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Gene: Opa1 MGI:1921393

Gene Summary

Name:

OPA1, mitochondrial dynamin like GTPase

Synonyms:

optic atrophy 1, 1200011N24Rik, lilr3

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	Allele	Zyg	Life Stage
abnormal somite shape	Opa1^em1(IMPC)Bay	HOM	E9.5
embryonic lethality prior to tooth bud stage	Opa1^em1(IMPC)Bay	HOM	E12.5
abnormal neural tube morphology	Opa1^em1(IMPC)Bay	HOM	E9.5
embryonic growth retardation	Opa1^em1(IMPC)Bay	HOM	E9.5
abnormal visceral yolk sac morphology	Opa1^em1(IMPC)Bay	HOM	E9.5
abnormal embryo size	Opa1^em1(IMPC)Bay	HOM	E9.5
preweaning lethality, complete penetrance	Opa1^em1(IMPC)Bay	HOM	Early adult
abnormal heart morphology	Opa1^em1(IMPC)Bay	HOM	E9.5
abnormal forebrain development	Opa1^em1(IMPC)Bay	HOM	E9.5
abnormal embryo turning	Opa1^em1(IMPC)Bay	HOM	E9.5
abnormal pharyngeal arch morphology	Opa1^em1(IMPC)Bay	HOM	E9.5
abnormal neural tube closure	Opa1^em1(IMPC)Bay	HOM	E9.5

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

VIP of right eye

18 Images

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Eye Morphology

VIP of left fundus

18 Images

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Eye Morphology

VIP of right fundus

18 Images

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Eye Morphology

VIP of left eye

18 Images

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MicroCT E9.5

Embryo reconstruction

5 Images

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Human diseases caused by Opa1 mutations

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

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

Human diseases associated with Opa1 (6 diseases)
Human diseases predicted to be associated with Opa1 (1595 diseases)

