Gene Summary

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
embryonic growth retardation Opa1em1(IMPC)Bay HOM E9.5 0.00
abnormal pharyngeal arch morphology Opa1em1(IMPC)Bay HOM E9.5 0.00
preweaning lethality, complete penetrance Opa1em1(IMPC)Bay HOM   Early adult 0.00
embryonic lethality prior to tooth bud stage Opa1em1(IMPC)Bay HOM   E12.5 0.00
abnormal neural tube morphology Opa1em1(IMPC)Bay HOM E9.5 0.00
abnormal forebrain development 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 neural tube closure Opa1em1(IMPC)Bay HOM E9.5 0.00
abnormal embryo size 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

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Viewing: all phenotypes

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 right eye

18 Images

Eye Morphology

VIP of left fundus

18 Images

Eye Morphology

VIP of right fundus

18 Images

Eye Morphology

VIP of left eye

18 Images

MicroCT E9.5

Embryo reconstruction

5 Images

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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Retinitis Pigmentosa 42
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu... OMIM:612943
Optic Atrophy 5
Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Abnormality of patte... OMIM:610708
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Autosomal Recessive Spastic Paraplegia Type 74
Cerebellar atrophy, Peripheral axonal neuropathy, Babinski sign, Optic atrophy, Decreased activit... ORPHA:468661
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Central scotoma... ORPHA:827
Spastic Paraplegia Type 7
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Ragged-red muscle fibers, Imp... ORPHA:99013
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Dilated fourth ventricle, Torticollis, Ataxia, Decreased activity of mitochondrial complex IV, Ce... 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
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction v... ORPHA:485421
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebellar vermis hypoplasia, Ataxia, Abnormal mito... ORPHA:543470
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Macular Dystrophy, Vitelliform, 2
Abnormal electroretinogram, Reduced visual acuity, Subretinal fluid, Cystoid macular degeneration... OMIM:153700
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Tritanopia
Tritanomaly, Dyschromatopsia, Abnormal light-adapted electroretinogram, Color vision defect OMIM:190900
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Hand muscle weakness, ... OMIM:302800
Optic Atrophy 9
Optic disc pallor, Optic atrophy OMIM:616289
Occult Macular Dystrophy
Abnormal multifocal electroretinogram, Macular dystrophy, Slow decrease in visual acuity OMIM:613587
Optic Atrophy 8
Abnormal auditory evoked potentials, Visual loss, Central scotoma, Abnormality of pattern visual ... OMIM:616648
Optic Atrophy 1
Central scotoma, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Abnormal amplit... OMIM:165500
Mepan Syndrome
Cerebellar atrophy, Ataxia, Chorea, Decreased activity of mitochondrial complex IV, Optic atrophy... ORPHA:508093
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Impaired vibratory sensation, Thenar muscle atrophy, Mitochondrial ... OMIM:500013
Friedreich Ataxia
Impaired vibratory sensation, Ataxia, Babinski sign, Impaired proprioception, Decreased pyruvate ... OMIM:229300
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Charcot-Marie-Tooth Disease Type 2B1
Hand muscle atrophy, Decreased motor nerve conduction velocity, Hand muscle weakness, Peroneal mu... ORPHA:98856
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... OMIM:618195
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Sensorineural hearing impairment, Optic atrophy... OMIM:311070
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Macular Dystrophy, Vitelliform, 4
Moderately reduced visual acuity, Drusen, Decreased Arden ratio of electrooculogram, Vitelliform-... OMIM:616151
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Loss of ambulation, Ataxia, Limb trem... OMIM:614877
Charcot-Marie-Tooth Disease, Type 4D
Myopia, Claw hand deformity, Abnormal auditory evoked potentials, Impaired distal proprioception,... OMIM:601455
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Hsd10 Mitochondrial Disease
Visual loss, Sensorineural hearing impairment, Optic atrophy, Abnormal mitochondrial morphology, ... OMIM:300438
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... OMIM:616394
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Constriction of peripheral visual field, Ataxia, Limb-girdle... ORPHA:1215
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Skeletal muscle atrophy, Hand muscle weakness, Impaired distal pr... ORPHA:101097
Canavan Disease
Abnormality of retinal pigmentation, Blindness, Optic atrophy, Cognitive impairment, Abnormality ... ORPHA:141
Krabbe Disease
Abnormal flash visual evoked potentials, Diffuse cerebral atrophy, Blindness, Decreased nerve con... OMIM:245200
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Usher Syndrome, Type I
Visual loss, Rod-cone dystrophy, Abnormal electroretinogram, Undetectable electroretinogram OMIM:276900
Late-Infantile/Juvenile Krabbe Disease
Tremor, EEG with persistent abnormal rhythmic activity, Upper limb muscle weakness, Loss of ambul... ORPHA:206443
