonia, Generalized hypotonia, Dystonia |
OMIM:617050 |
Propionic Acidemia |
|
Dystonia, Axial hypotonia, Limb hypertonia |
OMIM:606054 |
Brain-Lung-Thyroid Syndrome |
|
Ataxia, Chorea, Choreoathetosis, Falls, Dystonia, Infantile muscular hypotonia, Intention tremor |
ORPHA:209905 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Ataxia, Progressive spasticity, Dystonia, Spasticity, Infantile muscular hypotonia |
ORPHA:496641 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Ataxia, Tremor, Spastic diplegia, Gait disturbance, Gait imbalance, Generalized hypotonia, Dyston... |
OMIM:300966 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Spasticity, Hypsarrhythmia, Dystonia |
OMIM:618397 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Facial hypotonia, Tremor, Hypotonia, Tip-toe gait, Dystonia |
OMIM:617557 |
Leigh Syndrome |
|
Dystonia, Ataxia, Chorea, Spastic diplegia, Hypsarrhythmia, Choreoathetosis, Athetosis, Infantile... |
ORPHA:506 |
Developmental And Epileptic Encephalopathy 89 |
|
Axial hypotonia, EEG with burst suppression, Hypsarrhythmia, Hypertonia, Dystonia, Spasticity |
OMIM:619124 |
Blepharonasofacial Malformation Syndrome |
|
Torsion dystonia |
ORPHA:1252 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Tremor, Neonatal hypotonia, Torticollis, Hemidystonia |
OMIM:619680 |
Pseudo-Torch Syndrome 1 |
|
Spasticity, Axial hypotonia, Hypotonia, Dystonia |
OMIM:251290 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Choreoathetosis, Dystonia |
ORPHA:261197 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Hypotonia, Dystonia |
OMIM:620167 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Ataxia, Tremor, Hypotonia, Generalized hypotonia, Dystonia, Neonatal hypotonia |
OMIM:610505 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Hypertonia, Ataxia, Dystonia |
ORPHA:480864 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Broad-based gait, Hypotonia, Dysdiadochokinesis, Dystonia |
OMIM:618891 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Spasticity, Generalized hypotonia, Dystonia |
OMIM:616811 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Dystonia, Ataxia, Chorea, Gait ataxia, Hypertonia, Infantile muscular hypotonia, Spasticity |
ORPHA:255210 |
Aicardi-Goutieres Syndrome 9 |
|
Axial hypotonia, Spastic tetraparesis, Spastic tetraplegia, Spastic diplegia, Lower limb hyperton... |
OMIM:619487 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Pain insensitivity, Broad-based gait, Ataxia, Hypotonia, Distal sensory impairment, Painless frac... |
OMIM:256810 |
Slc39A8-Cdg |
|
Inability to walk, Severe muscular hypotonia, Hypsarrhythmia, Dystonia |
ORPHA:468699 |
Lipoid Proteinosis |
|
Dystonia |
ORPHA:530 |
Cerebrotendinous Xanthomatosis |
|
Resting tremor, Somatic sensory dysfunction, Dystonia, Ataxia, Abnormal auditory evoked potential... |
ORPHA:909 |
Filippi Syndrome |
|
Spasticity, Hypotonia, Limb dystonia |
ORPHA:3255 |
Monosomy 18P |
|
Generalized dystonia, Hypotonia |
ORPHA:1598 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Axial hypotonia, Spastic tetraparesis, Hypotonia, Dystonia, Neonatal hypotonia |
OMIM:614924 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Tremor, Spasticity, Ataxia, Dystonia |
OMIM:612199 |
Galloway-Mowat Syndrome 1 |
|
Axial hypotonia, Ataxia, Hypotonia, Spastic tetraplegia, Dystonia, Spasticity |
OMIM:251300 |
Mercury Poisoning |
|
Tremor, Dystonia |
ORPHA:330021 |
Unilateral Polymicrogyria |
|
Axial hypotonia, Spastic tetraplegia, Appendicular hypotonia, Abnormal posturing, Giant somatosen... |
ORPHA:268943 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Hypotonia, Limb dystonia |
OMIM:604377 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Facial hypotonia, Inability to walk, Chorea, Athetosis, EEG abnormality, Dystonia, Lingual dyston... |
ORPHA:404454 |
Cadds |
|
Dystonia |
ORPHA:369942 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Generalized dystonia |
ORPHA:79107 |
Niemann-Pick Disease Type C |
|
Axial dystonia, Lower limb spasticity, Dystonia, Ataxia, Tremor, Chorea, Hypotonia, Progressive g... |
ORPHA:646 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Decerebrate rigidity, Dystonia, Spasticity, Infantile muscular hypo... |
ORPHA:79255 |
Adult-Onset Dystonia-Parkinsonism |
|
Tremor, Rigidity, Focal dystonia, Dystonia, Spasticity |
ORPHA:199351 |
Pyruvate Carboxylase Deficiency |
|
Ataxia, Tremor, Hypotonia, Tip-toe gait, Generalized hypotonia, Dystonia |
ORPHA:3008 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Inability to walk, Ataxia, Hypotonia, Dystonia |
OMIM:620083 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Hypotonia, Spastic tetraplegia, Hypsarrhythmia, Hypertonia, Dystonia |