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

Disease	Matching phenotypes	Source
Optic Atrophy 1	Central scotoma, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Abnormal amplit...	OMIM:165500
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Constriction of peripheral visual field, Ataxia, Limb-girdle...	ORPHA:1215
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
Behr Syndrome	Cerebellar atrophy, Blindness, Ataxia, Tremor, Achilles tendon contracture, Unsteady gait, Optic ...	OMIM:210000
Autosomal Dominant Optic Atrophy, Classic Form	Cerebellar atrophy, Skeletal muscle atrophy, Scapular winging, Ataxia, Morning glory anomaly, Mod...	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	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
Åland 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	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Spinocerebellar Ataxia, Autosomal Recessive 33	Dilated fourth ventricle, Broad-based gait, Head titubation, Reduced visual acuity, Gait ataxia, ...	OMIM:620208
Charcot-Marie-Tooth Disease, Type 4B3	Skeletal muscle atrophy, Onion bulb formation, Decreased nerve conduction velocity, Distal sensor...	OMIM:615284
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Optic disc pallor, Macular atrophy, Hypoplasia of the pons, Partial agenesis ...	OMIM:616171
Spinocerebellar Ataxia, Autosomal Recessive 8	Cerebellar atrophy, Peripheral axonal neuropathy, Optic atrophy, Limb ataxia, Dysmetria, Gait ata...	OMIM:610743
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Cockayne Syndrome A	Abnormal peripheral myelination, Tremor, Retinal atrophy, Ataxia, Retinal pigment epithelial mott...	OMIM:216400
Tremor, Hereditary Essential, 2	Kinetic tremor, Upper limb postural tremor	OMIM:602134
Leukodystrophy, Hypomyelinating, 21	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Cryptorchidism, Optic atrophy, Athetosis, Te...	OMIM:619310
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased number of large...	OMIM:615376
Asparagine Synthetase Deficiency	Caudate atrophy, Cerebellar vermis hypoplasia, Clonus, Cerebral visual impairment, Hypoplasia of ...	OMIM:615574
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Somatic sensory dysfunction, Optic atrophy, Generalized limb muscle atroph...	ORPHA:466794
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens...	OMIM:600363
Spasticity, Childhood-Onset, With Hyperglycinemia	Optic atrophy	OMIM:616859
Spinocerebellar Ataxia Type 28	Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t...	ORPHA:101109
Spinocerebellar Ataxia Type 30	Limb ataxia, Cerebellar vermis atrophy, Gait ataxia	ORPHA:211017
Spinocerebellar Ataxia Type 5	Cerebellar atrophy, Incoordination, Slurred speech, Gait disturbance	ORPHA:98766
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, Hypertonia, Ventriculomegaly	OMIM:618730
Alg13-Cdg	Clumsiness, Abnormal lateral ventricle morphology, Global brain atrophy, Hypsarrhythmia	ORPHA:324422
Microlissencephaly	Cerebellar atrophy, Cerebral dysmyelination, Hypertonia, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:1083
White-Sutton Syndrome	Waddling gait, Myopia, Delayed CNS myelination, Facial hypotonia, Optic nerve hypoplasia, Congeni...	OMIM:616364
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Peripheral axonal degeneration, Spinal muscular atrophy, Camptodactyly of finger, Decreased nerve...	OMIM:604320
Lethal Congenital Contracture Syndrome 8	Flexion contracture, Vocal cord paralysis, Distal sensory impairment, Facial diplegia, Distal amy...	OMIM:616287
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Delayed CNS myelination, Partial agenesis of the corpus callosum, Optic nerve dysplasia, Spastic ...	OMIM:617296
Spastic Paraplegia 46, Autosomal Recessive	Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Babinski sign, Impaired ...	OMIM:614409
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy	Cerebellar atrophy, Sensorineural hearing impairment, Spastic tetraparesis, Brain atrophy	OMIM:618741
Striatonigral Degeneration, Infantile	Optic atrophy	OMIM:271930
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Dysmyelinating leukodyst...	OMIM:612319
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Achilles tendon contracture, Sen...	OMIM:612674
Metachromatic Leukodystrophy, Adult Form	Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Reduced visual acuity,...	ORPHA:309271
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Optic nerve hypoplasia, Hypsarrhythmia, Lateral ventricle dilatation, Hypertonia, Spasticity	OMIM:618890
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Hypoplasia of the pons, Oromotor apraxia, Hemiparesis, Lateral ventricle dila...	ORPHA:300573
Peroxisome Biogenesis Disorder 6B	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Retinal dystrophy, Sensorineural hearin...	OMIM:614871
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Scotoma, Tremor, Cerebellar gliosis, Fl...	OMIM:616505
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2	Cerebellar atrophy, Optic disc pallor, Inability to walk, Optic atrophy, Hypsarrhythmia, Spastici...	OMIM:617086
Mucolipidosis Iv	Cerebellar atrophy, Cerebral dysmyelination, Dysplastic corpus callosum, Babinski sign, Optic atr...	OMIM:252650
Acute Zonal Occult Outer Retinopathy	Blind-spot enlargment, Abnormal electroretinogram, Vitritis, Myopia, Retinal pigment epithelial m...	ORPHA:284454
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo...	ORPHA:454887
Mitochondrial Dna Depletion Syndrome 17	Cerebellar atrophy, Spastic tetraparesis, Chorea, Decreased activity of mitochondrial complex IV,...	OMIM:618567
Mitochondrial Dna Depletion Syndrome 18	Hand muscle atrophy, Clonus, Axonal degeneration, Distal amyotrophy, Falls, Tongue fasciculations...	OMIM:618811
Congenital Hydrocephalus	Posteriorly rotated ears, Hydrocephalus, Sensorineural hearing impairment, Optic atrophy, Abnorma...	ORPHA:2185
Dystonia With Cerebellar Atrophy	Cerebellar atrophy, Progressive cerebellar ataxia, Torticollis	OMIM:611694
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Cerebellar atrophy, Inability to walk, Ataxia	OMIM:619333
Spinocerebellar Ataxia 35	Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ...	OMIM:613908
Amyotrophy, Hereditary Neuralgic	Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degeneration, Brachial plexus neu...	OMIM:162100
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Cerebellar atrophy, Skeletal muscle atrophy, Broad-based gait, Ataxia, Clonus, Demyelinating moto...	OMIM:616479
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Impaired distal vibration sensation, Tongue fasciculations, Fasciculations, Increased int...	ORPHA:276435
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Delayed CNS myelination, Spastic tetraplegia, High myopia, Photophobia, Brain atrophy, Abnormalit...	OMIM:614457
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Camos Syndrome	Optic atrophy	ORPHA:83472
Congenital Disorder Of Glycosylation, Type Iiz	Appendicular spasticity, Diffuse cerebellar atrophy, Limb joint contracture, Clonus	OMIM:620201
Retinitis Pigmentosa 46	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels	OMIM:612572
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Sensorineur...	OMIM:610185
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Fasciculations	OMIM:182980
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Failure to thrive, Myoclonus, Dystonia	OMIM:619651
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor...	ORPHA:98762
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Delayed CNS myelination, Spastic tetraparesis, EEG abnormality, Lateral ventricle dilatation, Cer...	OMIM:617668
Multiple Sulfatase Deficiency	Cerebellar atrophy, Ataxia, Hydrocephalus, Cerebral atrophy, CNS demyelination, Spasticity, Retin...	OMIM:272200
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia	OMIM:618093
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Delayed CNS myelination, A...	OMIM:617710
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity	OMIM:615924
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Slurred speech, Clumsiness...	ORPHA:2386
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Ocular albinism, Photophobia, Abnormal optic nerve morphology, Abnormali...	ORPHA:79431
Spastic Paraplegia 78, Autosomal Recessive	Cerebellar atrophy, Impaired vibratory sensation, Peripheral axonal neuropathy, Resting tremor, A...	OMIM:617225
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Preeclampsia/Eclampsia 1	Intrauterine growth retardation, Edema	OMIM:189800
Spastic Ataxia-Corneal Dystrophy Syndrome	Optic atrophy	ORPHA:2572
Urocanase Deficiency	Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Delayed CNS myelination, Retinal pigment epithelial mottling, Partial agenesis of the corpus call...	OMIM:619517
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Nyctalopia, Pigmentary retinopathy, Abnormal electrooculogram	OMIM:179840
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Macular coloboma, Clonus, Spastic tetraparesis, Delayed mye...	ORPHA:423479
Deafness, Autosomal Recessive 104	Prelingual sensorineural hearing impairment, Absent brainstem auditory responses, Positive Romber...	OMIM:616515
Autosomal Recessive Spastic Paraplegia Type 35	Cerebellar atrophy, Lower limb spasticity, Spastic tetraparesis, Corpus callosum atrophy, Oculomo...	ORPHA:171629
Cln3 Disease	Cerebellar atrophy, Blindness, Extrapyramidal muscular rigidity, Ataxia, Bull's eye maculopathy, ...	ORPHA:228346
Lissencephaly 4	Babinski sign, Colpocephaly, Hypertonia, Cerebellar hypoplasia, Agenesis of corpus callosum	OMIM:614019
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Congenital fibrosis of ext...	ORPHA:300570
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia, Small for gestational age	OMIM:278780
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Diplopia, Slurred spee...	ORPHA:284289
Pontocerebellar Hypoplasia, Type 13	Cerebellar vermis hypoplasia, Cerebral visual impairment, Hypoplasia of the pons, Inability to wa...	OMIM:618606
Leukodystrophy, Hypomyelinating, 14	Cerebellar atrophy, Blindness, Cerebral atrophy, Spasticity, Hearing impairment	OMIM:617899
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ...	OMIM:619862
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Cerebellar atrophy, Optic disc pallor, Ataxia, Spastic tetraparesis, Babinski sign, Cerebral atro...	OMIM:615838
Mitochondrial Dna Depletion Syndrome 11	Cerebellar atrophy, Facial palsy, Dilated cardiomyopathy, Ragged-red muscle fibers, Decreased act...	OMIM:615084
Spinocerebellar Ataxia 30	Cerebellar atrophy, Ataxia	OMIM:613371
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Onion bulb formation, Periphe...	OMIM:218000
Epilepsy, Progressive Myoclonic, 8	Cerebellar atrophy, Truncal ataxia, Limb ataxia, EEG with photoparoxysmal response, Choreoathetos...	OMIM:616230
Ceroid Lipofuscinosis, Neuronal, 2	Ataxia, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent l...	OMIM:204500
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:600116
Infantile Cerebellar-Retinal Degeneration	Cerebellar atrophy, Ataxia, Retinal dystrophy, Sensorineural hearing impairment, Optic atrophy, A...	OMIM:614559
Autosomal Dominant Optic Atrophy, Classic Form	Cerebellar atrophy, Skeletal muscle atrophy, Scapular winging, Ataxia, Morning glory anomaly, Mod...	ORPHA:98673
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebellar atrophy, Delayed CNS myelination, Parkinsonism, Action tremor, Rigidity, Babinski sign...	OMIM:300423
Mitochondrial Complex I Deficiency, Nuclear Type 28	Cerebellar atrophy, Optic disc pallor, Lower limb spasticity, Optic neuropathy, Akinesia, Optic a...	OMIM:618249
Mitochondrial Complex I Deficiency, Nuclear Type 5	Cerebellar atrophy, Ataxia, Babinski sign, Optic atrophy, Brain atrophy, Leukodystrophy, Decrease...	OMIM:618226
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cerebellar atrophy, Skeletal muscle atrophy, Cerebellar vermis hypoplasia, Ataxia, Pericardial ef...	OMIM:620089
Leukoencephalopathy With Vanishing White Matter 1	Optic atrophy, Gliosis	OMIM:603896
Spastic Paraplegia With Neuropathy And Poikiloderma	Demyelinating sensory neuropathy, Demyelinating motor neuropathy, Spastic paraplegia, Distal amyo...	OMIM:182815
Merrf	Optic atrophy	ORPHA:551
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella...	ORPHA:284332
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal autonomic nervous system physiology, Abnormal pyramidal sign, Peripheral demyelination, ...	DECIPHER:59
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ventricular septal defect, Bicuspid aorti...	OMIM:617751
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Tremor, Ataxia, Obesity, Limb dystonia	OMIM:620270
Night Blindness, Congenital Stationary, Type 1C	Congenital stationary night blindness, Myopia, Abnormal electroretinogram, Reduced visual acuity	OMIM:613216
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Cavitary Optic Disc Anomalies	Peripapillary atrophy	OMIM:611543
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb...	ORPHA:216873
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cerebellar atrophy, Ataxia, Cardiomegaly, Dysesthesia, Vertigo, Diplopia, Optic atrophy, Unsteady...	OMIM:619259
Paraparetic Variant Of Guillain-Barré Syndrome	Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination, Impaired distal proprioception	ORPHA:231445
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Spinocerebellar Ataxia Type 41	Cerebellar vermis atrophy, Gait ataxia	ORPHA:458798
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r...	OMIM:204100
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Myopia, Tremor, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Eleva...	ORPHA:529665
Mitochondrial Complex I Deficiency, Nuclear Type 29	Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Mitochondrial swellin...	OMIM:618250
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Onion bulb formation, Ataxia, Dysmetria, Distal amyotrophy, D...	OMIM:614487
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Congenital diaphragmatic hernia, Retinal telangiectasia, Gait ataxia, Photoph...	ORPHA:438134
Mast Syndrome	Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi...	OMIM:248900
Nanophthalmos 4	Optic disc drusen	OMIM:615972
Progressive Myoclonic Epilepsy Type 3	Cerebellar atrophy, Progressive truncal ataxia, Focal EEG discharges with secondary generalizatio...	ORPHA:263516
Dystonia 16	Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si...	OMIM:612067
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Clumsiness,...	OMIM:610003
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Prune1-Related Neurological Syndrome	Cerebellar atrophy, Clonus, Spastic tetraparesis, Cerebral visual impairment, Inability to walk, ...	ORPHA:544469
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Autosomal Recessive Spastic Paraplegia Type 66	Lower limb spasticity, Progressive spastic paraplegia, Impaired vibration sensation in the lower ...	ORPHA:401815
Peho-Like Syndrome	Cerebellar atrophy, Optic atrophy, Hypsarrhythmia, Myoclonus, Ventriculomegaly	OMIM:617507
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bra...	ORPHA:521406
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Combined Oxidative Phosphorylation Deficiency 27	Cerebellar atrophy, Chorea, Decreased activity of mitochondrial complex IV, Multifocal epileptifo...	OMIM:616672
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Tangier Disease	Peripheral axonal neuropathy, Impaired pain sensation, Impaired temperature sensation, Facial dip...	OMIM:205400
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Mpdu1-Cdg	Abnormal circulating enzyme concentration or activity, Optic atrophy, Absence of acoustic reflex,...	ORPHA:79323
Combined Oxidative Phosphorylation Deficiency 18	Skeletal muscle atrophy, Increased mitochondrial number, Tremor, Dysmetria, Decreased activity of...	OMIM:615578
Spinocerebellar Ataxia, X-Linked 1	Intention tremor, Ataxia, Abnormality of extrapyramidal motor function, Action tremor	OMIM:302500
Mitochondrial Complex I Deficiency, Nuclear Type 6	Skeletal muscle atrophy, Optic disc pallor, Ataxia, Optic atrophy, Abnormal pyramidal sign, Decre...	OMIM:618228
Childhood-Onset Spasticity With Hyperglycinemia	Ataxia, Loss of ability to walk in early childhood, Unsteady gait, Optic atrophy, Babinski sign, ...	ORPHA:401866
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Aganglionic megacolon, Optic nerve hypopl...	ORPHA:171680
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Babinski sign, Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Br...	OMIM:619063
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Clonus, Cerebral visual impairment, Cryptorchidism, Sensorineural hearing impairm...	OMIM:619847
Spinocerebellar Ataxia 50	Cerebellar atrophy, Ataxia, Postural tremor, Action tremor, Chorea, Diplopia, Myoclonus, Head tre...	OMIM:620158
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Elevated hepatic transaminase, Decreased muscle mass, ...	ORPHA:298
Periventricular Nodular Heterotopia 8	Delayed CNS myelination, Cerebellar vermis atrophy, Spasticity	OMIM:618185
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Charcot-Marie-Tooth Disease Type 1B	Skeletal muscle atrophy, Somatic sensory dysfunction, Peripheral axonal neuropathy, Decreased ner...	ORPHA:101082
Intellectual Developmental Disorder, X-Linked 101	Optic atrophy	OMIM:300928
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Cerebellar atrophy, Skeletal muscle atrophy, Ventriculomegaly, Facial palsy, Elbow contracture, A...	OMIM:606612
Lethal Congenital Contracture Syndrome 7	Cerebellar atrophy, Skeletal muscle atrophy, Paralysis, Cerebral atrophy, Knee flexion contractur...	OMIM:616286
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Ataxia, Dysmetria	OMIM:617917
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Dysmetria, Cerebral atrophy, ...	OMIM:618088
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra...	ORPHA:240103