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Decreased nerve conduction velocity, Tremor, Vocal cord par... ORPHA:397744
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, Optic disc pallor, Ataxia, EEG with abnormally slow frequencies, Inability to... ORPHA:1947
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Demyelinating motor neuropathy, Tremor, Motor conducti... ORPHA:206594
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Decreased number of large peripheral myelinated nerve fibers, Decre... ORPHA:90103
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia ORPHA:217012
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Abnormal electroretinogram, Visual field defect, Rod-con... OMIM:613809
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Decreased motor ... OMIM:614895
Lipedema
Edema OMIM:614103
Muscular Dystrophy, Congenital, Megaconial Type
Waddling gait, Facial palsy, Mitochondrial hypertrophy, Dilated cardiomyopathy, Myopathy, Muscula... OMIM:602541
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... OMIM:601596
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Visual loss, Unsteady gait, Opti... OMIM:256600
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Cerebellar atrophy, Camptodactyly of finger, Optic atrophy, Slurred speech, EEG with generalized ... OMIM:619323
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Nescav Syndrome
Cerebellar atrophy, Appendicular spasticity, Peripheral axonal neuropathy, Ataxia, Cerebral visua... OMIM:614255
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:609260
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Impaired pain sensation, Fatty replacement of skeletal muscle, Decreased compound muscle action p... OMIM:618279
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Red-green dyschromatopsia, Central scotoma, Optic at... OMIM:125250
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Delayed CNS myelination, Incoordination, Ataxia, Clonus, Cerebral visual impa... OMIM:616034
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Spastic Paraplegia 55, Autosomal Recessive
Lower limb spasticity, Onion bulb formation, Tibialis anterior muscle atrophy, Peripheral axonal ... OMIM:615035
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Cerebral visual impairment, Tremor, Preling... ORPHA:52368
Cln5 Disease
Tremor, Dysmetria, EEG with focal spikes, Abnormal central motor function, Ataxia, Atrophy/Degene... ORPHA:228360
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Tremor, Babinski sign, Flexion contracture, Spasticity OMIM:611105
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Unste... ORPHA:497764
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment OMIM:617018
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen... OMIM:601152
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Peripheral axonal neuropathy, Blindness, Ataxia, Incoordination, Visual loss, Sensorineural heari... OMIM:601338
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Skeletal muscle atrophy, Abnormal flash visual evoked potentials, Postural tr... ORPHA:98755
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... OMIM:601098
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased... OMIM:214400
Mitochondrial Complex I Deficiency, Nuclear Type 19
Cerebellar atrophy, Cerebral visual impairment, Rigidity, Inability to walk, Delayed myelination,... OMIM:618241
Dystonia-Aphonia Syndrome
Cerebellar atrophy, Abnormal mitochondrial shape, Unsteady gait, Cerebral atrophy, Macroglossia, ... ORPHA:412217
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Delayed myelination, Axonal degeneration, Poor coordination, Decreased activity... ORPHA:478029
X-Linked Retinoschisis
Abnormality of vision, Retinoschisis, Abnormal electroretinogram ORPHA:792
Chronic Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Hand muscle weakness, Segmental peripheral demyelination/remyelinati... ORPHA:2932
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ragged-red muscle fibers... ORPHA:457050
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Abnormal electroretinogram, Visual field defect, Rod-cone dys... OMIM:609923
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Blindness, Ataxia, Spastic tetraparesis, Cerebe... ORPHA:35069
Null Syndrome
Ataxia, Decreased nerve conduction velocity, Abnormal cerebellum morphology, Inability to walk, O... ORPHA:280234
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Spinal muscular atrophy, Hypoplasia of the pons, Limb ataxia, Hand tremor, Hypoplasia of ... OMIM:607596
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... OMIM:614561
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Delayed CNS myelination, Optic neuropathy, Axonal degeneration, Optic atrophy... OMIM:616811
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Axonal degeneration/re... OMIM:614436
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Ataxia, Retinal dystrophy, EEG with generalized polyspikes, Optic atrophy, Vi... OMIM:614706
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Posterior Column Ataxia With Retinitis Pigmentosa
Skeletal muscle atrophy, Bone spicule pigmentation of the retina, Impaired vibration sensation in... OMIM:609033
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impai... ORPHA:1933
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormal amplitude of flash visual evoked potentials, EEG with generalized slow activity grade 4,... ORPHA:168491
