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Gene: Opa1 MGI:1921393

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Gene Summary

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

Order Alleles

IMPC Data Collections

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
preweaning lethality, complete penetrance Opa1em1(IMPC)Bay HOM   Early adult 0.00

Download data as:  TSV  XLS

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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.

Phenotype associated images not available

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
Reduced visual acuity, Central scotoma, Centrocecal scotoma, Tritanomaly, Visual impairment, Red-... OMIM:165500
Autosomal Dominant Optic Atrophy Plus Syndrome
Spastic paraplegia, Abnormal retinal nerve fiber layer morphology, Temporal optic disc pallor, At... ORPHA:1215
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Reduced visual acuity, Increased variability in mus... OMIM:125250
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Achilles tendon contracture, Cerebellar atrophy, Adductor longu... OMIM:210000
Autosomal Dominant Optic Atrophy, Classic Form
Abnormal periventricular white matter morphology, Central scotoma, Color vision defect, Sensorine... 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
Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy, Optic disc pallor OMIM:613582
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Autosomal Recessive Spastic Paraplegia Type 74
Cerebral white matter atrophy, Difficulty walking, Hypoplasia of the corpus callosum, Decreased a... ORPHA:468661
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Central scotoma, Hypertonia, Cerebral white matter hypoplasia, Abnormal mitochondrial shape, Visu... ORPHA:543470
Spastic Paraplegia Type 7
Attention deficit hyperactivity disorder, Abnormal cerebral white matter morphology, Abnormal pyr... ORPHA:99013
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Stargardt Disease
Nyctalopia, Reduced visual acuity, Central scotoma, Retinal pigment epithelial mottling, Retinal ... ORPHA:827
Intellectual Developmental Disorder And Retinitis Pigmentosa
Reduced visual acuity, Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular de... OMIM:618195
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Optic disc pallor, Macular dystrophy OMIM:616170
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Hypsarrhythmia, Abnormal basal ganglia MRI signal intensity, Abnormal thalamic MRI signal intensi... ORPHA:485421
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Ataxia, Sensory axonal neuropathy, Torticollis, Dilated fourth ventricle, Cerebellar vermis atrop... OMIM:619054
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
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
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Hand muscle weakness, Toe walking, Decreased number of peripheral myelinated nerve fibers, Distal... OMIM:302800
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Reduced visual acuity, Abnormal electroretinogram, Subretinal fluid... OMIM:153700
Tritanopia
Color vision defect, Tritanomaly, Dyschromatopsia, Abnormal light-adapted electroretinogram OMIM:190900
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Macular atrophy, Optic atrophy, Cranial nerve compression OMIM:250450
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Occult Macular Dystrophy
Slow decrease in visual acuity, Abnormal multifocal electroretinogram, Macular dystrophy OMIM:613587
Friedreich Ataxia
Decreased amplitude of sensory action potentials, Decreased sensory nerve conduction velocity, Im... OMIM:229300
Hsd10 Mitochondrial Disease
Visual loss, Retinal degeneration, Cerebral cortical atrophy, Sensorineural hearing impairment, S... OMIM:300438
Optic Atrophy 1
Reduced visual acuity, Central scotoma, Centrocecal scotoma, Tritanomaly, Visual impairment, Red-... OMIM:165500
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Visual loss, Subcortical dementia, Recurrent subcortical infarcts, Nonarteritic anterior ischemic... OMIM:125310
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Interosseus muscle atrophy, Sensory ataxia, Spastic paraparesis, Impaired vibratory sensation, De... OMIM:500013
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Optic Atrophy 8
Visual loss, Prolonged somatosensory evoked potentials, Central scotoma, Abnormality of pattern v... OMIM:616648
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Tremor, Bilateral sensorineural hearing impairment, Lower limb musc... ORPHA:397744
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Decreased phosphoribosylpyrophosphate synthetase level, Rod-cone dystrophy, Gait disturbance, Oni... OMIM:311070
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Mohr-Tranebjaerg Syndrome
Dystonia, Visual loss, Global brain atrophy, Central scotoma, Color vision defect, Sensorineural ... ORPHA:52368
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... OMIM:607921
Glaucoma-Related Pigment Dispersion Syndrome
Optic atrophy OMIM:600510
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Action tremor, Ataxia, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Late-Infantile/Juvenile Krabbe Disease
Visual loss, Prolonged brainstem auditory evoked potentials, Clumsiness, Spastic diplegia, Progre... ORPHA:206443
Autosomal Dominant Optic Atrophy Plus Syndrome
Spastic paraplegia, Abnormal retinal nerve fiber layer morphology, Temporal optic disc pallor, At... ORPHA:1215
Frontotemporal Dementia With Motor Neuron Disease
Degeneration of the lateral corticospinal tracts, Apraxia, Abnormality of extrapyramidal motor fu... ORPHA:275872
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Congenital stationary night blindness OMIM:616389
Canavan Disease
Abnormality of retinal pigmentation, Blindness, Visual impairment, Cognitive impairment, Optic at... ORPHA:141
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Spasticity, Childhood-Onset, With Hyperglycinemia
Leukodystrophy, Spastic ataxia, Hypoplasia of the corpus callosum, Gait disturbance, Abnormal pyr... OMIM:616859
Infantile Neuroaxonal Dystrophy
Dystonia, Hyperactivity, Abnormality of peripheral nerve conduction, Spasticity, Diffuse axonal s... ORPHA:35069
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Cln5 Disease
Clumsiness, Cerebral cortical atrophy, Visual impairment, Periventricular white matter hyperdensi... ORPHA:228360
Retinitis Pigmentosa 38
Macular atrophy, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:613862
Adult Krabbe Disease
Visual loss, Hoffmann sign, Clumsiness, Prolonged brainstem auditory evoked potentials, Lower lim... ORPHA:206448