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebellar atrophy, Resting tremor, Ataxia, Sensorineural hearing impairment, Babinski sign, Opti...	ORPHA:314404
Cone-Rod Dystrophy 19	Cone/cone-rod dystrophy, Reduced visual acuity, High myopia, Perifoveal ring of hyperautofluoresc...	OMIM:615860
Leukoencephalopathy With Vanishing White Matter 2	Optic atrophy	OMIM:620312
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Ataxia, Retinal dystrophy, Tremor, Sensorineural hearing impairment, Unsteady...	OMIM:614867
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Ataxia, Symmetric peripheral demyelination, Corpus callosum atrophy, Abnormal cerebellum morpholo...	OMIM:169500
Spinocerebellar Ataxia 49	Cerebellar atrophy, Ataxia, Diplopia, Unsteady gait, Babinski sign, Dysmetria, Dysdiadochokinesis...	OMIM:619806
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Chorea, Decreased activity of mitochondrial...	ORPHA:506
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Inability to walk, Lateral ventricle dilatation, Low-set ears, Ventricu...	OMIM:613443
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ...	ORPHA:276193
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of corpus ...	OMIM:618736
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Distal lower limb amyotrophy, Claw hand deformity, Sensorineural hearing impairment, Distal senso...	OMIM:614455
Usher Syndrome Type 3	Scotoma, Visual loss, Nyctalopia, Abnormal electroretinogram, Depression, Hemianopia, High hyperm...	ORPHA:231183
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Ventricular septal defect, Cryptorchidism, Macrotia, Abnormality of pattern visual evoked potenti...	ORPHA:166035
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Myopia, Cerebellar vermis hypoplasia, Retinal dystrophy, Facial palsy, Inability to walk, Hydroce...	OMIM:613155
Developmental And Epileptic Encephalopathy 58	Optic atrophy	OMIM:617830
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Diabetes Insipidus, Neurohypophyseal	Gliosis	OMIM:125700
Developmental And Epileptic Encephalopathy 47	Cerebellar atrophy, Optic disc pallor, Ataxia, Cerebral visual impairment, Inability to walk, Mul...	OMIM:617166
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Dysplastic corpus callosum, Inabi...	ORPHA:357058
Ceroid Lipofuscinosis, Neuronal, 10	Cerebellar atrophy, Retinal atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Rigi...	OMIM:610127
Usher Syndrome Type 1	Ataxia, Scotoma, Visual loss, Sensorineural hearing impairment, Abnormal electroretinogram, Nycta...	ORPHA:231169
Leigh Syndrome	Pigmentary retinopathy, Optic atrophy, Gliosis	OMIM:256000
Sodium-Dependent Multivitamin Transporter Deficiency	Cerebellar atrophy, Cerebral palsy, Hypoplasia of the pons, Cerebral atrophy, Spasticity	OMIM:618973
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebellar atrophy, Skeletal muscle atrophy, Delayed CNS myelination, Elevated hepatic transamina...	OMIM:615471
Combined Oxidative Phosphorylation Deficiency 39	Cerebellar atrophy, Involuntary movements, Flexion contracture, Decreased activity of mitochondri...	OMIM:618397
Ruvalcaba Syndrome	Cryptorchidism, Abnormal electroretinogram, Delayed puberty, Abnormality of visual evoked potenti...	ORPHA:3121
Leukoencephalopathy With Vanishing White Matter 4	Optic atrophy	OMIM:620314
Neurodevelopmental Disorder With Involuntary Movements	Cerebellar atrophy, Delayed CNS myelination, Involuntary movements, Chorea, Multifocal epileptifo...	OMIM:617493
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Optic disc pallor, Interictal EEG abnormality, Large central visual field def...	ORPHA:79264
Alg2-Cdg	Cerebral hypomyelination, Lateral ventricle dilatation, Abnormal circulating enzyme concentration...	ORPHA:79326
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Cerebellar atrophy, Cerebral visual impairment, Choreoathetosis, Decreased circulating carnitine ...	ORPHA:431361
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Cerebellar atrophy, Torticollis, Ataxia, Hearing impairment, Cerebral visual impairment, Optic at...	OMIM:618547
Leukodystrophy, Hypomyelinating, 11	Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive	OMIM:616494
Leg, Absence Deformity Of, With Congenital Cataract	Optic nerve dysplasia	OMIM:246000
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Deafness, Dystonia, And Cerebral Hypomyelination	Cerebellar atrophy, Sensorineural hearing impairment, Optic atrophy, Abnormal pyramidal sign, Cer...	OMIM:300475
Cockayne Syndrome B	Ataxia, Cerebellar calcifications, Abnormal peripheral myelination, Abnormal auditory evoked pote...	OMIM:133540
Mitochondrial Complex I Deficiency, Nuclear Type 34	Optic disc pallor, Optic atrophy	OMIM:618776
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Leukodystrophy, Hypomyelinating, 12	Cerebellar atrophy, Cerebral visual impairment, Delayed myelination, Flexion contracture, Optic a...	OMIM:616683
Spastic Ataxia 9, Autosomal Recessive	Ataxia, Impaired distal vibration sensation, Hoffmann sign, Reduced visual acuity, Dysmetria, Abn...	OMIM:618438
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Cerebellar atrophy, Cerebral visual impairment, Inability to walk, Chorea, Cerebral atrophy, EEG ...	OMIM:614254
Central Neurocytoma	Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Babinski sign, ...	ORPHA:73256
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Peripheral axonal neuropathy, Optic atrophy	ORPHA:320360
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki...	ORPHA:363654
Spastic Paraplegia, Ataxia, And Mental Retardation	Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensati...	OMIM:607565
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Optic atrophy	ORPHA:2787
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Leukodystrophy, Ocu...	OMIM:612438
Harel-Yoon Syndrome	Cerebellar atrophy, Myopia, Peripheral axonal neuropathy, Ataxia, Inability to walk, Optic atroph...	OMIM:617183
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cerebellar atrophy, Myopia, Peripheral axonal neuropathy, Optic nerve hypoplasia, Cryptorchidism,...	ORPHA:496790
Spastic Paraplegia 81, Autosomal Recessive	Retinal vascular tortuosity, Optic atrophy	OMIM:618768
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism...	ORPHA:314632
Hsd10 Disease, Infantile Type	Abnormal circulating enzyme concentration or activity, Diffuse cerebral atrophy, Blindness, Spast...	ORPHA:391428
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Multiple joint contractures, Cerebellar vermis hypoplasia, Abnormal pinn...	OMIM:618291
Cerebellar Atrophy, Developmental Delay, And Seizures	Cerebellar atrophy, EEG abnormality	OMIM:617643
Spastic Paraplegia 45, Autosomal Recessive	Optic atrophy	OMIM:613162
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Cerebellar atrophy, Skeletal muscle atrophy, Delayed CNS myelination, Clonus, Spastic tetraparesi...	OMIM:617481
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Failure to thrive, Ataxia	OMIM:618951
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Myopia, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmet...	OMIM:607694
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Gait ataxia, Abnormal optic nerve morphology, Tongue f...	ORPHA:99949
Slowed Nerve Conduction Velocity, Autosomal Dominant	Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination	OMIM:608236
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Juvenile Huntington Disease	Cerebellar atrophy, Ventriculomegaly, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Br...	ORPHA:248111
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Cerebellar atrophy, Decreased activity of mitochondrial complex IV, Cerebral atrophy, Hypsarrhyth...	OMIM:619060
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia	OMIM:605909
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Type ...	OMIM:619028
Boucher-Neuhauser Syndrome	Cerebellar atrophy, Chorioretinal dystrophy, Ataxia, Retinal dystrophy, Gait ataxia, Spinocerebel...	OMIM:215470
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Peripheral axonal neuropathy, Optic atrophy	OMIM:620221
Sandhoff Disease, Juvenile Form	Cerebellar atrophy, Skeletal muscle atrophy, Incoordination, Limb joint contracture, Ataxia, Redu...	ORPHA:309162
Malan Overgrowth Syndrome	Optic disc pallor, Optic disc hypoplasia, Lateral ventricle dilatation, Episodic ataxia, Ventricu...	ORPHA:420179
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Retinal arteriolar constriction, Optic atrophy	OMIM:249660
Glutamine Deficiency, Congenital	Flexion contracture, CNS hypomyelination, Subependymal cysts, Lateral ventricle dilatation, Brain...	OMIM:610015
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Short stature, Optic atrophy, Abnormal autonomic nervous system physiolo...	OMIM:231550
Mogs-Cdg	Absent brainstem auditory responses, Cardiomegaly, Sensorineural hearing impairment, Optic atroph...	ORPHA:79330
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
Unilateral Hemispheric Polymicrogyria	Hemiparesis, Lateral ventricle dilatation, EEG with focal epileptiform discharges	ORPHA:101071
Pontocerebellar Hypoplasia, Type 3	Cerebellar atrophy, Optic disc pallor, Hypoplasia of the pons, Optic atrophy, Cerebral atrophy, C...	OMIM:608027
Spinocerebellar Ataxia 46	Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign, Sensory axonal ne...	OMIM:617770
Distal Deletion 10Q	Myopia, Scapular winging, Ataxia, Clonus, Congenital sensorineural hearing impairment, Oculomotor...	ORPHA:96148
Intellectual Developmental Disorder, X-Linked 103	Bilateral cryptorchidism, Lateral ventricle dilatation	OMIM:300982
Parkinson Disease 17	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia	OMIM:614203
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Band Heterotopia	Hydrocephalus, Lateral ventricle dilatation, Spasticity, Agenesis of corpus callosum, Ventriculom...	OMIM:600348
4H Leukodystrophy	Cerebellar atrophy, Myopia, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dy...	ORPHA:289494
Familial Or Sporadic Hemiplegic Migraine	Impaired temperature sensation, Dissociated sensory loss, Progressive gait ataxia, Alien limb phe...	ORPHA:569
Mohr-Tranebjaerg Syndrome	Myopia, Constriction of peripheral visual field, Cerebral visual impairment, Abnormal electroreti...	OMIM:304700
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Abnormal electroretinogra...	OMIM:613810
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Cerebellar atrophy, Proximal muscle weakness in upper limbs, Lower limb spasticity, Babinski sign...	ORPHA:496689
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng...	OMIM:617284
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet...	OMIM:616948
Dystonia 23	Cerebellar atrophy, Torticollis, Gait disturbance, Myoclonus, Head tremor, Cerebral cortical atrophy	OMIM:614860
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Myopia, Lower limb spasticity, Abnormality of the musculature of the lower limbs, ...	ORPHA:464282
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Nyctalopia, Abnormal light- and dark-adapted electroreti...	OMIM:613801
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Optic atrophy	ORPHA:1171
Global Developmental Delay With Or Without Impaired Intellectual Development	Ventricular septal defect, Poor fine motor coordination, Lateral ventricle dilatation, Low-set ea...	OMIM:618330
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Abnormal pyramidal sign, Tetraplegia,...	ORPHA:369939
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Optic atrophy	OMIM:619052
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Low-set, posteriorly rotated ears, Myopia, Ventriculomegaly, Cerebellar vermis hypoplasia, Retina...	ORPHA:397715
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Cerebellar atrophy, Delayed CNS myelination, Multiple joint contractures, Cerebral visual impairm...	ORPHA:466934
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Leukodystrophy, Hypomyelinating, 5	Decreased motor nerve conduction velocity, Onion bulb formation, Lower limb muscle weakness, Trun...	OMIM:610532
Spastic Paraplegia 50, Autosomal Recessive	Cerebellar atrophy, Optic disc pallor, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia...	OMIM:612936
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dystonia, Craniofacial...	ORPHA:71517
Metachromatic Leukodystrophy	Ataxia, Decreased nerve conduction velocity, Reduced leukocyte arylsulfatase A activity, Chorea, ...	OMIM:250100
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Optic atrophy, Facial palsy	ORPHA:178377
Huntington Disease-Like 2	Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Action tremor	OMIM:606438
Joubert Syndrome 6	Dilated fourth ventricle, Enlarged fossa interpeduncularis, Blindness, Cerebellar vermis hypoplas...	OMIM:610688
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Peripheral axona...	ORPHA:254930
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Cerebellar atrophy, Prominent antitragus, Ataxia, Low alkaline phosphatase	OMIM:618879
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Cerebellar atrophy, Broad-based gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar hypo...	OMIM:224050
Optic Atrophy 11	Dysmetria, Cherry red spot of the macula, Myopia, Delayed CNS myelination, Ataxia, EEG with focal...	OMIM:617302
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Myofiber disarray, Decreased activity of mitochondrial complex IV, Cerebral a...	OMIM:604377
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Cryptorchidism, Delayed myelination, Flexion contra...	OMIM:214150
Cherubism	Optic atrophy	ORPHA:184
Craniosynostosis 6	Cerebellar atrophy, Sensorineural hearing impairment, Lateral ventricle dilatation, Agenesis of c...	OMIM:616602
Christianson Syndrome	Cerebellar atrophy, Decreased muscle mass, Macrotia, Gait ataxia, Truncal ataxia, Aplasia/Hypopla...	ORPHA:85278
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Myoclonus	OMIM:615400
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Pericarditis, Delayed CNS myelination, Spastic tetraparesis, Porta...	OMIM:619487
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy...	OMIM:604213
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Facial palsy, Clonus, Hydrocephalus, Optic atrophy, Spastic tetraplegia, Cereb...	OMIM:259720
Spinocerebellar Ataxia 14	Cerebellar atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Facial myokymia, Impai...	OMIM:605361
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
Congenital Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, EEG with burst suppres...	ORPHA:168486
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Cerebellar atrophy, Ataxia, EEG with burst suppression, Spastic tetraplegia, Cerebellar hypoplasi...	OMIM:619971
Seizures, Cortical Blindness, And Microcephaly Syndrome	Optic atrophy	OMIM:616632
Developmental And Epileptic Encephalopathy 71	Gliosis	OMIM:618328
Srd5A3-Cdg	Cerebellar atrophy, Elevated hepatic transaminase, Ataxia, Optic disc hypoplasia, Abnormal cerebe...	ORPHA:324737
Autosomal Dominant Progressive External Ophthalmoplegia	Cerebral visual impairment, Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait at...	ORPHA:254892
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Diplopia, Ba...	ORPHA:284324
Leukodystrophy, Hypomyelinating, 17	Cerebellar atrophy, Inability to walk, Flexion contracture, Cerebral atrophy, Hypsarrhythmia, Leu...	OMIM:618006
Warburg Micro Syndrome 2	Asymmetry of the ears, Cryptorchidism, Flexion contracture, Optic atrophy, Spastic diplegia, Unde...	OMIM:614225
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,...	OMIM:617145
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Diplopia, Babinski sign, Cerebral a...	OMIM:618170
Dystonia 12	Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia	OMIM:128235
Spinocerebellar Ataxia 17	Cerebellar atrophy, Diffuse cerebral atrophy, Broad-based gait, Ataxia, Parkinsonism, Rigidity, C...	OMIM:607136
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Myopia, Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmetria, Ga...	OMIM:614381
Tay-Sachs Disease	Skeletal muscle atrophy, Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Cherry ...	ORPHA:845
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia, Deuteranopia, Amblyopia, High myopia...	OMIM:300843
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Inability to walk, Flexion contracture, Card...	ORPHA:258
Spinocerebellar Ataxia, Autosomal Recessive 21	Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia...	OMIM:616719
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Decreased liver ...	ORPHA:512260
Spinocerebellar Ataxia, Autosomal Recessive 6	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intention tremor	OMIM:608029
Wildervanck Syndrome	Pseudopapilledema	OMIM:314600
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Impaired distal proprioceptio...	OMIM:162400
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:607831
Congenital Disorder Of Glycosylation, Type Iig	Cerebellar atrophy, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Cryptorchidism, Condu...	OMIM:611209
Neurodevelopmental Disorder With Dystonia And Seizures	Cerebellar atrophy, Chorea, EEG with photoparoxysmal response, Spastic tetraplegia, Athetosis, Ce...	OMIM:619922
Metachromatic Leukodystrophy	Abnormal circulating enzyme concentration or activity, Incoordination, Ataxia, Decreased nerve co...	ORPHA:512
Opticocochleodentate Degeneration	Optic atrophy	OMIM:258700
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Unsteady gait, Dysmet...	OMIM:616127
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Leukodyst...	OMIM:617916
Dpm1-Cdg	Cerebellar atrophy, Elevated hepatic transaminase, Ventriculomegaly, Ataxia, Cerebral visual impa...	ORPHA:79322
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Hypoplasia of the pons, Impaired proprioception, Hand tremor, Head tremor, Retinal atrophy, Dista...	ORPHA:412057
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor	OMIM:616732
Spinocerebellar Ataxia, Autosomal Recessive 10	Cerebellar atrophy, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Fasciculations, Truncal a...	OMIM:613728