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:616451
Adult Krabbe Disease
Hoffmann sign, Upper limb muscle weakness, Lower limb muscle weakness, Abnormal medulla oblongata... ORPHA:206448
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Abnormal electroretinogram, Optic atrophy, Cognitive impairm... ORPHA:2246
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy OMIM:616389
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Charcot-Marie-Tooth Disease Type 4G
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Peripheral axonal neurop... ORPHA:99953
Cerebrotendinous Xanthomatosis
Axonal degeneration, Abnormal pyramidal sign, Mitochondrial respiratory chain defects, Abnormal c... ORPHA:909
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:145900
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:118210
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Optic atrophy OMIM:165300
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Blindness, Ataxia, Visual loss, Optic atrophy, Cerebral atrophy, Pigmentary r... OMIM:610951
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Peripheral axonal degeneration, Proximal muscle weakness in upper limbs, Decreased number of peri... OMIM:607706
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Flexion contracture, Optic atrophy, Spastic tetraplegia, Myopathy, Decreased ... OMIM:618237
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Abnormal electroretinogram, Photophobia, Progres... OMIM:180020
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Mitochondrial hypertrophy, Sensorineural hearing impa... OMIM:619518
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Ragged-red muscle fibers, Muscle fiber atrophy, Scapular winging, Ataxia, F... ORPHA:254886
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic disc pallor, Optic atrophy OMIM:618511
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Ceroid Lipofuscinosis, Neuronal, 9
Rod-cone dystrophy, Optic atrophy OMIM:609055
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor... ORPHA:101010
Spinocerebellar Ataxia Type 25
Impaired pain sensation, Decreased number of large peripheral myelinated nerve fibers, Babinski s... ORPHA:101111
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Nonarteritic anterior ischemic optic neuropathy, Visual loss, Abnormal electroretinogram, Subcort... OMIM:125310
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Cach Syndrome
Cerebellar atrophy, Blindness, Dysmyelinating leukodystrophy, Atrophy/Degeneration affecting the ... ORPHA:135
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:118220
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Hypoplasia of the pons, Dysplastic corpus ca... OMIM:618276
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Cerebellar atrophy, Appendicular spasticity, Delayed CNS myelination, Cerebral visual impairment,... OMIM:618324
Charcot-Marie-Tooth Disease, Type 4H
Distal lower limb amyotrophy, Decreased number of peripheral myelinated nerve fibers, Small hypot... OMIM:609311
Sorsby Fundus Dystrophy
Macular dystrophy, Blindness, Abnormal electroretinogram, Chorioretinal atrophy OMIM:136900
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Cerebellar atrophy, Delayed CNS myelination, Ataxia, Impaired distal proprioception, Impaired dis... OMIM:619742
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Autosomal Recessive Spastic Paraplegia Type 44
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... ORPHA:320401
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Chorea, Impaired propriocepti... OMIM:164400
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Decreased testicular s... OMIM:604168
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:601718
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Hand muscle atrophy, Decreased motor nerve conduction velocity, Onion bulb formation, Decreased d... OMIM:607684
Choroideremia
Myopia, Abnormality of retinal pigmentation, Nyctalopia, Abnormal electroretinogram, Abnormality ... ORPHA:180
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Angioedema, Hereditary, 6
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619363
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... OMIM:617672
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607734
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Angulated muscle fibers, Decreased number of large peripheral myelinated ne... OMIM:608340
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Myopia, Abnormality of retinal pigmentation, Abnormal electroretinogram, Optic atrophy, Visual im... ORPHA:1574
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Abnormal cerebellum morphol... OMIM:256850
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Peripheral axonal degeneration, Ataxia, Decreased number of large peripheral ... OMIM:208920
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... OMIM:617087
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Roussy-Levy Hereditary Areflexic Dystasia
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:180800
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:608380
Spinocerebellar Ataxia 40
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... OMIM:616053
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:118200
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Delayed CNS myelination, Broad-based gait, Ataxia, Inability to walk, Dela... OMIM:617854
