Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Psychogenic Movement Disorders |
|
Gait disturbance |
ORPHA:71519 |
Benign Hereditary Chorea |
|
Gait disturbance |
ORPHA:1429 |
Parkinsonism With Spasticity, X-Linked |
|
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism |
OMIM:300911 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... |
OMIM:607688 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication |
OMIM:610297 |
Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Rigidity, Parkinsonism with favorable response to dopaminergic medication |
OMIM:613643 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... |
OMIM:260300 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Autosomal Dominant Striatal Neurodegeneration |
|
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Rigidity |
ORPHA:228169 |
Dystonia 16 |
|
Bradykinesia, Torticollis, Unsteady gait, Parkinsonism, Abnormal pyramidal sign, Postural tremor |
ORPHA:210571 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Bradykinesia, Babinski sign, Increased mitochondrial number, Decreased activity of mitochondrial ... |
OMIM:619063 |
Tremor, Hereditary Essential, 5 |
|
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor |
OMIM:616736 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Bradykinesia, Falls, Resting tremor, Shuffling gait, Rigidity, Parkinsonism, Short stepped shuffl... |
ORPHA:306692 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Retinal dystrophy, Drusen, Reticular pigmentary degeneration |
OMIM:267800 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech |
OMIM:609161 |
Hyperthyroxinemia, Familial Dysalbuminemic |
|
Euthyroid hyperthyroxinemia, Abnormal thyroid-stimulating hormone level, Increased circulating fr... |
OMIM:615999 |
Delayed Encephalopathy Due To Carbon Monoxide Poisoning |
|
Bradykinesia, Rigidity |
ORPHA:306686 |
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development |
|
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... |
OMIM:620482 |
Spinocerebellar Ataxia Type 12 |
|
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Gait disturbance, Intentio... |
ORPHA:98762 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Bradykinesia, Spastic gait, Babinski sign, Tip-toe gait, Lower limb spasticity, Frequent falls, G... |
ORPHA:100984 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Bradykinesia, Fasciculations, Spasticity, Rigidity, Ataxia |
OMIM:183050 |
Parkinson Disease 19A, Juvenile-Onset |
|
Bradykinesia, Pill-rolling tremor, Limb hypertonia, Spasticity, Shuffling gait, Rigidity, Loss of... |
OMIM:615528 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Bradykinesia, Babinski sign, Apraxia, Falls, Spasticity, Gait disturbance, Action tremor, Rigidit... |
OMIM:300423 |
Parkinson Disease 22, Autosomal Dominant |
|
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ga... |
OMIM:616710 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Bradykinesia, Resting tremor, Parkinsonism, Rigidity |
OMIM:605909 |
Parkinson Disease 17 |
|
Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism |
OMIM:614203 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Chorea, Ataxia, Lethargy |
OMIM:618683 |
Dystonia, Dopa-Responsive |
|
Bradykinesia, Babinski sign, Torticollis, Resting tremor, Incoordination, Spasticity, Parkinsonis... |
OMIM:128230 |
Spinocerebellar Ataxia Type 20 |
|
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... |
ORPHA:101110 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Bradykinesia, Spastic gait, Abnormal pyramidal sign, Spastic tetraparesis |
OMIM:619052 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Bradykinesia, Babinski sign, Limb ataxia, Lower limb spasticity, Gait disturbance, Spastic parapl... |
OMIM:618418 |
Dystonia 12 |
|
Bradykinesia, Torticollis, Tremor, Unsteady gait, Parkinsonism |
OMIM:128235 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Bradykinesia, Lower limb spasticity |