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia	ORPHA:324588
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Flexion contracture, Impaired proprioception, Abnormal pyramidal sign, Dysmetria,...	ORPHA:99027
Congenital Disorder Of Glycosylation, Type Iaa	Optic disc pallor, Attenuation of retinal blood vessels	OMIM:617082
Leber Congenital Amaurosis 6	Photophobia, High hypermetropia, Severely reduced visual acuity, Undetectable electroretinogram, ...	OMIM:613826
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention...	OMIM:301310
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome	Retrobulbar optic neuritis, Optic atrophy	ORPHA:3151
Oligocone Trichromacy	Photophobia, Abnormal electroretinogram	ORPHA:75378
Mitochondrial Complex I Deficiency, Nuclear Type 37	Cerebellar atrophy, Skeletal muscle atrophy, Corpus callosum atrophy, Cerebral atrophy, Opisthoto...	OMIM:619272
Molybdenum Cofactor Deficiency, Complementation Group A	Reduced xanthine dehydrogenase level, Molybdenum cofactor deficiency, Spastic tetraparesis, Sulfi...	OMIM:252150
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Succinic Semialdehyde Dehydrogenase Deficiency	Cerebellar atrophy, Delayed CNS myelination, Ataxia, Increased level of gamma-aminobutyric acid i...	OMIM:271980
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Skeletal muscle atrophy, Somatic sensory dysfunction, Peripheral axonal neuro...	ORPHA:98771
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Distal lower limb amyotrophy, Decreased number of peripheral myelinated nerve fibers, Optic disc ...	ORPHA:320406
Developmental And Epileptic Encephalopathy 37	Cerebellar atrophy, Rigidity, Chorea, Cerebral atrophy, Cogwheel rigidity, Choreoathetosis, Hyper...	OMIM:616981
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Increased mito...	ORPHA:263297
3-Methylglutaconic Aciduria, Type Iii	Optic atrophy	OMIM:258501
Huntington Disease-Like 1	Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai...	ORPHA:157941
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Bradykinesia...	ORPHA:329284
Leber Congenital Amaurosis	Encephalocele, Abnormality of retinal pigmentation, Abnormal electroretinogram, Abnormal optic di...	ORPHA:65
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Retinal detachment, Delayed CNS myelination, Cerebral palsy, Ataxia, Posteriorly rotated ears, De...	OMIM:619833
Verheij Syndrome	Branchial cyst, Ventricular septal defect, Short stature, Short neck, Growth delay, Intrauterine ...	OMIM:615583
Ravine Syndrome	Spasticity, Ataxia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brain...	ORPHA:99852
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Gliosis, Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:614498
Urocanic Aciduria	Action tremor, Ataxia, Truncal ataxia, Gait ataxia	ORPHA:210128
Early-Onset X-Linked Optic Atrophy	Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy	ORPHA:98890
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:617836
X-Linked Charcot-Marie-Tooth Disease Type 1	Tremor, Ataxia, Impaired pain sensation	ORPHA:101075
Barth Syndrome	Dilated cardiomyopathy, Abnormal mitochondrial morphology, Skeletal myopathy, Gait disturbance, E...	OMIM:302060
Glutaric Acidemia I	Rigidity, Hydrocephalus, Delayed myelination, Spastic diplegia, Opisthotonus, Choreoathetosis, La...	OMIM:231670
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Involuntary movements, Inability to walk, Large earlobe, Lateral ventricle dilatation, Elevated c...	OMIM:615716
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Short stature	OMIM:609166
Craniodiaphyseal Dysplasia	Optic atrophy	ORPHA:1513
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Spinocerebellar Ataxia 11	Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun...	OMIM:604432
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Gliosis	OMIM:105550
Adrenomyeloneuropathy	Peripheral axonal degeneration, Cerebral dysmyelination, Atrophy/Degeneration involving the corti...	ORPHA:139399
Den Hoed-De Boer-Voisin Syndrome	Lower limb spasticity, Ventriculomegaly, EEG with focal spike waves, Ventricular septal defect, A...	OMIM:619229
D-2-Hydroxyglutaric Aciduria 1	Delayed CNS myelination, Cerebral visual impairment, Hypsarrhythmia, Subependymal cysts, Cardiomy...	OMIM:600721
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Delayed CNS myelination, Lower limb spasticity, A...	OMIM:616881
X-Linked Mandibulofacial Dysostosis	Short stature, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morphology	ORPHA:1131
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Extrapyramidal muscular rigidity, Action tremor, Inability to walk, Unsteady ...	ORPHA:93952
Stxbp1-Related Encephalopathy	Ataxia, Tremor, Spastic tetraplegia, Dystonia, Spasticity	ORPHA:599373
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Cognitive Impairment With Or Without Cerebellar Ataxia	Cerebellar atrophy, Ataxia, Optic nerve hypoplasia, Amblyopia, Dysmetria, Gait ataxia	OMIM:614306
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Delayed CNS myelination, Parietal cortical atrophy, Sensorineural hearing impairment, Lateral ven...	OMIM:620075
Lipoyltransferase 1 Deficiency	Cerebellar atrophy, Elevated hepatic transaminase, Delayed CNS myelination, Spastic tetraparesis,...	OMIM:616299
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Impaired vibratio...	OMIM:159550
Spinocerebellar Ataxia Type 2	Postural tremor, Parkinsonism, Kinetic tremor, Olivopontocerebellar hypoplasia, Chorea, Cerebella...	ORPHA:98756
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Delayed CNS myelination, Dandy-Walker malformation, Spastic tetraparesis, Cerebral atrophy, Spast...	OMIM:616154
Aicardi-Goutieres Syndrome 4	Cerebellar atrophy, Elevated hepatic transaminase, Hydrocephalus, Cerebral atrophy, Leukodystroph...	OMIM:610333
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar atrophy, Dilated fourth ventricle, Pericarditis, Cerebellar vermis hypoplasia, Ataxia,...	OMIM:212065
Brunet-Wagner Neurodevelopmental Syndrome	Cerebellar atrophy, Optic atrophy, Cerebral atrophy	OMIM:619690
Autosomal Recessive Spastic Paraplegia Type 55	Skeletal muscle atrophy, Onion bulb formation, Lower limb spasticity, Optic neuropathy, Tibialis ...	ORPHA:320375
Fatty Acyl-Coa Reductase 1 Deficiency	Cerebellar atrophy, Spastic tetraparesis, Inability to walk, Macrotia, Dandy-Walker malformation	ORPHA:438178
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l...	ORPHA:94124
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Eyelid myoclonus	OMIM:616421
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigidity, Dysmetria,...	OMIM:618090
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration	OMIM:602271
Severe Intellectual Disability And Progressive Spastic Paraplegia	Cerebellar atrophy, Waddling gait, Facial hypotonia, Amblyopia, Babinski sign, Spastic dysarthria...	ORPHA:280763
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Increased intramyocellula...	OMIM:612016
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Multiple joint contractures, Vestibular areflexia, Babinski sign, Dysmetria, Gait ataxia, Progres...	ORPHA:504476
Bilateral Generalized Polymicrogyria	Cerebral visual impairment, Spastic tetraplegia, Eyelid myoclonus, Lateral ventricle dilatation, ...	ORPHA:208447
Autosomal Recessive Spastic Paraplegia Type 78	Cerebellar atrophy, Skeletal muscle atrophy, Peripheral axonal neuropathy, Babinski sign, Abnorma...	ORPHA:513436
Epilepsy, Familial Adult Myoclonic, 1	Tremor	OMIM:601068
Leukoencephalopathy With Ataxia	Chorioretinal atrophy, Retinoschisis, Choroidal neovascularization, Optic neuropathy	OMIM:615651
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive	Cerebellar atrophy	OMIM:615596
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Myopia, Cerebral palsy, Cupped ear, Small thenar eminence, Lateral ventricle dilatation, Hyperton...	OMIM:618914
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Delayed CNS myelination, Retinal pigment epithelial mottling, Elevated urinary aminoisobutyric ac...	OMIM:614105
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Akinesia, Tremor, Red-green dyschromatopsia, Limb ataxia, Gait ataxia, Hand t...	ORPHA:98764
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Segmental peripheral demyelination/remyelination, Abnormality of Krebs cycle metabolism, ...	ORPHA:255210
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic at...	ORPHA:98768
Spinocerebellar Ataxia, Autosomal Recessive 15	Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia	OMIM:615705
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Macular coloboma, Severe demyelination of the white matter, Atrophy of the spinal cord, H...	ORPHA:79282
Immunodeficiency 83, Susceptibility To Viral Infections	Gliosis	OMIM:613002
Episodic Ataxia Type 6	Cerebellar atrophy, Ataxia, Vertigo, Diplopia, Slurred speech, Reduced visual acuity, Photophobia...	ORPHA:209967
Dystonia 7, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu...	OMIM:602124
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Cerebellar atrophy, Torticollis, Head titubation, Abnormal pyramidal sign, Limb ataxia, CNS hypom...	OMIM:617560
Leber Congenital Amaurosis 16	Optic disc pallor	OMIM:614186
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Dilated fourth ventricle, Optic disc pallor, Optic nerve hypoplasia, Hypoplasia of the pons, Sens...	OMIM:300749
Developmental And Epileptic Encephalopathy 93	Cerebellar atrophy, Spastic tetraparesis, Inability to walk, Optic atrophy, Cerebral atrophy, Hyp...	OMIM:618012
Congenital Disorder Of Glycosylation, Type Id	Cerebellar atrophy, Spastic tetraparesis, Macrotia, Flexion contracture, Optic atrophy, Cerebral ...	OMIM:601110
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Acute hepatic failure, Elevated hepatic transaminase, Ataxia, Cerebral visual...	OMIM:203700
Spinocerebellar Ataxia 5	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme...	OMIM:600224
Monomelic Amyotrophy	Tremor, Fasciculations	ORPHA:65684
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Retinal detachment, Myopia, Blindness, Optic nerve hypoplasia, Hypoplasia o...	OMIM:615181
Spinocerebellar Ataxia, Autosomal Recessive 27	Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gait disturb...	OMIM:618369
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Cerebellar atrophy, Ataxia, Inability to walk, Gait ataxia, Increased variability in muscle fiber...	OMIM:617915
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Cerebellar atrophy, Spastic ataxia, Peripheral axonal neuropathy, Spinal muscular atrophy, Spasti...	ORPHA:496756
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Neuroectodermal Melanolysosomal Disease	Macular dystrophy, Optic atrophy, Abnormal optic nerve morphology, Aplasia/Hypoplasia of the macula	ORPHA:33445
Spinocerebellar Atrophy With Pupillary Paralysis	Spinocerebellar atrophy	OMIM:183100
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Diplopia, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadoc...	ORPHA:352403
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Ataxia, Impaired pain sensation	ORPHA:101078
Warburg Micro Syndrome 4	Cerebellar atrophy, Decreased motor nerve conduction velocity, Decreased muscle mass, Decreased t...	OMIM:615663
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor	OMIM:619738
Spinocerebellar Ataxia 42	Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm...	OMIM:616795
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Blindness, Abnormal retinal vascular morphology, Sensorineur...	ORPHA:791
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic disc pallor, Optic atrophy	OMIM:612989
Combined Saposin Deficiency	Optic atrophy	OMIM:611721
Developmental And Epileptic Encephalopathy 48	Cerebellar atrophy, Optic disc pallor, Cerebral atrophy, Hypsarrhythmia, Rod-cone dystrophy, Limb...	OMIM:617276
Episodic Ataxia, Type 6	Cerebellar atrophy, Vertigo, Diplopia, Slurred speech, Photophobia, Hemiparesis, Cerebellar hypop...	OMIM:612656
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia	OMIM:618049
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, He...	ORPHA:139485
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Developmental And Epileptic Encephalopathy 95	Multiple joint contractures, Cardiomegaly, Hypoplasia of the pons, Cerebral visual impairment, Th...	OMIM:618143
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Sensorineural hearing impairment, Lateral ventricle dilatation, Gait ...	ORPHA:488627
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Retinal Dystrophy And Microvillus Inclusion Disease	Optic disc pallor	OMIM:619446
Spinocerebellar Ataxia, Autosomal Recessive 14	Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent...	OMIM:615386
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Myoclonus	OMIM:613608
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Dysmetria, Hypomimic face	ORPHA:320385
Choreoacanthocytosis	Caudate atrophy, Peroneal muscle atrophy, Chorea, Hypertonia, Muscle fiber atrophy, Loss of ambul...	ORPHA:2388
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ventricular septal defect, Optic disc hyp...	OMIM:619306
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Visual loss, Babinski sign, Spasticity,...	ORPHA:247234
Developmental And Epileptic Encephalopathy 14	Gliosis	OMIM:614959
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Bradykinesia,...	OMIM:261640
Joubert Syndrome 15	Exencephaly	OMIM:614464
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Myopia, Abnormal electroretinogram, Abnormality of retinal pigmentation, Facial palsy	ORPHA:2743
Developmental And Epileptic Encephalopathy 16	Optic atrophy	OMIM:615338
Retinitis Pigmentosa 45	Bone spicule pigmentation of the retina, Nyctalopia, Abnormal electroretinogram, Peripheral visua...	OMIM:613767
Neurodegeneration With Brain Iron Accumulation 4	Cerebellar atrophy, Abnormal lower motor neuron morphology, Scapular winging, Ataxia, Parkinsonis...	OMIM:614298
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Lower limb spasticity, Ata...	OMIM:617193
Spinocerebellar Ataxia 27B, Late-Onset	Cerebellar atrophy, Postural tremor, Vertigo, Diplopia, Limb ataxia, Gait ataxia	OMIM:620174
Methionine Adenosyltransferase I/Iii Deficiency	CNS demyelination, Peripheral demyelination	OMIM:250850
Pontocerebellar Hypoplasia, Type 2A	Optic atrophy, Gliosis	OMIM:277470
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
Wolfram-Like Syndrome	Peripheral axonal neuropathy, Optic atrophy	ORPHA:411590
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Molybdenum Cofactor Deficiency, Complementation Group B	Diffuse cerebral atrophy, Molybdenum cofactor deficiency, Spastic tetraplegia, Cerebral atrophy, ...	OMIM:252160
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, High myopia, Photopho...	OMIM:613464
Superficial Siderosis	Enlarged sylvian cistern, Impaired temperature sensation, Abnormal pyramidal sign, Dysmetria, Pro...	ORPHA:247245
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer...	OMIM:607346
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Ventriculomegaly, Agenesis of cerebellar vermis, Myopia, Hypoplasia of the po...	OMIM:613153
Spinocerebellar Ataxia, Autosomal Recessive 26	Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady...	OMIM:617633
Pontocerebellar Hypoplasia, Type 2B	Cerebellar atrophy, Cerebellar vermis hypoplasia, Clonus, Cerebral visual impairment, Chorea, Bab...	OMIM:612389
Amaurosis-Hypertrichosis Syndrome	Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy	ORPHA:1021
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa...	OMIM:607080
Cog8-Cdg	Cerebellar atrophy, Skeletal muscle atrophy, Chronic axonal neuropathy, Elevated hepatic transami...	ORPHA:95428
Spastic Paraplegia 20, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Abnormal cerebellum morphology, Flexion contracture, B...	OMIM:275900
Autosomal Recessive Ataxia, Beauce Type	Cerebellar atrophy, Skeletal muscle atrophy, Impaired vibratory sensation, Chronic axonal neuropa...	ORPHA:88644
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia...	OMIM:614575
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Myopia, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cere...	OMIM:617435
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Filippi Syndrome	Cerebellar atrophy, Ventricular septal defect, Cryptorchidism, Optic atrophy, Visual impairment	OMIM:272440
Branchiootic Syndrome 3	Branchial cyst	OMIM:608389
Peroxisome Biogenesis Disorder 5A (Zellweger)	Elevated gamma-glutamyltransferase level, Atrial septal defect, Agenesis of corpus callosum, Elev...	OMIM:614866
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Blindness, Large hyperpigmented retina...	OMIM:193235
Developmental And Epileptic Encephalopathy 99	Cerebellar atrophy, Delayed CNS myelination, Multifocal epileptiform discharges, Eyelid myoclonus...	OMIM:619606
Pontocerebellar Hypoplasia, Type 4	Gliosis	OMIM:225753
Gordon Holmes Syndrome	Cerebellar atrophy, Chorea, Ataxia, Cerebral atrophy	OMIM:212840
Zaki Syndrome	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Cupped e...	OMIM:619648
Slc39A8-Cdg	Cerebellar atrophy, Inability to walk, Decreased activity of mitochondrial complex IV, Elbow flex...	ORPHA:468699
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Corpus callosum atrophy, Cryptorchidism, Cerebral atrophy, Lateral ventricle dilatation, Low-set ...	OMIM:619244
Developmental And Epileptic Encephalopathy 31B	Appendicular spasticity, Clonus, Involuntary movements, Optic atrophy, Hypsarrhythmia, Opisthoton...	OMIM:620352
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebellar atrophy, Amblyopia, Cryptorchidism, Cerebral atrophy, Macrotia, Ventriculomegaly	OMIM:619797
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Right hemiplegia, Diffuse cerebral atrophy, Ataxia, Tremor, Visual loss, Sens...	OMIM:607426
Spinocerebellar Ataxia 10	Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal ...	OMIM:603516
Neuropathy, Congenital Hypomyelinating, 3	Cerebellar atrophy, Decreased motor nerve conduction velocity, Limb joint contracture, Hearing im...	OMIM:618186