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Ataxia, Unsteady gait, Choreoathetosis, Myoclonus, Gait imbalance, Decreased ... OMIM:301020
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Tremor, Inability to walk,... ORPHA:330050
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Impaired pain sensation, Cryptorchidism, Low alkaline phosphatase, Hypsarrhyth... ORPHA:314389
Combined Oxidative Phosphorylation Defect Type 27
Diffuse cerebral atrophy, Involuntary movements, Upper limb postural tremor, Ragged-red muscle fi... ORPHA:477774
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebellar atrophy, Visual loss, Optic atrophy, Cerebral atrophy, Truncal ataxia OMIM:611726
Congenital Muscular Dystrophy With Cerebellar Involvement
Clonus, Hypoplasia of the pons, Abnormal pyramidal sign, Agenesis of corpus callosum, Myopia, Cal... ORPHA:370959
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Peripheral axonal degeneration, Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Decrease... OMIM:615157
Spinocerebellar Ataxia Type 38
Tremor, Somatic sensory dysfunction, Gait ataxia ORPHA:423296
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
L-2-Hydroxyglutaric Aciduria
Optic atrophy, Gliosis OMIM:236792
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Distal lower limb amyotrophy, Impaired vibratory sensation, Impaired pain sensation, Distal senso... OMIM:615185
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Abnormal dark-adapted electroretinogram, Macular degener... ORPHA:85128
Spastic Paraplegia 75, Autosomal Recessive
Cerebellar atrophy, Distal lower limb amyotrophy, Corpus callosum atrophy, Impaired distal vibrat... OMIM:616680
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Amblyopia, Reduced visual acuity, Depigmented fundus, Photophobia, Abnor... ORPHA:352731
Optic Atrophy 6
Optic atrophy OMIM:258500
Fumarase Deficiency
Decreased fumarate hydratase activity, Intrahepatic cholestasis, Choroid plexus cyst, Optic atrop... OMIM:606812
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials, Short stature, Cerebral visual impairment ORPHA:1389
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemipare... ORPHA:96
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Axonal degeneration/regeneration, Thenar muscle atrophy, Segmental peripheral demyelination/remye... OMIM:606483
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebellar atrophy, Ataxia, Involuntary movements, Hearing impairment, Elevated circulating aspar... OMIM:271245
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... OMIM:213200
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Ragged-red muscle fibers, Flexion contracture, Decreased activity of mit... ORPHA:17
Progressive Cone Dystrophy
Abnormality of retinal pigmentation, Abnormal electroretinogram, Photophobia, Visual impairment, ... ORPHA:1871
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Optic disc pallor, Peripheral axonal neuropathy, Lower limb spasticity, Ataxi... OMIM:619389
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma ORPHA:2732
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Blindness, Ventricular septal defect, Abnormal pinna morphology, Optic ... ORPHA:3078
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign ORPHA:85292
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Fundus atrophy, Nyctalopia, Abnormal electroretinogram, ... OMIM:613428
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Usher Syndrome, Type Iiib
Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels OMIM:614504
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Lower limb spasticity, Abnormal circulating enzyme concentration or activity, ... ORPHA:565624
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Impaired distal vibratio... OMIM:610100
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Lateral ventricle dilatation, Neurodegene... OMIM:615889
Spastic Paraplegia 32, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Spastic paraplegia, Babinski sign, Cerebral atrophy, A... OMIM:611252
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... OMIM:614831
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Episodic Kinesigenic Dyskinesia 2
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia OMIM:611031
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Skeletal muscle atrophy, Peripheral axonal neuropathy, Somatic sensory dysfunction, Steppage gait... OMIM:620378
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hand... OMIM:162500
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Spinal muscular atrophy, Optic atrophy,... OMIM:617207
Spastic Paraplegia 43, Autosomal Recessive
Optic atrophy OMIM:615043
Retinitis Pigmentosa 27
Blindness, Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Macu... OMIM:613750
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... OMIM:618138
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Machado-Joseph Disease
Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Ataxia, Abnormal elec... OMIM:109150
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Cerebellar vermis hypoplasia, Abnormal auditory evoked potentials, Amblyopia, ... OMIM:617523
Narp Syndrome
Optic disc pallor, Abnormal visual field test, Blindness, Ataxia, Constriction of peripheral visu... ORPHA:644