OMIM:618878 |
Macular Degeneration, Age-Related, 13 |
|
Macular degeneration, Macular scar, Drusen, Choroidal neovascularization |
OMIM:615439 |
Intellectual Developmental Disorder, X-Linked 110 |
|
Bradykinesia |
OMIM:301095 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... |
ORPHA:314632 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Bradykinesia, Akinesia, Resting tremor, Freezing of gait, Rigidity, Parkinsonism, Thinning of the... |
OMIM:619911 |
Parkinsonism With Polyneuropathy |
|
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... |
OMIM:619279 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Babinski sign, Difficulty walking, Decreased activity of mitochondrial complex I, Decreased activ... |
OMIM:500013 |
Retinitis Pigmentosa 36 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... |
OMIM:610599 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Bradykinesia, Limb ataxia, Torticollis, Atrophy/Degeneration affecting the brainstem, Gait ataxia... |
OMIM:619862 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait disturbance, Rigidity, Parkinso... |
OMIM:213600 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Bradykinesia, Babinski sign, Scissor gait, Spasticity, Tremor, Loss of ambulation, Parkinsonism, ... |
ORPHA:521406 |
Corticobasal Syndrome |
|
Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid... |
ORPHA:454887 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Bradykinesia, Babinski sign, Hypertonia, Limb ataxia, Rigidity, Parkinsonism |
OMIM:618824 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Bradykinesia, Tremor, Rigidity, Parkinsonism, Iron accumulation in substantia nigra, Spastic para... |
ORPHA:329284 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold |
OMIM:617572 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... |
ORPHA:240103 |
Parkinson Disease 8, Autosomal Dominant |
|
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... |
OMIM:607060 |
Progressive Non-Fluent Aphasia |
|
Frontotemporal cerebral atrophy, Senile plaques, Astrocytosis, Abnormal lower motor neuron morpho... |
ORPHA:100070 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Bradykinesia, Hypertonia, Limb hypertonia, Broad-based gait, Parkinsonism |
OMIM:617384 |
Cerebellar Ataxia, Cayman Type |
|
Bradykinesia, Broad-based gait, Truncal ataxia, Intention tremor, Gait ataxia, Ataxia |
OMIM:601238 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Bradykinesia, Babinski sign, Falls, Resting tremor, Gait ataxia, Spastic paraplegia, Ataxia, Park... |
OMIM:617225 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Bradykinesia, Falls, Shuffling gait, Parkinsonism, Short stepped shuffling gait |
ORPHA:412066 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bl... |
OMIM:606324 |
Huntington Disease |
|
Bradykinesia, Chorea, Rigidity, Gait ataxia |
OMIM:143100 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Bradykinesia, Chorea, Ataxia, Parkinsonism, Abnormal pyramidal sign, Dysmetria, Slurred speech |
OMIM:618317 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Pill-rolling tremor, Babinski sign, Resting tremor, Tremor, Shuffling gait, Cogwhee... |
OMIM:600116 |
Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Rapid-Onset Dystonia-Parkinsonism |
|
Bradykinesia, Torticollis, Resting tremor, Gait ataxia, Parkinsonism |
ORPHA:71517 |
Atypical Juvenile Parkinsonism |
|
Bradykinesia, Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Involunta... |
ORPHA:391411 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Ankle c... |
ORPHA:363654 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Bradykinesia, Apraxia, Spasticity, Shuffling gait, Gait disturbance, Rigidity, Parkinsonism |
OMIM:221820 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Bradykinesia, Babinski sign, Spasticity, Shuffling gait, Frequent falls, Gait disturbance, Rigidi... |