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Cerebral atro... OMIM:615157
Lipedema
Edema OMIM:614103
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ventriculomegaly, Aminoaciduria, Ataxia, Abnormal electroretinogram, Sensorineural hearing impair... ORPHA:1933
Neurodegeneration With Brain Iron Accumulation 2A
Visual loss, Abnormal pyramidal sign, Cerebral atrophy, Neurodegeneration, Ataxia, Unsteady gait,... OMIM:256600
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor, Peripheral retinal degeneration OMIM:609021
Dystonia-Aphonia Syndrome
Macroglossia, Gait disturbance, Cerebral atrophy, Unsteady gait, Cerebellar atrophy, Abnormal mit... ORPHA:412217
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Spasticity ORPHA:217012
Nescav Syndrome
Inability to walk, Flexion contracture, Cerebral atrophy, Cerebellar atrophy, Peripheral axonal n... OMIM:614255
Krabbe Disease
Decreased nerve conduction velocity, Hypertonia, Neurodegeneration, Blindness, Hearing impairment... OMIM:245200
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Camptodactyly of finger, Gait ataxia, Slurred speech, Flexion contracture of toe, Ventriculomegal... OMIM:619323
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Gait disturbance, Onion bulb formation, Hearing impairment, Distal amyotrophy, Abnor... OMIM:601455
Spinocerebellar Ataxia Type 43
Cogwheel rigidity, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Unsteady gait, Distal... ORPHA:497764
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Spinocerebellar Ataxia Type 1
Dystonia, Abnormal nerve conduction velocity, Skeletal muscle atrophy, Impaired proprioception, A... ORPHA:98755
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Visual field defect, Abnormal electroretinogram, Visual imp... OMIM:613809
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spinal muscular atrophy, Spastic ataxia, Hypoplasia of the corpus callosum, Spastic tetraparesis,... ORPHA:496756
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Positive Romberg sign, Decreased motor nerve conduction velocity, Vocal cord paresis, Central sco... OMIM:601152
Usher Syndrome, Type I
Visual loss, Rod-cone dystrophy, Undetectable electroretinogram OMIM:276900
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Late Infantile Neuronal Ceroid Lipofuscinosis
Visual loss, Periventricular white matter hyperdensities, Hyperactivity, Spasticity, Cortical myo... ORPHA:168491
Combined Oxidative Phosphorylation Defect Type 27
Diffuse cerebellar atrophy, Decreased activity of mitochondrial complex III, Hypoplasia of the co... ORPHA:477774
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Reduced visual acuity, Increased variability in mus... OMIM:125250
Ceroid Lipofuscinosis, Neuronal, 9
Decreased light- and dark-adapted electroretinogram amplitude, Psychomotor deterioration, Cerebra... OMIM:609055
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Flexion contracture, Ataxia, Babinski sign, Spasticity OMIM:611105
Combined Oxidative Phosphorylation Deficiency 29
Dystonia, Delayed CNS myelination, Decreased activity of mitochondrial complex III, Global brain ... OMIM:616811
Cerebrotendinous Xanthomatosis
Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus, Global brain atrophy, ... ORPHA:909
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Parkinsonism with favorable response to dopaminergic medication, Optic neur... ORPHA:254886
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Progressive sensorineural hearing impairment, Positive Romberg sign, Gait ataxia, Distal amyotrop... OMIM:258650
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor OMIM:617087
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal sensory impairment, Rigidity OMIM:617018
Combined Oxidative Phosphorylation Defect Type 29
Delayed myelination, Diffuse cerebellar atrophy, Decreased activity of mitochondrial complex III,... ORPHA:478029
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Tremor, Decreased sensory nerve conduction velocity, H... OMIM:609260
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Liberfarb Syndrome
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:618889
X-Linked Retinoschisis
Abnormality of vision, Retinoschisis, Abnormal electroretinogram ORPHA:792
Glutathionuria
Tremor OMIM:231950
Ceroid Lipofuscinosis, Neuronal, 7
Visual loss, Pigmentary retinopathy, Neurodegeneration, Cerebral atrophy, Ataxia, Blindness, Cere... OMIM:610951
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Axonal loss, Abnormal pyramidal s... OMIM:617672
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Visual loss, Truncal ataxia, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar atro... OMIM:611726
Chronic Inflammatory Demyelinating Polyneuropathy
Sensory ataxia, Hand muscle weakness, Paresthesia, Peripheral demyelination, Spontaneous pain sen... ORPHA:2932
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Toe walking, Distal amyotrophy, Axonal degeneration/re... OMIM:614436
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Visual field defect, Retinal pigment epithelial atrophy, Ab... OMIM:609923
Ceroid Lipofuscinosis, Neuronal, 11
Ataxia, Retinal dystrophy, Cerebellar atrophy, EEG abnormality, Visual impairment, Optic atrophy OMIM:614706
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Retinal Cone Dystrophy 1
Retinal degeneration, Abnormal electroretinogram, Cone/cone-rod dystrophy, Color vision defect, P... OMIM:180020
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Proximal muscle weakness in lower limbs, Proximal musc... ORPHA:457050
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:165300
Spastic Paraplegia 55, Autosomal Recessive
Spastic paraplegia, Steppage gait, Difficulty walking, Hypoplasia of the corpus callosum, Central... OMIM:615035
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Abnormal electroretinogram, Visual impairment, Cognitive imp... ORPHA:2246
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Impaired pain sensation, Impaired vibratory sensation,... ORPHA:99953
Dystonia 3, Torsion, X-Linked
Chorea, Tremor, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Cach Syndrome
T2 hypointense thalamus, Arthrogryposis multiplex congenita, Truncal ataxia, Limb ataxia, Flexion... ORPHA:135
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Null Syndrome
Inability to walk, Peripheral demyelination, Difficulty walking, Progressive spastic quadriplegia... ORPHA:280234
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Congenital Muscular Dystrophy With Cerebellar Involvement
Type II lissencephaly, Congenital muscular dystrophy, Hydrocephalus, Cardiomyopathy, Hypoplasia o... ORPHA:370959
