Retinitis Pigmentosa 57 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy |
OMIM:613582 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Leber Congenital Amaurosis 13 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:612712 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Autosomal Recessive Spastic Paraplegia Type 74 |
|
Visual field defect, Babinski sign, Peripheral axonal neuropathy, Distal amyotrophy, Optic atroph... |
ORPHA:468661 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Stargardt Disease |
|
Yellow/white lesions of the macula, Nyctalopia, Abnormal foveal morphology, Macular degeneration,... |
ORPHA:827 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials, Macular degeneration, Reduced visual acuity, Optic disc ... |
OMIM:618195 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy |
OMIM:616170 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy |
OMIM:165510 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Spastic Paraplegia Type 7 |
|
Cerebral cortical atrophy, Impaired vibration sensation in the lower limbs, Babinski sign, Abnorm... |
ORPHA:99013 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Torticollis, Ataxia, Cerebellar vermis atrophy, Babinski sign, Dilated fourth ventricle, Sensory ... |
OMIM:619054 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Optic atrophy |
OMIM:165199 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy |
OMIM:136600 |
Optic Atrophy 5 |
|
Optic atrophy |
OMIM:610708 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
EEG abnormality, Decreased nerve conduction velocity, Abnormal mitochondrial shape, Abnormality o... |
ORPHA:485421 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Hypertonia, Ataxia, EEG abnormality, Delayed myelination, Abnormal mitochondrial shape, Optic atr... |
ORPHA:543470 |
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Optic atrophy, Cranial nerve compression, Macular atrophy |
OMIM:250450 |
Macular Dystrophy, Vitelliform, 2 |
|
Cystoid macular degeneration, Reduced visual acuity, Abnormal electroretinogram, Subretinal fluid... |
OMIM:153700 |
Tritanopia |
|
Color vision defect, Abnormal light-adapted electroretinogram, Tritanomaly, Dyschromatopsia |
OMIM:190900 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Edema |
OMIM:613267 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Axonal degeneration, Babinski sign, Tremor, Difficulty walking, Distal lower limb am... |
OMIM:302800 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Friedreich Ataxia |
|
Visual field defect, Ataxia, Decreased sensory nerve conduction velocity, Limb ataxia, Decreased ... |
OMIM:229300 |
Optic Atrophy 1 |
|
Centrocecal scotoma, Tritanomaly, Abnormal amplitude of pattern reversal visual evoked potentials... |
OMIM:165500 |
Optic Atrophy 8 |
|
Abnormality of pattern visual evoked potentials, Prolonged somatosensory evoked potentials, Visua... |
OMIM:616648 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Sensory ataxia, Spastic paraparesis, Impaired vibratory sensation, Babinski sign, Fiber type grou... |
OMIM:500013 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity, Bilateral sensorineural hearing impairment, EMG: myopathic a... |
ORPHA:397744 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Sensorineural hearing impairment, Rod-cone dystrophy, Segmental peripheral demyelination/remyelin... |
OMIM:311070 |
Macular Dystrophy, Vitelliform, 4 |
|
Vitelliform-like macular lesions, Moderately reduced visual acuity, Decreased Arden ratio of elec... |
OMIM:616151 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... |
OMIM:607921 |
Hsd10 Mitochondrial Disease |
|
Sensorineural hearing impairment, Cerebral cortical atrophy, Retinal degeneration, Abnormal mitoc... |
OMIM:300438 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Inability to walk, Axonal degeneration, Proximal muscle weakness in lower limbs, Toe extensor amy... |
ORPHA:98856 |
Retinitis Pigmentosa 71 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Attenuation of retinal blood vessel... |
OMIM:616394 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Motor axonal neuropathy, A... |
ORPHA:1215 |
Canavan Disease |
|
Blindness, Abnormality of retinal pigmentation, Cognitive impairment, Abnormality of visual evoke... |
ORPHA:141 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor |
OMIM:619491 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
Late-Infantile/Juvenile Krabbe Disease |
|
Hemiplegia, Ataxia, Tremor, Difficulty walking, Lower limb spasticity, Visual impairment, Slurred... |
ORPHA:206443 |
Usher Syndrome, Type I |
|
Rod-cone dystrophy, Abnormal electroretinogram, Visual loss, Undetectable electroretinogram |
OMIM:276900 |
Krabbe Disease |
|
Hypertonia, Hydrocephalus, Abnormal flash visual evoked potentials, EEG abnormality, Decreased ne... |
OMIM:245200 |
Retinitis Pigmentosa 33 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy |
OMIM:613862 |
Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
Lipedema |
|
Edema |
OMIM:614103 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... |
OMIM:601596 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Demyelinating motor neuropathy, Tremor, Difficulty walking, Abnormality of somatosensory evoked p... |
ORPHA:206594 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Ataxia, Inability to walk, Clumsiness, Cerebral atrophy, Abnormality of pattern visual evoked pot... |
ORPHA:1947 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity, Impaired vibratory sensation |
ORPHA:217012 |
Spasticity, Childhood-Onset, With Hyperglycinemia |
|
Spastic diplegia, Leukodystrophy, Babinski sign, Abnormal pyramidal sign, Decreased activity of t... |
OMIM:616859 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy |
ORPHA:2253 |
Spastic Ataxia 7, Autosomal Dominant |
|
Optic atrophy |
OMIM:108650 |
Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor |
OMIM:616736 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Camptodactyly of finger, EEG with generalized epileptiform discharges, Optic atrophy, EEG with oc... |
OMIM:619323 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... |
OMIM:601455 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
Spinocerebellar Ataxia Type 43 |
|
Decreased number of large peripheral myelinated nerve fibers, Cerebellar vermis atrophy, Progress... |
ORPHA:497764 |
Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
Retinitis Pigmentosa 39 |
|
Visual field defect, Rod-cone dystrophy, Abnormal electroretinogram, Attenuation of retinal blood... |
OMIM:613809 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Paraparesis, Progressive cerebellar ataxia, Bilateral sensorineural hearing impairment, Abnormali... |
ORPHA:275872 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Unsteady gait, Skeletal musc... |
ORPHA:101097 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Centrocecal scotoma, Ataxia, Tritanomaly, Abnormal amplitude of pattern reversal visual evoked po... |
OMIM:125250 |
Mohr-Tranebjaerg Syndrome |
|
Inability to walk, Babinski sign, Optic atrophy, Tremor, Abnormality of somatosensory evoked pote... |
ORPHA:52368 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Slow decrease in visual acuity, Color vision defect, Decreased motor nerve conduction velocity, A... |
OMIM:601152 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
Spinocerebellar Ataxia Type 1 |
|