ORPHA:289560 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Bradykinesia, Falls, Tremor, Parkinsonism with favorable response to dopaminergic medication, Rig... |
ORPHA:240085 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Parkinsonism |
ORPHA:306669 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Bradykinesia, Tip-toe gait, Gait disturbance, Rigidity, Spastic tetraplegia, Spastic paraparesis |
OMIM:615643 |
Spinocerebellar Ataxia 17 |
|
Bradykinesia, Limb ataxia, Apraxia, Broad-based gait, Chorea, Gait ataxia, Intention tremor, Rigi... |
OMIM:607136 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... |
OMIM:312700 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Babinski sign, Abnormality of extrapyramidal motor function, Gait ataxia, Rigidity,... |
ORPHA:101150 |
Infantile Dystonia-Parkinsonism |
|
Bradykinesia, Hypertonia, Limb hypertonia, Chorea, Cerebral palsy, Parkinsonism, Abnormal pyramid... |
ORPHA:238455 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Bradykinesia, Rigidity, Tremor, Ataxia |
OMIM:617836 |
Caribbean Parkinsonism |
|
Bradykinesia, Apraxia, Action tremor, Rigidity, Parkinsonism, Myoclonus, Weakness due to upper mo... |
ORPHA:97355 |
Juvenile Huntington Disease |
|
Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Chorea, Gait ataxia, Rigidity, Ata... |
ORPHA:248111 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... |
OMIM:615157 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Resting tremor, Parkinsonism, Rigidity |
OMIM:614251 |
Dystonia 16 |
|
Bradykinesia, Retrocollis, Gait disturbance, Involuntary movements, Abnormal pyramidal sign, Park... |
OMIM:612067 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Bradykinesia, Oculomotor apraxia, Falls, Tremor by anatomical site, Extrapyramidal muscular rigid... |
ORPHA:99750 |
Parkinson Disease 21 |
|
Bradykinesia, Rigidity, Tremor, Parkinsonism |
OMIM:616361 |
Huntington Disease-Like 2 |
|
Bradykinesia, Chorea, Rigidity, Action tremor |
OMIM:606438 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Leber Optic Atrophy And Dystonia |
|
Bradykinesia, Spasticity, Athetosis, Upper motor neuron dysfunction |
OMIM:500001 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio... |
ORPHA:59181 |
Manganese Poisoning |
|
Bradykinesia, Hypertonia, Akinesia, Abnormality of mitochondrial metabolism, Abnormality of extra... |
ORPHA:306682 |
Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape, Unsteady gait, Gait disturbance, Myoclonus |
ORPHA:412217 |
Kufor-Rakeb Syndrome |
|
Bradykinesia, Babinski sign, Hypertonia, Akinesia, Torticollis, Spasticity, Parkinsonism with fav... |
OMIM:606693 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... |
OMIM:180210 |
Waisman Syndrome |
|
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Sh... |
OMIM:311510 |
X-Linked Dystonia-Parkinsonism |
|
Bradykinesia, Difficulty walking, Resting tremor, Chorea, Progressive extrapyramidal muscular rig... |
ORPHA:53351 |
Familial Infantile Bilateral Striatal Necrosis |
|
Astrocytosis, Gait disturbance, Gait ataxia, Basal ganglia gliosis, Ataxia, Loss of ambulation, A... |
ORPHA:225154 |
Spinocerebellar Ataxia Type 1 |
|
Bradykinesia, Progressive cerebellar ataxia, Gait imbalance, Fasciculations, Atrophy/Degeneration... |
ORPHA:98755 |
Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Ataxia, Parkinsonism, Choreoathetosis |
OMIM:261640 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial complex I, Abnormal mitochondrial morphology, Decreased activ... |
OMIM:618378 |
Lopes-Maciel-Rodan Syndrome |
|
Bradykinesia, Hypertonia, Spasticity, Tremor, Unsteady gait, Ankle clonus, Abnormal pyramidal sign |
OMIM:617435 |
Sporadic Creutzfeldt-Jakob Disease |
|
Cerebral atrophy, Neuronal loss in central nervous system, Astrocytosis, Gliosis, Ataxia |
ORPHA:204 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Bradykinesia, Hypertonia, Hyperkinetic movements, Chorea, Tremor, Cogwheel rigidity, Rigidity, Pa... |