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Foot dorsiflexor weakness, Sensorineural hearing impairment, Distal sensory impairment, Distal am... OMIM:607736
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus OMIM:611092
Behr Syndrome
Cerebellar atrophy, Blindness, Ataxia, Tremor, Achilles tendon contracture, Unsteady gait, Optic ... OMIM:210000
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Impaired distal proprioception, Tremor, Flexion contracture, Impaired vibration sensation in the ... ORPHA:137898
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Impaired vibratory sensation, Decreased number of peripheral myelinated nerve... OMIM:607250
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Babinski sign, Cerebral atrophy, EEG abnormality, Lateral ventricle dilatation, ... OMIM:221770
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Lower limb muscle weakness, Dysmetria, ... ORPHA:313772
Autosomal Spastic Paraplegia Type 58
Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr... ORPHA:397946
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebellar atrophy, Myopia, Cerebral visual impairment, Corpus callosum atrophy, Abnormal electro... OMIM:616875
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Optic atrophy OMIM:620086
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Posteriorly rotated ears, Decreased act... OMIM:618378
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Abnormal lateral ventricle morphology, Severe demyelination of the white matt... ORPHA:488635
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Myopia, Retinal atrophy, Ataxia, Retinal dystroph... ORPHA:370022
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gai... OMIM:614322
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Ă…land Islands Eye Disease
Hypoplasia of the fovea, Myopia, Abnormal electroretinogram, Difficulty adjusting from light to d... ORPHA:178333
Spinocerebellar Ataxia 28
Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Ragged-red muscle fibers, Babinski... OMIM:610246
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
Leber Hereditary Optic Neuropathy
Ataxia, Postural tremor, Retinal telangiectasia, Central scotoma, Optic atrophy, Slow decrease in... ORPHA:104
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Cerebellar vermis hypoplasia, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Foot dorsiflexor w... ORPHA:98
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Dista... OMIM:608673
Charcot-Marie-Tooth Disease, Type 4B2
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:604563
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Skeletal muscle atrophy, Cerebral visual impairment, Ragged-red muscle fibers... OMIM:616239
Cone-Rod Dystrophy 22
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bull's eye maculopathy,... OMIM:619531
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal pyramidal sign, Spastic dysarthria, Head tremor, Ataxia, Upper limb spasticity, Truncal ... ORPHA:320391
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle... ORPHA:370980
Infantile Neuronal Ceroid Lipofuscinosis
Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Dysmetria, Abnormal amplitude of ... ORPHA:79263
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebellar atrophy, Waddling gait, Peripheral axonal neuropathy, Delayed CNS myelination, Babinsk... OMIM:619090
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Blindness, Corpus callosum atrophy, Abnormal pons morphology, Lateral v... ORPHA:77299
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Blindness, Lower limb s... ORPHA:206436
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy, Ataxia, Sensorineural hearing impairment, Axonal loss, Difficulty walkin... OMIM:616684
Spinocerebellar Ataxia 2
Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Distal amyotrophy, Myoclonus, Fasc... OMIM:183090
Blue Cone Monochromatism
Blue cone monochromacy, Abnormality of retinal pigmentation, Abnormal electroretinogram, Photopho... ORPHA:16
Peroxisomal Acyl-Coa Oxidase Deficiency
Myopia, Sensorineural hearing impairment, Abnormal electroretinogram, Optic atrophy, EEG abnormal... ORPHA:2971
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Retinitis Pigmentosa 4
Blindness, Retinal atrophy, Bone spicule pigmentation of the retina, Nyctalopia, Abnormal electro... OMIM:613731
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Distal lower limb amyotrophy, Decreased number of peripheral myelinated nerve fibers, Somatic sen... OMIM:600882
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:605588
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Ataxia, Retinal dystrophy, Oculom... OMIM:608629
Spinocerebellar Ataxia 31
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Limb ataxia, Gait ataxia OMIM:117210
Machado-Joseph Disease Type 3
Cerebellar atrophy, Skeletal muscle atrophy, Dilated fourth ventricle, Distal lower limb amyotrop... ORPHA:276244
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Decreased mitochondrial number, Limb-girdle muscle weakness, Myopath... ORPHA:352470
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Ventriculomegaly OMIM:613402
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Abn... OMIM:607317
Cone-Rod Dystrophy 12
Cone/cone-rod dystrophy, Bull's eye maculopathy, Central scotoma, Nyctalopia, Reduced visual acui... OMIM:612657
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Lower limb spast... OMIM:604360