Gait imbalance, Impaired proprioception, Loss of Purkinje cells in the cerebellar vermis, Abnorma... |
ORPHA:98755 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Sensorineural hearing impairment, Ataxia, Decreased nerve conduction velocity, Aminoaciduria, Abn... |
ORPHA:1933 |
Adult Krabbe Disease |
|
Hemiplegia, Ataxia, Babinski sign, Progressive spastic paraparesis, Spasticity, Peripheral demyel... |
ORPHA:206448 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Sensorineural hearing impairment, Ataxia, Bradykinesia, Dysmetria, Peripheral axonal neuropathy, ... |
OMIM:601338 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait ataxia |
OMIM:617018 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Abnormality of visual evoked potentials, Abnormal electroretinogram, Visual loss, Subcortical dem... |
OMIM:125310 |
Cln5 Disease |
|
Ataxia, Inability to walk, Poor gross motor coordination, Truncal ataxia, Tremor, Spasticity, Uns... |
ORPHA:228360 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Axonal degeneration, Spastic paraparesis, Dysd... |
OMIM:615157 |
Spastic Ataxia 4, Autosomal Recessive |
|
Optic atrophy |
OMIM:613672 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Flexion contracture, Babinski sign, Tremor, Spasticity |
OMIM:611105 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Peripheral axonal atrophy, Hypertonia, Decreased sensory nerve conduction velocity, Flexion contr... |
OMIM:609260 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy |
OMIM:617087 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive |
|
Broad-based gait, Joint contracture of the hand, Positive Romberg sign, Distal sensory impairment... |
OMIM:258650 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Ataxia, Decreased nerve conduction velocity, Hypoesthesia, Segmental peripheral demyelination/rem... |
OMIM:601098 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Diffuse cerebellar atrophy, Delayed myelination, Abnormal autonomic nervous sys... |
ORPHA:478029 |
Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
Infantile Neuroaxonal Dystrophy |
|
Ataxia, Abnormal autonomic nervous system physiology, Flexion contracture, Cerebellar gliosis, Ab... |
ORPHA:35069 |
X-Linked Retinoschisis |
|
Abnormal electroretinogram, Abnormality of vision, Retinoschisis |
ORPHA:792 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Neuronal loss in central nervous system, Ataxia, Decreased nerve conduction velocity, Cerebral at... |
OMIM:256600 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Inability to walk by childhood/adolescence, Decreased sensory nerve conduction velocity, Axonal d... |
OMIM:214400 |
Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... |
OMIM:618889 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Optic neuropathy, Axonal degeneration, Retinopathy, Optic atrophy, Decreased activity of mitochon... |
OMIM:616811 |
Cerebellar Ataxia And Albinism |
|
Ataxia, Head tremor |
OMIM:258300 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number, Proximal muscle weakness in lower limbs, Weakness of facial muscu... |
ORPHA:457050 |
Occult Macular Dystrophy |
|
Slow decrease in visual acuity, Abnormal multifocal electroretinogram |
OMIM:613587 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Spontaneous pain sensation, Hand muscle weakness, Motor conduction block, Sensory ataxia, Decreas... |
ORPHA:2932 |
Dystonia-Aphonia Syndrome |
|
Cerebral atrophy, Macroglossia, Abnormal mitochondrial shape, Myoclonus, Gait disturbance, Mixed ... |
ORPHA:412217 |
Nescav Syndrome |
|
Cerebellar vermis atrophy, Inability to walk, Cerebral atrophy, Flexion contracture, Babinski sig... |
OMIM:614255 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Inability to walk, Retinal degeneration, Spasticity, EEG with generalized slow activity g... |
ORPHA:168491 |
Retinitis Pigmentosa 31 |
|
Visual field defect, Rod-cone dystrophy, Abnormal electroretinogram, Attenuation of retinal blood... |
OMIM:609923 |
Null Syndrome |
|
Ataxia, Inability to walk, Abnormal cerebellum morphology, Decreased nerve conduction velocity, D... |
ORPHA:280234 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Ataxia, EEG abnormality, Retinal dystrophy, Optic atrophy, Cerebellar atrophy, Visual impairment |
OMIM:614706 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Tip-toe gait, Axonal degeneration, Decreased motor nerve conduction velocity, Peripheral axonal d... |
OMIM:614436 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Ataxia, Flexion contracture of finger, Ring scotoma, Attenuation of retinal blood vessels, Optic ... |
OMIM:609033 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia, Abnormality of extrapy... |
OMIM:614561 |
Seizures, Cortical Blindness, And Microcephaly Syndrome |
|
Optic atrophy |
OMIM:616632 |
Spastic Paraplegia 74, Autosomal Recessive |
|
Optic atrophy, Peripheral axonal neuropathy |
OMIM:616451 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Hypertonia, Abnormal pinna morphology, Brain atrophy, Myoclonus, Dilated fourth ventricle, Cerebe... |
ORPHA:3078 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
Retinal Cone Dystrophy 1 |
|
Photophobia, Retinal degeneration, Color vision defect, Abnormal electroretinogram, Cone/cone-rod... |
OMIM:180020 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Cognitive impairment, Abnormal electroretinogram, Optic atro... |
ORPHA:2246 |
Cone-Rod Dystrophy 17 |
|
Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:615163 |
Dystonia 27 |
|
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor |
OMIM:616411 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Optic atrophy, Decreased activity of mitochondrial complex I, Spastic tetrap... |
OMIM:618237 |
Charcot-Marie-Tooth Disease Type 4G |
|
Gait imbalance, Loss of ambulation, Motor conduction block, Demyelinating peripheral neuropathy, ... |
ORPHA:99953 |
Retinitis Pigmentosa 28 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy |
OMIM:606068 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Broad-based gait, Myelin tomacula, Decreased sensory nerve conduction velocity, Sensory ataxia, S... |
OMIM:145900 |
Night Blindness, Congenital Stationary, Type 1G |
|
Optic disc pallor, Congenital stationary night blindness, Rod-cone dystrophy |
OMIM:616389 |
Cerebrotendinous Xanthomatosis |
|
Paraparesis, Ataxia, Hypermyelinated retinal nerve fibers, Axonal degeneration, Abnormal atrial s... |
ORPHA:909 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor |
OMIM:165300 |
Wagner Vitreoretinopathy |
|
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... |
OMIM:143200 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614181 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Ataxia, Parkinsonism with favorable response to dopaminergic medication, Optic atrophy, Cogwheel ... |
ORPHA:254886 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Ataxia, EEG abnormality, Cerebral atrophy, Retinopathy, Pigmentary retinopathy, Visual loss, Neur... |
OMIM:610951 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Peripheral axonal neuropathy, Foot dorsiflexor weakness, Distal amyotrophy, Optic atrophy, Spinal... |
ORPHA:496756 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Sensorineural hearing impairment, Loss of ambulation, Skeletal muscle autophagosome accumulation,... |
OMIM:619518 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of large peripheral myelinated nerve fibers, Sensory ataxia, Decreased motor ner... |