OMIM:613135 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Mitochondrial hypertrophy, Waddling gait |
OMIM:602541 |
Familial Drusen |
|
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... |
ORPHA:75376 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Bradykinesia, Hypertonia, Hyperkinetic movements, Falls, Abnormality of extrapyramidal motor func... |
ORPHA:13 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Global brain atrophy, Progressive cerebellar ataxia, Abnormal upper motor neuron morphology, Glio... |
ORPHA:275872 |
Spinocerebellar Ataxia 2 |
|
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc... |
OMIM:183090 |
Macular Degeneration, Age-Related, 1 |
|
Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ... |
OMIM:603075 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Cerebral cortical atrophy, Neuronal loss in central nervous system, Astrocytosis, Gait disturbance |
OMIM:600795 |
Spinocerebellar Ataxia 10 |
|
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Progressive cerebellar ataxia, Abn... |
OMIM:603516 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Mitochondrial swelling, Tremor |
ORPHA:397744 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Ataxia, Parkinsonism, ... |
OMIM:619725 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Bradykinesia, Hemiballismus, Hypertonia, Inability to walk, Truncal ataxia, Spasticity, Tremor, G... |
OMIM:618877 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Loss of ambulation |
OMIM:619518 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Bradykinesia, Pontocerebellar atrophy, Inability to walk, Lower limb spasticity, Oromotor apraxia... |
OMIM:617854 |
Huntington Disease-Like 1 |
|
Bradykinesia, Chorea, Incoordination, Poor fine motor coordination, Frequent falls, Gait ataxia, ... |
ORPHA:157941 |
Inherited Creutzfeldt-Jakob Disease |
|
Bradykinesia, Senile plaques, Global brain atrophy, Progressive cerebellar ataxia, Neuronal loss ... |
ORPHA:282166 |
Hypermanganesemia With Dystonia 1 |
|
Bradykinesia, Steppage gait, Abnormality of extrapyramidal motor function, Poor fine motor coordi... |
OMIM:613280 |
Multiple System Atrophy |
|
Bradykinesia, Progressive cerebellar ataxia, Resting tremor, Frequent falls, Gait ataxia, Rigidit... |
ORPHA:102 |
Huntington Disease |
|
Bradykinesia, Babinski sign, Difficulty walking, Gait imbalance, Inability to walk, Chorea, Poor ... |
ORPHA:399 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Hypertonia, Abnormal mitochondrial shape, Spasticity, Gait ataxia, Ataxia |
ORPHA:543470 |
Parkinsonian-Pyramidal Syndrome |
|
Bradykinesia, Babinski sign, Spasticity, Shuffling gait, Intention tremor, Rigidity, Parkinsonism... |
ORPHA:171695 |
Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... |
ORPHA:179 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Bradykinesia, Limb hypertonia, Tremor, Cerebral palsy, Rigidity |
ORPHA:70594 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Bradykinesia, Babinski sign, Chorea, Spasticity, Tremor, Blepharospasm, Rigidity, Ataxia, Parkins... |
OMIM:606159 |
Spinocerebellar Ataxia Type 8 |
|
Bradykinesia, Limb ataxia, Spastic dysarthria, Spasticity, Gait ataxia, Hypoplasia of the pons, R... |
ORPHA:98760 |
Parkinson Disease, Late-Onset |
|
Bradykinesia, Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Parkinsonism, Subst... |
OMIM:168600 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Akinesia, Tremor, Rigidity, Parkinsonism, Spastic paraparesis |
OMIM:300894 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Bradykinesia, Akinesia, Gait imbalance, Falls, Progressive extrapyramidal muscular rigidity, Park... |
ORPHA:240071 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Bradykinesia, Incoordination, Poor fine motor coordination, Tremor, Ataxia |
ORPHA:36387 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Bradykinesia, Spastic gait, Babinski sign, Apraxia, Resting tremor, Tremor, Shuffling gait, Spast... |