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia	OMIM:618637
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia	ORPHA:250972
Spinocerebellar Ataxia 36	Cerebellar atrophy, Skeletal muscle atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, ...	OMIM:614153
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Blindness, Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Spinocere...	ORPHA:95433
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To	Nonarteritic anterior ischemic optic neuropathy	OMIM:258660
Chromosome Xp11.3 Deletion Syndrome	Moderate myopia, Constriction of peripheral visual field, Blindness, Short stature, Undetectable ...	OMIM:300578
Developmental And Epileptic Encephalopathy 42	Ataxia, Tremor, Flexion contracture, Athetosis, Hypertonia	OMIM:617106
Huntington Disease	Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Neuronal loss in central nervous...	OMIM:143100
Congenital Disorder Of Glycosylation, Type Iih	Cerebellar atrophy, Ataxia, Elevated circulating aspartate aminotransferase concentration, Interf...	OMIM:611182
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Rigidity, Chorea, A...	ORPHA:98759
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Delayed CNS myelination, Cerebral atrophy, Hypertonia, Cerebellar hemisphere ...	OMIM:615095
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Reduced visual acuity, Nummular pigmentation of the fund...	OMIM:613835
Spinocerebellar Ataxia 44	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent fall...	OMIM:617691
Neuromuscular Oculoauditory Syndrome	Posteriorly rotated ears, Decreased nerve conduction velocity, Chorioretinal lacunae, Retinal pig...	OMIM:618733
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Cerebellar atrophy, Ataxia, Dysesthesia, Head titubation, Abnormal pyramidal sign, Cerebral atrop...	ORPHA:527497
Fanconi Anemia, Complementation Group I	Myopia, Ventricular septal defect, Optic nerve hypoplasia, Conductive hearing impairment, Agenesi...	OMIM:609053
Usher Syndrome	Abnormality of retinal pigmentation, Abnormal vestibular function, Myopia, Ataxia, Blindness, Sen...	ORPHA:886
Weaver Syndrome	Delayed CNS myelination, Diastasis recti, Cryptorchidism, Macrotia, Slurred speech, Hydrocele tes...	OMIM:277590
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Cerebellar atrophy, Broad-based gait, Ataxia, Sensorineural hearing impairment, Diplopia, Dysmetria	OMIM:618098
Isolated Atp Synthase Deficiency	Cerebellar atrophy, Blindness, Ataxia, Sensorineural hearing impairment, Dilated cardiomyopathy, ...	ORPHA:254913
Congenital Disorder Of Glycosylation, Type Ie	Elevated hepatic transaminase, Ataxia, Ankle flexion contracture, Cerebral visual impairment, Tre...	OMIM:608799
Mitochondrial Complex I Deficiency, Nuclear Type 27	Optic atrophy	OMIM:618248
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Optic atrophy, Chorioretinal coloboma	ORPHA:1473
Epilepsy, Progressive Myoclonic, 6	Tremor, Ataxia, Myoclonus	OMIM:614018
Spastic Ataxia 4, Autosomal Recessive	Optic atrophy	OMIM:613672
Myopathy With Extrapyramidal Signs	Elevated hepatic transaminase, Peripheral axonal neuropathy, Ventricular septal defect, Ataxia, C...	OMIM:615673
Holoprosencephaly 5	Hydrocephalus, Macrotia, Lateral ventricle dilatation	OMIM:609637
Abetalipoproteinemia	Ataxia, CNS demyelination, Retinopathy, Peripheral demyelination, Retinal degeneration	OMIM:200100
15Q11.2 Microdeletion Syndrome	Dilated fourth ventricle, Ventricular septal defect, Ataxia, Abnormal pinna morphology, Poor coor...	ORPHA:261183
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Lower limb spasticity, Cerebral visual impairment, Delayed myelination, Flexion ...	OMIM:300868
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor...	ORPHA:101
Fatty Acid Hydroxylase-Associated Neurodegeneration	Cerebellar atrophy, Atrophy of the spinal cord, Progressive spastic paraparesis, Upper motor neur...	ORPHA:329308
Sclerosteosis	Optic atrophy, Facial palsy	ORPHA:3152
X-Linked Charcot-Marie-Tooth Disease Type 2	Distal lower limb amyotrophy, Optic disc pallor, Decreased motor nerve conduction velocity, Tibia...	ORPHA:101076
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity	OMIM:608768
Paganini-Miozzo Syndrome	Posteriorly rotated ears, High myopia, Lateral ventricle dilatation, Microtia, Low-set ears	OMIM:301025
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia	ORPHA:284271
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Blindness, Delayed CNS myelination, Protruding ear, Colpocephaly, Cerebellar hypoplasia	OMIM:618731
Developmental And Epileptic Encephalopathy 65	Cerebellar atrophy, EEG with burst suppression, Cerebral atrophy, Hypsarrhythmia, Spasticity, Ven...	OMIM:618008
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	OMIM:264470
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation, Progressive spasticity	OMIM:619972
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome	Cerebellar atrophy, Atrophy of the spinal cord, Babinski sign, Cerebral atrophy, Sensory ataxia, ...	ORPHA:445062
Spinocerebellar Ataxia, Autosomal Recessive 20	Cerebellar atrophy, Ataxia, Inability to walk, Sensorineural hearing impairment, Babinski sign, M...	OMIM:616354
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Optic nerve hypoplasia, Dysplastic corpus callosum, Flexion contracture, Abno...	OMIM:614833
Hereditary Methemoglobinemia	Cerebellar atrophy, Delayed myelination, Temporal cortical atrophy, Spastic tetraplegia, Spastici...	ORPHA:621
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Ataxia, Poor motor co...	ORPHA:363400
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Optic atrophy, Sensory axonal neuropathy	ORPHA:329314
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Ataxia, Unstea...	ORPHA:457279
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ventricular septal defect, Dextrotransposition of the great arteries, Ankle clonus, Lower limb hy...	OMIM:619995
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Joubert Syndrome 30	Cerebellar atrophy, Dandy-Walker malformation, Retinal dystrophy, Reduced visual acuity, Superior...	OMIM:617622
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation, Cryptorchidism, Sensorineural hearing im...	ORPHA:3085
Pontocerebellar Hypoplasia, Type 1D	Cerebellar atrophy, Multiple joint contractures, Flexion contracture, Cerebral atrophy, Generaliz...	OMIM:618065
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Cerebellar atrophy, Delayed CNS myelination, Facial hypotonia, Amblyopia, Cryptorchidism, Promine...	OMIM:618659
Craniodiaphyseal Dysplasia, Autosomal Dominant	Papilledema, Facial diplegia, Optic atrophy	OMIM:122860
Congenital Disorder Of Glycosylation, Type Iin	Cerebellar atrophy, Inability to walk, Cerebral atrophy, Cerebellar vermis atrophy, Hearing impai...	OMIM:616721
Van Buchem Disease	Optic atrophy from cranial nerve compression	OMIM:239100
Aminoacylase 1 Deficiency	Cerebellar atrophy, Delayed CNS myelination, Sensorineural hearing impairment, Cerebral atrophy, ...	OMIM:609924
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Myopia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Nyctalopia, Ab...	ORPHA:1390
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Babinski sign, Dysmetria, Dysdia...	OMIM:618356
Marinesco-Sjogren Syndrome	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Centrally nucleated skeletal muscle fibers, ...	OMIM:248800
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Posteriorly rotated ears, Hydrocephalus, Sensorineural hearing impai...	OMIM:615219
Spinocerebellar Ataxia 34	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Abnormal pyramidal sign, Limb ataxia, G...	OMIM:133190
Developmental And Epileptic Encephalopathy 98	Cerebellar atrophy, EEG with burst suppression, Cerebral atrophy	OMIM:619605
Hermansky-Pudlak Syndrome	Myopia, Amblyopia, Ocular albinism, Photophobia, Abnormal optic nerve morphology, Abnormality of ...	ORPHA:79430
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly, Decreased liver function, Low-set ears	OMIM:614870
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Optic atrophy	OMIM:619470
Spastic Ataxia 3, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Loss of ambulation, Spasticit...	OMIM:611390
Gabriele-De Vries Syndrome	Waddling gait, Delayed CNS myelination, Facial hypotonia, Posteriorly rotated ears, Tremor, Crypt...	OMIM:617557
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Pontocerebellar Hypoplasia, Type 1B	Cerebellar atrophy, Skeletal muscle atrophy, Retinal dystrophy, Flexion contracture, Cerebral atr...	OMIM:614678
Pontocerebellar Hypoplasia, Type 2E	Cerebellar atrophy, Flexion contracture, Optic atrophy, Spastic tetraplegia, Cerebral atrophy, Op...	OMIM:615851
Peho Syndrome	Cerebellar atrophy, External ear malformation, Visual loss, Hydrocephalus, Flexion contracture, O...	ORPHA:2836
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebellar atrophy, Hypertyrosinemia, Delayed CNS myelination, Elevated hepatic transaminase, Ata...	OMIM:124000
Glut1 Deficiency Syndrome 2	Tremor, Ataxia, Choreoathetosis, Dystonia	OMIM:612126
Spinocerebellar Ataxia Type 29	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb...	ORPHA:208513
Neuropathy, Hereditary Sensory, Type Ie	Decreased number of peripheral myelinated nerve fibers, Ataxia, Sensorineural hearing impairment,...	OMIM:614116
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro...	ORPHA:423275
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Optic atrophy	OMIM:613151
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bicuspid aortic valve, Clonus, Protruding ear, Hypertonia, Leukodystrophy, Chorioretinal coloboma...	OMIM:619475
Alpha-Mannosidosis, Adult Form	Cerebellar atrophy, Optic disc pallor, Mixed hearing impairment, Myopia, Ataxia, Clumsiness, Macr...	ORPHA:309288
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Trem...	OMIM:606002
Trigeminal Neuralgia	Somatic sensory dysfunction, Cranial nerve compression, Paresthesia, CNS demyelination, Periphera...	ORPHA:221091
Autosomal Recessive Spastic Paraplegia Type 39	Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Spastic paraplegia, Babins...	ORPHA:139480
Developmental And Epileptic Encephalopathy 44	Cerebellar atrophy, Delayed CNS myelination, Cerebral atrophy, Athetosis, Spasticity	OMIM:617132
Pelizaeus-Merzbacher Disease	Broad-based gait, Ataxia, Cerebral dysmyelination, Tremor, Sudanophilic leukodystrophy, Inability...	OMIM:312080
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys...	ORPHA:70594
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Cryptorchidism, Severe postnatal growth retardation	ORPHA:435938
Spastic Paraplegia 51, Autosomal Recessive	Cerebellar atrophy, Decreased muscle mass, Facial hypotonia, Amblyopia, Inability to walk, Flexio...	OMIM:613744
X-Linked Intellectual Disability, Wilson Type	Hydrocele testis, Lateral ventricle dilatation, Delayed myelination	ORPHA:85290
Episodic Ataxia Type 1	Cerebellar atrophy, Vertigo, Diplopia, Poor coordination, Clumsiness, Choreoathetosis, Calf muscl...	ORPHA:37612
Perrault Syndrome 1	Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Spastic diplegia, Gait ataxia, Inte...	OMIM:233400
Leber Optic Atrophy	Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy	OMIM:535000
Leber Optic Atrophy And Dystonia	Optic atrophy, Leber optic atrophy	OMIM:500001
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Limb joint contracture, Hearing impairment, Tre...	OMIM:620327
Mitochondrial Complex I Deficiency, Nuclear Type 7	Optic atrophy	OMIM:618229
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cerebellar atrophy, Cryptorchidism, Chorea, Inability to walk, Cerebral atrophy, Gait ataxia, Spa...	OMIM:618917
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi...	ORPHA:101112
Spinocerebellar Ataxia, Autosomal Recessive 7	Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Dysmetr...	OMIM:609270
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Optic atrophy	ORPHA:352682
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Cerebellar atrophy, Myopia, Ataxia, Inability to walk, Optic atrophy, Dysmetria, CNS hypomyelinat...	OMIM:619576
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Cerebellar atrophy, Inability to walk, Sensorineural hearing impairment, Optic atrophy, Abnormali...	OMIM:614739
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Optic disc pallor, Ataxia, Tendon xanthomatosis, Babinski sign, Abnormal pyra...	OMIM:213700
Meckel Syndrome, Type 10	Dilated fourth ventricle, Abnormal pinna morphology, Cerebellar hypoplasia, Camptodactyly, Dandy-...	OMIM:614175
Spinocerebellar Ataxia Type 19/22	Cerebellar atrophy, Broad-based gait, Ataxia, Diplopia, Poor coordination, Slurred speech, Limb a...	ORPHA:98772
Ataxia-Oculomotor Apraxia 3	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Dysmetria, Distal sensory impairment, D...	OMIM:615217
Developmental And Epileptic Encephalopathy 67	Cerebellar atrophy, Hypsarrhythmia, Athetosis, EEG abnormality, Gait disturbance	OMIM:618141
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Spasticity, Choreoathetosis, Joint ...	OMIM:617664
Branchiootic Syndrome 1	Branchial fistula	OMIM:602588
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Optic atrophy	ORPHA:1528
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cerebellar dysplasia, Myopia, Ventriculomegaly, Retinal atrophy, Retinal degeneration, Hydrocepha...	OMIM:253280
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg...	OMIM:606693
Dihydropyrimidine Dehydrogenase Deficiency	Optic atrophy	OMIM:274270
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Myelin ...	ORPHA:99956
Salt And Pepper Developmental Regression Syndrome	Optic atrophy	OMIM:609056
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin...	OMIM:618877
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Cerebellar atrophy, Clonus, Babinski sign, Optic atrophy, Progressive cerebellar ataxia, EEG abno...	OMIM:618868
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni...	OMIM:619725
East Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Inability to walk, Sensorineural hearin...	ORPHA:199343
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Bilateral cryptorchidism, Dysplastic corpus callosum, Macrotia, Sensorineural hearing impairment,...	ORPHA:544488
Ataxia-Telangiectasia-Like Disorder 1	Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,...	OMIM:604391
Weiss-Kruszka Syndrome	Ventricular septal defect, Bicuspid aortic valve, Hearing impairment, Cupped ear, Dextrotransposi...	OMIM:618619
Cog7-Cdg	Cerebellar atrophy, Elevated hepatic transaminase, Jaundice, Abnormal heart morphology, Subcortic...	ORPHA:79333
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Inability to walk, Flexion contracture, Optic atrophy, Spastic t...	OMIM:618651
X-Linked Charcot-Marie-Tooth Disease Type 5	Tremor, Paraparesis, Ataxia, Impaired pain sensation	ORPHA:99014
Leber Congenital Amaurosis 7	Photophobia, Undetectable electroretinogram, Visual impairment	OMIM:613829
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Amblyopia, Inability to walk, Cerebral atrophy, Lateral ventricle dila...	ORPHA:464738
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Flexion contracture, Babinski sign, Spast...	OMIM:300055
Spastic Paraplegia 2, X-Linked	Optic atrophy	OMIM:312920
Spinocerebellar Ataxia Type 21	Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor...	ORPHA:98773
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Skeletal muscle atrophy, Abnormal peripheral myelination, Testicular dysgenesis, Steppage gait, A...	ORPHA:168563
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Bicuspid aortic valve, Mitral atresia, Ataxia, Tremor, Partial agen...	OMIM:220111
Diencephalic Syndrome	Optic atrophy	ORPHA:1672
Severe Early-Childhood-Onset Retinal Dystrophy	Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ...	ORPHA:364055
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Cerebellar atrophy, Ataxia, Gait disturbance, Protruding ear	ORPHA:85317
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Myoclonus, T...	OMIM:137440
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Secundum atrial septal defect, Lateral ventricle dilatation, Cereb...	OMIM:617397
Papillorenal Syndrome	Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio...	OMIM:120330
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Glaucoma, Primary Closed-Angle	Increased cup-to-disc ratio	OMIM:618880
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cerebellar atrophy, Delayed CNS myelination, Ataxia, Hearing impairment, Cerebral visual impairme...	OMIM:619580
Familial Paroxysmal Ataxia	Torticollis, Ataxia, Vertigo, Diplopia, Hemiplegia, Tinnitus, Cerebellar vermis atrophy	ORPHA:97
Autosomal Recessive Malignant Osteopetrosis	Abnormal pulmonary valve morphology, Tremor, Hydrocephalus, Otitis media, Abnormality of visual e...	ORPHA:667
16Q24.3 Microdeletion Syndrome	Myopia, Ventricular septal defect, Optic nerve hypoplasia, Cryptorchidism, Dilated cardiomyopathy...	ORPHA:261250
Cerebellar Atrophy With Seizures And Variable Developmental Delay	Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Cerebellar vermis atrophy	OMIM:618501
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Ventricular septal defect, Hydrocephalus, Sensorineural hearing impairment, Hypermetropia, Chiari...	OMIM:619575
Pick Disease Of Brain	Gliosis	OMIM:172700
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Hydrocephalus, Abnormal pyramidal sign, Spasticity, Palatal tremor	ORPHA:363717
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss	ORPHA:178509
Fragile X Tremor/Ataxia Syndrome	Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti...	OMIM:300623
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor	OMIM:614307
Spinocerebellar Ataxia With Epilepsy	Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys...	ORPHA:254881
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Decreased nerve conduction velocity, Optic atrophy, Abnormal peripheral action potential amplitud...	ORPHA:457205