OMIM:614895 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:118220 |
Ceroid Lipofuscinosis, Neuronal, 9 |
|
Optic atrophy, Rod-cone dystrophy |
OMIM:609055 |
Autosomal Spastic Paraplegia Type 30 |
|
Diffuse cerebellar atrophy, Ataxia, Babinski sign, Distal sensory impairment, Distal amyotrophy, ... |
ORPHA:101010 |
Cach Syndrome |
|
Abnormal pons morphology, Cerebellar vermis atrophy, Optic neuritis, Cerebral atrophy, Flexion co... |
ORPHA:135 |
Leber Hereditary Optic Neuropathy |
|
Centrocecal scotoma, Ataxia, Slow decrease in visual acuity, Retinal telangiectasia, Blurred visi... |
ORPHA:104 |
Spinocerebellar Ataxia Type 25 |
|
Abnormal cerebellar cortex morphology, Decreased number of large peripheral myelinated nerve fibe... |
ORPHA:101111 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Flexion contracture, Impaired distal tactile sensation, Proximal muscle weakness in lower limbs, ... |
OMIM:607706 |
Spinocerebellar Ataxia 1 |
|
Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Chorea, Optic atrophy,... |
OMIM:164400 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... |
OMIM:118210 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... |
OMIM:606482 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Ataxia, Demyelinating peripheral neuropathy, Babinski sign, Frequent falls, Impaired distal vibra... |
OMIM:619742 |
Episodic Ataxia, Type 8 |
|
Intention tremor, Ataxia, Slurred speech, Episodic ataxia |
OMIM:616055 |
Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... |
OMIM:613194 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Ataxia, Abnormal motor evoked potentials, Abnormality of visual... |
ORPHA:320401 |
Angioedema, Hereditary, 6 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619363 |
Retinoschisis Of Fovea |
|
Hypermetropia, Foveoschisis, Nyctalopia, Rod-cone dystrophy, Abnormal electroretinogram, Visual l... |
OMIM:268080 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Ataxia, Dysplastic corpus callosum, Inability to walk, Hypoplasia of the pons, Type 1 muscle fibe... |
OMIM:618276 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Cerebral cortical atrophy, Cerebral atrophy, Abnormal pyramidal sign, Parkinsonism, Neuro... |
OMIM:617672 |
Retinitis Pigmentosa 11 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... |
OMIM:600138 |
Choroideremia |
|
Abnormality of retinal pigmentation, Nyctalopia, Abnormal electroretinogram, Visual impairment, P... |
ORPHA:180 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:607734 |
Multiple Mitochondrial Dysfunctions Syndrome 4 |
|
Optic atrophy |
OMIM:616370 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Diffuse cerebellar atrophy, EEG with periodic lateralized epileptiform discharges, Tetraparesis, ... |
ORPHA:477774 |
Retinitis Pigmentosa 19 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, A... |
OMIM:601718 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Foot dorsifl... |
OMIM:118200 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Reduced visual acuity, Onion bulb formation, Babinski sign, Peripheral axonal neuropathy, Distal ... |
OMIM:615035 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Decreased number of large peripheral myelinated nerve fibers, Ataxia, Loss of ambulation, Limb at... |
OMIM:208920 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Action tremor, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ... |
OMIM:180800 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Cerebral atrophy, Truncal ataxia, Visual loss, Optic atrophy, Cerebellar atrophy |
OMIM:611726 |
Nanophthalmos 4 |
|
Optic disc drusen |
OMIM:615972 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Peripheral hypomyelination, Hypoesthesia, Small thenar eminence, Decreased motor nerve conduction... |
OMIM:609311 |
Bothnia Retinal Dystrophy |
|
Ring scotoma, Retinal degeneration, Macular degeneration, Increased OCT-measured foveal thickness... |
ORPHA:85128 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:608380 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Reduced muscle fiber alpha dystroglycan, Hydrocephalus, Hypoglycosylation of alpha-dystroglycan, ... |
ORPHA:370959 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia, Somatic sensory dysfunction |
ORPHA:423296 |
Oculocutaneous Albinism Type 1 |
|
Photophobia, Reduced visual acuity, Abnormality of visual evoked potentials, Hypoplasia of the fo... |
ORPHA:352731 |
Optic Atrophy 12 |
|
Optic atrophy, Optic disc pallor |
OMIM:618977 |
Optic Atrophy 6 |
|
Optic atrophy |
OMIM:258500 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia |
OMIM:615945 |
Behr Syndrome |
|
Hamstring contractures, Ataxia, Dysmetria, Babinski sign, Adductor longus contractures, Optic atr... |
OMIM:210000 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Increased variability in muscle fiber diameter, Unsteady gait, Skeletal muscle atrophy, Hypertoni... |
ORPHA:17 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials, Short stature, Cerebral visual impairment |
ORPHA:1389 |
Progressive Cone Dystrophy |
|
Photophobia, Abnormality of retinal pigmentation, Color vision defect, Abnormal electroretinogram... |
ORPHA:1871 |
Retinitis Pigmentosa 76 |
|
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... |
OMIM:617123 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Optic atrophy |
OMIM:618572 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Inability to walk, Optic atrophy, Diffuse cerebral atrophy, Tremor, Difficulty walking, Cerebella... |
ORPHA:330050 |
Ataxia With Vitamin E Deficiency |
|
Hypertonia, Ataxia, Abnormality of retinal pigmentation, Hemiplegia/hemiparesis, Nyctalopia, Dysm... |
ORPHA:96 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Foot dorsiflexor weakness... |
OMIM:606483 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Ataxia, Cerebellar vermis atrophy, Inability to walk, Retinal pigment epithelial mottling, Corpus... |
OMIM:619389 |
Retinitis Pigmentosa 88 |
|
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... |
OMIM:618826 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
EEG with focal spikes, Hypermetropia, Gait imbalance, Severe demyelination of the white matter, C... |
ORPHA:488635 |
Machado-Joseph Disease |
|
Ataxia, Progressive cerebellar ataxia, Bradykinesia, Abnormal autonomic nervous system physiology... |
OMIM:109150 |
Retinitis Pigmentosa 54 |
|
Nyctalopia, Rod-cone dystrophy, Abnormal electroretinogram, Attenuation of retinal blood vessels,... |
OMIM:613428 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Delayed myelination, Cerebral atrophy, Rod-cone dystrophy, Dysmetria, Abnormal enzyme/coe... |
ORPHA:572798 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Abnormal enzyme/coenzyme activity, Loss of ambulation, EEG abnormality, Abnormal cerebellum morph... |
ORPHA:565624 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Ataxia, Retinal degeneration, Limb ataxia, Babinski sign, Optic atrophy, Gait ataxia, Spasticity,... |
OMIM:614322 |
Sorsby Fundus Dystrophy |
|
Macular dystrophy, Abnormal electroretinogram, Blindness |
OMIM:136900 |
Spastic Paraplegia 32, Autosomal Recessive |
|
Cerebral atrophy, Ankle clonus, Babinski sign, Lower limb muscle weakness, Spastic paraplegia, Di... |
OMIM:611252 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Dilated fourth... |