OMIM:300055 |
Multiple System Atrophy, Cerebellar Type |
|
Bradykinesia, Limb ataxia, Progressive cerebellar ataxia, Broad-based gait, Resting tremor, Frequ... |
ORPHA:227510 |
Postencephalitic Parkinsonism |
|
Bradykinesia, Babinski sign, Akinesia, Resting tremor, Tremor by anatomical site, Cogwheel rigidi... |
ORPHA:97349 |
Primary Progressive Freezing Gait |
|
Bradykinesia, Babinski sign, Difficulty walking, Gait imbalance, Shuffling gait, Frequent falls, ... |
ORPHA:75567 |
Fragile X Tremor/Ataxia Syndrome |
|
Bradykinesia, Resting tremor, Poor fine motor coordination, Dysdiadochokinesis, Gait ataxia, Acti... |
OMIM:300623 |
Multiple System Atrophy, Parkinsonian Type |
|
Bradykinesia, Progressive cerebellar ataxia, Resting tremor, Frequent falls, Gait ataxia, Rigidit... |
ORPHA:98933 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebral atrophy, Cerebellar atrophy, Ataxia, Neurodegeneration, Pigmentary retinopathy |
OMIM:610951 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Shuffling gait, Co... |
ORPHA:254886 |
Gerstmann-Straussler Disease |
|
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa... |
OMIM:137440 |
Hypermanganesemia With Dystonia 2 |
|
Bradykinesia, Babinski sign, Tip-toe gait, Scissor gait, Inability to walk, Spasticity, Tremor, G... |
OMIM:617013 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Bradykinesia, Incoordination, Truncal ataxia, Episodic ataxia, Gait ataxia, Hemiparesis, Ataxia, ... |
OMIM:601338 |
Machado-Joseph Disease |
|
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Facial-lingual fascicula... |
OMIM:109150 |
Spastic Paraplegia Type 7 |
|
Spastic gait, Babinski sign, Abnormal mitochondrial morphology, Lower limb hypertonia, Slowed slu... |
ORPHA:99013 |
Hsd10 Mitochondrial Disease |
|
Spastic tetraplegia, Spasticity, Choreoathetosis, Abnormal mitochondrial morphology |
OMIM:300438 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt... |
OMIM:613194 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Retinitis Pigmentosa 70 |
|
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... |
OMIM:615922 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Bradykinesia, Babinski sign, Torticollis, Abnormality of extrapyramidal motor function, Gait atax... |
ORPHA:98808 |
Retinitis Pigmentosa 32 |
|
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... |
OMIM:609913 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape, Spasticity |
ORPHA:485421 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number |
ORPHA:457050 |
Dravet Syndrome |
|
Bradykinesia, Incoordination, Poor fine motor coordination, Cogwheel rigidity, Action tremor, Rig... |
ORPHA:33069 |
Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
Adult-Onset Nemaline Myopathy |
|
Bradykinesia, Difficulty walking |
ORPHA:171442 |
Parkinson Disease 20, Early-Onset |
|
Bradykinesia, Tremor, Shuffling gait, Gait disturbance, Involuntary movements, Rigidity, Parkinso... |
OMIM:615530 |
Behavioral Variant Of Frontotemporal Dementia |
|
Frontotemporal cerebral atrophy, Astrocytosis, Gait disturbance |
ORPHA:275864 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Bradykinesia, Babinski sign, Progressive extrapyramidal muscular rigidity, Chorea, Resting tremor... |
ORPHA:225147 |
Diaminopentanuria |
|
Neurodegeneration, Ataxia |
OMIM:222350 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Decreased mitochondrial number, Difficulty walking, Gait disturbance |
ORPHA:352470 |
Perry Syndrome |
|
Bradykinesia, Akinesia, Tremor, Rigidity, Parkinsonism, Short stepped shuffling gait |
OMIM:168605 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Astrocytosis, Difficulty walking, Inability to walk, Diabetes insipidus |
OMIM:611087 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... |
OMIM:600059 |
Parkinson Disease 1, Autosomal Dominant |
|
Bradykinesia, Resting tremor, Shuffling gait, Gait disturbance, Rigidity, Loss of ambulation, Par... |
