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Gene: Opa1 MGI:1921393

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Gene Summary

Name:
OPA1, mitochondrial dynamin like GTPase
Synonyms:
optic atrophy 1,  1200011N24Rik,  lilr3

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal neural tube closure Opa1em1(IMPC)Bay HOM E9.5 0.00
preweaning lethality, complete penetrance Opa1em1(IMPC)Bay HOM   Early adult 0.00
abnormal forebrain development Opa1em1(IMPC)Bay HOM E9.5 0.00
embryonic growth retardation Opa1em1(IMPC)Bay HOM E9.5 0.00
abnormal heart morphology Opa1em1(IMPC)Bay HOM E9.5 0.00
abnormal embryo turning Opa1em1(IMPC)Bay HOM E9.5 0.00
abnormal neural tube morphology Opa1em1(IMPC)Bay HOM E9.5 0.00
embryonic lethality prior to tooth bud stage Opa1em1(IMPC)Bay HOM   E12.5 0.00
abnormal embryo size Opa1em1(IMPC)Bay HOM E9.5 0.00
abnormal visceral yolk sac morphology Opa1em1(IMPC)Bay HOM E9.5 0.00
abnormal somite shape Opa1em1(IMPC)Bay HOM E9.5 0.00
abnormal pharyngeal arch morphology Opa1em1(IMPC)Bay HOM E9.5 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

VIP of left eye

18 Images

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Eye Morphology

VIP of right fundus

18 Images

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Eye Morphology

VIP of left fundus

17 Images

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MicroCT E9.5

Embryo reconstruction

5 Images

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Eye Morphology

VIP of right eye

12 Images

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Human diseases caused by Opa1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Opa1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Optic Atrophy 1
Centrocecal scotoma, Tritanomaly, Abnormal amplitude of pattern reversal visual evoked potentials... OMIM:165500
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Motor axonal neuropathy, A... ORPHA:1215
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
Behr Syndrome
Hamstring contractures, Ataxia, Dysmetria, Babinski sign, Adductor longus contractures, Optic atr... OMIM:210000
Autosomal Dominant Optic Atrophy, Classic Form
Sensorineural hearing impairment, Ataxia, Color vision defect, Weakness of facial musculature, Mo... ORPHA:98673
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896