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Dystonia, Decreased activity of mitochondrial complex III, Hypertonia, Sensorineural hearing impa... ORPHA:17
Retinitis Pigmentosa 62
Rod-cone dystrophy, Optic disc pallor OMIM:614181
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Vocal cord paresis, Sensory ataxia, Basal lamina onion... OMIM:614895
Spastic Paraplegia 32, Autosomal Recessive
Spastic paraplegia, Difficulty walking, Hypoplasia of the corpus callosum, Cerebral atrophy, Lowe... OMIM:611252
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Leg muscle stiffness, Diffuse cerebellar atrophy, Ataxia, Somatic... ORPHA:101010
Spinocerebellar Ataxia 1
Abnormality of extrapyramidal motor function, Skeletal muscle atrophy, Impaired proprioception, S... OMIM:164400
Spinocerebellar Ataxia 25
Reduced visual acuity, Facial myokymia, Abolished vibration sense, Ataxia, Decreased number of pe... OMIM:608703
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... OMIM:607734
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Ataxia, Retinal degeneration, Cerebellar atrophy, Babinski sign, Microc... OMIM:614322
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Spinal muscular atrophy, Hypoplasia of the corpus callosum, Ataxia, Cerebellar atrophy, Distal am... OMIM:617207
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Inability to walk, T2 hypointense thalamus, Gait ataxia, Clumsiness, Cerebral atrophy, Ataxia, Ab... ORPHA:1947
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Onion... OMIM:606482
Angioedema, Hereditary, 6
Angioedema, Edema of the dorsum of hands, Facial edema OMIM:619363
Severe X-Linked Intellectual Disability, Gustavson Type
Profound hearing impairment, Macrotia, Ventricular septal defect, Hypertonia, Cerebellar hypoplas... ORPHA:3078
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Posterior Column Ataxia With Retinitis Pigmentosa
Sensory ataxia, Camptodactyly, Skeletal muscle atrophy, Impaired proprioception, Bone spicule pig... OMIM:609033
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Dystonia, Tremor, Difficulty walking, Abnormality of the mitochondrion, Oculog... ORPHA:330050
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Abnormal motor evoked potentials, Ataxia, Somatic sensory dysfunction, Lower ... ORPHA:320401
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Retinoschisis Of Fovea
Visual loss, Nyctalopia, Foveoschisis, Mildly reduced visual acuity, Abnormal electroretinogram, ... OMIM:268080
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Abnormal cerebral white matter morphology, Proximal ... OMIM:618138
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... OMIM:214400
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy OMIM:614296
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Cerebellar atrophy, Skeletal muscle ... OMIM:613402
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Dystonia, Corpus callosum atrophy, Hypoplasia of the corpus callosum, Cerebral atrophy, Myopia, B... OMIM:616875
Choroideremia
Nyctalopia, Abnormality of retinal pigmentation, Abnormality of vision, Myopia, Abnormal electror... ORPHA:180
Combined Oxidative Phosphorylation Defect Type 39
Hypsarrhythmia, Toe walking, Deep white matter hypodensities, Corpus callosum atrophy, Hypoplasia... ORPHA:565624
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
Nanophthalmos 4
Optic disc drusen OMIM:615972
Spinocerebellar Ataxia Type 25
Gait ataxia, Diffuse cerebellar atrophy, Reduced visual acuity, Facial myokymia, Progressive cere... ORPHA:101111
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Basal ganglia gliosis, Hypsarrhythmia, EEG with focal spikes, Cerebellar cyst, Hypoplas... ORPHA:79243
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Gait ataxia, Action tremor, Decreased number of periph... OMIM:180800
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Achilles tendon contracture, Cerebellar atrophy, Adductor longu... OMIM:210000
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Polymicrogyria Due To Tubb2B Mutation
Oromotor apraxia, Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hemia... ORPHA:300573
Optic Atrophy 6
Optic atrophy OMIM:258500
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Myopia, Abnormal electroretinogram, Visual impairment, Optic... ORPHA:1574
Retinitis Pigmentosa 19
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Retinal pigment epitheli... OMIM:601718
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Dystonia, Tremor, Abnormality of retinal pigmentation, Nyctalopia, Hypertonia... ORPHA:96
Oculocutaneous Albinism Type 1
Reduced visual acuity, Abnormal morphology of the choroidal vasculature, Amblyopia, Depigmented f... ORPHA:352731
Bothnia Retinal Dystrophy
Central scotoma, Visual field defect, Retinal pigment epithelial mottling, Color vision defect, P... ORPHA:85128
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Diplopia, Clumsiness, Hypertonia, Poor fine motor coordination, Progressive inability to walk, Up... ORPHA:137898
Congenital Muscular Dystrophy Without Intellectual Disability
EMG: myopathic abnormalities, Pachygyria, Proximal amyotrophy, Difficulty walking, Congenital mus... ORPHA:370980
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Choreoathetosis, Truncal ataxia, Tremor, Gait ataxia, Limb ataxia, Oculomotor apraxia, ... OMIM:208920
Leber Hereditary Optic Neuropathy
Postural tremor, Central scotoma, Ataxia, Blurred vision, Slow decrease in visual acuity, Centroc... ORPHA:104
Progressive Cone Dystrophy
Abnormality of retinal pigmentation, Abnormal electroretinogram, Color vision defect, Visual impa... ORPHA:1871
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Abnormal sperm morphology, Cerebral cortical atrophy, Corpus call... ORPHA:320391
Charcot-Marie-Tooth Disease, Type 4H
Small thenar eminence, Small hypothenar eminence, Decreased motor nerve conduction velocity, Peri... OMIM:609311
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Abnormal motor evoked potentials, Mitral valve prolapse, Spasticity, Impaired vibratory sensation... ORPHA:98
Machado-Joseph Disease
Dystonia, Diplopia, Truncal ataxia, Impaired vibratory sensation, Abnormality of extrapyramidal m... OMIM:109150
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Diffuse white matter abnormalities, Ventriculomegaly, Hypertonia, Cerebral atrophy, Megalencephal... OMIM:613925
Spinocerebellar Ataxia Type 38
Somatic sensory dysfunction, Tremor, Gait ataxia ORPHA:423296
Retinitis Pigmentosa 26
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor OMIM:608380
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Visual loss, Clumsiness, Interictal EEG abnormality, Poor fine motor coordination, Cere... ORPHA:79263
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... OMIM:614561