OMIM:168601 |
Neuroferritinopathy |
|
Bradykinesia, Babinski sign, Difficulty walking, Resting tremor, Chorea, Blepharospasm, Involunta... |
ORPHA:157846 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hypertonia, Hyperkinetic movements, Abnormal mitochondrial shape, Decreased activity of mitochond... |
ORPHA:17 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration, Choreoathetosis |
OMIM:257970 |
Spinocerebellar Ataxia Type 13 |
|
Bradykinesia, Limb ataxia, Difficulty walking, Torticollis, Titubation, Gait ataxia, Myoclonus, C... |
ORPHA:98768 |
Childhood-Onset Nemaline Myopathy |
|
Bradykinesia, Clumsiness, Difficulty walking, Waddling gait |
ORPHA:171439 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Mitochondrial swelling, Decreased activity of mitochondrial complex I |
OMIM:618250 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Mitochondrial swelling |
OMIM:615595 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Bradykinesia, Slowed slurred speech |
OMIM:619827 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Parkinson Disease 14, Autosomal Recessive |
|
Bradykinesia, Eyelid myoclonus, Pill-rolling tremor, Ankle clonus, Resting tremor, Spasticity, Tr... |
OMIM:612953 |
Supranuclear Palsy, Progressive, 1 |
|
Cerebral atrophy, Bradykinesia, Senile plaques, Akinesia, Gait imbalance, Falls, Neuronal loss in... |
OMIM:601104 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Intention tremor, Loss of ambul... |
ORPHA:466722 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Bradykinesia, Babinski sign, Limb ataxia, Steppage gait, Truncal ataxia, Gait ataxia, Intention t... |
OMIM:258450 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex I, Tremor, Dysmetria |
OMIM:615578 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Bradykinesia, Abnormal brainstem morphology, Gait disturbance, Gait ataxia, Intention tremor, Rig... |
ORPHA:93256 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Bradykinesia, Babinski sign, Decreased activity of mitochondrial complex I, Spastic tetraparesis,... |
OMIM:614924 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... |
OMIM:305390 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Ataxia, Oculomotor apraxia |
OMIM:616781 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration |
OMIM:193230 |
Progressive Supranuclear Palsy |
|
Bradykinesia, Falls, Tremor, Blepharospasm, Rigidity, Unsteady gait |
ORPHA:683 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Bradykinesia, Babinski sign, Hypertonia, Chorea, Spasticity, Dysdiadochokinesis, Gait ataxia, Int... |
OMIM:610217 |
Exudative Vitreoretinopathy 1 |
|
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... |
OMIM:133780 |
Fumarase Deficiency |
|
Cerebral atrophy, Mitochondrial swelling, Polycythemia, Decreased fumarate hydratase activity |
OMIM:606812 |
Adult-Onset Dystonia-Parkinsonism |
|
Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic medication, Tremor... |
ORPHA:199351 |
Hereditary Late-Onset Parkinson Disease |
|
Bradykinesia, Akinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medi... |
ORPHA:411602 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Difficulty walking, Atrophy/Degeneration affecting the brainstem, Dysdiadochokinesis, Cerebellar ... |
OMIM:612319 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebral atrophy, Inability to walk, Chorea, Cerebellar atrophy, Cerebral cortical atrophy, Ataxi... |
OMIM:617672 |
Multiple System Atrophy 1, Susceptibility To |
|
Bradykinesia, Babinski sign, Tremor, Rigidity, Ataxia, Parkinsonism |
OMIM:146500 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... |
OMIM:193235 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ga... |
OMIM:157640 |
Young-Onset Parkinson Disease |
|
Bradykinesia, Gait imbalance, Spasticity, Tremor, Rigidity |
ORPHA:2828 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Bradykinesia, Hypertonia, Resting tremor, Abnormality of extrapyramidal motor function, Tremor, F... |