OMIM:614831 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Optic atrophy |
ORPHA:2773 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
Spastic Paraplegia 57, Autosomal Recessive |
|
Optic atrophy |
OMIM:615658 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Ataxia, Peripheral axonal neuropathy, Foot dorsiflexor weakness, Distal amyotrophy, Optic atrophy... |
OMIM:617207 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic atrophy, Optic disc pallor |
OMIM:182830 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Tremor, Hemiballismus, Chorea |
ORPHA:494526 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Optic atrophy, Chorioretinal coloboma |
ORPHA:2732 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Hand muscle weakness, Hypoesthesia, Segmental peripheral demyelination/remyelination, Decreased m... |
OMIM:162500 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia |
ORPHA:85292 |
Autosomal Spastic Paraplegia Type 72 |
|
Impaired vibration sensation at ankles, Spastic gait, Postural tremor, Rigidity |
ORPHA:401849 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity, Internally nucleated skeletal muscle fibers, Axonal degenera... |
OMIM:618138 |
Optic Atrophy With Demyelinating Disease Of Cns |
|
Ataxia, Optic neuritis, Hemiparesis, Optic atrophy, CNS demyelination, Peripheral demyelination |
OMIM:165200 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Ataxia, EEG abnormality, Demyelinating peripheral neuropathy, Dysmetria, Spastic paraparesis, Myo... |
ORPHA:313772 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hypertonia, Neuronal loss in central nervous system, Ataxia, Hepatic failure, Abnormality of visu... |
OMIM:203700 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... |
OMIM:614500 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Sensorineural hearing impairment, Foot dorsiflexor weakness, Distal amyotrophy, Distal sensory im... |
OMIM:607736 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus |
OMIM:616921 |
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Acroparesthesia, Demyelinating motor neuropathy, Lower limb muscle weakness, Demyelinating sensor... |
ORPHA:208981 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Progressive cerebellar ataxia, Babinski sign, Truncal ataxia, Optic atrophy, Tremor, Difficulty w... |
ORPHA:137898 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Limb ataxia, Peripheral axonal neuropathy, Gait ataxia, Cerebellar atrophy |
OMIM:615957 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Ataxia, Cerebral atrophy, Peripheral hypomyelination, Axonal degeneration, Decreased motor nerve ... |
OMIM:604168 |
Irvan Syndrome |
|
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... |
ORPHA:209943 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Hypermetropia, Brain atrophy, Cerebral atrophy, Limb hypertonia, Abnormal electroretinogram, Corp... |
OMIM:616875 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Elongated superior cerebellar peduncle, Hypermetropia, Ataxia, Dilated fourth ventricle, Amblyopi... |
ORPHA:370022 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Ataxia, Progressive cerebellar ataxia, Hypermyelinated retinal nerve fibers, Babinski sign, Diffi... |
ORPHA:98 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Sensorineural hearing impairment, Segmental peripheral demyelination/remyelination, Onion bulb fo... |
OMIM:604563 |
Lambert Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Branchial anomaly |
ORPHA:1296 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Microphthalmia-Brain Atrophy Syndrome |
|
Abnormal pons morphology, Cerebellar vermis atrophy, Diffuse demyelination of the cerebral white ... |
ORPHA:77299 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Di... |
OMIM:610100 |
Xq12-Q13.3 Duplication Syndrome |
|
Cleft earlobe, Abnormality of visual evoked potentials, Low alkaline phosphatase, Optic disc pall... |
ORPHA:314389 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Facial diplegia, Reduced muscle fiber alpha dystroglycan, Tip-toe gait, EMG: myopathic abnormalit... |
ORPHA:370980 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Broad-based gait, Ataxia, Cerebral cortical atrophy, Impaired vibration sensation at ankles, Cere... |
ORPHA:320391 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Brain atrophy, Chorea, Tremor, Spasticity, Unsteady gait, Progressive visual field defect... |
ORPHA:79263 |
Ã…land Islands Eye Disease |
|
Color vision defect, Reduced visual acuity, Abnormal electroretinogram, Hypoplasia of the fovea, ... |
ORPHA:178333 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
Cone-Rod Dystrophy 22 |
|
Photophobia, Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent ... |
OMIM:619531 |
Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
Spinocerebellar Ataxia 2 |
|
Ataxia, Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Spasticity, Unsteady gait, Pos... |
OMIM:183090 |
Autosomal Spastic Paraplegia Type 58 |
|
Babinski sign, Chorea, Tremor, Spasticity, Unsteady gait, Peripheral demyelination, Erratic myocl... |
ORPHA:397946 |
Spinocerebellar Ataxia 28 |
|
Limb ataxia, Babinski sign, Abnormal activity of mitochondrial respiratory chain, Parkinsonism, R... |
OMIM:610246 |
Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
Parkinsonism With Spasticity, X-Linked |
|
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity |
OMIM:300911 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormality of visual evoked potentials, Amblyopia |
OMIM:617523 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Inability to walk, Flexion contracture, Optic atrophy, Cerebellar atrophy, Cerebral visual impair... |
OMIM:618324 |
Blue Cone Monochromatism |
|
Photophobia, Abnormality of retinal pigmentation, Blue cone monochromacy, Abnormal electroretinog... |
ORPHA:16 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Babinski sign, Dysmetria |
OMIM:612437 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Sensorineural hearing impairment, Ataxia, Difficulty walking, Hearing impairment, Skeletal muscle... |
OMIM:616684 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Distal sensory impairment,... |
OMIM:604484 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista... |
OMIM:608673 |
Infantile Krabbe Disease |
|
Photophobia, Decreased nerve conduction velocity, Cherry red spot of the macula, Opisthotonus, Ab... |
ORPHA:206436 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Sensorineural hearing impairment, Hypertonia, EEG abnormality, Abnormality of visual evoked poten... |
ORPHA:2971 |
Spinocerebellar Ataxia 31 |
|
Sensorineural hearing impairment, Ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy |
OMIM:117210 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Cerebral atrophy, Delayed CNS myelination, Babinski sign, Pigmentary retinopathy, Peripheral axon... |
OMIM:619090 |
Infantile-Onset Spinocerebellar Ataxia |
|
Optic atrophy, Abnormality of the autonomic nervous system |
ORPHA:1186 |
Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Skeletal muscle atrophy, Ventriculomegaly, Cerebellar atrophy |
OMIM:613402 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Paraparesis, Ataxia, Cerebral cortical atrophy, Frontal cortical atrophy, Retinal degeneration, A... |
ORPHA:2822 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Torticollis, Impaired vibratory sensation, Babinski sign, Peripheral axonal neuropathy, Lower lim... |