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Amblyopia, Microcephaly, Abnormality of visual evoked potentials, Optic disc pallor OMIM:617523
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cerebral visual impairment, Abnormality of visual evoked potentials, Short stature ORPHA:1389
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:118210
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Xq12-Q13.3 Duplication Syndrome
Cleft earlobe, Hypsarrhythmia, Hypoplasia of the corpus callosum, Ventriculomegaly, Low alkaline ... ORPHA:314389
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Lower limb muscle weakness, Demyelinating peri... ORPHA:313772
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Primary Non-Essential Cutis Verticis Gyrata
Microcephaly, Periventricular leukomalacia, Abnormality of pattern visual evoked potentials, Redu... ORPHA:357225
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal thinning, Hyperautofluore... OMIM:617123
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Autosomal Spastic Paraplegia Type 58
Torticollis, Spasticity, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Clon... ORPHA:397946
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Delayed CNS myelination, Pigmentary retinopathy, Cerebral atrophy, Cerebellar atrophy, Hearing im... OMIM:619090
Sorsby Fundus Dystrophy
Blindness, Macular dystrophy, Abnormal electroretinogram OMIM:136900
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Chorea, Peripheral hypomyelination, Cerebral atrophy, ... OMIM:604168
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Type 1 muscle fiber atrophy, Abnormal cerebral white matter morphology, Demyelinating peripheral ... OMIM:617519
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait ataxia, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Severe demyelination of th... ORPHA:488635
Wars2-Related Combined Oxidative Phosphorylation Defect
Abnormal periventricular white matter morphology, Cerebral white matter hypoplasia, Amblyopia, Ca... ORPHA:572798
Leukodystrophy, Hypomyelinating, 11
Leukodystrophy, Tremor, Hypoplasia of the corpus callosum, Myopia, Ataxia, Cerebellar atrophy, Sp... OMIM:616494
Developmental And Epileptic Encephalopathy 76
Inability to walk, Delayed CNS myelination, Upper limb spasticity, Hypoplasia of the corpus callo... OMIM:618468
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Onion bulb formation, Dist... OMIM:601098
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Ceroid Lipofuscinosis, Neuronal, 10
Visual loss, Retinal atrophy, Rod-cone dystrophy, Cerebral atrophy, Ataxia, Low-set ears, Sensory... OMIM:610127
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Retinitis Pigmentosa 54
Nyctalopia, Attenuation of retinal blood vessels, Abnormal electroretinogram, Visual impairment, ... OMIM:613428
Spastic Ataxia 9, Autosomal Recessive
Reduced visual acuity, Abnormal pyramidal sign, Ataxia, Distal amyotrophy, Cerebellar vermis atro... OMIM:618438
Retinitis Pigmentosa 88
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618826
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Segmental peripheral demyelination, Onion bulb formation, Distal amyotrophy, Distal sensory impai... OMIM:606483
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Optic neuritis, Peripheral demyelination OMIM:165200
Autosomal Recessive Spastic Paraplegia Type 32
Difficulty walking, Hypoplasia of the corpus callosum, Impaired vibration sensation in the lower ... ORPHA:171622
White-Sutton Syndrome
Rod-cone dystrophy, Hypoplasia of the corpus callosum, Self-injurious behavior, Cerebral atrophy,... OMIM:616364
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Visual loss, Elevated hepatic transaminase, Hypertonia, Paralysis, Ataxia, Cerebellar atrophy, Ab... OMIM:203700
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Hemiballismus ORPHA:494526
Autosomal Spastic Paraplegia Type 72
Impaired vibration sensation at ankles, Postural tremor, Spastic gait, Rigidity ORPHA:401849
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Optic atrophy ORPHA:2732
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Infantile Krabbe Disease
Visual loss, Prolonged brainstem auditory evoked potentials, Abnormal periventricular white matte... ORPHA:206436
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Gait ataxia, Cerebral atrophy, Cerebellar atrophy, Sensorineural hearing impairment, Babinski sig... OMIM:616192
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Diffuse demyelination of the cerebral white matter, Blindness, Cerebella... ORPHA:77299
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Tremor, Neurodegeneration, Ataxia, Cerebellar atrophy, Periventricular leukoma... OMIM:615889
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Progressive sensorineural hearing impairment, Peripheral demyelination, Distal amyotrophy, Sensor... OMIM:607736
Pelizaeus-Merzbacher Disease
Dystonia, Gait disturbance, Ataxia, Cerebral cortical atrophy, Hearing impairment, Visual impairm... ORPHA:702
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Irvan Syndrome
Tractional retinal detachment, Vitreous floaters, Retinal exudate, Retinal detachment, Optic atro... ORPHA:209943
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Diff... OMIM:604563
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Retr... OMIM:614831
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Diffuse cerebellar atrophy, Corpus callosum atrophy, Cerebral atrophy, Myopia, Abnormality of the... ORPHA:480898
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Symmetrical progressive peripheral demyelination, Demyelinating sensory neuropathy, Progressive g... ORPHA:208981
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dystonia, Visual loss, Type II lissencephaly, Spastic diplegia, Congenital fibrosis of extraocula... ORPHA:300570
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Sensory ataxia, Decreased number of peripheral myelina... OMIM:145900
Spinocerebellar Ataxia 38
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Peripheral axonal neuropathy OMIM:615957
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Cerebellar cyst, Oculomotor apraxia, Head titubation, Ataxia, Cerebellar dysplas... ORPHA:370022
Charcot-Marie-Tooth Disease, Type 4K
Dystonia, Difficulty walking, Axonal loss, Ataxia, Hearing impairment, Sensorineural hearing impa... OMIM:616684
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Cerebral cortical atrophy, C... OMIM:617862
Autosomal Recessive Spastic Paraplegia Type 11
Abnormality of extrapyramidal motor function, Lower limb muscle weakness, Cerebral cortical atrop... ORPHA:2822
Progressive Myoclonic Epilepsy With Dystonia