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebellar atrophy, Lower limb spasticity, Ataxia, Cerebral atrophy, Hypertonia, Upper limb spast... OMIM:613925
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Spastic Paraplegia 85, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Torticollis, Peripheral axonal neuropathy, Lowe... OMIM:619686
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis ORPHA:111
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Constriction of peripheral visual field, Short stature, Patchy atrophy of the retinal pigment epi... ORPHA:436245
Retinitis Pigmentosa 7
Constriction of peripheral visual field, Nyctalopia, Abnormal electroretinogram, Adult-onset nigh... OMIM:608133
Combined Oxidative Phosphorylation Deficiency 19
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615595
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Pyruvate Dehydrogenase E1-Alpha Deficiency
Blindness, Ventricular septal defect, Ataxia, Inability to walk, Cerebellar gliosis, Flexion cont... ORPHA:79243
Dandy-Walker Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Hy... OMIM:220200
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Distal amyotro... OMIM:607731
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Peripheral axonal neuropathy, Axonal degeneration, Diaphragmatic paralys... OMIM:620011
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Ring scotoma, Const... OMIM:616544
Charcot-Marie-Tooth Disease Type 4A
Hand muscle weakness, Impaired distal proprioception, Quadriceps muscle weakness, Motor conductio... ORPHA:99948
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, EEG... OMIM:600143
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Ataxia, Truncal titubation, Rod-cone dystrophy, Visual l... ORPHA:88628
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Distal ... OMIM:604484
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Myopia, Abnormal pinna morphology, Cerebral visual impairment, Corpus callosum atrophy, Optic atr... ORPHA:480898
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Hypoplasia of the pons, EEG with burst suppression, Elbow flexion contracture... OMIM:619303
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration, Distal sensory impairment, Upper limb muscle weakness, Steppage gait, Gait d... OMIM:616155
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... OMIM:615268
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Upper limb mus... OMIM:607677
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... OMIM:601382
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Ankle flexion contracture, Decreased nerve conduction ... OMIM:611228
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Ataxia, Tremo... OMIM:618387
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Frequent falls, Hemiballismus ORPHA:494526
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Claw hand deformity, Par... OMIM:605285
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity, Distal sensory... ORPHA:99944
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Abnormal circulating enzyme concentration or activi... ORPHA:572798
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, S... OMIM:258450
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Peripheral axonal neuropathy, Facial palsy, Ankle flexion co... OMIM:617519
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:615490
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spastic paraplegia, Babinski sign, Impaired vibration sensation in the lower limbs, A... ORPHA:171622
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Partial agenesis of the corpus ca... OMIM:615771
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Increased circulating lactate dehydrogenase concentration, Elevated circulating... OMIM:613154
Usher Syndrome, Type 1M
Drusen, Optic disc pallor OMIM:618632
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Leber Congenital Amaurosis 14
Optic disc pallor, Retinal dystrophy, Nyctalopia, Reduced visual acuity, Photophobia, Decreased l... OMIM:613341
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Myopia, Cerebellar vermis hypoplasia, Retinal atr... OMIM:615960
Spastic Paraplegia 79B, Autosomal Recessive
Flexion contracture, Impaired proprioception, Opto-chiasmatic atrophy, Dysmetria, Hoffmann sign, ... OMIM:615491
Spinocerebellar Ataxia 23
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... OMIM:610245
Pelizaeus-Merzbacher Disease
Ataxia, Optic atrophy, Choreoathetosis, Gait disturbance, Abnormality of visual evoked potentials... ORPHA:702
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Optic atrophy OMIM:614296
Neuropathy, Congenital Hypomyelinating, 2
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Decreased motor ... OMIM:618184
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Peroneal muscle atrophy, Impaired vibration sensation ... OMIM:270550
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Steppage gait, Onion bulb formation, Foot dorsiflexor weakness, Distal sensory impairment OMIM:616039
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongu... ORPHA:466768
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Undetectable light- and dark-adapted electroretinogram, Reduced visual a... OMIM:608194
De Sanctis-Cacchione Syndrome
Ataxia, Bilateral cryptorchidism, Sensorineural hearing impairment, Axonal degeneration, Optic at... OMIM:278800