OMIM:619686 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Constriction of peripheral visual field, Patchy atrophy of the retinal pigmen... |
ORPHA:436245 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
EEG with focal spikes, Ataxia, Inability to walk, Cerebral atrophy, Flexion contracture, Cerebell... |
ORPHA:79243 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Foot ... |
OMIM:605588 |
Machado-Joseph Disease Type 3 |
|
Clumsiness, Progressive cerebellar ataxia, Diplopia, Abnormality of extrapyramidal motor function... |
ORPHA:276244 |
Barth Syndrome |
|
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis |
ORPHA:111 |
Cone-Rod Dystrophy 12 |
|
Abnormal light- and dark-adapted electroretinogram, Nyctalopia, Color vision defect, Reduced visu... |
OMIM:612657 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Hypertonia, Ataxia, Cerebral atrophy, Ventriculomegaly, Cerebellar atrophy, Upper limb spasticity... |
OMIM:613925 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Axonal degeneration, Arthrogryposis-like hand anomaly, Diaphragmatic eventration, Peripheral axon... |
OMIM:620011 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Multiple joint contractures, Limb-girdle muscle weakness, Gait disturbance, Difficulty walking, D... |
ORPHA:352470 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem... |
OMIM:617862 |
Retinitis Pigmentosa 27 |
|
Blindness, Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Macular edema, Peripapillary ch... |
OMIM:613750 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
Dandy-Walker Syndrome |
|
Hydrocephalus, Dilated fourth ventricle, Truncal ataxia, Agenesis of cerebellar vermis, Partial a... |
OMIM:220200 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Distal sensory impairment, Foot dorsiflexor weakness, Distal amyotrophy, Decreased number of peri... |
OMIM:607731 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Foot dorsifle... |
OMIM:608340 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Flexion contracture of finger, Truncal titubation, Nyctalopia, Rod-cone dystrophy, Axonal... |
ORPHA:88628 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Diffuse cerebellar atrophy, Abnormal pinna morphology, EEG abnormality, Cerebral atrophy, Limb hy... |
ORPHA:480898 |
Slc35A2-Cdg |
|
Sensorineural hearing impairment, Inability to walk, Delayed myelination, Cerebral atrophy, EEG w... |
ORPHA:356961 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinsk... |
ORPHA:251282 |
Pontocerebellar Hypoplasia, Type 1E |
|
Myoclonus, Hypoplasia of the pons, Cerebellar hypoplasia, EEG with burst suppression, Optic atrop... |
OMIM:619303 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Distal sensory impairment, Distal amyotrophy, Decreased number of peripheral myelinated nerve fib... |
OMIM:607677 |
Charcot-Marie-Tooth Disease Type 4A |
|
Poor gross motor coordination, Inability to walk, Weakness of facial musculature, Quadriceps musc... |
ORPHA:99948 |
Galloway-Mowat Syndrome 5 |
|
Ataxia, Brain atrophy, Ventriculomegaly, Spasticity, Hearing impairment, Peripheral demyelination |
OMIM:617731 |
Retinitis Pigmentosa 7 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Chorioretinal atrophy, A... |
OMIM:608133 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus |
ORPHA:308 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Spastic gait, Ataxia, Cerebral cortical atrophy, Retinal degeneration, Macular degeneration, Impa... |
OMIM:604360 |
Poretti-Boltshauser Syndrome |
|
Retinal thinning, Dilated fourth ventricle, Amblyopia, Retinal dystrophy, Cerebellar vermis hypop... |
OMIM:615960 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Limb ataxia, Weakness of facial musculature, Increased variability in muscle fiber diameter, Babi... |
OMIM:258450 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... |
OMIM:611228 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity, Hand muscle atrophy, Distal sensory impairment, Gait disturb... |
ORPHA:99944 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Demyelina... |
OMIM:617519 |
Autosomal Recessive Spastic Paraplegia Type 32 |
|
Abnormal pons morphology, Impaired vibration sensation in the lower limbs, Babinski sign, Progres... |
ORPHA:171622 |
Usher Syndrome, Type 1M |
|
Optic disc pallor, Drusen |
OMIM:618632 |
Leber Congenital Amaurosis 14 |
|
Photophobia, Nyctalopia, Congenital blindness, Rod-cone dystrophy, Reduced visual acuity, Retinal... |
OMIM:613341 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Distal sen... |
OMIM:601382 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Hypermetropia, Dysmetria, Spastic paraparesis, Reduced visual acuity, Babinski sign, Corpus callo... |
OMIM:616680 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Cerebral cortical atrophy, Abnormality of visual evoked potentials, Optic atrophy, Gait d... |
ORPHA:702 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia |
OMIM:616291 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Low-set ears, Decreased activity of mitochondrial complex IV, Hypertrophic cardiomyopathy, Abnorm... |
OMIM:618378 |
Cone-Rod Dystrophy 13 |
|
Photophobia, Macular degeneration, Color vision defect, Reduced visual acuity, Undetectable light... |
OMIM:608194 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Ataxia, EEG abnormality, Cerebral atrophy, Myoclonus, Increased neuronal autofluorescent lipopigm... |
OMIM:600143 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Inability to walk, Delayed myelination, Myoclonus, Rigidity, Athetosis, Optic atrophy, Gait distu... |
OMIM:618241 |
Glaucoma 1, Open Angle, F |
|
Increased cup-to-disc ratio |
OMIM:603383 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
Spinocerebellar Ataxia 23 |
|
Dysmetria, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Tremor, G... |
OMIM:610245 |
Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Sensory axonal neuropathy, Tremor, Limb muscle weak... |
OMIM:607458 |
Auditory Neuropathy And Optic Atrophy |
|
Optic atrophy, Rod-cone dystrophy |
OMIM:617717 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation, Distal sensory impairment, Foot dorsiflexor weakness, Steppage gait |
OMIM:616039 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Cystoid macular edema |
OMIM:617433 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Ataxia, Dysmetria, Ankle clonus, Babinski sign, Lower limb amyotrophy, Peripheral axonal neuropat... |
OMIM:610357 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
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Abnormal peripheral myelination, Flexion contracture of finger, Inability to walk, Brain atrophy,... |
ORPHA:466768 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
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Ataxia, Cerebellar vermis atrophy, Dysmetria, Dilated fourth ventricle, Diffuse cerebral atrophy,... |
ORPHA:1170 |
Cone-Rod Dystrophy, X-Linked, 3 |
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Photophobia, Absent foveal reflex, Abnormal light- and dark-adapted electroretinogram, Color visi... |
OMIM:300476 |
Neurodegeneration With Brain Iron Accumulation |
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Optic atrophy, Retinopathy |
ORPHA:385 |
Developmental And Epileptic Encephalopathy 76 |
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Inability to walk, Cerebral atrophy, Upper limb spasticity, Cerebellar atrophy, Delayed CNS myeli... |