OMIM:620024 |
Kufor-Rakeb Syndrome |
|
Oculogyric crisis, Rigidity, Blepharospasm, Hypertonia, Gait disturbance, Difficulty walking, Lin... |
ORPHA:306674 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Neonatal hypotonia, Dystonia |
ORPHA:457193 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Broad-based gait, Isometric tremor, Ataxia, Torticollis, Head titubation, Spastic tetraplegia, Hy... |
OMIM:619475 |
Nmda Receptor Encephalitis |
|
Oculogyric crisis, Rigidity, Chorea, EEG with temporal sharp slow waves, Opisthotonus, Choreoathe... |
ORPHA:217253 |
Choreoacanthocytosis |
|
Impaired vibratory sensation, Resting tremor, Head titubation, Chorea, Oromandibular dystonia, Bl... |
ORPHA:2388 |
Arthrogryposis Multiplex Congenita 5 |
|
Akinesia, Hand tremor, Hypertonia, Generalized hypotonia, Dystonia |
OMIM:618947 |
Fucosidosis |
|
Spastic tetraplegia, Hypotonia, Spastic gait, Dystonia |
OMIM:230000 |
Wilson Disease |
|
Dystonia, Tremor, Hypoesthesia, Rigidity, Decreased nerve conduction velocity, Hand tremor, Limb ... |
OMIM:277900 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Unsteady gait, Choreoathetosis, Hypertonia, Dystonia, Infantile muscular hypotonia |
ORPHA:17 |
Chromosome 18P Deletion Syndrome |
|
Hypotonia, Dystonia |
OMIM:146390 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Tremor, Axial hypotonia, Oculogyric crisis, Hypertonia |
ORPHA:1578 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Dystonia, Infantile muscular hypotonia |
ORPHA:79330 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Dystonia, Spastic tetraplegia, Hypotonia, Spastic... |
OMIM:619950 |
Aicardi-Goutières Syndrome |
|
Extrapyramidal muscular rigidity, Axial hypotonia, Dystonia, Tremor, Spastic tetraplegia, Hyperto... |
ORPHA:51 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Dystonia |
ORPHA:79233 |
Vici Syndrome |
|
Abnormal posturing, Hypotonia |
OMIM:242840 |
Aicardi-Goutieres Syndrome 7 |
|
Lower limb spasticity, Axial hypotonia, Spastic tetraparesis, Hypotonia, Hypertonia, Generalized ... |
OMIM:615846 |
Woodhouse-Sakati Syndrome |
|
Choreoathetosis, Dystonia |
OMIM:241080 |
Holoprosencephaly |
|
Chorea, Hypotonia, Spasticity, Dystonia |
ORPHA:2162 |
Neuroleptic Malignant Syndrome |
|
Tremor, Chorea, Extrapyramidal muscular rigidity, Oculogyric crisis |
ORPHA:94093 |
Idiopathic Camptocormia |
|
Dystonia |
ORPHA:1320 |
Orofaciodigital Syndrome Type 1 |
|
Tremor, Ataxia, Dystonia |
ORPHA:2750 |
3-Methylglutaconic Aciduria, Type Viii |
|
Tremor, Hypotonia, Hypertonia, Generalized hypotonia, Dystonia |
OMIM:617248 |
Arboleda-Tham Syndrome |
|
Axial hypotonia, Hypotonia, Lower limb hypertonia, Gait imbalance, Generalized hypotonia, Dystoni... |
OMIM:616268 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Dystonia, Ataxia, Tremor, Hypotonia, Dysmetria, Truncal ataxia, Spasticity |
OMIM:220111 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Facial hypotonia, Tremor, Hypotonia, Dystonia |
ORPHA:506358 |
Woodhouse-Sakati Syndrome |
|
Choreoathetosis, Dystonia |
ORPHA:3464 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Broad-based gait, Exaggerated startle response, Inability to walk, Dystonia, Infantile muscular h... |
ORPHA:438213 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Axial hypotonia, Dystonia |
OMIM:618278 |
Semilobar Holoprosencephaly |
|
Limb dystonia, Inability to walk, Infantile muscular hypotonia, Infantile axial hypotonia, Spasti... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Limb dystonia, Inability to walk, Infantile muscular hypotonia, Infantile axial hypotonia, Spasti... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Limb dystonia, Inability to walk, Infantile muscular hypotonia, Infantile axial hypotonia, Spasti... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Limb dystonia, Inability to walk, Infantile muscular hypotonia, Infantile axial hypotonia, Spasti... |
ORPHA:93924 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Pain insensitivity, Hypotonia, Broad-based gait, Dystonia |
OMIM:620330 |
Legius Syndrome |
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Hypotonia, Dystonia |
ORPHA:137605 |
Autosomal Recessive Cutis Laxa Type 1 |
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Dystonia |
ORPHA:90349 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Spasticity, Dystonia, Limb dystonia |
OMIM:175780 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
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Optic atrophy |
ORPHA:352682 |
Lissencephaly 5 |
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Spastic paraplegia, Hypotonia |
OMIM:615191 |