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Cryptorchidism, Myopathy, Lateral ventricle dilatation, Increased vari... OMIM:616816
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Adams-Oliver Syndrome 2
Hydrocephalus, Optic atrophy, Cerebral atrophy, Protruding ear, Retrocerebellar cyst, Lateral ven... OMIM:614219
Spinocerebellar Ataxia 13
Cerebellar atrophy, Impaired distal vibration sensation, Optic atrophy, Abnormal pyramidal sign, ... OMIM:605259
Spinocerebellar Ataxia 18
Cerebellar atrophy, Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis... OMIM:607458
Developmental And Epileptic Encephalopathy 76
Cerebellar atrophy, Lower limb spasticity, Delayed CNS myelination, Inability to walk, Multifocal... OMIM:618468
Spastic Paraplegia 7, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Waddling gait, Lower limb spasticity, Degeneration of the lat... OMIM:607259
Spinocerebellar Ataxia 25
Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Ataxia, Impaired pain... OMIM:608703
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... ORPHA:1170
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Lower limb muscl... OMIM:610357
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... OMIM:256731
Bietti Crystalline Dystrophy
Blindness, Constriction of peripheral visual field, Large central visual field defect, Retinal pi... ORPHA:41751
Mitochondrial Complex I Deficiency, Nuclear Type 26
Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Choreoathetosis, EEG abnormality, Dista... OMIM:618247
Retinitis Pigmentosa 1
Myopia, Optic disc pallor, Constriction of peripheral visual field, Bone spicule pigmentation of ... OMIM:180100
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Myopia, Retinal detachment, Optic disc pallor, Central scotoma, Reduced ... OMIM:300476
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Progressive Myoclonic Epilepsy With Dystonia
Diffuse cerebral atrophy, Delayed CNS myelination, EEG with irregular generalized spike and wave ... ORPHA:352596
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Leber Congenital Amaurosis 5
Visual loss, Hypermetropia, High hypermetropia, Visual impairment, Undetectable electroretinogram OMIM:604537
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Skeletal muscle atrophy, Optic disc pallor, Blindness, Ataxia, Optic neuropat... OMIM:252010
Congenital Stationary Night Blindness
Myopia, Abnormality of retinal pigmentation, Retinal thinning, Nyctalopia, Reduced visual acuity,... ORPHA:215
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Dysesthesia, Unsteady gait, Gait ataxia, Acute demyelinating polyneuropathy, Distal lower limb mu... ORPHA:98916
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Distal sensory impairment OMIM:615048
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Retinopathy, Gliosis OMIM:615119
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Skeletal muscle atrophy, Absent brainstem auditory responses, Hand muscle we... ORPHA:101085
Peho Syndrome
Cerebellar atrophy, Optic atrophy, Hypsarrhythmia, Undetectable visual evoked potentials, Myoclon... OMIM:260565
Autosomal Recessive Spastic Paraplegia Type 11
Peripheral axonal neuropathy, Orthostatic hypotension, Ataxia, Parkinsonism, Atrophy of the spina... ORPHA:2822
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Reduced visual acuity, Gait at... ORPHA:309256
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Distal sensory impairment, Upper limb muscle we... OMIM:607791
Cog5-Cdg
Cerebellar atrophy, Elevated hepatic transaminase, Diffuse cerebral atrophy, Posteriorly rotated ... ORPHA:263487
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Ceroid Lipofuscinosis, Neuronal, 3
Blindness, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescen... OMIM:204200
Bothnia Retinal Dystrophy
Macular degeneration, Nyctalopia, Abnormal electroretinogram, Retinal dystrophy OMIM:607475
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Visual loss, Optic atrophy, Difficulty ... OMIM:619425
Primary Non-Essential Cutis Verticis Gyrata
Abnormality of pattern visual evoked potentials, Reduced visual acuity ORPHA:357225
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme... ORPHA:251347
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Giant somatosensor... OMIM:618876
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... OMIM:615362
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... OMIM:616170
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Cerebral visual impairment, Visual loss, Limb ataxia, Unde... OMIM:619051
Machado-Joseph Disease Type 1
Cerebellar atrophy, Skeletal muscle atrophy, Dilated fourth ventricle, Distal lower limb amyotrop... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Skeletal muscle atrophy, Dilated fourth ventricle, Distal lower limb amyotrop... ORPHA:276241
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Periphe... OMIM:605253
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy, Broad-based gait OMIM:605388
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Truncal ataxia, Limb ataxia, Difficulty walking, Brain atrophy, Cerebellar vermis atrophy ORPHA:363432
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Myopia, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, EEG... OMIM:617810