OMIM:618468 |
Leber Congenital Amaurosis 4 |
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Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy |
OMIM:604393 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
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Axonal degeneration, Distal sensory impairment, Foot dorsiflexor weakness, Gait disturbance, Step... |
OMIM:616155 |
Optic Atrophy 9 |
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Optic atrophy |
OMIM:616289 |
Spastic Paraparesis And Deafness |
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Tremor, Spastic paraparesis |
OMIM:312910 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
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Inability to walk, Cerebral atrophy, Corpus callosum atrophy, Truncal ataxia, Cerebellar atrophy |
OMIM:615268 |
Cog5-Cdg |
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Sensorineural hearing impairment, Delayed myelination, Joint contracture of the hand, Brain atrop... |
ORPHA:263487 |
Progressive Myoclonic Epilepsy With Dystonia |
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Hemiplegia, Diffuse cerebellar atrophy, EEG with irregular generalized spike and wave complexes, ... |
ORPHA:352596 |
Spinocerebellar Ataxia 25 |
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Ataxia, Abolished vibration sense, Reduced visual acuity, Babinski sign, Facial myokymia, Decreas... |
OMIM:608703 |
Spastic Ataxia, Charlevoix-Saguenay Type |
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Ataxia, Cerebellar vermis atrophy, Hypermyelinated retinal nerve fibers, Babinski sign, Falls, Sp... |
OMIM:270550 |
Myoclonic-Atonic Epilepsy |
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Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Leukodystrophy, Hypomyelinating, 6 |
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Ataxia, Leukodystrophy, Rigidity, Cerebral hypomyelination, Optic atrophy, Tremor, Choreoathetosi... |
OMIM:612438 |
Childhood-Onset Spasticity With Hyperglycinemia |
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Hypertonia, Ataxia, Left ventricular hypertrophy, Spastic diplegia, Babinski sign, Myoclonus, Leu... |
ORPHA:401866 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
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Ataxia, Dysmetria, Peripheral axonal neuropathy, Foot dorsiflexor weakness, Distal amyotrophy, Di... |
OMIM:618387 |
Retinitis Pigmentosa 1 |
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Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, U... |
OMIM:180100 |
Retinitis Pigmentosa 4 |
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Visual field defect, Nyctalopia, Rod-cone dystrophy, Abnormal electroretinogram, Pigmentary retin... |
OMIM:613731 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Clumsiness, Decreased nerve conduction velocity, Tip-toe gait, Reduced visual acuity, Abnormality... |
ORPHA:309256 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
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Peripheral axonal atrophy, Decreased motor nerve conduction velocity, Foot dorsiflexor weakness, ... |
OMIM:600882 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
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Ataxia, Tremor, Spasticity, Apraxia, Dystonia |
OMIM:615889 |
Congenital Stationary Night Blindness |
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Hypermetropia, Congenital stationary night blindness with normal fundus, Abnormality of retinal p... |
ORPHA:215 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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Sensorineural hearing impairment, Optic neuropathy, Ataxia, Concentric hypertrophic cardiomyopath... |
OMIM:252010 |
Bietti Crystalline Dystrophy |
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Subretinal deposits, Nyctalopia, Cystoid macular edema, Constriction of peripheral visual field, ... |
ORPHA:41751 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
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Papilledema, Retinal arteriolar constriction |
OMIM:124950 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
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Severe sensorineural hearing impairment, Amyotrophy of ankle musculature, Intrinsic hand muscle a... |
ORPHA:90103 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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Inability to walk, Abnormal best corrected visual acuity test, Abnormal cerebellar vermis morphol... |
ORPHA:300570 |
Leber Congenital Amaurosis 5 |
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Hypermetropia, High hypermetropia, Visual loss, Undetectable electroretinogram, Visual impairment |
OMIM:604537 |
Ataxia-Telangiectasia-Like Disorder |
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Ataxia, Dysmetria, Intention tremor, Myoclonus, Dysdiadochokinesis, Dilated fourth ventricle, Cho... |
ORPHA:251347 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
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Segmental peripheral demyelination/remyelination, Distal sensory impairment, Distal amyotrophy, U... |
OMIM:607791 |
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
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Broad-based gait, Multiple joint contractures, Diffuse cerebellar atrophy, Progressive cerebellar... |
ORPHA:363429 |
Charcot-Marie-Tooth Disease Type 1F |
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Flexion contracture of finger, Inability to walk, Limb ataxia, Demyelinating motor neuropathy, Pr... |
ORPHA:101085 |
Paralysis Agitans, Juvenile, Of Hunt |
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Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia |
OMIM:168100 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
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Optic atrophy |
ORPHA:1538 |
Neuropathy, Congenital Hypomyelinating, 2 |
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Facial diplegia, Inability to walk, Sensory ataxia, Onion bulb formation, Decreased motor nerve c... |
OMIM:618184 |
Spinal Muscular Atrophy, Jokela Type |
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Tremor, Fasciculations, Distal sensory impairment |
OMIM:615048 |
Exudative Vitreoretinopathy 3 |
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Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate |
OMIM:605750 |
Primary Non-Essential Cutis Verticis Gyrata |
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Reduced visual acuity, Abnormality of pattern visual evoked potentials |
ORPHA:357225 |
Spastic Paraplegia 7, Autosomal Recessive |
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Cerebral cortical atrophy, Spastic ataxia, Dysmetria, Impaired vibration sensation in the lower l... |
OMIM:607259 |
Epilepsy, Progressive Myoclonic, 11 |
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Ataxia, Intention tremor, Myoclonus, Rigidity, Giant somatosensory evoked potentials, Cerebellar ... |
OMIM:618876 |
Central Retinal Vein Occlusion |
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Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Autosomal Recessive Spastic Paraplegia Type 45 |
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Optic atrophy |
ORPHA:320396 |
Bothnia Retinal Dystrophy |