ORPHA:254892 |
Adult Krabbe Disease |
|
Hoffmann sign, Babinski sign, Progressive spastic paraparesis, Broad-based gait, Spasticity, Uppe... |
ORPHA:206448 |
Supranuclear Palsy, Progressive, 2 |
|
Bradykinesia, Akinesia, Gait imbalance, Retrocollis, Falls, Rigidity, Parkinsonism, Eyelid apraxi... |
OMIM:609454 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebral atrophy, Neuronal loss in central nervous system, Gliosis, Cerebellar atrophy, Ataxia, U... |
OMIM:256600 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Bradykinesia, Babinski sign, Akinesia, Abnormality of extrapyramidal motor function, Spasticity, ... |
OMIM:234200 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Neurodegeneration, Cerebellar atrophy, Gait ataxia |
ORPHA:438134 |
Kufor-Rakeb Syndrome |
|
Bradykinesia, Babinski sign, Hypertonia, Difficulty walking, Blepharospasm, Upper motor neuron dy... |
ORPHA:306674 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Chemodectoma, Adrenal pheochromocytoma, Elevated circulating catecholamine level, Paraganglioma, ... |
OMIM:605373 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Carotid paraganglio... |
OMIM:168000 |
Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Oculomotor apraxia, Elongated superior cerebellar peduncle, Thickened su... |
OMIM:609583 |
Rett Syndrome |
|
Bradykinesia, Difficulty walking, Limb apraxia, Inability to walk, Gait disturbance |
ORPHA:778 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Bradykinesia, Difficulty walking, Truncal ataxia, Astrocytosis, Dysdiadochokinesis, Gait disturba... |
ORPHA:309854 |
Joubert Syndrome 31 |
|
Truncal ataxia, Molar tooth sign on MRI, Oculomotor apraxia |
OMIM:617761 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Neurodegeneration, Cerebellar atrophy, Ataxia |
OMIM:615889 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Ataxia, Oculomotor apraxia |
OMIM:617562 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebral atrophy, Cerebral cortical neurodegeneration, Neuronal loss in central nervous system, A... |
OMIM:203700 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebral atrophy, Impaired proprioception, Impaired vibration sensation at ankles, Cerebellar atr... |
OMIM:615491 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Neuronal loss in central nervous system, Gliosis, Decreased activity of mitochondrial complex I, ... |
OMIM:616239 |
Barth Syndrome |
|
Hypochromic microcytic anemia, Gait disturbance, Abnormal mitochondrial morphology, Cyclic neutro... |
OMIM:302060 |
Hsd10 Disease, Infantile Type |
|
Frontotemporal cerebral atrophy, Cerebral atrophy, Abnormality of mitochondrial metabolism, Diffu... |
ORPHA:391428 |
Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level |
ORPHA:441 |
Chediak-Higashi Syndrome |
|
Neutropenia, Hemophagocytosis, Hypopigmentation of hair, Silver-gray hair, Anemia, Hypopigmentati... |
OMIM:214500 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Gait disturbance, Lewy bodies, Ataxia, Loss of ambulation, Abnormal lower mot... |
OMIM:614298 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Astrocytosis, Inability to walk, Pontocerebellar atrophy |
ORPHA:258 |
Adrenoleukodystrophy |
|
Limb ataxia, Impaired vibration sensation at ankles, Hyperpigmentation of the skin, Truncal ataxi... |
OMIM:300100 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Brain atrophy, Gliosis, Cerebellar atrophy, Diffuse cerebral atrophy, Neurodegeneration |
OMIM:214150 |
Cockayne Syndrome Type 3 |
|
Premature graying of hair, Difficulty walking, Brain atrophy, Astrocytosis, Unsteady gait, Spleno... |
ORPHA:90324 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Splenomegaly, Neurodegeneration, Leukopenia, Lymphopenia |
OMIM:620210 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Cerebral atrophy, Pancytopenia, Chorea, Gliosis, Gait ataxia, Ataxia, Neurodegeneration, Lethargy |