Hemiplegia, Dystonia, Delayed CNS myelination, Diffuse cerebellar atrophy, Abnormality of extrapy... ORPHA:352596
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus OMIM:611092
Machado-Joseph Disease Type 3
Dystonia, Diplopia, Clumsiness, Abnormality of extrapyramidal motor function, Distal lower limb a... ORPHA:276244
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic atrophy, Optic disc pallor OMIM:615722
Slc35A2-Cdg
Cerebral white matter atrophy, Hypsarrhythmia, Elevated circulating thyroid-stimulating hormone c... ORPHA:356961
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Distal amyotrophy, Peripheral axonal neuropathy,... OMIM:618387
Ceroid Lipofuscinosis, Neuronal, 8
Cerebral atrophy, Ataxia, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, EEG... OMIM:600143
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Blue cone monochromacy, Abnormal electroretinogram, Visual i... ORPHA:16
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Onion bulb formation, Distal amyotrophy, Peripheral ax... OMIM:610100
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Developmental And Epileptic Encephalopathy 3
Cerebral atrophy, Progressive microcephaly, Abnormality of visual evoked potentials OMIM:609304
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dystonia, Tetraparesis, Ataxia, Dysplastic corpus callosum, Cerebellar atrophy... OMIM:618276
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebella... OMIM:617751
Dandy-Walker Syndrome
Truncal ataxia, Partial absence of cerebellar vermis, Posterior fossa cyst at the fourth ventricl... OMIM:220200
Peroxisomal Acyl-Coa Oxidase Deficiency
Gait disturbance, Hypertonia, Myopia, Abnormal electroretinogram, Low-set ears, Sensorineural hea... ORPHA:2971
Åland Islands Eye Disease
Reduced visual acuity, Myopia, Difficulty adjusting from light to dark, Abnormal electroretinogra... ORPHA:178333
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Multiple Mitochondrial Dysfunctions Syndrome 6
Dystonia, Visual loss, Ataxia, Cerebellar atrophy, Hearing impairment, Dysmetria, Leukoencephalop... OMIM:617954
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Hand muscle weakness, Spinal muscular atrophy, Diaphragmatic paralysis, Hypertonia, Limb-girdle m... ORPHA:466768
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Proximal amyotrophy, Gait disturbance, Degeneration of anterior horn cells, Decreased number of p... OMIM:604484
Galloway-Mowat Syndrome 5
Pachygyria, Ventriculomegaly, Ataxia, Brain atrophy, Hearing impairment, Peripheral demyelination... OMIM:617731
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Progressive night blindness, Patchy atrophy of the retinal pigment epithelium, Constriction of pe... ORPHA:436245
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Dystonia, Choreoathetosis, Tremor, Ataxia, Cerebellar atrophy, Hearing impairment... OMIM:612438
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Inability to walk, Flexion contracture, Abnormal myelination, Cerebellar atrophy, Cerebral visual... OMIM:618324
Spinocerebellar Ataxia 31
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Sensorineural hearing impairment OMIM:117210
Leukodystrophy, Hypomyelinating, 18
Dystonia, Abnormal periventricular white matter morphology, Abnormal motor nerve conduction veloc... OMIM:618404
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Truncal ataxia, Corpus callosum atrophy, Cerebral atrophy, Cerebellar atrophy OMIM:615268
Dna2-Related Mitochondrial Dna Deletion Syndrome
Difficulty walking, Gait disturbance, Multiple joint contractures, Myopathy, Limb-girdle muscle w... ORPHA:352470
Spastic Paraplegia 11, Autosomal Recessive
Abnormal periventricular white matter morphology, Lower limb muscle weakness, Decreased number of... OMIM:604360
Mitochondrial Complex I Deficiency, Nuclear Type 15
Dystonia, Flexion contracture, Hearing impairment, Spastic tetraplegia, Peripheral demyelination,... OMIM:618237
Barth Syndrome
Macrotia, Endocardial fibroelastosis, Gait disturbance, Skeletal myopathy, Abnormal mitochondrial... OMIM:302060
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Hypertonia, Cerebral atrophy, Ce... OMIM:618730
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis, Abnormal mitochondrial morphology ORPHA:111
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Apraxia, Hypoplasia of the corpus callosum, Gait disturbance, Axonal loss, Cerebral atrophy, Abno... OMIM:221770
Peho Syndrome
Peripheral dysmyelination, Pachygyria, Hypsarrhythmia, Hypoplasia of the corpus callosum, Cerebel... OMIM:260565
Poretti-Boltshauser Syndrome
Retinal atrophy, Abnormal periventricular white matter morphology, Cerebellar cyst, Cerebellar ve... OMIM:615960
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Peripheral demyelination, Onion bulb formation, Distal amyotrophy, Distal sensory impairment, Dec... OMIM:608340
Cone-Rod Dystrophy 12
Nyctalopia, Reduced visual acuity, Central scotoma, Cone/cone-rod dystrophy, Color vision defect,... OMIM:612657
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Distal amyotrophy, Peripheral axonal neuropathy... OMIM:608673
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Nyctalopia, Chorioretinal atrophy, Blindnes... OMIM:613750
Ceroid Lipofuscinosis, Neuronal, 1
Macular degeneration, Decreased light- and dark-adapted electroretinogram amplitude, Psychomotor ... OMIM:256730
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:605588
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, D... OMIM:607731
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Amyotrophic Lateral Sclerosis 4, Juvenile
Diffuse axonal swelling, Difficulty walking, Abnormal lower motor neuron morphology, Degeneration... OMIM:602433
Metachromatic Leukodystrophy, Late Infantile Form
Leukodystrophy, Dystonia, Gait ataxia, Clumsiness, Bilateral sensorineural hearing impairment, Pu... ORPHA:309256
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal sensory impairm... OMIM:607677
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Pontocerebellar Hypoplasia, Type 1E
EEG with burst suppression, Cerebellar hypoplasia, Cerebellar atrophy, Myoclonus, Knee flexion co... OMIM:619303
Cone-Rod Dystrophy 13
Reduced visual acuity, Cone/cone-rod dystrophy, Color vision defect, Visual impairment, Undetecta... OMIM:608194
Spastic Paraplegia 79, Autosomal Recessive
Spastic paraplegia, Visual loss, Flexion contracture, Tetraparesis, Head titubation, Ataxia, Ankl... OMIM:615491
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Inability to walk, EMG: myopathic abnormalities, Loss of ability to walk in early childhood, Cere... OMIM:609560
Pontocerebellar Hypoplasia, Type 2D