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Abnormal electroretinogram, Nyctalopia, Macular degeneration, Retinal dystrophy |
OMIM:607475 |
Ceroid Lipofuscinosis, Neuronal, 5 |
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Ataxia, Abnormal nervous system electrophysiology, Clumsiness, Retinal degeneration, Dysmetria, M... |
OMIM:256731 |
Dandy-Walker Malformation With Postaxial Polydactyly |
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Hydrocephalus, Aortic valve stenosis, Chorioretinal atrophy, Dilated fourth ventricle, Truncal at... |
OMIM:220220 |
Retinitis Pigmentosa 86 |
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Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... |
OMIM:618613 |
Peho Syndrome |
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Neuronal loss in central nervous system, Myoclonus, Optic atrophy, Undetectable visual evoked pot... |
OMIM:260565 |
Wolfram-Like Syndrome, Autosomal Dominant |
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Optic atrophy, Optic disc pallor |
OMIM:614296 |
Spinocerebellar Ataxia 45 |
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Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:617769 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
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Broad-based gait, Cerebral palsy, Dysdiadochokinesis, Cerebellar atrophy |
OMIM:605388 |
Ceroid Lipofuscinosis, Neuronal, 1 |
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Ataxia, EEG abnormality, Retinal degeneration, Macular degeneration, Flexion contracture, Cerebra... |
OMIM:256730 |
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency |
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Cerebellar vermis atrophy, Brain atrophy, Limb ataxia, Truncal ataxia, Difficulty walking |
ORPHA:363432 |
Machado-Joseph Disease Type 1 |
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Clumsiness, Progressive cerebellar ataxia, Diplopia, Abnormality of extrapyramidal motor function... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
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Clumsiness, Progressive cerebellar ataxia, Diplopia, Abnormality of extrapyramidal motor function... |
ORPHA:276241 |
Cone-Rod Dystrophy 2 |
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Nyctalopia, Constriction of peripheral visual field, Color vision defect, Reduced visual acuity, ... |
OMIM:120970 |
Migraine, Familial Hemiplegic, 1 |
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Hemiplegia, Ataxia, Transient unilateral blurring of vision, Hemiparesis, Tremor, Cerebellar atrophy |
OMIM:141500 |
Congenital Hydrocephalus |
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Sensorineural hearing impairment, Hydrocephalus, Optic atrophy, Posteriorly rotated ears, Ventric... |
ORPHA:2185 |
Spinocerebellar Ataxia, X-Linked 1 |
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Intention tremor, Ataxia, Action tremor |
OMIM:302500 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
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Spastic paraplegia, Tremor, Babinski sign |
OMIM:300660 |
Anencephaly 1 |
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Spina bifida, Anencephaly |
OMIM:206500 |
Neural Tube Defects, X-Linked |
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Spina bifida, Anencephaly |
OMIM:301410 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
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Mental deterioration, Visual loss, Undetectable visual evoked potentials, Cerebral visual impairm... |
OMIM:619051 |
Spastic Paraplegia 79, Autosomal Recessive |
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Ataxia, Cerebral atrophy, Flexion contracture, Dysmetria, Intention tremor, Ankle clonus, Babinsk... |
OMIM:615491 |
Autosomal Recessive Spastic Paraplegia Type 57 |
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Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:431329 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
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Ataxia, Cerebral cortical atrophy, Peripheral axonal neuropathy, Visual loss, Optic atrophy, Diff... |
OMIM:619425 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
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EEG abnormality, Inability to walk, Dysmetria, Cerebellar hypoplasia, Optic atrophy, Tremor, Gait... |
OMIM:617810 |
Neuromyelitis Optica Spectrum Disorder |
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Neuronal loss in central nervous system, Optic neuritis, Visual loss, Somatic sensory dysfunction... |
ORPHA:71211 |
Ceroid Lipofuscinosis, Neuronal, 3 |
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Loss of ambulation, Abnormal cerebellum morphology, Retinal degeneration, Macular degeneration, C... |
OMIM:204200 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
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Kinetic tremor, Tremor |
OMIM:611808 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
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Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... |
OMIM:607688 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
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Frequent falls, Tremor, Myoclonus, Dystonia |
OMIM:619647 |
Spongiform Encephalopathy With Neuropsychiatric Features |
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Gliosis |
OMIM:606688 |
Hemimegalencephaly |
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Optic atrophy, Gliosis, Abnormal neuron morphology |
ORPHA:99802 |
Hemiparkinsonism-Hemiatrophy Syndrome |
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Bradykinesia, Brain atrophy, Cerebral cortical hemiatrophy, Parkinsonism, Hemiparesis, Lateral ve... |
ORPHA:306669 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
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Ataxia, Cerebellar vermis atrophy, Flexion contracture, Dysmetria, Dysdiadochokinesis, Babinski s... |
OMIM:616204 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
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Hydrocephalus, Agenesis of cerebellar vermis, Undetectable visual evoked potentials, Cerebellar v... |
ORPHA:163961 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
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Ataxia, Cerebral cortical atrophy, Loss of ambulation, Clumsiness, Sensory axonal neuropathy, Atr... |
OMIM:271245 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
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Elevated hepatic transaminase, Abnormal mitochondrial morphology, Jaundice, Hepatic failure |
OMIM:618528 |
Metachromatic Leukodystrophy, Juvenile Form |
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Clumsiness, Decreased nerve conduction velocity, Intention tremor, Reduced visual acuity, Abnorma... |
ORPHA:309263 |
Achromatopsia |
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Color vision test abnormality, Hypermetropia, Photophobia, Absent foveal reflex, Color vision def... |
ORPHA:49382 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
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Optic atrophy |
OMIM:309555 |
Folinic Acid-Responsive Seizures |
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Sensorineural hearing impairment, Broad-based gait, Ataxia, Hypertonia, Delayed myelination, Cere... |
ORPHA:79097 |
Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape, Hypertrophic cardiomyopathy |
OMIM:610773 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
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Hypertonia, Delayed myelination, EEG with polyspike wave complexes, EEG with focal sharp waves, M... |
ORPHA:284417 |
Leukodystrophy, Hypomyelinating, 15 |
|
Sensorineural hearing impairment, Hypermetropia, Ataxia, Loss of ambulation, Cerebral atrophy, In... |
OMIM:617951 |
Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria, Tremor, Cogwheel rigidity, Somatic... |
ORPHA:363710 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Left ventricular hypertrophy, Elevated circulating creatinine concentration,... |
OMIM:616733 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
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Facial diplegia, Decreased activity of mitochondrial ATP synthase complex, Inability to walk, Cer... |
OMIM:609560 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
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Ataxia, Dysmetria, Visual loss, Optic disc pallor, Spasticity, Cerebellar atrophy, Hearing impair... |
OMIM:617954 |
Peroxisome Biogenesis Disorder 8B |
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Sensorineural hearing impairment, Decreased liver function, Ataxia, Cerebellar vermis atrophy, Dy... |
OMIM:614877 |
X-Linked Progressive Cerebellar Ataxia |
|
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Limb ataxia, Dysmetria, Int... |
ORPHA:1175 |
Leukodystrophy, Hypomyelinating, 13 |
|
Optic atrophy |
OMIM:616881 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Onion bulb formation, Unsteady gait, Dysesthesia, Distal lower limb muscle weakness, Acute demyel... |
ORPHA:98916 |
Leukodystrophy, Hypomyelinating, 18 |
|
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Flexion contracture, Dy... |
OMIM:618404 |
Retinitis Pigmentosa 93 |
|
Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, Undetectable ... |
OMIM:619845 |
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language |
|
Ataxia, Inability to walk, Delayed myelination, Cerebral atrophy, Chorea, Involuntary movements, ... |
OMIM:617804 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Ataxia, High hypermetropia, Brain atrophy, Retinal degeneration... |
OMIM:619260 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Peripapillary atrophy, Retinal dystrophy, Retinal pigment epithelial atrophy |
OMIM:616188 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
EEG abnormality, Cerebral atrophy, Myoclonus, Babinski sign, Gait disturbance, Abnormal upper mot... |
OMIM:221770 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Gliosis, Axonal loss |
OMIM:300857 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:617133 |
Leber Congenital Amaurosis 9 |
|
Photophobia, Hypermetropia, Ultra-low vision with retained light perception, Nyctalopia, Color vi... |
OMIM:608553 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy |
ORPHA:85297 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function |
OMIM:615362 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, Babinski sign, Gait ataxia, CNS demyelination, Spastic tetra... |
OMIM:249900 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Babinski... |
OMIM:602433 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Dist... |
OMIM:605253 |
Spinocerebellar Ataxia Type 14 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Somatic sensory dysfunct... |
ORPHA:98763 |
White-Sutton Syndrome |
|
Hypermetropia, Abnormal electroretinogram, Tics, Delayed CNS myelination, Abnormality of the oute... |
OMIM:616364 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Usher Syndrome, Type Iiib |
|
Optic disc pallor |
OMIM:614504 |
Ichthyosis, Spastic Quadriplegia, And Mental Retardation |
|
Hypertonia, Delayed myelination, Brain atrophy, Flexion contracture, Abnormality of visual evoked... |
OMIM:614457 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Tremor |
OMIM:264070 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... |
ORPHA:79262 |
Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Macular atrophy |
OMIM:617460 |
Spinocerebellar Ataxia Type 30 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia |
ORPHA:211017 |
Mucolipidosis Iv |
|
Photophobia, Cerebral dysmyelination, Dysplastic corpus callosum, Retinal degeneration, Babinski ... |
OMIM:252650 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, Gliosis, Abnormal autonomic nervous system physiology |
OMIM:614498 |
Metachromatic Leukodystrophy, Adult Form |
|
Clumsiness, Decreased nerve conduction velocity, Orthostatic hypotension due to autonomic dysfunc... |
ORPHA:309271 |
Ribose 5-Phosphate Isomerase Deficiency |
|
Optic atrophy |
OMIM:608611 |
Spinocerebellar Ataxia Type 5 |
|
Gait disturbance, Incoordination, Slurred speech, Cerebellar atrophy |
ORPHA:98766 |
Retinohepatoendocrinologic Syndrome |
|
Optic disc pallor, Cone dystrophy |
OMIM:268040 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Weakness of facial musculature, Ragged-red muscle fibers, Dilated cardiomyopathy, Decreased mitoc... |
ORPHA:352447 |
Microlissencephaly |
|
Cerebral dysmyelination, Hypertonia, Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy |
ORPHA:1083 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Hypertonia, Cerebral atrophy, Ventriculomegaly, Cerebellar atrophy, Spastic tetraplegia |
OMIM:618730 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Broad-based gait, Inability to walk, Axonal degeneration, Vocal cord paralysis, Peripheral axonal... |
OMIM:615490 |
Striatonigral Degeneration, Infantile |
|
Optic atrophy |
OMIM:271930 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Babinski sign, Spastic paraplegia, Tremor, Clonu... |
OMIM:600363 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity |
OMIM:615768 |
Polymicrogyria Due To Tubb2B Mutation |
|
Hemianopia, Oromotor apraxia, Hemiparesis, Hypoplasia of the pons, Lateral ventricle dilatation, ... |
ORPHA:300573 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Ataxia, Dysmyelinating leukodystrophy, Dysmetria, Ankle clonus, Dysdiadochokinesis, Babinski sign... |
OMIM:612319 |
Jalili Syndrome |
|
Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:217080 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... |
OMIM:613908 |
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy |
|
Sensorineural hearing impairment, Spastic tetraparesis, Brain atrophy, Cerebellar atrophy |
OMIM:618741 |
Mitochondrial Dna Depletion Syndrome 17 |
|
Cerebral atrophy, Hepatic failure, Chorea, Decreased activity of mitochondrial complex IV, Decrea... |
OMIM:618567 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Decreased nerve conduction velocity, Axonal degeneration, Diaphragmatic eventration, Camptodactyl... |
OMIM:604320 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Clumsiness, Global brain atrophy, Hypsarrhythmia |
ORPHA:324422 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Onion bulb formation, Axonal regeneration, Distal sensory impairment, Steppage gait |
OMIM:615185 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Bradykinesia, Limb ataxia, Atrophy/Degeneration affecting the brainstem, Limb myoclo... |
OMIM:619862 |
Spinocerebellar Ataxia 41 |
|
Ataxia, Unsteady gait, Cerebellar atrophy |
OMIM:616410 |
Lattice Degeneration Of Retina Leading To Retinal Detachment |
|