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Hypoplasia of the semicircular canal, Myopia, Ataxia, Cerebr... OMIM:609136
Multiple Mitochondrial Dysfunctions Syndrome 6
Cerebellar atrophy, Ataxia, Visual loss, Inability to walk, Optic atrophy, Dysmetria, Atrophy/Deg... OMIM:617954
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Transient unilateral blurring of vision, Hemiplegia OMIM:141500
Micro Syndrome
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cerebellar vermis hypopla... ORPHA:2510
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Progressive truncal ataxia, Optic disc pallor, Broad-based gait, Multiple joint contractures, Bab... ORPHA:363429
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Blindness, Metamorphopsia, Constriction of peripheral visual field, Reti... OMIM:120970
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Delayed CNS myelination, Ataxia, Macular coloboma, Abnorma... OMIM:619260
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio OMIM:617272
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Slc35A2-Cdg
Cerebellar atrophy, Elevated hepatic transaminase, Limb joint contracture, Camptodactyly of finge... ORPHA:356961
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Spastic tetraparesis, Decreased nerve conduction velocity, Babinski sign, Gait ataxia, Loss of am... OMIM:249900
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, Truncal ataxia, ... ORPHA:314978
Ceroid Lipofuscinosis, Neuronal, 1
Blindness, Ataxia, Increased neuronal autofluorescent lipopigment, Flexion contracture, Optic atr... OMIM:256730
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Retinitis Pigmentosa 69
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Pigmentary retinopath... OMIM:615780
Pontocerebellar Hypoplasia, Type 6
Cerebellar atrophy, Appendicular spasticity, Lower limb spasticity, Cerebellar vermis hypoplasia,... OMIM:611523
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... OMIM:604326
Retinitis Pigmentosa 93
Constriction of peripheral visual field, Reduced visual acuity, Retinal dots, Rod-cone dystrophy,... OMIM:619845
Neuromyelitis Optica Spectrum Disorder
Somatic sensory dysfunction, Visual loss, Paraplegia, Optic neuritis, Neuronal loss in central ne... ORPHA:71211
Hemimegalencephaly
Optic atrophy, Gliosis, Abnormal neuron morphology ORPHA:99802
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Lateral ventricle dilatation, Cerebral cortical ... ORPHA:306669
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Limb ataxia... OMIM:616291
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Hy... OMIM:220220
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... ORPHA:251282
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal at... ORPHA:363710
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Optic disc pallor, Incoordination, Ataxia, Flexion contracture, Babinski sign... OMIM:616204
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape OMIM:610773
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Axonal loss, Gliosis OMIM:300857
Martsolf Syndrome 2
Camptodactyly of finger, Spastic diplegia, Lateral ventricle dilatation, Brain atrophy, Camptodac... OMIM:619420
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
EEG with polyspike wave complexes, Cerebellar vermis hypoplasia, Limb joint contracture, Ankle fl... ORPHA:284417
Leber Congenital Amaurosis 9
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:608553
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Posteriorly rotate... ORPHA:163961
Pontocerebellar Hypoplasia, Type 12
Cerebral atrophy, Joint contracture, Cerebellar hypoplasia, Lateral ventricle dilatation OMIM:618266
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Elevated circulating creatinine concentration, Left ventricular hypertrophy,... OMIM:616733
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Decreased mitochondrial number, Diplopia, Dilated cardiomyopathy, Ragged-red ... ORPHA:352447
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Folinic Acid-Responsive Seizures
Cerebellar atrophy, Myopia, Broad-based gait, Ataxia, Spastic tetraparesis, Chorea, Delayed myeli... ORPHA:79097
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... OMIM:602433
Leukodystrophy, Hypomyelinating, 15
Cerebellar atrophy, Ataxia, Amblyopia, Visual loss, Sensorineural hearing impairment, Optic atrop... OMIM:617951
Developmental And Epileptic Encephalopathy 3
EEG with burst suppression, Delayed myelination, Cerebral atrophy, Brain atrophy, Abnormality of ... OMIM:609304
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Leukodystrophy, Hypomyelinating, 18
Cerebellar atrophy, Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity... OMIM:618404
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Reduced visual acuity, Clumsin... ORPHA:309263
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Broad-based gait, Hand tremor, Gait ataxia, Atrophy/Degeneration affecting th... OMIM:617862
Pontocerebellar Hypoplasia, Type 2D
Cerebellar atrophy, Appendicular spasticity, Limb joint contracture, Clonus, Chorea, Delayed myel... OMIM:613811
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Spinocerebellar Ataxia 45
Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617769
X-Linked Progressive Cerebellar Ataxia
Distal lower limb amyotrophy, Unsteady gait, Cerebellar vermis atrophy, Babinski sign, Dysmetria,... ORPHA:1175
Adult Neuronal Ceroid Lipofuscinosis