Delayed myelination, Abnormal periventricular white matter morphology, Chorea, Hypoplasia of the ... OMIM:613811
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination, Gait disturbance, Hand muscle atrophy, Skeletal muscle atrophy, Decreas... ORPHA:99944
Retinitis Pigmentosa 7
Nyctalopia, Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, ... OMIM:608133
Leber Congenital Amaurosis 14
Nyctalopia, Decreased light- and dark-adapted electroretinogram amplitude, Reduced visual acuity,... OMIM:613341
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Upp... ORPHA:101110
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Elevated hepatic transaminase, Hypoplasia of the corpus callosum, Jaundice, Abnormal mitochondria... OMIM:618528
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Delayed myelination, Hypoplasia of the corpus callosum, Hypertonia, Spastic tetraparesis, Cerebel... ORPHA:284417
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Axonal loss, Peripheral hypomyelination, Gait disturba... OMIM:611228
Usher Syndrome, Type 1M
Drusen, Optic disc pallor OMIM:618632
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Sensory axonal neuropathy, Cerebellar atroph... OMIM:607458
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Positive Romberg sign, Visual loss, Gait ataxia, Flexion contracture of finger, Nyctalopia, Pigme... ORPHA:88628
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Lower limb muscle weakness, Ataxia, Ankle clonus, Lower limb spasticity, Spas... OMIM:610357
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Combined Oxidative Phosphorylation Deficiency 38
Low-set ears, Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology, ... OMIM:618378
Spastic Paraplegia 75, Autosomal Recessive
Spastic paraparesis, Corpus callosum atrophy, Reduced visual acuity, Hypermetropia, Ventriculomeg... OMIM:616680
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation, Foot dorsiflexor weakness, Distal sensory impairment, Steppage gait OMIM:616039
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Reduced visual acuity, Central scotoma, Myopia, Cone/cone-rod dystrophy, Co... OMIM:300476
Optic Atrophy 9
Optic atrophy OMIM:616289
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Dysmetria, Bab... OMIM:610245
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dilated fourth ventricl... ORPHA:1170
Spastic Paraplegia 35, Autosomal Recessive
Spastic paraplegia, Dystonia, Spastic paraparesis, Abnormal periventricular white matter morpholo... OMIM:612319
Neurodegeneration With Brain Iron Accumulation
Optic atrophy, Retinopathy ORPHA:385
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Impaired vibratory sensation, Limb ataxia, Oculomotor apraxi... OMIM:183090
Spastic Paraplegia 7, Autosomal Recessive
Dysdiadochokinesis, Spastic paraplegia, Degeneration of the lateral corticospinal tracts, Gait at... OMIM:607259
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Gait ataxia, Abnormal periventricular white matter morphology, Decreased nerve conduction velocit... OMIM:249900
Ceroid Lipofuscinosis, Neuronal, 3
Dementia, Psychomotor deterioration, Cerebral atrophy, Blindness, Anxiety, Progressive visual los... OMIM:204200
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Increased intramyocellular lipid droplets, Pigmentary retinopathy, Decreased activity o... OMIM:252011
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Ataxia-Telangiectasia-Like Disorder
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Cerebellar vermis hypoplasia, Oculomotor aprax... ORPHA:251347
Machado-Joseph Disease Type 1
Dystonia, Diplopia, Clumsiness, Vestibular dysfunction, Abnormality of extrapyramidal motor funct... ORPHA:276238
Machado-Joseph Disease Type 2
Dystonia, Diplopia, Clumsiness, Vestibular dysfunction, Abnormality of extrapyramidal motor funct... ORPHA:276241
Leukodystrophy, Hypomyelinating, 14
Dystonia, Cerebral atrophy, Blindness, Cerebellar atrophy, Hearing impairment, Microcephaly, Spas... OMIM:617899
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Rod-cone dystrophy, Drusen, Optic disc pallor OMIM:616394
Congenital Hydrocephalus
Hydrocephalus, Abnormal heart morphology, Ventriculomegaly, Small cerebral cortex, Posteriorly ro... ORPHA:2185
Childhood-Onset Spasticity With Hyperglycinemia
Leukodystrophy, Decreased activity of the pyruvate dehydrogenase complex, Hypertonia, Spastic dip... ORPHA:401866
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Gait disturbance, Distal sensory impairment, Steppage gait, Axonal degeneration, Foot dorsiflexor... OMIM:616155
Isolated Oxycephaly
Papilledema ORPHA:63440
Metachromatic Leukodystrophy, Juvenile Form
Leukodystrophy, Dystonia, Clumsiness, Bilateral sensorineural hearing impairment, Punctate perive... ORPHA:309263
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Apraxia, Gait ataxia, Cerebellar hypoplasia, Myopia, Cerebellar atroph... OMIM:617810
Leber Congenital Amaurosis 4
Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Attenuation of retinal blood vessels OMIM:604393
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Spastic gait, Lower limb spa... ORPHA:251282
Spastic Ataxia, Charlevoix-Saguenay Type
Spastic gait, Falls, Cerebellar vermis atrophy, Distal sensory impairment, Upper motor neuron dys... OMIM:270550
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Dysdiadochokinesis, Progressive truncal ataxia, Diffuse cerebellar atrophy, Spastic dysarthria, P... ORPHA:363429
Hsd10 Disease, Infantile Type
Dystonia, Visual loss, Spastic diplegia, Cardiomegaly, Poor coordination, Frontotemporal cerebral... ORPHA:391428
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Cerebral atrophy, Cerebellar atrophy, Visual impairment, Simplified gyral patter... OMIM:616171
Retinitis Pigmentosa 4
Nyctalopia, Pigmentary retinopathy, Visual field defect, Abnormal electroretinogram, Blindness, R... OMIM:613731
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma, Stillbirth OMIM:257350
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Nyctalopia, Congenital stationary night blindness with norma... ORPHA:215
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Inability to walk, Hypsarrhythmia, Cerebellar atrophy, Visual impairment, Microcephaly, Optic atr... OMIM:617086
Micro Syndrome
Abnormality of retinal pigmentation, Pachygyria, Aplasia/Hypoplasia of the corpus callosum, Retin... ORPHA:2510
Peroxisome Biogenesis Disorder 8B
Leukodystrophy, Spastic paraparesis, Corpus callosum atrophy, Ataxia, Retinal dystrophy, Sensorin... OMIM:614877
Ribose 5-Phosphate Isomerase Deficiency
Optic atrophy OMIM:608611
Leber Congenital Amaurosis 5
Visual loss, Undetectable electroretinogram, Visual impairment, Hypermetropia, High hypermetropia OMIM:604537