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
Xeroderma Pigmentosum, Complementation Group B	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment...	OMIM:610651
Developmental And Epileptic Encephalopathy 61	Optic atrophy	OMIM:617933
Leukoencephalopathy With Vanishing White Matter 5	Loss of ambulation, Lateral ventricle dilatation, Dilated third ventricle	OMIM:620315
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Tremor, Limb fasciculations, Somatic sensory dysfunction, Distal sensory impairment	ORPHA:90117
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Cerebral palsy, Delayed myelination, Flexion contracture, Poor gross motor coordination, Hypsarrh...	ORPHA:2148
Developmental And Epileptic Encephalopathy 5	Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, CNS hypomyelination, Hypsarrhythmia, A...	OMIM:613477
Dworschak-Punetha Neurodevelopmental Syndrome	Peripheral axonal neuropathy, Optic disc hypoplasia, Dysplastic corpus callosum, Cupped ear, Larg...	OMIM:619955
Spinocerebellar Ataxia 29	Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Limb ...	OMIM:117360
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Cerebellar atrophy, Decreased motor nerve conduction velocity, Sensorineural hearing impairment, ...	OMIM:616192
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia	OMIM:233910
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines...	ORPHA:391411
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Central scotoma, Nyctalopia, Progressive visual field defects, ...	ORPHA:52427
Hengel-Maroofian-Schols Syndrome	Cerebellar atrophy, Bicuspid aortic valve, Foot joint contracture, Inability to walk, Cerebral at...	OMIM:619641
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Cerebellar atrophy, Interictal EEG abnormality, Cerebral visual impairment, Delayed myelination, ...	ORPHA:544503
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Cerebellar atrophy, Delayed CNS myelination, Exaggerated startle response, Cerebral visual impair...	OMIM:618367
Juvenile Glaucoma	Optic neuropathy, Central scotoma, Peripheral visual field loss, High myopia, Retinal arterial oc...	ORPHA:98977
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Bainbridge-Ropers Syndrome	Posteriorly rotated ears, Cryptorchidism, Inability to walk, Hypermetropia, Contracture of the pr...	OMIM:615485
Lymphatic Malformation 2	Lymphedema	OMIM:611944
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me...	ORPHA:240085
Noonan Syndrome 14	Scapular winging, Posteriorly rotated ears, Cryptorchidism, Mitral valve prolapse, Lateral ventri...	OMIM:619745
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Short stature	ORPHA:50815
Bilateral Polymicrogyria	Cerebellar atrophy, Ventriculomegaly, Spastic tetraparesis, Spastic hemiparesis, Sensorineural he...	ORPHA:268940
Combined Oxidative Phosphorylation Deficiency 14	Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, EEG abnormality, Aminoaciduria, M...	OMIM:614946
Spinocerebellar Ataxia 32	Cerebellar atrophy, Azoospermia, Ataxia, Testicular atrophy	OMIM:613909
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Gliosis	OMIM:604218
Adducted Thumbs Syndrome	Myelin-dependent gliosis	OMIM:201550
Usher Syndrome Type 2	Myopia, Ataxia, Scotoma, Visual loss, Sensorineural hearing impairment, Abnormal electroretinogra...	ORPHA:231178
Gillespie Syndrome	Cerebellar atrophy, Ataxia, Postural tremor, Slurred speech, Cerebellar hypoplasia, Truncus arter...	OMIM:206700
Hsd10 Disease	Ataxia, Tremor, Rigidity, Choreoathetosis, Myoclonus, Spastic paraparesis	ORPHA:391417
Mitochondrial Complex I Deficiency, Nuclear Type 14	Optic atrophy	OMIM:618236
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Cerebellar vermis hypoplasia, Knee flexion contracture, Cer...	OMIM:616531
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Optic atrophy	ORPHA:254343
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Cerebral dysmyelination, Hypoplasia of the pons, Abnormal cerebellu...	ORPHA:101070
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Ataxia, Tendon xanthomatosis, Impaired proprioception, Dysmetria, Clumsiness,...	OMIM:277460
Spinocerebellar Ataxia Type 32	Cerebellar atrophy, Progressive cerebellar ataxia, Azoospermia, Testicular atrophy	ORPHA:276183
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Cerebellar atrophy, Myopia, Delayed CNS myelination, Posteriorly rotated ears, Nyctalopia, High m...	OMIM:617763
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Kaya-Barakat-Masson Syndrome	Cerebellar atrophy, Cerebral visual impairment, Spastic tetraplegia, Cerebral atrophy, CNS hypomy...	OMIM:619125
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Myopathy, Hypertrophic cardiomyopathy, Abnormality of the mitochondrion	ORPHA:91130
Wildervanck Syndrome	Pseudopapilledema, Facial palsy	ORPHA:3456
White-Sutton Syndrome	Cerebellar atrophy, Myopia, Delayed CNS myelination, Blindness, Facial hypotonia, Posteriorly rot...	ORPHA:468678
Retinitis Pigmentosa 74	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Spinocerebellar Ataxia Type 42	Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, V...	ORPHA:458803
Aniridia 2	Optic atrophy	OMIM:617141
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Distal lower limb amyotrophy, Abnormal pinna morphology, Tremor, Cryptorchidism, Cerebellar vermi...	OMIM:300354
Lissencephaly 6 With Microcephaly	Cerebellar atrophy, Partial agenesis of the corpus callosum, Spasticity, Macrotia, Ventriculomega...	OMIM:616212
Jaberi-Elahi Syndrome	Appendicular spasticity, Myopia, Broad-based gait, Tremor, Inability to walk, Optic atrophy, Dysm...	OMIM:617988
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Distal amyotrophy, Gait di...	OMIM:612020
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Cerebellar atrophy, Ataxia, Elevated urinary N-acetylaspartic acid level, Dysmetria	OMIM:618384
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Ataxia, Anteverted ears, Inability to walk, Multifocal epileptiform discharges, Dysmetria, Hyperm...	OMIM:618087
Arima Syndrome	Dilated fourth ventricle, Blindness, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia,...	OMIM:243910
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Gliosis	OMIM:221820
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Cerebellar atrophy, Ventricular septal defect, Posteriorly rotated ears, Spastic tetraparesis, Lo...	OMIM:618506
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Ataxia, Dysmetria, Titubation	OMIM:619405
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Conductive hearing impairment, Atrial septal defect, Thickened helices, Ag...	OMIM:607872
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Tremor, Vertigo, Diplopia, Dysmetria, Gait ataxia, Hemiparesis, Transient uni...	OMIM:602481
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Dysplastic tricuspid valve, Cupped ear, Mitral valve prolapse, Right ventricular d...	OMIM:612863
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Optic atrophy	ORPHA:477814
Van Den Bosch Syndrome	Choroideremia, Abnormal electroretinogram, High myopia	ORPHA:3417
Spinocerebellar Ataxia 6	Cerebellar atrophy, Incoordination, Ataxia, Vertigo, Slurred speech, Dysmetria, Progressive cereb...	OMIM:183086
Combined Oxidative Phosphorylation Deficiency 51	Optic atrophy	OMIM:619057
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Short stature, Abnormal electroretinogram, Optic atrophy, De...	ORPHA:1173
Takenouchi-Kosaki Syndrome	Cerebellar atrophy, Ataxia, Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impai...	OMIM:616737
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Ventricular septal defect, Camptodactyly of finger, Congenital diap...	ORPHA:1692
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Cerebellar atrophy, Myopia, Ankle flexion contracture, Inability to walk, Cerebral atrophy, Bilat...	OMIM:617802
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m...	ORPHA:453499
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neu...	OMIM:300894
Stt3B-Cdg	Cerebellar atrophy, Cryptorchidism, Optic atrophy	ORPHA:370924
Spinocerebellar Ataxia Type 10	Cerebellar atrophy, Lower limb spasticity, Kinetic tremor, Unsteady gait, Babinski sign, Dysmetri...	ORPHA:98761
Sarcosinemia	Optic atrophy	ORPHA:3129
Congenital Disorder Of Glycosylation, Type Iil	Cerebellar atrophy, Elevated hepatic transaminase, Ventricular septal defect, Hydrocephalus, Opti...	OMIM:614576
Adenylosuccinase Deficiency	Cerebellar atrophy, Skeletal muscle atrophy, Inability to walk, Cerebral atrophy, Gait ataxia, CN...	OMIM:103050
Congenital Disorder Of Glycosylation, Type Ix	Cerebellar atrophy, Cryptorchidism, Optic atrophy	OMIM:615597
Developmental And Epileptic Encephalopathy 28	Rigidity, Delayed myelination, Abnormal electroretinogram, Optic atrophy, Cerebral atrophy, Spast...	OMIM:616211
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Hydrocephalus, Sensorineural hearing impairment, Agenesis of...	OMIM:109120
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Pain insensitivi...	OMIM:256810
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Tremor, Failure to thrive, Babinski sign, Spastic paraplegia	ORPHA:477673
Spinocerebellar Ataxia 21	Cerebellar atrophy, Delayed CNS myelination, Ataxia, Parkinsonism, Postural tremor, Akinesia, Lim...	OMIM:607454
Aicardi Syndrome	Retinal detachment, Delayed CNS myelination, Cerebellar vermis hypoplasia, Chorioretinal lacunae,...	OMIM:304050
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Absent brainstem auditory responses, Lower limb spasticity, Foot j...	ORPHA:90321
Developmental And Epileptic Encephalopathy 51	Cerebellar atrophy, Skeletal muscle atrophy, Delayed CNS myelination, Corpus callosum atrophy, In...	OMIM:617339
Coenzyme Q10 Deficiency, Primary, 5	Cerebellar atrophy, Cerebral atrophy, Hypertonia, Left ventricular hypertrophy, Decreased level o...	OMIM:614654
Hypermanganesemia With Dystonia 2	Cerebellar atrophy, Limb joint contracture, Parkinsonism, Tremor, Inability to walk, Achilles ten...	OMIM:617013
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Abnormal electroretinogram, Optic atrophy, Visual impairment	ORPHA:1154
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Amblyopia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Hypermetropia...	OMIM:618060
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Hydrocephalus, M...	ORPHA:1908
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Cerebellar atrophy, Delayed CNS myelination, Cerebellar vermis hypoplasia, Posteriorly rotated ea...	OMIM:618590
Combined Oxidative Phosphorylation Deficiency 37	Cerebellar atrophy, Elevated hepatic transaminase, Chorioretinal hyperpigmentation, Sensorineural...	OMIM:618329
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Optic disc pallor, Cerebellar vermis hypoplasia, Double inlet left vent...	OMIM:619869
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Myopia, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Visual loss, Nyct...	ORPHA:5
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami...	ORPHA:99750
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Overriding aorta, Bicus...	ORPHA:477817
Spinocerebellar Ataxia 26	Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia	OMIM:609306
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopia, Abnormal electroretinogram	ORPHA:1369
Neuronal Intranuclear Inclusion Disease	Tremor, Somatic sensory dysfunction, Ataxia, Rigidity	OMIM:603472
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebellar atrophy, Myopia, Waddling gait, Speech apraxia, Ataxia, Elevated hepatic transaminase,...	OMIM:615356
Schindler Disease, Type I	Optic atrophy	OMIM:609241
Intellectual Developmental Disorder, Autosomal Recessive 68	Cerebellar atrophy, Hydrocephalus, Protruding ear	OMIM:618302
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Cerebellar atrophy, Unsteady gait, Ataxia, Protruding ear	OMIM:300861
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Abnormal electroretinogram, Retinal degeneration	OMIM:617173
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Opisth...	OMIM:607483
Congenital Disorder Of Glycosylation, Type Iii	Cerebellar atrophy, Truncal ataxia, Cerebral atrophy, Atrophy/Degeneration affecting the brainste...	OMIM:613612
Renal Coloboma Syndrome	Optic disc coloboma, Retinal coloboma, Optic nerve dysplasia	ORPHA:1475
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Optic atrophy, Motor axonal neuropathy, Sensory axonal neuropathy	OMIM:609541
Combined Oxidative Phosphorylation Deficiency 3	Ataxia, Optic neuropathy, Tremor, Rhabdomyolysis, Dilated cardiomyopathy, Concentric hypertrophic...	OMIM:610505
Cockayne Syndrome	Skeletal muscle atrophy, Abnormal electroretinogram, Photophobia, Congenital contracture, Progres...	ORPHA:191
Arthrogryposis, Distal, Type 2A	Cerebellar atrophy, Hip contracture, Flexion contracture of finger, Shoulder flexion contracture,...	OMIM:193700
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Ataxia, Unsteady gait, Gait disturbance, Aplasia/Hypoplasia of the cerebellum	ORPHA:2585
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia, Dystonia	OMIM:619911
Mitochondrial Complex I Deficiency, Nuclear Type 8	Optic disc pallor	OMIM:618230
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	OMIM:614251
Sporadic Creutzfeldt-Jakob Disease	Gliosis, Astrocytosis	ORPHA:204
Late-Onset Retinal Degeneration	Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr...	ORPHA:67042
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Tremor, Babinski ...	OMIM:128100
Papilloma Of Choroid Plexus	Papilledema	OMIM:260500
Episodic Ataxia, Type 2	Abnormal vestibular function, Vertigo, Diplopia, Progressive cerebellar ataxia, Paresthesia, Epis...	OMIM:108500
Saccharopinuria	Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia	ORPHA:3124
Scholte Syndrome	Cerebellar atrophy, Abnormal pyramidal sign, Decreased testicular size	OMIM:300977
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity	Cherry red spot of the macula, Optic disc pallor	OMIM:615281
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Posteriorly rota...	OMIM:618598
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy	OMIM:614229
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine	Cerebellar atrophy, Progressive cerebellar ataxia	OMIM:618412
Atypical Rett Syndrome	Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Limb myoclonus, Gait ataxia, Pi...	ORPHA:3095
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Chorea, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Cerebral atroph...	OMIM:610217
Spinocerebellar Ataxia 47	Ataxia, Chorea, Diplopia, Dysmetria, Low-set ears, Spasticity, Cerebellar vermis atrophy	OMIM:617931
Madras Motor Neuron Disease	Optic atrophy, Facial palsy	ORPHA:137867
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, Abnormal retinal morphology, Patent foramen ovale, Low-set ears, Atrial septa...	ORPHA:89844
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Skeletal muscle atrophy, Limb joint contracture, Ataxia, Postural tremor, Cer...	OMIM:301072
Liang-Wang Syndrome	Cerebellar atrophy, Macroglossia, Ataxia, Cerebral atrophy	OMIM:618729
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Chorea, Axonal loss, Athetosis, EEG abnormality, Myoclonus, Oculomotor apraxia, Cerebellar atroph...	ORPHA:404454
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Cerebellar atrophy, Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Partial abs...	ORPHA:329224
Neuronal Intranuclear Inclusion Disease	Optic atrophy	ORPHA:2289
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Optic atrophy	OMIM:248000
Leukodystrophy, Hypomyelinating, 19, Transient Infantile	Optic atrophy	OMIM:618688
White Sponge Nevus 2	Edema	OMIM:615785
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Head titubation, Optic atrophy, Reduced visua...	OMIM:619708
Short Stature-Micrognathia Syndrome	Cerebellar atrophy, Myopia, Ventricular septal defect, Ataxia, Cryptorchidism, Gait ataxia, Skele...	OMIM:617164
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus	OMIM:619092
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Ventricular septal defect, Bicuspid aortic valve, Moderately reduced visual acuity, Cryptorchidis...	ORPHA:500159
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Optic atrophy, Cerebral hypomyelination, Tet...	ORPHA:496641
Huppke-Brendel Syndrome	Cerebellar atrophy, Inability to walk, Cerebral atrophy, CNS hypomyelination, Hearing impairment	OMIM:614482
Spinocerebellar Ataxia Type 7	Cerebellar atrophy, Cone/cone-rod dystrophy, Somatic sensory dysfunction, Blindness, Ataxia, Visu...	ORPHA:94147
Optic Pathway Glioma	Papilledema, Neurofibroma, Optic atrophy	ORPHA:2086
Riboflavin Transporter Deficiency	Optic disc pallor, Facial palsy, Abnormality of macular pigmentation, Abnormal autonomic nervous ...	ORPHA:97229
Sneddon Syndrome	Tremor, Chorea, Hemiparesis	ORPHA:820
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Corpus callosum atrophy, Delayed myelination, Sensorineural hearing impairmen...	OMIM:248500
Enhanced S-Cone Syndrome	Nyctalopia, Macular edema, Hemeralopia, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis,...	OMIM:268100
Leukodystrophy, Hypomyelinating, 20	Cerebellar atrophy, Torticollis, Babinski sign, Spastic tetraplegia, Hypertonia	OMIM:619071
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Facial palsy	OMIM:615085
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy	OMIM:268315
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Ataxia, Blepharospasm, Myoclonus	OMIM:607876
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Parkinsonism, Lateral ventricle dilatation, Apraxia, Neuronal loss in central nervous system, Cer...	OMIM:607485
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru...	ORPHA:247815
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Dystonia, Spasticity	ORPHA:542310
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Posteriorly rotated ears, Cerebellar vermis atrophy, Cerebral atrophy, CNS hypomyelination, Low-s...	OMIM:615760
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Multiple joint contractures, Hypoplasia of the pons, Abnormal pyramidal sign, Knee flexion contra...	ORPHA:468631
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2801
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Galloway-Mowat Syndrome 2, X-Linked	Cerebellar atrophy, Cerebral atrophy, Spasticity, Dysmetria	OMIM:301006
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu...	OMIM:616586
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Optic atrophy, Lateral ventricle dilatation, Progressive visual loss, Optic nerve ...	OMIM:612301
Isolated Complex I Deficiency	Optic disc pallor, Blindness, Ataxia, Optic neuropathy, Sensorineural hearing impairment, Leukody...	ORPHA:2609
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Multiple lipomas, Dysto...	ORPHA:765
Amish Nemaline Myopathy	Tremor, Hip contracture, Shoulder flexion contracture	ORPHA:98902
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Elevated hepatic transaminase, Decreased muscle mass, Cerebral dysmyelination...	OMIM:261515
Spinocerebellar Ataxia 4	Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb...	OMIM:600223
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor	OMIM:619170
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Cerebral atrophy, Congenital contracture, Colpocephaly, Low-set ears, Agenesis of ...	OMIM:620156
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Macrotia, Flexion contracture, Loss of abili...	OMIM:300243
Spinocerebellar Ataxia, Autosomal Recessive 28	Optic atrophy	OMIM:618800
Coenzyme Q10 Deficiency, Primary, 2	Optic atrophy	OMIM:614651
Plaa-Associated Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Exaggerated startle response, Rigidity, Delayed myelination, S...	ORPHA:521426
Familial Infantile Bilateral Striatal Necrosis	Basal ganglia gliosis, Optic atrophy, Astrocytosis	ORPHA:225154
Branchiootic Syndrome	Branchial fistula	ORPHA:52429
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor	ORPHA:3173
Developmental And Epileptic Encephalopathy 46	Tremor, Failure to thrive, Limb hypertonia	OMIM:617162
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Decreased muscle mass, Abnormal electroretinogram, Hypermetr...	OMIM:108145
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Cerebellar atrophy, Delayed CNS myelination, Ataxia, Posteriorly rotated ears, Involuntary moveme...	OMIM:617804
Holoprosencephaly	Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Hydroc...	ORPHA:2162
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Hydrocephalus, Abnormal electroretinogram, Reduced visual acuity, Nasofrontal ...	OMIM:614195
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:598500
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cryptorchidism, Jaundice, Optic nerve dysplasia, Abnormal heart morphology, Pigmentary retinopath...	OMIM:214110
Osteopetrosis, Autosomal Recessive 4	Optic disc pallor, Optic atrophy, Facial palsy	OMIM:611490
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Ataxia, Congenital diaphragmatic hernia, Sensorineural hearing impairment, Un...	OMIM:615919
Trichothiodystrophy	Multiple joint contractures, Partial agenesis of the corpus callosum, Abnormal pyramidal sign, Ga...	ORPHA:33364
Cystathioninuria	Tremor	ORPHA:212
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Optic disc pallor, Cerebellar vermis hypoplasia, Ataxia, Cryptorchidism, Inability to walk, Colpo...	OMIM:620083
Microcephaly, Amish Type	Hypoplasia of the fovea, Optic atrophy	OMIM:607196
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal...	OMIM:618056
Spinocerebellar Ataxia Type 8	Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Rigidity, Unste...	ORPHA:98760
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat...	OMIM:619574
Chromosome 19P13.13 Deletion Syndrome	Optic atrophy, Optic nerve hypoplasia	OMIM:613638
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Ataxia, Abnormal electroretinogram, Aplasia/Hypoplasia of th...	ORPHA:578
Mevalonic Aciduria	Cerebellar atrophy, Optic disc pallor, Elevated hepatic transaminase, Agenesis of cerebellar verm...	OMIM:610377
Alpha-Mannosidosis, Infantile Form	Cerebellar atrophy, Communicating hydrocephalus, Optic disc pallor, Mixed hearing impairment, Fac...	ORPHA:309282
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Retinal dystrophy	ORPHA:49827
Leber Congenital Amaurosis 15	Attenuation of retinal blood vessels, Myopia, Optic disc pallor, Constriction of peripheral visua...	OMIM:613843
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g...	OMIM:265300
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Optic atrophy, Retinal degeneration	OMIM:249270
Leukodystrophy, Hypomyelinating, 22	Optic disc pallor	OMIM:619328
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Cerebellar atrophy, Ataxia, Cerebral visual impairment, Babinski sign, Multifocal epileptiform di...	OMIM:615398
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Myopia, Progressive ventriculomegaly, Optic nerve hypoplasia, Cerebral visual impairment, Dysplas...	ORPHA:500150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Ventriculomegaly, Retinal atrophy, Myopia, Optic nerve hypoplasia, Blindness,...	OMIM:236670
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Cerebellar atrophy, Delayed CNS myelination, Cerebral atrophy, Leukodystrophy	OMIM:620269
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait...	ORPHA:282166
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Macular degenerati...	OMIM:619780
Helsmoortel-Van Der Aa Syndrome	Posteriorly rotated ears, Facial palsy, Cryptorchidism, Cupped ear, Hypermetropia, Mitral valve p...	OMIM:615873
Ddost-Cdg	Tremor, Failure to thrive, Oromotor apraxia, Lipodystrophy	ORPHA:300536
Woods Syndrome	Optic atrophy	OMIM:615236
Congenital Muscular Dystrophy, Fukuyama Type	Optic atrophy, Retinal dysplasia	ORPHA:272
Kanzaki Disease	Peripheral axonal neuropathy, Sensorineural hearing impairment, Axonal degeneration, Vertigo, Cer...	OMIM:609242
Angioedema, Hereditary, 1	Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration	OMIM:106100
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Constriction of periphera...	ORPHA:71505
Arts Syndrome	Optic atrophy	OMIM:301835
Bor Syndrome	Branchial cyst	ORPHA:107
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:44
Mitochondrial Complex I Deficiency, Nuclear Type 18	Optic disc pallor	OMIM:618240
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling	OMIM:619649
Non-Specific Early-Onset Epileptic Encephalopathy	Abnormality of coordination, Ataxia, Involuntary movements, Tremor, Rigidity, Myoclonus, Spastici...	ORPHA:442835
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Cerebellar atrophy, Elevated hepatic transaminase, Abnormality of the ear, Cerebral atrophy, Pigm...	OMIM:268020
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot...	OMIM:616959
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Cerebellar atrophy, Elevated circulating aspartate aminotransferase concentration, Bilateral cryp...	OMIM:619685
Short Stature, Microcephaly, And Endocrine Dysfunction	Ventriculomegaly, Broad-based gait, Ataxia, Cryptorchidism, Sensorineural hearing impairment, Dil...	OMIM:616541
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cerebellar atrophy, Delayed CNS myelination, Bicuspid aortic valve, Ventricular septal defect, Pa...	OMIM:620066
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Cerebellar atrophy, Ataxia, Cerebral visual impairment, Inability to walk, Delayed myelination, U...	OMIM:618443
X-Linked Intellectual Disability, Najm Type	Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma	ORPHA:163937
Coloboma, Ocular, Autosomal Recessive	Optic disc coloboma, Retinal coloboma	OMIM:216820
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Gliosis	OMIM:608033
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Ventricular septal defect, Dysplastic corpus callosum, Partial agenesis of th...	OMIM:619103
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Cerebellar atrophy, Cerebral atrophy, CNS hypomyelination, Low-set ears, Spasticity	OMIM:619286
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula	OMIM:113650
Biotinidase Deficiency	Diffuse cerebral atrophy, Ataxia, Visual loss, Sensorineural hearing impairment, Optic atrophy, D...	OMIM:253260
Congenital Disorder Of Glycosylation, Type Il	Cerebellar atrophy, Delayed CNS myelination, Pericardial effusion, Abnormal cardiac septum morpho...	OMIM:608776
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Parkinsonism, Tremor, Obesity	ORPHA:3077
Lissencephaly, X-Linked, 2	Gliosis	OMIM:300215
Spastic Paraplegia Type 2	Optic atrophy	ORPHA:99015
Alg1-Cdg	Cerebellar atrophy, Cerebral atrophy, Abnormal heart morphology, Cardiomyopathy, Decreased liver ...	ORPHA:79327
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Ventricular septal defect, Posteriorly rotated ears, Cryptorchidism, Sensorine...	OMIM:214100
Prader-Willi Syndrome Due To Translocation	Myopia, Cerebral visual impairment, Hypermetropia, Abnormal heart morphology, Lateral ventricle d...	ORPHA:177907
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Optic atrophy, Cataplexy, Spasticity	OMIM:604121
Joubert Syndrome 25	Oculomotor apraxia, Abnormal electroretinogram, Ataxia, Cerebellar hypoplasia	OMIM:616781
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Khan-Khan-Katsanis Syndrome	Cerebellar vermis hypoplasia, Sensorineural hearing impairment, Pigmentary retinopathy, Colpoceph...	OMIM:618460
Sneddon Syndrome	Tremor, Atrophic scars, Hemiplegia, Impaired distal tactile sensation	OMIM:182410
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Posteriorly rotated ears, Underdeveloped antitragus, Choroid plexus cyst, Hypsarrhythmia, Promine...	ORPHA:293725
Autosomal Dominant Optic Atrophy And Cataract	Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Blindness, Ataxia, Extrapyramida...	ORPHA:67036
O'Sullivan-Mcleod Syndrome	Tremor, Somatic sensory dysfunction, Fasciculations	ORPHA:99965
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Posteriorly rotated ears, Flexion contracture, Lateral ventricle dilatation, Low-set ears, Dysgen...	OMIM:619479
Intellectual Developmental Disorder, X-Linked 12	Gliosis	OMIM:300957
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality...	OMIM:613280
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor	OMIM:613730
Achromatopsia 2	Hypoplasia of the fovea, Retinal thinning, Absent foveal reflex, Peripapillary atrophy, Dull fove...	OMIM:216900
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Flexion contracture, Knee ...	OMIM:210710
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Cerebellar atrophy, Hearing impairment, Cerebral visual impairment, Cerebral atrophy, CNS hypomye...	OMIM:618922
Distal 22Q11.2 Microdeletion Syndrome	Branchial fistula, Ventricular septal defect, Short stature, Growth delay, Atrial septal defect, ...	ORPHA:261330
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Fasciculations	OMIM:313200
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Gliosis	ORPHA:457240
Galloway-Mowat Syndrome 1	Cerebellar atrophy, Ventriculomegaly, Ataxia, Macrotia, Optic atrophy, Spastic tetraplegia, Cereb...	OMIM:251300
3-Methylglutaconic Aciduria, Type I	Optic atrophy	OMIM:250950
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Ventricular septal defect, Retinal dystrophy, Hypermetropia, Latera...	OMIM:263520
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:216866
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar atrophy, Myopia, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spastic diplegia, Spast...	OMIM:300966
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Cerebellar atrophy, Elevated hepatic transaminase, Facial palsy, Cerebral visual impairment, Limb...	OMIM:610131
Triple A Syndrome	Optic atrophy, Motor axonal neuropathy	ORPHA:869
Isolated Posterior Meningocele	Limitation of neck motion, Meningocele, Lipomyelomeningocele, Hydrocephalus, Neural tube defect, ...	ORPHA:268810
Familial Infantile Myoclonic Epilepsy	Cerebellar atrophy, Interictal EEG abnormality, EEG with focal spike waves, Ataxia, Clumsiness, B...	ORPHA:352582
3-Methylglutaconic Aciduria Type 7	Cerebellar atrophy, Elevated hepatic transaminase, Abnormal pyramidal sign, Cerebral atrophy, Opi...	ORPHA:445038
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Cerebellar atrophy, Posteriorly rotated ears, Congenital diaphragmatic hernia, Amblyopia, Tremor,...	OMIM:614080
Cadds	Cerebellar atrophy, Sensorineural hearing impairment, Ventriculomegaly, Elevated hepatic transami...	ORPHA:369942
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Tremor, Hip contracture, Shoulder flexion contracture	OMIM:605355
Spontaneous Periodic Hypothermia	Tremor, Ataxia	ORPHA:29822
Friedreich Ataxia 2	Impaired vibratory sensation, Abnormal medulla oblongata morphology, Ataxia, Incoordination, Babi...	OMIM:601992
Cimdag Syndrome	Cerebellar vermis hypoplasia, Ataxia, Retinal dystrophy, Chorea, Sensorineural hearing impairment...	OMIM:619273
Maternal Uniparental Disomy Of Chromosome 6	Abnormal electroretinogram, Hydrocele testis, Progressive visual loss, Intrauterine growth retard...	ORPHA:96181
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Low-set, posteriorly rotated ears, Ventricular septal defect, Bilateral...	ORPHA:434179
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop...	OMIM:607060
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Chorioretinal dysplasia, Chorioretinal lacunae, Optic atrophy, Retinal fold	OMIM:152950
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Dysdiadochokinesis, Peripheral hypo...	OMIM:612780
Idiopathic Intracranial Hypertension	Papilledema	ORPHA:238624
Linear Skin Defects With Multiple Congenital Anomalies 3	Myopia, Dilated cardiomyopathy, Lateral ventricle dilatation, Histiocytoid cardiomyopathy, Agenes...	OMIM:300952
Oligomeganephronia	Branchial cyst, Hypertension	ORPHA:2260
Galloway-Mowat Syndrome 9	Cerebellar atrophy, Choreoathetosis, Low-set ears, Macrotia, Cerebral cortical atrophy, Ventricul...	OMIM:619603
Neurodegeneration And Seizures Due To Copper Transport Defect	Cerebellar atrophy, Cardiomegaly, Cerebral visual impairment, Cerebral atrophy, Ventriculomegaly,...	OMIM:620306
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m...	ORPHA:352665
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Gliosis	ORPHA:3240
Spinocerebellar Ataxia 27A	Cerebellar atrophy, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abno...	OMIM:193003
Infantile Refsum Disease	Rod-cone dystrophy, Optic atrophy, Facial palsy	ORPHA:772
Congenital Disorder Of Glycosylation, Type Iie	Cerebellar atrophy, Skeletal muscle atrophy, Elevated circulating aspartate aminotransferase conc...	OMIM:608779
Congenital Disorder Of Glycosylation, Type Iim	Delayed CNS myelination, Cerebral atrophy, Hypsarrhythmia, Lateral ventricle dilatation, Cerebell...	OMIM:300896
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Cerebellar atrophy, Amblyopia, Tremor, Partial absence of cerebellar vermis, Delayed myelination,...	ORPHA:280633
Ataxia-Oculomotor Apraxia 4	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Abnormal pyramidal sign, Tetraplegia, A...	OMIM:616267
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Weight loss, Periodic paralysis	OMIM:613239
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2518
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal defect, Protruding ear, ...	OMIM:619534
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cerebellar vermis hypoplasia, Bicuspid aortic valve, Uplifted earlobe, Flexion contracture, Chiar...	ORPHA:261537
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Hydrocephalus, High...	OMIM:309801
Chédiak-Higashi Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation, Somatic sensory dysfunction, Elevated he...	ORPHA:167
Alg3-Cdg	Neural tube defect, Cardiomyopathy	ORPHA:79321
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cerebellar vermis hypoplasia, Bicuspid aortic valve, Uplifted earlobe, Flexion contracture, Chiar...	ORPHA:261552
Hyperostosis Cranialis Interna	Optic atrophy, Facial palsy	OMIM:144755
Meckel Syndrome, Type 1	Dilated fourth ventricle, Ventriculomegaly, Camptodactyly of finger, Cryptorchidism, Hydrocephalu...	OMIM:249000
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebellar atrophy, Torticollis, Neck muscle hypertrophy, Unsteady gait, Limb tremor, Myoclonus, ...	ORPHA:420492
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Delayed CNS myelination, Posteriorly rotated ears, EEG with burst suppression, Hypermetropia, Col...	OMIM:617260
Perry Syndrome	Parkinsonism, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia	OMIM:168605
Bohring-Opitz Syndrome	Myopia, Ventricular septal defect, Posteriorly rotated ears, Delayed peripheral myelination, Flex...	OMIM:605039
Developmental And Epileptic Encephalopathy 4	Tremor, Spastic paraplegia, Choreoathetosis, Spastic tetraplegia	OMIM:612164
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Ventriculomegaly, Agenesis of cerebellar vermis, Blindness, Hydrocep...	OMIM:615287
Spongiform Encephalopathy With Neuropsychiatric Features	Gliosis	OMIM:606688
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe...	ORPHA:240071
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Painless fractures due to injury, Decreased nerve conduction velocity, Decreased sensory nerve co...	OMIM:201300
Norrie Disease	Retinal detachment, Retinal fold, Optic atrophy, Retinal dysplasia	OMIM:310600
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Cerebellar atrophy, Low-set, posteriorly rotated ears, Ventriculomegaly, Hearing impairment, Flex...	ORPHA:487796
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Dilated fourth ventricle, Low-set, posteriorly rotated ears, Ventriculomegaly, Cerebellar vermis ...	ORPHA:480880
Galloway-Mowat Syndrome 6	Cerebellar atrophy, Cerebellar vermis atrophy	OMIM:618347
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Clonus, Patent foramen ovale, Delayed myelination, Cryptorchidism, Lower limb hypertonia, Colpoce...	ORPHA:477993
Trisomy 10P	Decreased muscle mass, Posteriorly rotated ears, Poor motor coordination, Abnormal auditory evoke...	ORPHA:171929
Myopathy, Mitochondrial, And Ataxia	Ataxia, Tremor, Dysmetria, Limb ataxia, Distal sensory impairment, Multiple lipomas, Dysdiadochok...	OMIM:617675
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Ataxia, Tremor, Flexion contracture, Cerebral atrophy, Opisthotonus, Choreoat...	OMIM:616271
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Ventricular septal defect, Hydrocephalus, Low posterior hairline, Tricuspid va...	ORPHA:261337
Combined Oxidative Phosphorylation Deficiency 25	Cerebellar atrophy, Hypoplasia of the pons, Sensorineural hearing impairment, Cerebral atrophy, L...	OMIM:616430
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Positive Romberg s...	OMIM:105210
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Cerebellar atrophy, Delayed CNS myelination, Broad-based gait, Flexion contracture, Abnormal pyra...	OMIM:618891
Bilateral Perisylvian Polymicrogyria	EEG with polyspike wave complexes, EEG with parietal focal spikes, Lower limb spasticity, Cerebel...	ORPHA:98889
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Branchial anomaly	ORPHA:466950
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Short stature, Spinal dysraphism, Hypoplastic left heart, Aortic valve stenosis, Atrial septal de...	OMIM:617660
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:168600
Shukla-Vernon Syndrome	Cerebellar atrophy, Broad-based gait	OMIM:301029
Combined Oxidative Phosphorylation Deficiency 7	Facial diplegia, Facial paralysis, Optic atrophy	OMIM:613559
Mend Syndrome	Abnormal auditory evoked potentials, Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Lo...	ORPHA:401973
Galloway-Mowat Syndrome 10	Cerebellar atrophy, Delayed CNS myelination, Myoclonus, Cerebral atrophy	OMIM:619609
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Knobloch Syndrome 1	Cerebellar atrophy, Optic disc pallor, Retinal detachment, Ataxia, Chorioretinal atrophy, Cerebra...	OMIM:267750
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Chorea, Hepatitis, Spasticity, Ventriculomegaly	ORPHA:1855
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cerebellar dysplasia, Myopia, Partial absence of cerebellar vermis, Hydrocephalus, Hypermetropia,...	OMIM:613150
Leukodystrophy, Progressive, Early Childhood-Onset	Optic disc pallor	OMIM:617762
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Increased c...	ORPHA:447788
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Parkinsonism, Dysesthesia, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Gait disturban...	ORPHA:93256
Hypotonia, Ataxia, And Delayed Development Syndrome	Cerebellar atrophy, Speech apraxia, Pain insensitivity, Cerebellar vermis hypoplasia, Ataxia, Pos...	OMIM:617330
Fuchs Heterochromic Iridocyclitis	Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Chor...	ORPHA:263479
Lymphatic Malformation 6	Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Per...	OMIM:616843
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Posteriorly rotated ears, Pericardial effusion, Hydrocephalus, Hypermetropia, C...	OMIM:617822
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hypop...	OMIM:600501
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Broad-based gait, Cupped ear, Limb ataxia, Low-set ears, Truncal ataxia, Overfolded helix, Cerebe...	OMIM:617101
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Cerebellar atrophy, Hip contracture, Elbow flexion contracture, Cerebral atrophy, Knee flexion co...	OMIM:616266
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Agenesis of corpus call...	OMIM:301043
Aceruloplasminemia	Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Chorea, Limb ataxia, ...	ORPHA:48818
47,Xyy Syndrome	Macroorchidism, Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoospermia, Low-set ears, Dysgen...	ORPHA:8
Stt3A-Cdg	Cerebellar atrophy, Cryptorchidism	ORPHA:370921
Developmental And Epileptic Encephalopathy 89	Cerebellar atrophy, Asymmetry of the ears, EEG with burst suppression, Flexion contracture, Cereb...	OMIM:619124
Niemann-Pick Disease Type C	Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Leukodystrophy, Intention tremo...	ORPHA:646
Cntnap2-Related Developmental And Epileptic Encephalopathy	Lower limb spasticity, Cerebral palsy, Ataxia, Abnormal neuron morphology, EEG with generalized p...	ORPHA:163681
Scalp-Ear-Nipple Syndrome	Posteriorly rotated ears, Underdeveloped antitragus, Anteverted ears, Cardiac myxoma, Cupped ear,...	OMIM:181270
Craniometaphyseal Dysplasia, Autosomal Recessive	Optic atrophy, Facial palsy	OMIM:218400
Osteopetrosis, Autosomal Recessive 9	Papilledema	OMIM:620366
Bardet-Biedl Syndrome	Low-set, posteriorly rotated ears, Skeletal muscle atrophy, Cryptorchidism, Abnormal electroretin...	ORPHA:110
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Exencephaly	ORPHA:2211
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ventricular septal defect, Posteriorly rotated ears, Patent foramen ovale, Partial agenesis of th...	OMIM:620113
Galloway-Mowat Syndrome 3	Cerebellar atrophy, Cerebral atrophy, Spasticity, Low-set ears, Camptodactyly, Visual impairment,...	OMIM:617729
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Cerebellar atrophy, Myopia, Cerebral visual impairment, Multifocal epileptiform discharges, Hyper...	ORPHA:369837
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Tremor, Rigidity, Blepharospasm, Spastic dysarthria, Bradykinesia, Oculomotor apraxia	ORPHA:240094
Severe Oculo-Renal-Cerebellar Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2715
Mucopolysaccharidosis, Type Iiid	Cerebellar atrophy, Achilles tendon contracture, Nyctalopia, Elbow flexion contracture, Asymmetri...	OMIM:252940
Wolfram Syndrome 2	Optic atrophy, Optic neuropathy	OMIM:604928
Holoprosencephaly 14	Cerebellar atrophy, Ventriculomegaly, Ventricular septal defect, Aqueductal stenosis, Partial abs...	OMIM:619895
Intellectual Developmental Disorder, Autosomal Dominant 62	Cerebellar vermis atrophy	OMIM:618793
Anterior Segment Dysgenesis 8	Optic nerve dysplasia	OMIM:617319
Familial Acute Necrotizing Encephalopathy	Gliosis	ORPHA:88619
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho...	ORPHA:64753
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Cerebellar atrophy, Delayed CNS myelination, Reduced visual acuity	OMIM:618541
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Cerebellar atrophy, Ataxia, Achilles tendon contracture, Sensorineural hearing impairment, Dysmet...	OMIM:616263
Keppen-Lubinsky Syndrome	Spastic tetraparesis, Flexion contracture, Opisthotonus, Lateral ventricle dilatation, Hypertonia	OMIM:614098
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebellar atrophy, Myopia, Amblyopia, Retinal arteriolar tortuosity, Hydrocephalus, Babinski sig...	OMIM:175780
Smith-Lemli-Opitz Syndrome	Cerebellar atrophy, Diffuse cerebral atrophy, Ventricular septal defect, Aganglionic megacolon, P...	OMIM:270400
8Q24.3 Microdeletion Syndrome	Branchial cyst, Infancy onset short-trunk short stature, Ventricular septal defect, Short stature...	ORPHA:508488
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Optic atrophy, Pigmentary retinopathy	OMIM:617282
Kleefstra Syndrome Due To A Point Mutation	Gliosis	ORPHA:261652
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Babinski sign, Abnormal pyramidal sign, Impaired vibration sensation in the lower limbs, ...	ORPHA:447753
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:615530
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Cryptorchidism	ORPHA:861
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Natal tooth, Short stature, Atrial septal defect, Intrauterine growth retardation...	OMIM:620186
Progressive Supranuclear Palsy	Gliosis	ORPHA:683
Pelizaeus-Merzbacher Disease, Connatal Form	Gliosis	ORPHA:280210
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Diffuse cerebral atrophy, Ventricular septal defect, Tremor, EEG with burst s...	ORPHA:1934
Wolfram Syndrome 1	Pigmentary retinopathy, Optic atrophy	OMIM:222300
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Hydrocephalus, Flexion contracture, Optic atrophy, Nyc...	OMIM:619321
Dysosteosclerosis	Optic atrophy, Abnormal cranial nerve morphology	ORPHA:1782
Kabuki Syndrome 1	Ventricular septal defect, Posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Protruding ea...	OMIM:147920
Multiple Acyl-Coa Dehydrogenase Deficiency	Gliosis	ORPHA:26791
Oxoglutaric Aciduria	Skeletal muscle atrophy, Ataxia, Abnormality of Krebs cycle metabolism, Hydrocephalus, Hypertonia	ORPHA:31
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Cryptorchidism, Abnormality of the outer ear, Hypermetropia, Protrudi...	OMIM:618820
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Bicuspid aortic valve, Ventricular septal defect, Cryptorc...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Bicuspid aortic valve, Ventricular septal defect, Cryptorc...	ORPHA:353277
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:585
Peroxisome Biogenesis Disorder 4B	Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Retinal dystrophy	OMIM:614863
Chronic Bilirubin Encephalopathy	Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypertonia...	ORPHA:529808
Acute Bilirubin Encephalopathy	Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypertonia...	ORPHA:529799
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
6Q Terminal Deletion Syndrome	Low-set, posteriorly rotated ears, Dysmetria, Gait ataxia, Hypsarrhythmia, Hypermetropia, Colpoce...	ORPHA:75857
Osteopetrosis, Autosomal Recessive 2	Cranial nerve compression, Facial paralysis, Optic atrophy	OMIM:259710
Hereditary Late-Onset Parkinson Disease	Gliosis, Orthostatic hypotension due to autonomic dysfunction	ORPHA:411602
Hereditary Sensory And Autonomic Neuropathy Type 5	Painless fractures due to injury, Decreased number of small peripheral myelinated nerve fibers, P...	ORPHA:64752
Multiple Acyl-Coa Dehydrogenase Deficiency	Gliosis	OMIM:231680
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Ataxia	ORPHA:713
Congenital Fibrosis Of Extraocular Muscles	Abnormal visual field test, Torticollis, Optic nerve hypoplasia, Amblyopia, Levator palpebrae sup...	ORPHA:45358
Stankiewicz-Isidor Syndrome	Abnormal optic disc morphology	OMIM:617516
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Myopia, Ataxia, Cryptorchidism, Hydrocephalus, Abnormal elec...	ORPHA:636
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebellar atrophy, Communicating hydrocephalus, Posteriorly rotated ears, Gait ataxia, Low-set e...	OMIM:617011
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Cerebellar atrophy, Hip contracture, Optic atrophy, Hypermetropia, Knee flexion contracture, Phot...	OMIM:210730
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Gliosis	OMIM:618321
Iniencephaly	Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys...	ORPHA:63259
Alg9-Cdg	Cerebellar atrophy, Low-set, posteriorly rotated ears, Torticollis, Lower limb spasticity, Ventri...	ORPHA:79328
Hyperoxaluria, Primary, Type I	Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, Retinopathy	OMIM:259900
Sympathetic Ophthalmia	Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ...	ORPHA:79098
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia	OMIM:146500
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature	Optic atrophy	OMIM:609037
Parkinson Disease 1, Autosomal Dominant	Gliosis	OMIM:168601
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Lower limb spasticity, Ataxia, Inability to walk, Vocal cord paralysis, Hyper...	OMIM:617799
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Retinal degeneration	OMIM:616896
Peroxisome Biogenesis Disorder 1B	Rod-cone dystrophy, Optic atrophy	OMIM:601539
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Distal amyotrophy, Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neur...	ORPHA:2821
Tyrosinemia Type 2	Tremor, Ataxia	ORPHA:28378
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Phace Association	Increased retinal vascularity, Optic atrophy, Optic nerve hypoplasia, Horner syndrome	OMIM:606519
Sturge-Weber Syndrome	Abnormal retinal vascular morphology, Retinal detachment, Optic atrophy, Abnormal choroid morphology	ORPHA:3205
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Retinal detachment, Abnormal optic chiasm morphology, Gliosis	ORPHA:268261
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Lower limb spasticity, Spastic tetraparesis, Pericardial effusion, Delayed my...	OMIM:615846
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia	ORPHA:1578
Ataxia-Telangiectasia	Ataxia, Tremor, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia, Dysdiadochokinesi...	OMIM:208900
Insensitivity To Pain, Congenital, With Anhidrosis	Decreased number of small peripheral myelinated nerve fibers, Pain insensitivity, Postural hypote...	OMIM:256800
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Abnormal electroretinogram, Hypsarrhythmia, Poor fine motor coordination, Patent foramen ovale, R...	ORPHA:542306
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Intent...	OMIM:254900
Branchiooculofacial Syndrome	Short neck, Postnatal growth retardation, Cryptorchidism, Low posterior hairline, Branchial anoma...	OMIM:113620
3-Methylglutaconic Aciduria, Type Viia	Cerebellar atrophy, Delayed CNS myelination	OMIM:619835
Temtamy Preaxial Brachydactyly Syndrome	Abnormal optic disc morphology, Optic atrophy	ORPHA:363417
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abnormal pyramidal sign, C...	OMIM:234200
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Congenital stationary night blindness, Abnormal optic disc morphology	ORPHA:293967
Turcot Syndrome With Polyposis	Papilledema, Hyperpigmentation of the fundus, Astrocytoma, Glioblastoma multiforme, Glioma, Epire...	ORPHA:99818
9Q33.3Q34.11 Microdeletion Syndrome	Delayed CNS myelination, Abnormal pinna morphology, Spastic tetraparesis, Cryptorchidism, Inabili...	ORPHA:495818
Mitochondrial Complex I Deficiency, Nuclear Type 2	Gliosis	OMIM:618222
Argininemia	Cerebellar atrophy, Progressive spastic quadriplegia, Diaminoaciduria, Spastic paraparesis, Frequ...	OMIM:207800
Lathosterolosis	Intrahepatic cholestasis, Chiari malformation, Myoclonus, Cerebellar cortical atrophy, Hepatic fa...	ORPHA:46059
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Decreased number of large peripheral myelinated nerve fibers, Orthostatic hypotension, Incoordina...	OMIM:223900
Congenital Disorder Of Deglycosylation 1	Decreased sensory nerve conduction velocity, Gliosis	OMIM:615273
Witteveen-Kolk Syndrome	Branchial fistula, Unilateral cryptorchidism, Short stature, Intracranial hemorrhage, Growth dela...	OMIM:613406
Van Esch-O'Driscoll Syndrome	Cerebellar atrophy, Ventricular septal defect, Unilateral vocal cord paralysis, Cerebral atrophy,...	OMIM:301030
Dyskeratosis Congenita, Autosomal Recessive 8	Cerebellar atrophy, Chromosomal breakage induced by crosslinking agents	OMIM:620133
Bardet-Biedl Syndrome 20	Retinal vascular tortuosity, Papilledema, Rod-cone dystrophy	OMIM:619471
Von Hippel-Lindau Disease	Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic islet cell adenoma, Pancrea...	ORPHA:892
Skin Creases, Congenital Symmetric Circumferential, 1	Posteriorly rotated ears, Low-set ears, Overfolded helix, Dandy-Walker malformation, Cerebellar v...	OMIM:156610
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cerebellar atrophy, Ataxia, Cerebral atrophy, Hypertonia, Myoclonus, Spasticity, Global brain atr...	OMIM:618426
Craniofacial Microsomia 1	Occipital encephalocele, Ventricular septal defect, Hydrocephalus, Branchial anomaly, Tetralogy o...	OMIM:164210
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Kenny-Caffey Syndrome, Type 2	Retinal calcification, Papilledema	OMIM:127000
Pineoblastoma	Papilledema, Retinoblastoma	ORPHA:251909
Degcags Syndrome	Ventricular septal defect, Posteriorly rotated ears, Hearing impairment, Cryptorchidism, Sensorin...	OMIM:619488
Genitopatellar Syndrome	Hip contracture, Ventricular septal defect, Cryptorchidism, Knee flexion contracture, Colpocephal...	OMIM:606170
Supranuclear Palsy, Progressive, 1	Gliosis, Astrocytosis	OMIM:601104
Monosomy 22Q13.3	Impaired pain sensation, Hypermetropia, Cerebellar cortical atrophy, Macrotia, Agenesis of corpus...	ORPHA:48652
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Small earlobe, Delayed peripheral myelination, Hearing impairment	ORPHA:364577
Heterotaxy, Visceral, 5, Autosomal	Cerebellar atrophy, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Partial anom...	OMIM:270100
Cutis Laxa, Autosomal Recessive, Type Iid	Gliosis	OMIM:617403
Supranuclear Palsy, Progressive, 2	Gliosis	OMIM:609454
Semilobar Holoprosencephaly	Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect	ORPHA:220386
Alobar Holoprosencephaly	Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect	ORPHA:93926
Lobar Holoprosencephaly	Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect	ORPHA:93924
Diets-Jongmans Syndrome	Gliosis	OMIM:618846
Gabriele-De Vries Syndrome	Gliosis	ORPHA:506358
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Abnormal optic disc morphology, Facial palsy, Retinal coloboma, Optic nerve hypoplasia	ORPHA:508498
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly, Retinal dysplasia	OMIM:601374
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Short neck, Abnormal heart morphology, Neural tube defect, Umbilical h...	ORPHA:798
7Q11.23 Microduplication Syndrome	Abnormal optic disc morphology	ORPHA:96121

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Opa1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Opa1.

No publications found that use IMPC mice or data for Opa1.

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MGI Allele	Allele Type	Produced
Opa1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Opa1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Opa1^em1(IMPC)Bay	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Opa1 MGI:1921393

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Eye Morphology

Eye Morphology

Eye Morphology

MicroCT E9.5

Human diseases caused by Opa1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data