OMIM:618321 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Cerebellar atrophy, Hypergonadotropic hypogonadism |
ORPHA:352447 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Global brain atrophy, Axonal degeneration, Decreased activity of mitochondrial complex I, Diffuse... |
ORPHA:478029 |
Joubert Syndrome 6 |
|
Molar tooth sign on MRI, Oculomotor apraxia, Elongated superior cerebellar peduncle, Thickened su... |
OMIM:610688 |
Choreoacanthocytosis |
|
Bradykinesia, Hypertonia, Hyperkinetic movements, Falls, Resting tremor, Chorea, Blepharospasm, P... |
ORPHA:2388 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI, Ataxia, Oculomotor apraxia |
OMIM:614615 |
Krabbe Disease |
|
Autoimmune thrombocytopenia, Diffuse cerebral atrophy, Neurodegeneration |
OMIM:245200 |
Neuroblastoma |
|
Anemia, Thrombocytopenia, Ataxia, Antalgic gait, Elevated circulating catecholamine level |
ORPHA:635 |
Gm2 Gangliosidosis, Ab Variant |
|
Cerebral atrophy, Chorea, Neurodegeneration |
ORPHA:309246 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number |
ORPHA:263297 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Cerebral atrophy, Premature pubarche, Gait disturbance, Premature thelarche, Gait ataxia, Hypothy... |
OMIM:616878 |
Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Abnormal midbrain morphology |
ORPHA:280195 |
Amyotrophic Lateral Sclerosis |
|
Neurodegeneration, Amyotrophic lateral sclerosis, Motor neuron atrophy |
ORPHA:803 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Unsteady gait, Neurodegeneration, Cerebellar atrophy, Ataxia |
OMIM:615919 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Difficulty walking, Neurodegeneration, Gait disturbance, Broad-based gait |
ORPHA:79244 |
Japanese Encephalitis |
|
Pill-rolling tremor, Hypertonia, Paralysis, Respiratory paralysis, Abnormality of extrapyramidal ... |
ORPHA:79139 |
Gm2-Gangliosidosis, Ab Variant |
|
Cerebral atrophy, Chorea, Neurodegeneration |
OMIM:272750 |
Slc35A2-Cdg |
|
Atrophy/Degeneration affecting the brainstem, Spastic tetraparesis, Inability to walk, Abnormal m... |
ORPHA:356961 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Difficulty walking, Neurodegeneration, Ataxia |
OMIM:618476 |
Oxoglutaric Aciduria |
|
Ataxia, Abnormality of Krebs cycle metabolism |
ORPHA:31 |
Mucopolysaccharidosis, Type Ii |
|
Abnormality of retinal pigmentation, Neurodegeneration, Splenomegaly, Hepatosplenomegaly |
OMIM:309900 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, B lymphocytopenia, Glioma, Cafe-au-lait spot, Progressive vitiligo, ... |
OMIM:251260 |
Cerebral Visual Impairment |
|
Neurodegeneration, Central nervous system degeneration |
ORPHA:447788 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal brainstem MRI signal intensity, Abnormal midbrain morphology, Abnormal medulla oblongata... |
ORPHA:68 |
Hurler Syndrome |
|
Neurodegeneration, Splenomegaly, Hepatosplenomegaly |
OMIM:607014 |
Mucopolysaccharidosis, Type Vii |
|
Neurodegeneration, Splenomegaly |
OMIM:253220 |
Von Hippel-Lindau Disease |
|
Pancreatic endocrine tumor, Adrenal pheochromocytoma, Pancreatic islet cell adenoma, Elevated cir... |
ORPHA:892 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Delayed puberty, Tip-toe gait, Broad-based gait, Falls, Hypopigmentation of the skin, Abnormality... |
OMIM:619475 |
Cerebellar-Facial-Dental Syndrome |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Limb hypertonia, Abnormal midbrain morphology |
ORPHA:444072 |
Duplication Of The Pituitary Gland |
|
Lower limb spasticity, Abnormal midbrain morphology |
ORPHA:314621 |
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Gliosis, Neurodegeneration |
OMIM:620455 |
Primrose Syndrome |
|
Delayed puberty, Hypergonadotropic hypogonadism, Hypothyroidism, Ataxia, Diabetes mellitus, Neuro... |
OMIM:259050 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology |
ORPHA:293987 |