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Ataxia, Cerebellar atrophy, Giant somatosensory evoked potentials, ... OMIM:618876
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Distal amyotrophy, Distal sensory impairment, Axonal degeneration/regeneration, Segmental periphe... OMIM:607791
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Papilledema OMIM:124950
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Clumsiness, Ataxia, Retinal degeneration, Cerebellar atrophy, Increased neuro... OMIM:256731
Dandy-Walker Malformation With Postaxial Polydactyly
Truncal ataxia, Partial absence of cerebellar vermis, Posterior fossa cyst at the fourth ventricl... OMIM:220220
Leber Congenital Amaurosis 9
Attenuation of retinal blood vessels, Optic atrophy, Optic disc pallor, Macular coloboma OMIM:608553
Charcot-Marie-Tooth Disease Type 1F
Hand muscle weakness, Hand muscle atrophy, Distal lower limb amyotrophy, Sensorineural hearing im... ORPHA:101085
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Irregular myelin loops, Distal amyotroph... OMIM:601382
Peho-Like Syndrome
Pachygyria, Hypsarrhythmia, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar atrop... OMIM:617507
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor, Distal sensory impairment OMIM:615048
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:600882
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Tremor, Difficulty walking, Hemiparesis, Bradykinesia, Brain atrophy, Parkinsonism, Cer... ORPHA:306669
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased amplitude of sensory action potentials, Intrinsic hand muscle atrophy, Gait ataxia, Imp... ORPHA:90103
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Spastic tetraparesis, Brain atrophy, Cerebellar atrophy, Sensorineural hearing impairment, Microc... OMIM:618741
Cog5-Cdg
Camptodactyly of finger, Delayed myelination, Truncal ataxia, Cerebral white matter atrophy, Elev... ORPHA:263487
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Chorioretinal coloboma, Ventriculomegaly, Cerebellar vermis hypoplasia, Posteriorly rotated ears,... ORPHA:163961
Mitochondrial Dna Depletion Syndrome 17
Chorea, Spastic tetraparesis, Hemiballismus, Cerebral atrophy, Decreased activity of mitochondria... OMIM:618567
Mucolipidosis Iv
Dystonia, Photophobia, Decreased light- and dark-adapted electroretinogram amplitude, Retinal deg... OMIM:252650
Gordon Holmes Syndrome
Cerebellar atrophy, Cerebral atrophy, Ataxia, Chorioretinal dystrophy OMIM:212840
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Bothnia Retinal Dystrophy
Nyctalopia, Macular degeneration, Retinal dystrophy, Abnormal electroretinogram OMIM:607475
Cone-Rod Dystrophy 2
Nyctalopia, Metamorphopsia, Reduced visual acuity, Central scotoma, Retinal pigment epithelial at... OMIM:120970
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign OMIM:300660
Lethal Congenital Contracture Syndrome 7
Arthrogryposis multiplex congenita, Hypoplasia of the corpus callosum, Cerebral atrophy, Paralysi... OMIM:616286
Aminoacylase 1 Deficiency
Delayed CNS myelination, Cerebral atrophy, Cerebellar atrophy, Sensorineural hearing impairment, ... OMIM:609924
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Spinocerebellar Ataxia 45
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:617769
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebellar atrophy, Cerebral palsy, Broad-based gait OMIM:605388
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Inability to walk, Dystonia, Delayed myelination, Chorea, Ventriculomegaly, Cerebral atrophy, Ata... OMIM:617804
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Truncal ataxia, Difficulty walking, Limb ataxia, Brain atrophy, Cerebellar vermis atrophy ORPHA:363432
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Abnorm... OMIM:617225
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Cerebellar atrophy, Transient unilateral blurring of vision OMIM:141500
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Clumsiness, Hypoplasia of the corpus callosum, Hypertonia, Slurred speech, Tetraparesis, Toe walk... ORPHA:2386
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Tetraparesis, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Visual impai... OMIM:619260
Metachromatic Leukodystrophy, Adult Form
Leukodystrophy, Dystonia, Clumsiness, Orthostatic hypotension due to autonomic dysfunction, Bilat... ORPHA:309271
Autosomal Recessive Spastic Paraplegia Type 35
Pontocerebellar atrophy, Lower limb hypertonia, Cerebral cortical atrophy, Generalized dystonia, ... ORPHA:171629
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Chorioretinal coloboma, Hydrocephalus, Posteriorly rotated ears, Low-set ears, Aplasia/Hypoplasia... OMIM:300864
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypsarrhythmia, Hypoplasia of the corpus callosum, Hypertonia, Optic nerve hypoplasia, Microcepha... OMIM:618890
Spinocerebellar Ataxia, Autosomal Recessive 18
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Incoordination, Flexion contracture, Oculomotor ... OMIM:616204
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Cerebellar atrophy, Generalized amyotrophy, Myopathy, Microcephaly, Ragge... ORPHA:352447
Autosomal Dominant Optic Atrophy, Classic Form
Abnormal periventricular white matter morphology, Central scotoma, Color vision defect, Sensorine... ORPHA:98673
Dystonia With Cerebellar Atrophy
Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia, Torticollis, Cerebellar atrophy OMIM:611694
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:431329
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Limb dysmetria, Head tremor, Upper limb spasticity, Hypoplasia of the corpus ... OMIM:614409
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Truncal ataxia, Dysmetria OMIM:616127
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Cogwheel rigidity, Gait ataxia, Incoordination, Parkinsonism... OMIM:128230
Pontocerebellar Hypoplasia, Type 13
Inability to walk, Gait ataxia, Overfolded helix, Hypoplasia of the corpus callosum, Hypoplastic ... OMIM:618606
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Axonal loss, Cerebral atrophy, Ataxia, Cerebellar atrophy, Hearing impairment, Dysmetria,... OMIM:618170
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Hypertonia, Flexion contracture, Intention tremor, Scotoma, Ataxia, Cerebell... OMIM:616505
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Intention tremor OMIM:302500
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of extrapyra... OMIM:260300
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Hemimegalencephaly
Optic atrophy, Abnormal neuron morphology, Gliosis ORPHA:99802
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