The table below shows human diseases predicted to be associated to Opa1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Åland 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
Abnormal peripheral myelination, Flexion contracture of finger, Inability to walk, Brain atrophy,... ORPHA:466768
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dilated fourth ventricle, Diffuse cerebral atrophy,... ORPHA:1170
Cone-Rod Dystrophy, X-Linked, 3
Photophobia, Absent foveal reflex, Abnormal light- and dark-adapted electroretinogram, Color visi... OMIM:300476
Neurodegeneration With Brain Iron Accumulation
Optic atrophy, Retinopathy ORPHA:385
Developmental And Epileptic Encephalopathy 76
Inability to walk, Cerebral atrophy, Upper limb spasticity, Cerebellar atrophy, Delayed CNS myeli... OMIM:618468
Leber Congenital Amaurosis 4
Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy OMIM:604393
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration, Distal sensory impairment, Foot dorsiflexor weakness, Gait disturbance, Step... OMIM:616155
Optic Atrophy 9
Optic atrophy OMIM:616289
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Cerebral atrophy, Corpus callosum atrophy, Truncal ataxia, Cerebellar atrophy OMIM:615268
Cog5-Cdg
Sensorineural hearing impairment, Delayed myelination, Joint contracture of the hand, Brain atrop... ORPHA:263487
Progressive Myoclonic Epilepsy With Dystonia
Hemiplegia, Diffuse cerebellar atrophy, EEG with irregular generalized spike and wave complexes, ... ORPHA:352596
Spinocerebellar Ataxia 25
Ataxia, Abolished vibration sense, Reduced visual acuity, Babinski sign, Facial myokymia, Decreas... OMIM:608703
Spastic Ataxia, Charlevoix-Saguenay Type
Ataxia, Cerebellar vermis atrophy, Hypermyelinated retinal nerve fibers, Babinski sign, Falls, Sp... OMIM:270550
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Leukodystrophy, Hypomyelinating, 6
Ataxia, Leukodystrophy, Rigidity, Cerebral hypomyelination, Optic atrophy, Tremor, Choreoathetosi... OMIM:612438
Childhood-Onset Spasticity With Hyperglycinemia
Hypertonia, Ataxia, Left ventricular hypertrophy, Spastic diplegia, Babinski sign, Myoclonus, Leu... ORPHA:401866
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Peripheral axonal neuropathy, Foot dorsiflexor weakness, Distal amyotrophy, Di... OMIM:618387
Retinitis Pigmentosa 1
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, U... OMIM:180100
Retinitis Pigmentosa 4
Visual field defect, Nyctalopia, Rod-cone dystrophy, Abnormal electroretinogram, Pigmentary retin... OMIM:613731
Metachromatic Leukodystrophy, Late Infantile Form
Clumsiness, Decreased nerve conduction velocity, Tip-toe gait, Reduced visual acuity, Abnormality... ORPHA:309256
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Peripheral axonal atrophy, Decreased motor nerve conduction velocity, Foot dorsiflexor weakness, ... OMIM:600882
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia OMIM:615889
Congenital Stationary Night Blindness
Hypermetropia, Congenital stationary night blindness with normal fundus, Abnormality of retinal p... ORPHA:215
Mitochondrial Complex I Deficiency, Nuclear Type 1
Sensorineural hearing impairment, Optic neuropathy, Ataxia, Concentric hypertrophic cardiomyopath... OMIM:252010
Bietti Crystalline Dystrophy
Subretinal deposits, Nyctalopia, Cystoid macular edema, Constriction of peripheral visual field, ... ORPHA:41751
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Severe sensorineural hearing impairment, Amyotrophy of ankle musculature, Intrinsic hand muscle a... ORPHA:90103
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Abnormal best corrected visual acuity test, Abnormal cerebellar vermis morphol... ORPHA:300570
Leber Congenital Amaurosis 5
Hypermetropia, High hypermetropia, Visual loss, Undetectable electroretinogram, Visual impairment OMIM:604537
Ataxia-Telangiectasia-Like Disorder
Ataxia, Dysmetria, Intention tremor, Myoclonus, Dysdiadochokinesis, Dilated fourth ventricle, Cho... ORPHA:251347
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Distal sensory impairment, Distal amyotrophy, U... OMIM:607791
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Broad-based gait, Multiple joint contractures, Diffuse cerebellar atrophy, Progressive cerebellar... ORPHA:363429
Charcot-Marie-Tooth Disease Type 1F
Flexion contracture of finger, Inability to walk, Limb ataxia, Demyelinating motor neuropathy, Pr... ORPHA:101085
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:168100
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Inability to walk, Sensory ataxia, Onion bulb formation, Decreased motor nerve c... OMIM:618184
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Distal sensory impairment OMIM:615048
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Primary Non-Essential Cutis Verticis Gyrata
Reduced visual acuity, Abnormality of pattern visual evoked potentials ORPHA:357225
Spastic Paraplegia 7, Autosomal Recessive
Cerebral cortical atrophy, Spastic ataxia, Dysmetria, Impaired vibration sensation in the lower l... OMIM:607259
Epilepsy, Progressive Myoclonic, 11
Ataxia, Intention tremor, Myoclonus, Rigidity, Giant somatosensory evoked potentials, Cerebellar ... OMIM:618876
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Bothnia Retinal Dystrophy
Abnormal electroretinogram, Nyctalopia, Macular degeneration, Retinal dystrophy OMIM:607475
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Abnormal nervous system electrophysiology, Clumsiness, Retinal degeneration, Dysmetria, M... OMIM:256731
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Aortic valve stenosis, Chorioretinal atrophy, Dilated fourth ventricle, Truncal at... OMIM:220220
Retinitis Pigmentosa 86
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... OMIM:618613
Peho Syndrome
Neuronal loss in central nervous system, Myoclonus, Optic atrophy, Undetectable visual evoked pot... OMIM:260565
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:614296
Spinocerebellar Ataxia 45
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:617769
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Cerebral palsy, Dysdiadochokinesis, Cerebellar atrophy OMIM:605388
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, EEG abnormality, Retinal degeneration, Macular degeneration, Flexion contracture, Cerebra... OMIM:256730
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Cerebellar vermis atrophy, Brain atrophy, Limb ataxia, Truncal ataxia, Difficulty walking ORPHA:363432
Machado-Joseph Disease Type 1
Clumsiness, Progressive cerebellar ataxia, Diplopia, Abnormality of extrapyramidal motor function... ORPHA:276238
Machado-Joseph Disease Type 2
Clumsiness, Progressive cerebellar ataxia, Diplopia, Abnormality of extrapyramidal motor function... ORPHA:276241
Cone-Rod Dystrophy 2
Nyctalopia, Constriction of peripheral visual field, Color vision defect, Reduced visual acuity, ... OMIM:120970
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Transient unilateral blurring of vision, Hemiparesis, Tremor, Cerebellar atrophy OMIM:141500
Congenital Hydrocephalus
Sensorineural hearing impairment, Hydrocephalus, Optic atrophy, Posteriorly rotated ears, Ventric... ORPHA:2185
Spinocerebellar Ataxia, X-Linked 1
Intention tremor, Ataxia, Action tremor OMIM:302500
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign OMIM:300660
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Mental deterioration, Visual loss, Undetectable visual evoked potentials, Cerebral visual impairm... OMIM:619051
Spastic Paraplegia 79, Autosomal Recessive
Ataxia, Cerebral atrophy, Flexion contracture, Dysmetria, Intention tremor, Ankle clonus, Babinsk... OMIM:615491
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Ataxia, Cerebral cortical atrophy, Peripheral axonal neuropathy, Visual loss, Optic atrophy, Diff... OMIM:619425
Glycosylphosphatidylinositol Biosynthesis Defect 15
EEG abnormality, Inability to walk, Dysmetria, Cerebellar hypoplasia, Optic atrophy, Tremor, Gait... OMIM:617810
Neuromyelitis Optica Spectrum Disorder
Neuronal loss in central nervous system, Optic neuritis, Visual loss, Somatic sensory dysfunction... ORPHA:71211
Ceroid Lipofuscinosis, Neuronal, 3
Loss of ambulation, Abnormal cerebellum morphology, Retinal degeneration, Macular degeneration, C... OMIM:204200
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Hemimegalencephaly
Optic atrophy, Gliosis, Abnormal neuron morphology ORPHA:99802
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Brain atrophy, Cerebral cortical hemiatrophy, Parkinsonism, Hemiparesis, Lateral ve... ORPHA:306669
Spinocerebellar Ataxia, Autosomal Recessive 18
Ataxia, Cerebellar vermis atrophy, Flexion contracture, Dysmetria, Dysdiadochokinesis, Babinski s... OMIM:616204
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Agenesis of cerebellar vermis, Undetectable visual evoked potentials, Cerebellar v... ORPHA:163961
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Ataxia, Cerebral cortical atrophy, Loss of ambulation, Clumsiness, Sensory axonal neuropathy, Atr... OMIM:271245
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Elevated hepatic transaminase, Abnormal mitochondrial morphology, Jaundice, Hepatic failure OMIM:618528
Metachromatic Leukodystrophy, Juvenile Form
Clumsiness, Decreased nerve conduction velocity, Intention tremor, Reduced visual acuity, Abnorma... ORPHA:309263
Achromatopsia
Color vision test abnormality, Hypermetropia, Photophobia, Absent foveal reflex, Color vision def... ORPHA:49382
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Folinic Acid-Responsive Seizures
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
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)
Facial diplegia, Decreased activity of mitochondrial ATP synthase complex, Inability to walk, Cer... OMIM:609560
Multiple Mitochondrial Dysfunctions Syndrome 6
Ataxia, Dysmetria, Visual loss, Optic disc pallor, Spasticity, Cerebellar atrophy, Hearing impair... OMIM:617954
Peroxisome Biogenesis Disorder 8B
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