High myopia, Microcephaly, Growth delay, Abnormality of visual evoked potentials OMIM:614457
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Macroglossia, Pachygyria, Proximal ... OMIM:606612
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Somatic sensory dy... ORPHA:363710
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Achromatopsia
Abnormal macular morphology, Undetectable light-adapted electroretinogram, Absent foveal reflex, ... ORPHA:49382
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Gait ataxia, Photophobia, Neurodegeneration, Cerebellar atrophy, Hearing impairment, Retinal tela... ORPHA:438134
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Spastic paraplegia, Delayed myelination, Reduced visual acuity, Cerebral atrophy, Limb hypertonia... OMIM:617296
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape, Hypertrophic cardiomyopathy OMIM:610773
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, Spasticity OMIM:607317
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Hypoplasia of the corpus callosum, Cerebral atrophy, Spasticity, Cerebellar atrophy, Polymicrogyr... OMIM:618973
Neuromyelitis Optica Spectrum Disorder
Visual loss, Optic neuritis, Somatic sensory dysfunction, Peripheral demyelination, Paraplegia, N... ORPHA:71211
X-Linked Progressive Cerebellar Ataxia
Dysdiadochokinesis, Clumsiness, Progressive gait ataxia, Limb ataxia, Axonal loss, Progressive ce... ORPHA:1175
Spastic Ataxia 3, Autosomal Recessive
Dystonia, Gait ataxia, Spastic ataxia, Mild hearing impairment, Cerebral cortical atrophy, Cerebe... OMIM:611390
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy OMIM:616188
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Flexion contracture, Hearing impairment, Left vent... OMIM:616733
Leigh Syndrome
Dystonia, Decreased activity of mitochondrial complex III, Abnormality of extrapyramidal motor fu... ORPHA:506
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Dysesthesia, Onion bulb formation, Unsteady gait, Distal lower limb muscle weakness, Acute demyel... ORPHA:98916
Usher Syndrome, Type Iiib
Optic disc pallor OMIM:614504
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign OMIM:615362
Spinocerebellar Ataxia, Autosomal Recessive 24
Limb ataxia, Spastic gait, Gait ataxia, Cerebellar atrophy OMIM:617133
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Myo... ORPHA:98763
Retinohepatoendocrinologic Syndrome
Cone dystrophy, Optic disc pallor OMIM:268040
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Impaired vibration sensation in ... OMIM:600363
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Babinski sign, Spasticity OMIM:615768
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Ceroid Lipofuscinosis, Neuronal, 2
Increased extraneuronal autofluorescent lipopigment, Cerebral atrophy, Ataxia, Retinal degenerati... OMIM:204500
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Leukodystrophy, Visual loss, Ventricular hypertrophy, Truncal ataxia, Limb ataxia, Ventriculomega... OMIM:619051
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Dystonia, Chorea, Eyelid myoclonus, Cerebral atrophy, Hypop... ORPHA:178469
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Leukodystrophy, Dystonia, Postural tremor, Hypoplasia of the corpus callosum, Myopia, Ataxia, Abn... OMIM:607694
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Decreased plasma carnitine, Leukodystrophy, Dystonia, Hypoplasia of the corpus callosum, Progress... ORPHA:431361
Leukodystrophy, Hypomyelinating, 15
Inability to walk, Leukodystrophy, Dystonia, Hypermetropia, Hypoplasia of the corpus callosum, Ab... OMIM:617951
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Peripheral hypomyel... OMIM:605253
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia, Cerebellar vermis atrophy ORPHA:211017
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Spinocerebellar Ataxia Type 5
Gait disturbance, Incoordination, Slurred speech, Cerebellar atrophy ORPHA:98766
Juvenile Neuronal Ceroid Lipofuscinosis
Visual loss, Clumsiness, Interictal EEG abnormality, Poor fine motor coordination, Myoclonic spas... ORPHA:79264
Oculocutaneous Albinism Type 1A
Ocular albinism, Abnormality of the optic nerve, Visual impairment, Photophobia, Hypoplasia of th... ORPHA:79431
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Spastic paraplegia, Dystonia, Poor fine motor coordination, Ataxia, Subependymal cysts, Unsteady ... OMIM:245349
Camos Syndrome
Optic atrophy ORPHA:83472
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Intention tremor, Ataxia, Achilles tendon contracture, Cerebellar atrophy, Distal amyotrophy, Sen... OMIM:612674
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor OMIM:617460
Acute Zonal Occult Outer Retinopathy
Visual loss, Central scotoma, Visual field defect, Retinal pigment epithelial mottling, Vitritis,... ORPHA:284454
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Tremor, Ataxia OMIM:617917
Combined Oxidative Phosphorylation Deficiency 14
Ventriculomegaly, Cerebral atrophy, Aminoaciduria, Cerebellar atrophy, Hearing impairment, EEG ab... OMIM:614946
Multiple Mitochondrial Dysfunctions Syndrome 3
Leukodystrophy, Arthrogryposis multiplex congenita, Hypoplasia of the corpus callosum, Abnormal c... OMIM:615330
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Progressive Myoclonic Epilepsy Type 3
Aplasia/Hypoplasia of the corpus callosum, EEG with focal epileptiform discharges, Abnormality of... ORPHA:263516
Leigh Syndrome With Leukodystrophy
Leukodystrophy, Dystonia, Focal T2 hyperintense basal ganglia lesion, Pigmentary retinopathy, Ven... ORPHA:255241
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Hypoplasia of the corpus callosum, Myopathy, Dilation of lateral ventr... OMIM:616816
Amyotrophy, Hereditary Neuralgic
Low-set ears, Skeletal muscle atrophy, Peripheral axonal degeneration, Axonal degeneration, Brach... OMIM:162100
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Decreased muscle mass, Decreased number of peripheral myelinated nerve fibers,... OMIM:615490
4H Leukodystrophy
Dysdiadochokinesis, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Progressive g... ORPHA:289494
Developmental And Epileptic Encephalopathy 28
Hypoplasia of the corpus callosum, Cerebral atrophy, Retinal degeneration, Abnormal electroretino... OMIM:616211
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Tremor, Hypomimic face, Cerebral atrophy, Ankle clonus, Bradykinesia, Progressive inabi... ORPHA:521406
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor OMIM:217080
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Abnormal autonomic nervous system physiology, Gliosis OMIM:614498
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome