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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	P Value
embryonic lethality prior to tooth bud stage	Opa1^em1(IMPC)Bay	HOM	E12.5	0.00
preweaning lethality, complete penetrance	Opa1^em1(IMPC)Bay	HOM	Early adult	0.00
embryonic growth retardation	Opa1^em1(IMPC)Bay	HOM	E9.5	0.00
abnormal somite shape	Opa1^em1(IMPC)Bay	HOM	E9.5	0.00
decreased prepulse inhibition	Opa1^em1(IMPC)Bay	HET	Early adult	7.86×10^-05
abnormal neural tube morphology	Opa1^em1(IMPC)Bay	HOM	E9.5	0.00
abnormal pharyngeal arch morphology	Opa1^em1(IMPC)Bay	HOM	E9.5	0.00
abnormal embryo size	Opa1^em1(IMPC)Bay	HOM	E9.5	0.00
abnormal embryo turning	Opa1^em1(IMPC)Bay	HOM	E9.5	0.00
abnormal visceral yolk sac morphology	Opa1^em1(IMPC)Bay	HOM	E9.5	0.00
abnormal neural tube closure	Opa1^em1(IMPC)Bay	HOM	E9.5	0.00
abnormal forebrain development	Opa1^em1(IMPC)Bay	HOM	E9.5	0.00
abnormal heart morphology	Opa1^em1(IMPC)Bay	HOM	E9.5	0.00

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

VIP of left fundus

18 Images

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Eye Morphology

VIP of right fundus

18 Images

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Eye Morphology

VIP of right eye

18 Images

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MicroCT E9.5

Embryo reconstruction

5 Images

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Eye Morphology

VIP of left eye

18 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 (1549 diseases)

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

Disease	Matching phenotypes	Source
Optic Atrophy 1	Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Centrocecal scoto...	OMIM:165500
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Spasticity, Abnormal amplitude of pattern reversal visual evoked potentials, Abnor...	OMIM:125250
Autosomal Dominant Optic Atrophy Plus Syndrome	Spastic paraplegia, Optic atrophy, Cardiomyopathy, Constriction of peripheral visual field, Motor...	ORPHA:1215
Behr Syndrome	Optic atrophy, Cerebellar atrophy, Sensory axonal neuropathy, Hypoplastic optic chiasm, Visual im...	OMIM:210000
Autosomal Dominant Optic Atrophy, Classic Form	Spastic paraplegia, Spasticity, Optic atrophy, Cerebellar atrophy, Skeletal muscle atrophy, Color...	ORPHA:98673
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Optic atrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Decreased activity of mitoch...	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	Peripapillary atrophy, Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Cystoid macu...	OMIM:612943
Optic Atrophy 5	Slow decrease in visual acuity, Optic atrophy, Constriction of peripheral visual field, Abnormali...	OMIM:610708
Retinitis Pigmentosa 36	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:610599
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Leber Congenital Amaurosis 13	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:612712
Optic Atrophy 2	Babinski sign, Dysdiadochokinesis, Tremor	OMIM:311050
Auditory Neuropathy And Optic Atrophy	Optic atrophy, Rod-cone dystrophy	OMIM:617717
Autosomal Recessive Spastic Paraplegia Type 74	Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraplegia, Difficulty ...	ORPHA:468661
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Stargardt Disease	Color vision defect, Macular degeneration, Abnormality of macular pigmentation, Retinal pigment e...	ORPHA:827
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Attenuation of retinal blood vessels	OMIM:165510
Optic Atrophy--Spastic Paraplegia Syndrome	Optic atrophy	OMIM:311100
Spastic Paraplegia Type 7	Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Somatic sensory dysfunction, Lower ...	ORPHA:99013
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Sensory axonal neuropathy, Cerebellar vermis atrophy, Dilated fourth ventricle, Decreased activit...	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	Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech	OMIM:160120
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 2	Optic atrophy	OMIM:620569
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Cerebellar vermis hypoplasia, Spasticity, Optic atrophy, Cerebellar atrophy, Abnormal mitochondri...	ORPHA:543470
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Difficulty walking, Incoordination, Distal sensory impairment, Sensorineural hearing impairment, ...	OMIM:302800
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy, Spasticity, Abnormal mitochondrial shape, Cerebellar atrophy, Decreased nerve cond...	ORPHA:485421
Optic Atrophy 8	Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia...	OMIM:616648
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Spastic Paraplegia 79B, Autosomal Recessive	Tetraparesis, Neurodegeneration, Loss of ambulation, Reduced visual acuity, Ataxia, Impaired vibr...	OMIM:615491
Glaucoma 1, Open Angle, P	Increased cup-to-disc ratio	OMIM:177700
Optic Atrophy 9	Optic atrophy, Optic disc pallor	OMIM:616289
Mepan Syndrome	Optic atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Myoclonus, Decreased act...	ORPHA:508093
Optic Atrophy 1	Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Centrocecal scoto...	OMIM:165500
Charcot-Marie-Tooth Disease Type 2B1	Proximal muscle weakness in lower limbs, Distal sensory impairment, Motor axonal neuropathy, Hand...	ORPHA:98856
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Optic atrophy, Decreased phosphoribosylpyrophosphate synthetase level, Distal amyotrophy, Hearing...	OMIM:311070
Intellectual Developmental Disorder And Retinitis Pigmentosa	Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Attention defi...	OMIM:618195
Leber Congenital Amaurosis 19	Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration	OMIM:618513
Friedreich Ataxia	Impaired vibratory sensation, Optic atrophy, Decreased pyruvate carboxylase activity, Decreased a...	OMIM:229300
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Spasticity, Abnormal amplitude of pattern reversal visual evoked potentials, Abnor...	OMIM:125250
Episodic Ataxia With Slurred Speech	Gait ataxia, Tremor, Slurred speech	ORPHA:401953
Canavan Disease	Optic atrophy, Blindness, Abnormality of retinal pigmentation, EEG abnormality, Cognitive impairm...	ORPHA:141
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical...	ORPHA:98769
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Impaired vibratory sensation, Spastic paraparesis, Difficulty walking, Interosseus muscle atrophy...	OMIM:500013
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Distal amyotrophy, Hearing impairment, Decreased nerve condu...	OMIM:601455
Retinitis Pigmentosa 30	Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta...	OMIM:607921
Peroxisome Biogenesis Disorder 8B	Spasticity, Spastic paraparesis, Leukodystrophy, Peripheral demyelination, Loss of ambulation, Cl...	OMIM:614877
Autosomal Dominant Optic Atrophy Plus Syndrome	Spastic paraplegia, Optic atrophy, Cardiomyopathy, Constriction of peripheral visual field, Motor...	ORPHA:1215
Ocular Pigment Dispersion With Or Without Glaucoma	Optic atrophy	OMIM:600510
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity	OMIM:619491
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy	OMIM:215500
Retinitis Pigmentosa 57	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:613582
Retinitis Pigmentosa 71	Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, P...	OMIM:616394
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Increased variability in muscle fiber diameter, Lower limb muscle weakness, Mitochondrial swellin...	ORPHA:397744
Hsd10 Mitochondrial Disease	Optic atrophy, Spasticity, Cerebral cortical atrophy, Hypertrophic cardiomyopathy, Visual loss, S...	OMIM:300438
Late-Infantile/Juvenile Krabbe Disease	Spastic paraparesis, Difficulty walking, Impaired tactile sensation, Loss of ambulation, Tetraple...	ORPHA:206443
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Optic atrophy, Ventriculomegaly, EEG with generalized epileptiform discharges, Cerebellar atrophy...	OMIM:619323
Krabbe Disease	Optic atrophy, Hearing impairment, Neurodegeneration, Decreased nerve conduction velocity, Periph...	OMIM:245200
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Vocal cord paresis, Broad-based gait, Distal amyotrophy, Decreased motor nerve conduction velocit...	OMIM:614895
Intracranial Hypertension, Idiopathic	Papilledema	OMIM:243200
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Distal amyotrophy, Impaired pain sensation, Hand tremor, Difficulty walking, Peripheral demyelina...	OMIM:618279
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Distal amyotro...	OMIM:601596
Subacute Inflammatory Demyelinating Polyneuropathy	Difficulty walking, Peripheral demyelination, Positive Romberg sign, Distal sensory impairment, C...	ORPHA:206594
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
Retinitis Pigmentosa 33	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:610359
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Hearing ...	OMIM:609260
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	EEG with abnormally slow frequencies, EEG with generalized epileptiform discharges, Cerebellar at...	ORPHA:1947
Spinocerebellar Ataxia Type 31	Impaired vibratory sensation, Spasticity, Gait ataxia, Tremor	ORPHA:217012
Spinocerebellar Ataxia Type 43	Distal amyotrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Cogwheel rigidity, Distal...	ORPHA:497764
Nescav Syndrome	Optic atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Cerebellar ve...	OMIM:614255
Lipedema	Edema	OMIM:614103
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction velocity, Decreas...	OMIM:601098
Adult Krabbe Disease	Spasticity, Broad-based gait, Lower limb muscle weakness, Tetraparesis, Peripheral demyelination,...	ORPHA:206448
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Vocal cord paresis, Proximal muscle weakness in lower limbs, Peripheral demyelination, Distal sen...	ORPHA:101097
Spastic Paraplegia 55, Autosomal Recessive	Spastic paraplegia, Optic atrophy, Lower limb muscle weakness, Difficulty walking, Tibialis anter...	OMIM:615035
Spinocerebellar Ataxia 20	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor	OMIM:608687
Foveal Hypoplasia-Presenile Cataract Syndrome	Optic atrophy	ORPHA:2253
Muscular Dystrophy, Congenital, Megaconial Type	Muscular dystrophy, Dilated cardiomyopathy, Increased endomysial connective tissue, Myopathy, Mit...	OMIM:602541
Spastic Ataxia 7, Autosomal Dominant	Optic atrophy	OMIM:108650
Charcot-Marie-Tooth Disease, Type 4A	Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction velocity, Basal l...	OMIM:214400
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Vocal cord paresis, Optic atrophy, Distal amyotrophy, Decreased motor nerve conduction velocity, ...	OMIM:601152
Spinocerebellar Ataxia Type 1	Progressive cerebellar ataxia, Loss of Purkinje cells in the cerebellar vermis, Optic atrophy, Ab...	ORPHA:98755
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Mohr-Tranebjaerg Syndrome	Prelingual sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal pyramidal...	ORPHA:52368
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Spasticity, Tremor, Babinski sign, Ataxia, Flexion contracture	OMIM:611105
Spinocerebellar Ataxia 43	Limb ataxia, Gait ataxia, Tremor, Distal sensory impairment, Rigidity, Ataxia	OMIM:617018
Chronic Inflammatory Demyelinating Polyneuropathy	Abnormal nerve conduction velocity, Falls, Spontaneous pain sensation, Somatic sensory dysfunctio...	ORPHA:2932
Retinitis Pigmentosa 95	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:620102
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Distal amyotrophy, Decreased motor nerve conduction velocity, Tip-toe gait, Fasciculations, Axona...	OMIM:614436
Retinitis Pigmentosa 63	Optic disc pallor, Rod-cone dystrophy	OMIM:614494
Peripheral Cone Dystrophy	Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy	OMIM:609021
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Optic atrophy, Undetectable visual evoked potentials, Hearing impairment, Progressive sensorineur...	OMIM:601338
Retinitis Pigmentosa 81	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617871
2,4-Dienoyl-Coa Reductase Deficiency	Optic atrophy, Spasticity, Ventriculomegaly, Cerebellar atrophy, Hyperlysinuria, Leukodystrophy, ...	OMIM:616034
Ceroid Lipofuscinosis, Neuronal, 11	Optic atrophy, Cerebellar atrophy, EEG with generalized polyspikes, Ataxia, Visual impairment, Re...	OMIM:614706
Null Syndrome	Optic atrophy, CNS hypomyelination, Progressive spastic paraplegia, Difficulty walking, Inability...	ORPHA:280234
Myoclonus, Familial, 1	Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls	OMIM:614937
Primary Dystonia, Dyt27 Type	Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro...	ORPHA:464440
Dystonia 27	Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O...	OMIM:616411
Frontotemporal Dementia With Motor Neuron Disease	Generalized amyotrophy, Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper motor ...	ORPHA:275872
Combined Oxidative Phosphorylation Defect Type 29	Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Retinopathy, Axonal degenera...	ORPHA:478029
Infantile Neuroaxonal Dystrophy	Ataxia, Optic atrophy, Spasticity, Cerebellar atrophy, Increased circulating lactate dehydrogenas...	ORPHA:35069
Charcot-Marie-Tooth Disease Type 4G	Impaired vibratory sensation, Distal amyotrophy, Decreased motor nerve conduction velocity, Impai...	ORPHA:99953
Retinitis Pigmentosa 62	Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re...	OMIM:614181
Pontocerebellar Hypoplasia, Type 1A	Tongue fasciculations, Cerebral cortical atrophy, Distal amyotrophy, Congenital contracture, Late...	OMIM:607596
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Distal amyotrophy, Decreased motor nerve conduction velocity, Limb muscle weakness, Axonal degene...	OMIM:118210
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Vocal cord paresis, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li...	OMIM:607706
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ...	OMIM:614561
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Hypertrophic Neuropathy Of Dejerine-Sottas	Tongue fasciculations, Broad-based gait, Hypertrophic nerve changes, Decreased motor nerve conduc...	OMIM:145900
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Increased mitoc...	ORPHA:457050
Combined Oxidative Phosphorylation Deficiency 29	Optic atrophy, Spasticity, Global brain atrophy, Cerebellar atrophy, Retinopathy, Axonal degenera...	OMIM:616811
Dystonia-Aphonia Syndrome	Abnormal mitochondrial shape, Cerebellar atrophy, Mixed demyelinating and axonal polyneuropathy, ...	ORPHA:412217
Mitochondrial Complex I Deficiency, Nuclear Type 19	Optic atrophy, Ventriculomegaly, Cerebellar atrophy, Inability to walk, Hypertrophic cardiomyopat...	OMIM:618241
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Aminoaciduria, Ventriculomegaly, Skeletal muscle atrophy, Abnormal electroretinogram, Decreased n...	ORPHA:1933
Tremor, Hereditary Essential, 1	Postural tremor, Action tremor, Hand tremor	OMIM:190300
Posterior Column Ataxia With Retinitis Pigmentosa	Broad-based gait, Joint contracture of the hand, Impaired vibration sensation in the lower limbs,...	OMIM:609033
Late Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Abnormal amplitude of flash visual evoked potentials, Reduced visual acuity, EEG with...	ORPHA:168491
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, B...	OMIM:610951
Neurodegeneration With Brain Iron Accumulation 2A	Optic atrophy, Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Neurodegeneration, Decre...	OMIM:256600
Cerebrotendinous Xanthomatosis	Spasticity, Spastic paraparesis, Tendon xanthomatosis, Resting tremor, Abnormal motor evoked pote...	ORPHA:909
Spastic Paraplegia 74, Autosomal Recessive	Optic atrophy, Peripheral axonal neuropathy	OMIM:616451
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction velocity, Hearing...	OMIM:118220
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Spastic paraplegia, Tremor	OMIM:309560
Night Blindness, Congenital Stationary, Type 1G	Optic disc pallor, Rod-cone dystrophy, Congenital stationary night blindness	OMIM:616389
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Charcot-Marie-Tooth Disease, Type 4H	Small hypothenar eminence, Decreased motor nerve conduction velocity, Upper limb muscle weakness,...	OMIM:609311
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Optic Atrophy 3, Autosomal Dominant	Optic atrophy, Optic disc pallor	OMIM:165300
Autosomal Spastic Paraplegia Type 30	Diffuse cerebellar atrophy, Distal amyotrophy, Somatic sensory dysfunction, Progressive spastic p...	ORPHA:101010
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraparesis, Foot dorsi...	ORPHA:496756
Stargardt Disease 1	Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy	OMIM:248200
Autosomal Recessive Progressive External Ophthalmoplegia	Hearing impairment, Dyschromatopsia, Muscle fiber atrophy, Action tremor, Distal sensory impairme...	ORPHA:254886
Spinocerebellar Ataxia Type 25	Diffuse cerebellar atrophy, Impaired pain sensation, Gait ataxia, Distal sensory impairment, Faci...	ORPHA:101111
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Tongue fasciculations, Spasticity, Global brain atrophy, Cerebellar atrophy, Hypoplasia of the po...	OMIM:618276
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Distal amyotrophy, Decreased motor nerve conduction velocity, Tremor, Distal sensory impairment, ...	OMIM:607734
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Nemaline bodies, Distal amyotrophy, Decreased motor nerve conduction velocity, Impaired pain sens...	OMIM:607684
Cone-Rod Dystrophy 17	Optic disc pallor, Cone/cone-rod dystrophy	OMIM:615163
Optic Atrophy 6	Optic atrophy, Retinal degeneration	OMIM:258500
Mitochondrial Complex I Deficiency, Nuclear Type 15	Optic atrophy, Cerebellar atrophy, Hearing impairment, Hypertrophic cardiomyopathy, Myopathy, CNS...	OMIM:618237
Ceroid Lipofuscinosis, Neuronal, 9	Optic atrophy, Rod-cone dystrophy	OMIM:609055
Autosomal Recessive Spastic Paraplegia Type 71	Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait	ORPHA:401840
Retinitis Pigmentosa 50	Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt...	OMIM:613194
Roussy-Levy Hereditary Areflexic Dystasia	Upper limb postural tremor, Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve ...	OMIM:180800
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Distal amyotrophy, Distal sensory impairment, Axonal degeneration, Decreased number of peripheral...	OMIM:606482
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va...	OMIM:619518
Wagner Vitreoretinopathy	Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin...	OMIM:143200
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy	Optic atrophy, Optic disc pallor	OMIM:618511
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction velocity, Periphe...	OMIM:118200
Retinitis Pigmentosa 32	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor...	OMIM:609913
Spinocerebellar Ataxia 1	Spasticity, Optic disc pallor, Progressive cerebellar ataxia, Impaired vibratory sensation, Chore...	OMIM:164400
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber...	OMIM:608340
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Optic atrophy, Elevated gamma-glutamyltransferase level, Cerebellar atrophy, Inability to walk, A...	OMIM:618324
Cach Syndrome	Optic atrophy, Spasticity, Cerebellar atrophy, Lateral ventricle dilatation, Cerebral atrophy, Ce...	ORPHA:135
Episodic Ataxia, Type 8	Ataxia, Slurred speech, Intention tremor, Episodic ataxia	OMIM:616055
Retinitis Pigmentosa 26	Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:608380
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Hand mu...	OMIM:608323
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Night Blindness, Congenital Stationary, Type 1D	Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne...	OMIM:613830
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Ataxia, Spasticity, Cerebellar atrophy, Chiari type I malformation, Babinski sign, Delayed CNS my...	OMIM:619742
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, CNS hypomyelination, Somatic sensory dysfunction, Abnormal m...	ORPHA:320401
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Distal amyotrophy, Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairmen...	OMIM:208920
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic atrophy, Hearing impairment, Difficulty walking, Foot dorsiflexor weakness, Distal sensory ...	OMIM:617087
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal...	OMIM:618138
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
Retinitis Pigmentosa 11	Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,...	OMIM:600138
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Abnormality of retinal pigmentation, Dysmet...	ORPHA:96
Combined Oxidative Phosphorylation Defect Type 27	Upper limb postural tremor, Diffuse cerebellar atrophy, Involuntary movements, Hearing impairment...	ORPHA:477774
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoplasia of the pons, Agenesis of corpus callosum, Abnormal pyramidal sign, Clonus, Hypoglycosy...	ORPHA:370959
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, N...	OMIM:617672
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia	OMIM:618425
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Memory impairment, Abnormal electroretinogram, Nonarteritic anterior ischemic optic neuropathy, V...	OMIM:125310
Angioedema, Hereditary, 6	Facial edema, Edema of the dorsum of hands, Angioedema	OMIM:619363
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxi...	OMIM:614322
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Impaired vibratory sensation, Impaired pain sensation, Peripheral demyelination, Distal lower lim...	OMIM:615185
Intellectual Developmental Disorder, Autosomal Dominant 56	Broad-based gait, Spasticity, Lateral ventricle dilatation, Inability to walk, Myoclonus, Pontoce...	OMIM:617854
Segawa Syndrome, Autosomal Recessive	Myoclonus, Limb dystonia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal motor func...	OMIM:605407
Giant Axonal Neuropathy 2, Autosomal Dominant	Distal amyotrophy, Decreased motor nerve conduction velocity, Cardiomyopathy, Peripheral axonal n...	OMIM:610100
Retinitis Pigmentosa 38	Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy	OMIM:613862
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia	ORPHA:401901
Spinocerebellar Ataxia 40	Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In...	OMIM:616053
Spastic Paraplegia 75, Autosomal Recessive	Optic atrophy, Spasticity, Spastic paraparesis, Ventriculomegaly, Cerebellar atrophy, Distal lowe...	OMIM:616680
Neuropathy, Hereditary, With Liability To Pressure Palsies	Froment sign, Decreased motor nerve conduction velocity, Hand muscle weakness, Hand paresthesia, ...	OMIM:162500
Tremor Of Intention, Ataxia, And Lipofuscinosis	Intention tremor, Ataxia	OMIM:190200
Spinocerebellar Ataxia Type 38	Gait ataxia, Somatic sensory dysfunction, Tremor	ORPHA:423296
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Distal amyotrophy, Difficulty walking, Axonal degeneration/regeneration, Distal sensory impairmen...	OMIM:606483
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Visual loss, Truncal ataxia	OMIM:611726
Spinocerebellar Ataxia 37	Frequent falls, Tremor, Ataxia	OMIM:615945
Spinocerebellar Ataxia, X-Linked 5	Action tremor, Ataxia	OMIM:300703
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy, Cerebellar atrophy, Skeletal muscle atrophy, Difficulty walking, Inability to walk...	ORPHA:330050
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Optic atrophy, Involuntary movements, Distal amyotrophy, Cerebellar atrophy, Hearing impairment, ...	OMIM:271245
Mitochondrial Complex I Deficiency, Nuclear Type 12	Cerebellar atrophy, Progressive sensorineural hearing impairment, Gait imbalance, Myoclonus, Decr...	OMIM:301020
Retinitis Pigmentosa 76	Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede...	OMIM:617123
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Fumarase Deficiency	Aminoaciduria, Optic atrophy, Ventriculomegaly, Intrahepatic cholestasis, Hepatic failure, Mitoch...	OMIM:606812
Multiple Mitochondrial Dysfunctions Syndrome 4	Optic atrophy	OMIM:616370
Optic Atrophy 12	Optic atrophy, Optic disc pallor	OMIM:618977
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Hearing impairment, Incoordination, Neurodegeneration, Parap...	OMIM:615157
Spastic Paraplegia 32, Autosomal Recessive	Spastic paraplegia, Cerebellar atrophy, Lower limb muscle weakness, Cerebral atrophy, Difficulty ...	OMIM:611252
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Ataxia, Impaired vibratory sensation, Distal amyotrophy, Cerebellar atrophy, Decreased motor nerv...	OMIM:607250
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Spasticity, Abnormal motor evoked potentials, Difficulty walking, Mitral valve prolapse, Impaired...	ORPHA:98
Severe X-Linked Intellectual Disability, Gustavson Type	Optic atrophy, Spasticity, Lateral ventricle dilatation, Contractures of the large joints, Macrot...	ORPHA:3078
Spinocerebellar Ataxia, Autosomal Recessive 2	Spasticity, Incoordination, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gai...	OMIM:213200
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Distal amyotrophy, Decreased amplitude of sensory action potentials, Distal sensory impairment, P...	OMIM:608673
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Optic atrophy	OMIM:618572
Primary Dystonia, Dyt13 Type	Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac...	ORPHA:98807
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Skeletal muscle atrophy, Somatic sensory dysfunction, Peripheral demyelination, Limb muscle weakn...	OMIM:620378
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Decreased motor nerve conduction velocity, Cerebral atrophy, Chorea, Peripheral demyelination, Pe...	OMIM:604168
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Foot dorsiflexor weakness, Spin...	OMIM:617207
X-Linked Spinocerebellar Ataxia Type 4	Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia	ORPHA:85292
Autosomal Spastic Paraplegia Type 72	Spastic gait, Postural tremor, Impaired vibration sensation at ankles, Rigidity	ORPHA:401849
Olivopontocerebellar Atrophy-Deafness Syndrome	Optic atrophy, Chorioretinal coloboma	ORPHA:2732
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic atrophy, Optic disc pallor	OMIM:182830
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Increased variability in muscle fiber diameter, Decreased activity of mitochondrial complex IV, R...	ORPHA:17
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Distal amyotrophy, Progressive sensorineural hearing impairment, Peripheral demyelination, Axonal...	OMIM:607736
Oculocutaneous Albinism Type 1	Optic nerve misrouting, Hypoplasia of the fovea, Abnormal morphology of the choroidal vasculature...	ORPHA:352731
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Retinal pigment epithelial mottling, Inability to walk, Cerebellar vermis atr...	OMIM:619389
Retinitis Pigmentosa 88	Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p...	OMIM:618826
Usher Syndrome, Type Iiib	Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye maculopathy	OMIM:614504
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Distal sensory impairment	OMIM:614369
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Spasticity, Lateral ventricle dilatation, Cerebral atrophy, Abnormal upper motor neuron morpholog...	OMIM:221770
Epilepsy, Progressive Myoclonic, 1B	Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia	OMIM:612437
Leukoencephalopathy, Progressive, With Ovarian Failure	Spasticity, Cerebellar atrophy, Lateral ventricle dilatation, Hand tremor, Neurodegeneration, Bab...	OMIM:615889
Charcot-Marie-Tooth Disease, Type 4B2	Distal amyotrophy, Decreased motor nerve conduction velocity, Difficulty walking, Foot dorsiflexo...	OMIM:604563
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Spasticity, Spastic paraparesis, Cerebellar atrophy, Distal amyotrophy, Lower limb muscle weaknes...	ORPHA:313772
Spinocerebellar Ataxia, Autosomal Recessive 13	Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent...	OMIM:614831
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Frequent falls, Hemiballismus, Tremor	ORPHA:494526
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Cerebellar atrophy, Abnormal lateral ventricle morphology, Gait imbalance, Gait ataxia, Cerebella...	ORPHA:488635
Spastic Paraplegia 57, Autosomal Recessive	Optic atrophy	OMIM:615658
Episodic Kinesigenic Dyskinesia 2	Dystonia, Chorea, Involuntary movements, Paroxysmal dyskinesia	OMIM:611031
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short stature, Cerebral visual impairment, Abnormality of visual evoked potentials	ORPHA:1389
Behr Syndrome	Optic atrophy, Cerebellar atrophy, Sensory axonal neuropathy, Hypoplastic optic chiasm, Visual im...	OMIM:210000
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Optic atrophy, Cerebellar atrophy, Abnormal electroretinogram, Cerebral atrophy, Limb hypertonia,...	OMIM:616875
Tremor, Hereditary Essential, 6	Kinetic tremor, Postural tremor, Head tremor, Vocal tremor	OMIM:618866
Spastic Paraplegia 43, Autosomal Recessive	Optic atrophy	OMIM:615043
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus	OMIM:616921
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Optic atrophy	ORPHA:2773
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem...	ORPHA:179
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Ankle flexion contracture, Distal amyotrophy, Motor axonal neuropathy, Sensorineural hearing impa...	OMIM:617519
Machado-Joseph Disease	Impaired vibratory sensation, Spasticity, Distal amyotrophy, Cerebellar atrophy, Diplopia, Facial...	OMIM:109150
Autosomal Spastic Paraplegia Type 58	Spasticity, Peripheral demyelination, Spastic ataxia, Abnormal pyramidal sign, Clonus, Reduced vi...	ORPHA:397946
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Axonal ...	OMIM:605588
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities	Low-set ears, Optic atrophy, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Dilated four...	OMIM:620428
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Hearing impairment, Difficulty walking, Impaired vibration sensation in the lower limbs, Loss of ...	ORPHA:137898
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Distal amyotrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Fascic...	OMIM:600882
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Cerebellar vermis hypoplasia, Abnormal auditory evoked potentials, Hypoplasia of the pons, Amblyo...	OMIM:617523
Combined Oxidative Phosphorylation Deficiency 38	Low-set ears, Hypertrophic cardiomyopathy, Decreased activity of mitochondrial ATP synthase compl...	OMIM:618378
Cone-Rod Dystrophy 16	Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ...	OMIM:614500
Intellectual Developmental Disorder, Autosomal Recessive 6	Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor	OMIM:611092
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Increased variability in muscle fiber diameter, Sensory axonal neuropathy, Hypoplasia of the pons...	OMIM:620542
Sandhoff Disease, Adult Form	Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia	ORPHA:309169
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Tremor by anatomical s...	ORPHA:101110
Xq12-Q13.3 Duplication Syndrome	Ventriculomegaly, Impaired pain sensation, Anterior creases of earlobe, Low alkaline phosphatase,...	ORPHA:314389
Lambert Syndrome	Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect	ORPHA:1296
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Charcot-Marie-Tooth Disease Type 4A	Vocal cord paresis, Joint contracture of the hand, Distal sensory impairment, Demyelinating perip...	ORPHA:99948
Charcot-Marie-Tooth Disease, Type 4B1	Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Distal amyotrophy...	OMIM:601382
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Optic atrophy	OMIM:620086
Irvan Syndrome	Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ...	ORPHA:209943
Pontocerebellar Hypoplasia, Type 1E	Optic atrophy, Cerebellar atrophy, Hypoplasia of the pons, Elbow flexion contracture, EEG with bu...	OMIM:619303
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Elongated ...	ORPHA:370022
Charcot-Marie-Tooth Disease, Type 4K	Skeletal muscle atrophy, Hearing impairment, Difficulty walking, Peripheral demyelination, Sensor...	OMIM:616684
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Bradykinesia, Incoordination, Postural tremor, Gait ataxia, Cogwheel ...	OMIM:128230
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Abnormal electroretinogram, EEG abnormality, Myopia, Abnormality of visual evoked ...	ORPHA:2971
Ceroid Lipofuscinosis, Neuronal, 8	Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent lipopigment, Myoclonus, ...	OMIM:600143
Combined Oxidative Phosphorylation Defect Type 39	Involuntary movements, Tip-toe gait, Lateral ventricle dilatation, Cerebral atrophy, Decreased ne...	ORPHA:565624
Giant Axonal Neuropathy 1, Autosomal Recessive	Spastic paraplegia, Distal amyotrophy, Sensory axonal neuropathy, Lateral ventricle dilatation, A...	OMIM:256850
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Broad-based gait, Decreased motor nerve conduction velocity, Decreased muscle mass, Inability to ...	OMIM:615490
Tremor, Hereditary Essential, 5	Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor	OMIM:616736
Infantile Krabbe Disease	Hyperesthesia, Optic atrophy, Spasticity, Delayed brainstem auditory evoked response conduction t...	ORPHA:206436
Spinocerebellar Ataxia 28	Spasticity, Cerebellar atrophy, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Ragged-red...	OMIM:610246
Charcot-Marie-Tooth Disease, Type 4J	Ankle flexion contracture, Decreased motor nerve conduction velocity, Decreased nerve conduction ...	OMIM:611228
Retinitis Pigmentosa 19	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:601718
Microcephaly, Seizures, And Developmental Delay	Ventriculomegaly, Cerebellar atrophy, Skeletal muscle atrophy, Ataxia	OMIM:613402
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Skeletal muscle atrophy, Decreased nerve conduction velocity, Peripheral demyelination, Distal se...	ORPHA:99944
Spinocerebellar Ataxia 2	Spasticity, Action tremor, Parkinsonism, Rod-cone dystrophy, Ataxia, Unsteady gait, Bradykinesia,...	OMIM:183090
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventriculomegaly, Lateral ventricle dilatation, EEG with generalized sharp slow waves, Cerebral a...	ORPHA:79243
Progressive Myoclonic Epilepsy Type 1	Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor	ORPHA:308
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Truncal titubation, Pigmentary retinopathy, Impaired vibration sensation in the lower limbs, Abno...	ORPHA:88628
Autosomal Recessive Spastic Paraplegia Type 46	Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Hearing impairment, Abnormal ten...	ORPHA:320391
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Distal amyotrophy, Cerebellar atrophy, Lower limb muscle weakness, Fasciculations, Ga...	OMIM:607317
Machado-Joseph Disease Type 3	Abnormal vestibular function, Spasticity, Degeneration of the striatum, Cerebellar atrophy, Skele...	ORPHA:276244
Microphthalmia-Brain Atrophy Syndrome	Spasticity, Lateral ventricle dilatation, Cerebellar vermis atrophy, Blindness, Diffuse cerebral ...	ORPHA:77299
Leber Hereditary Optic Neuropathy	Optic atrophy, Slow decrease in visual acuity, Retinal vascular tortuosity, Centrocecal scotoma, ...	ORPHA:104
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased motor nerve conduction velocity, Difficulty walking, Distal lower limb amyotrophy, Claw...	OMIM:605285
Combined Oxidative Phosphorylation Deficiency 24	Optic atrophy, Spasticity, CNS hypomyelination, Cerebellar atrophy, Hearing impairment, Skeletal ...	OMIM:616239
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Plantar flexion contracture, Foot dors...	OMIM:620011
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Distal amyotrophy, Foot dorsiflexor weakness, Distal sensory impairment, Decreased number of peri...	OMIM:607731
Spastic Paraplegia 11, Autosomal Recessive	Spastic paraplegia, Cerebral cortical atrophy, Macular degeneration, Skeletal muscle atrophy, Tip...	OMIM:604360
Optic Atrophy 15	Optic atrophy, Optic disc pallor	OMIM:620583
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Spasticity, Pigmentary retinopathy, Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Bab...	OMIM:619090
Spastic Paraplegia 85, Autosomal Recessive	Impaired vibratory sensation, Spastic paraplegia, Upper limb spasticity, Cerebellar atrophy, Opti...	OMIM:619686
Parkinsonism With Spasticity, X-Linked	Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia	OMIM:300911
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Distal amyotrophy, Upper limb muscle weakness, Axonal degeneration/regeneration, Distal sensory i...	OMIM:607677
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Diffuse cerebellar atrophy, Optic atrophy, Cerebral atrophy, Dystonic gait, Limb hypertonia, EEG ...	ORPHA:480898
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Upper limb muscle weakness, Lower limb muscle weakness, Foot dorsiflexor weakness, Distal sensory...	OMIM:616155
Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Ataxia, Undetectable electroretinogram, Unsteady gait, Poor fine motor coordination, ...	ORPHA:79263
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hand tremor, Fasciculations, Distal sensory impairment, Decreased number of peripheral myelinated...	OMIM:604484
Spinocerebellar Ataxia 31	Cerebellar atrophy, Limb ataxia, Gait ataxia, Sensorineural hearing impairment, Ataxia	OMIM:117210
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A	Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Lower limb spasticity, Hypertonia, Ataxia...	OMIM:613925
Joubert Syndrome 3	Low-set ears, Cerebellar vermis hypoplasia, Pigmentary retinopathy, Enlarged fossa interpeduncula...	OMIM:608629
Neuropathy, Congenital Hypomyelinating, 2	Distal amyotrophy, Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Inability ...	OMIM:618184
Infantile-Onset Spinocerebellar Ataxia	Optic atrophy, Abnormality of the autonomic nervous system	ORPHA:1186
Retinitis Pigmentosa 79	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617460
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Undetectable visual evoked potentials, Ventriculomegaly, Ventricular hypertrophy, Leukodystrophy,...	OMIM:619051
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Distal amyotrophy, Cerebellar atrophy, Demyelinating sensory neuropathy, Gait ataxia, Limb muscle...	OMIM:618387
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Calf muscle hypoplasia, Decreased amplitude of sensory action potentials, Decreased nerve conduct...	ORPHA:90103
Spastic Ataxia, Charlevoix-Saguenay Type	Spasticity, Progressive truncal ataxia, Impaired vibration sensation in the lower limbs, Distal s...	OMIM:270550
Retinitis Pigmentosa 73	Color vision defect, Geographic atrophy, Constriction of peripheral visual field, Epiretinal memb...	OMIM:616544
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Foot dorsiflexor weakness, Steppage gait, Onion bulb formation, Distal sensory impairment	OMIM:616039
Developmental And Epileptic Encephalopathy 76	Cerebellar atrophy, Cerebral atrophy, Inability to walk, Lower limb spasticity, Delayed CNS myeli...	OMIM:618468
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Impaired vibration sensation in the lower limbs, Limb ataxia, Tremor, Babinsk...	ORPHA:251282
Spinocerebellar Ataxia 38	Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia	OMIM:615957
Optic Atrophy 14	Optic disc pallor	OMIM:620550
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Cerebe...	OMIM:615268
Mitochondrial Complex I Deficiency, Nuclear Type 1	Tongue fasciculations, Spasticity, Undetectable visual evoked potentials, Cerebellar atrophy, Ske...	OMIM:252010
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Ventriculomegaly, Dilated third ventricle, Muscular dystrophy, Hypoplasia of the p...	OMIM:613154
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Undetectable visual evoked potentials, Constriction of peripheral visual field, Progressive night...	ORPHA:436245
Wars2-Related Combined Oxidative Phosphorylation Defect	Low-set ears, Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar atrophy, Lateral ventric...	ORPHA:572798
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Increased variability in muscle fiber diameter, Dyschromatopsia, Muscle fiber atrophy, Positive R...	OMIM:258450
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Proximal muscle weakness in lower limbs, Joint contracture of the hand, Hearing impairment, Dysch...	ORPHA:466768
Barth Syndrome	Dilated cardiomyopathy, Endocardial fibroelastosis, Abnormal mitochondrial morphology	ORPHA:111
Combined Oxidative Phosphorylation Deficiency 19	Elevated gamma-glutamyltransferase level, Increased variability in muscle fiber diameter, Mitocho...	OMIM:615595
Autosomal Recessive Spastic Paraplegia Type 11	Cerebral cortical atrophy, Distal amyotrophy, Visual impairment, Lateral ventricle dilatation, Lo...	ORPHA:2822
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebellar vermis, Truncal ataxia, Ag...	OMIM:220200
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
Ceroid Lipofuscinosis, Neuronal, 5	Cerebral cortical atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Ab...	OMIM:256731
Parkinson Disease 15, Autosomal Recessive Early-Onset	Bradykinesia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Park...	OMIM:260300
Pelizaeus-Merzbacher Disease	Optic atrophy, Spasticity, Cerebral cortical atrophy, Hearing impairment, Gait disturbance, Ataxi...	ORPHA:702
Autosomal Recessive Spastic Paraplegia Type 32	Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim...	ORPHA:171622
Mitochondrial Complex I Deficiency, Nuclear Type 26	Distal amyotrophy, Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Limb hypertonia, EEG...	OMIM:618247
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Dilated fourth ventricle, ...	OMIM:615771
Peho Syndrome	Optic atrophy, Undetectable visual evoked potentials, Cerebellar atrophy, Peripheral dysmyelinati...	OMIM:260565
Spinocerebellar Ataxia 18	Cerebellar atrophy, Sensory axonal neuropathy, Skeletal muscle atrophy, Limb muscle weakness, Tre...	OMIM:607458
Progressive Myoclonic Epilepsy With Dystonia	Diffuse cerebellar atrophy, Optic atrophy, EEG with irregular generalized spike and wave complexe...	ORPHA:352596
Glaucoma 1, Open Angle, F	Increased cup-to-disc ratio	OMIM:603383
Usher Syndrome, Type 1M	Optic disc pallor, Drusen	OMIM:618632
Charcot-Marie-Tooth Disease Type 1F	Proximal muscle weakness in lower limbs, Demyelinating sensory neuropathy, Head tremor, Positive ...	ORPHA:101085
Leber Congenital Amaurosis With Early-Onset Deafness	Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration	OMIM:617879
Spinocerebellar Ataxia 23	Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Bab...	OMIM:610245
Adams-Oliver Syndrome 2	Low-set ears, Optic atrophy, Lateral ventricle dilatation, Cerebral atrophy, Cerebellar hypoplasi...	OMIM:614219
Spastic Paraplegia 30, Autosomal Dominant	Spastic paraplegia, Cerebellar atrophy, Lower limb muscle weakness, Dysmetria, Ankle clonus, Babi...	OMIM:610357
Epilepsy, Progressive Myoclonic, 11	Cerebellar vermis hypoplasia, Cerebellar atrophy, Giant somatosensory evoked potentials, Myoclonu...	OMIM:618876
Spastic Paraplegia 7, Autosomal Recessive	Spastic paraplegia, Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Hearing impairm...	OMIM:607259
Poretti-Boltshauser Syndrome	Cerebellar vermis hypoplasia, Retinal thinning, Cerebellar dysplasia, Dilated fourth ventricle, R...	OMIM:615960
Spinocerebellar Ataxia 25	Cerebellar atrophy, Impaired pain sensation, Hearing impairment, Facial myokymia, Decreased numbe...	OMIM:608703
Wolfram-Like Syndrome, Autosomal Dominant	Optic disc pallor, Optic atrophy	OMIM:614296
Dna2-Related Mitochondrial Dna Deletion Syndrome	Difficulty walking, Decreased mitochondrial number, Multiple joint contractures, Myopathy, Gait d...	ORPHA:352470
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Abnorma...	OMIM:605253
Dystonia 11, Myoclonic	Myoclonus, Writer's cramp, Tremor, Torticollis	OMIM:159900
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Finger joint contracture, Chorea, Paresthesia, Abnor...	ORPHA:48431
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Optic disc pallor, Retinal dystrophy	OMIM:616079
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Gliosis, Retinopathy	OMIM:615119
Retinitis Pigmentosa 78	Optic disc pallor, Cystoid macular edema	OMIM:617433
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Distal amyotrophy, Upper limb muscle weakness, Axonal degeneration/regeneration, Distal sensory i...	OMIM:607791
Microphthalmia, Isolated 5	Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat...	OMIM:611040
Exudative Vitreoretinopathy 7	Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold	OMIM:617572
Glycosylphosphatidylinositol Biosynthesis Defect 15	Optic atrophy, Spasticity, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetria,...	OMIM:617810
Leber Congenital Amaurosis 4	Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy, Cone/cone-rod dystrophy	OMIM:604393
Epilepsy, Progressive Myoclonic 7	Myoclonus, Tremor, Ataxia	OMIM:616187
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt...	ORPHA:1170
Spinocerebellar Ataxia 41	Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait	OMIM:616410
Spinal Muscular Atrophy, Jokela Type	Tremor, Distal sensory impairment, Fasciculations	OMIM:615048
Congenital Muscular Dystrophy Without Intellectual Disability	Ventriculomegaly, Muscular dystrophy, Cerebellar atrophy, Tip-toe gait, Difficulty walking, Reduc...	ORPHA:370980
Slc35A2-Cdg	Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Lateral ventricle di...	ORPHA:356961
Metachromatic Leukodystrophy, Late Infantile Form	Optic atrophy, Spasticity, Tip-toe gait, Leukodystrophy, Decreased nerve conduction velocity, Gai...	ORPHA:309256
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Diffuse cerebellar atrophy, Broad-based gait, Ventriculomegaly, Progressive truncal ataxia, Diffi...	ORPHA:363429
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Decreased nerve conduction velocity, Peripheral demyelination, Gait ataxia, Loss of ambulation, B...	OMIM:249900
Machado-Joseph Disease Type 1	Abnormal vestibular function, Spasticity, Degeneration of the striatum, Cerebellar atrophy, Skele...	ORPHA:276238
Machado-Joseph Disease Type 2	Abnormal vestibular function, Spasticity, Degeneration of the striatum, Cerebellar atrophy, Skele...	ORPHA:276241
Retinal Dystrophy And Obesity	Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re...	OMIM:616188
Retinitis Pigmentosa 1	Scotoma, Undetectable light- and dark-adapted electroretinogram, Constriction of peripheral visua...	OMIM:180100
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cerebellar vermis hypoplasia, Ankle flexion contracture, Lateral ventricle dilatation, EEG with f...	ORPHA:284417
Macular Dystrophy With Central Cone Involvement	Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculopathy, Macular dyst...	OMIM:616170
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti...	ORPHA:411527
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Myoclonus, Gait ataxia, Tremor, ...	OMIM:615362
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Difficulty walking, Visual loss, Pe...	OMIM:619425
Amyotrophic Lateral Sclerosis 4, Juvenile	Distal amyotrophy, Amyotrophic lateral sclerosis, Difficulty walking, Decreased compound muscle a...	OMIM:602433
Exudative Vitreoretinopathy 3	Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold	OMIM:605750
Ataxia-Telangiectasia-Like Disorder	Cerebellar vermis hypoplasia, Cerebellar atrophy, Chorea, Dilated fourth ventricle, Gait ataxia, ...	ORPHA:251347
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Distal amyotrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal...	OMIM:615376
Spastic Paraparesis And Deafness	Spastic paraparesis, Tremor	OMIM:312910
Autosomal Recessive Spastic Paraplegia Type 45	Optic atrophy	ORPHA:320396
Glaucoma 3, Primary Congenital, E	Increased cup-to-disc ratio	OMIM:617272
Cerebral Palsy, Ataxic, Autosomal Recessive	Broad-based gait, Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy	OMIM:605388
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency	Difficulty walking, Cerebellar vermis atrophy, Limb ataxia, Truncal ataxia, Brain atrophy	ORPHA:363432
Leukodystrophy, Hypomyelinating, 18	Spasticity, Cerebellar atrophy, Decreased nerve conduction velocity, Abnormal motor nerve conduct...	OMIM:618404
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:607688
Retinitis Pigmentosa 86	Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,...	OMIM:618613
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Hemiplegia, Transient unilateral blurring of vision, Tremor, Hemiparesis, Ataxia	OMIM:141500
Folinic Acid-Responsive Seizures	Optic atrophy, Broad-based gait, Frontotemporal cerebral atrophy, Cerebellar atrophy, Difficulty ...	ORPHA:79097
Charcot-Marie-Tooth Disease, Type 4B3	Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Decreased nerve ...	OMIM:615284
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Papilledema, Retinal arteriolar constriction	OMIM:124950
Multiple Mitochondrial Dysfunctions Syndrome 6	Optic atrophy, Spasticity, Cerebellar atrophy, Hearing impairment, Inability to walk, Visual loss...	OMIM:617954
Spastic Ataxia 2, Autosomal Recessive	Spasticity, Fasciculations, Gait ataxia, Tremor, Dysmetria, Ankle clonus, Babinski sign, Spastic ...	OMIM:611302
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Dysesthesia, Distal lower limb muscle weakness, Acute demyelinating polyneuropathy, Unsteady gait...	ORPHA:98916
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Optic atrophy	ORPHA:1538
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Abnormal auditory evoked potentials, Cerebellar atrophy, CNS hypomyelination, Cerebral atrophy, T...	OMIM:619260
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Dystonia, Myoclonus, Tremor, Frequent falls	OMIM:619647
Pontocerebellar Hypoplasia, Type 12	Cerebellar hypoplasia, Cerebral atrophy, Lateral ventricle dilatation, Joint contracture	OMIM:618266
Asparagine Synthetase Deficiency	Dilated third ventricle, Hypoplasia of the pons, Clonus, Hypsarrhythmia, Spastic tetraplegia, Mac...	OMIM:615574
Primary Non-Essential Cutis Verticis Gyrata	Reduced visual acuity, Abnormality of pattern visual evoked potentials	ORPHA:357225
Neuromyelitis Optica Spectrum Disorder	Somatic sensory dysfunction, Paraplegia, Peripheral demyelination, Visual loss, Optic neuritis, N...	ORPHA:71211
Autosomal Recessive Spastic Paraplegia Type 57	Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:431329
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Low-set ears, Cerebellar vermis hypoplasia, Ventriculomegaly, Undetectable visual evoked potentia...	ORPHA:163961
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Incoordination, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Babinski s...	OMIM:616204
Spinocerebellar Ataxia 12	Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress...	OMIM:604326
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Decreased nerve conduction velo...	OMIM:612674
Martsolf Syndrome 2	Lateral ventricle dilatation, Camptodactyly of finger, Camptodactyly, Brain atrophy, Macrotia, Sp...	OMIM:619420
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Distal amyotrophy, Denervation of the diaphragm, Camptodactyly of finger, Decreased nerve conduct...	OMIM:604320
Alg13-Cdg	Clumsiness, Abnormal lateral ventricle morphology, Global brain atrophy, Hypsarrhythmia	ORPHA:324422
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Tremor	OMIM:611808
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation, Difficulty walking, Tremor, Hemiparesis, Parkinsonism, Cerebral cor...	ORPHA:306669
Striatal Degeneration, Autosomal Dominant 1	Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech	OMIM:609161
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat...	OMIM:600059
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Retinal thinning	OMIM:618970
Coenzyme Q10 Deficiency, Primary, 8	Hearing impairment, Elevated circulating creatinine concentration, Peripheral demyelination, Left...	OMIM:616733
Cone-Rod Dystrophy, X-Linked, 3	Color vision defect, Abnormality of macular pigmentation, Abnormal light- and dark-adapted electr...	OMIM:300476
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Spasticity, Lateral ventricle dilatation, Hypsarrhythmia, Hypertonia, Optic nerve hypoplasia	OMIM:618890
Pontocerebellar Hypoplasia, Type 6	Cerebellar vermis hypoplasia, Spasticity, Cerebral cortical atrophy, Cerebellar atrophy, Cerebral...	OMIM:611523
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Limb dysmetria, Myoclonus, Tremor, Cogwheel rigidity, Truncal ataxia...	ORPHA:363710
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Vestibular hypofunction, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia,...	OMIM:616291
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Brain atrophy, High myopia, Delayed CNS myelination, Limb hypertonia, Joint contracture, Photopho...	OMIM:614457
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
X-Linked Progressive Cerebellar Ataxia	Cerebellar vermis atrophy, Limb ataxia, Distal lower limb amyotrophy, Intention tremor, Dysmetria...	ORPHA:1175
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Spasticity, Spastic paraparesis, Hearing impairment, Peripheral demyelination, Distal sensory imp...	OMIM:609136
Developmental And Epileptic Encephalopathy 3	Spasticity, Cerebral atrophy, EEG with burst suppression, Delayed myelination, Brain atrophy, Abn...	OMIM:609304
Spastic Paraplegia 82, Autosomal Recessive	Optic atrophy	OMIM:618770
Hemimegalencephaly	Optic atrophy, Abnormal neuron morphology, Gliosis	ORPHA:99802
Dandy-Walker Malformation With Postaxial Polydactyly	Low-set ears, Aortic valve stenosis, Dilated fourth ventricle, Chorioretinal atrophy, Hydrocephal...	OMIM:220220
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Axonal loss, Gliosis, Amyotrophic lateral sclerosis	OMIM:300857
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive c...	ORPHA:98763
Pontocerebellar Hypoplasia, Type 2D	Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Chorea, Appendicular spasticity,...	OMIM:613811
Metachromatic Leukodystrophy, Juvenile Form	Optic atrophy, Spasticity, Leukodystrophy, Decreased nerve conduction velocity, Clumsiness, Progr...	ORPHA:309263
Intellectual Developmental Disorder, X-Linked, Syndromic, Gustavson Type	Optic atrophy	OMIM:309555
X-Linked Spinocerebellar Ataxia Type 3	Optic atrophy	ORPHA:85297
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Spastic paraplegia, Dilated third ventricle, Tip-toe gait, Lateral ventricle dilatation, Cerebral...	OMIM:617296
Spinocerebellar Ataxia, Autosomal Recessive 24	Spastic gait, Limb ataxia, Gait ataxia, Cerebellar atrophy	OMIM:617133
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Low-set ears, Undetectable visual evoked potentials, Sensorineural hearing impairment, Babinski s...	ORPHA:423479
Leukodystrophy, Hypomyelinating, 15	Optic atrophy, Spasticity, Cerebellar atrophy, CNS hypomyelination, Leukodystrophy, Cerebral atro...	OMIM:617951
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2	Optic atrophy, Spasticity, Cerebellar atrophy, Inability to walk, Hypsarrhythmia, Optic disc pall...	OMIM:617086
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal...	ORPHA:79262
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Positive Romber...	OMIM:616515
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Cerebral cortical atrophy, Ventriculomegaly, Broad-based gait, Cerebellar atrophy, Hand tremor, G...	OMIM:617862
Tremor, Hereditary Essential, 2	Upper limb postural tremor, Kinetic tremor	OMIM:602134
De Sanctis-Cacchione Syndrome	Optic atrophy, Spasticity, Ventriculomegaly, Global brain atrophy, Leukodystrophy, Cerebral atrop...	OMIM:278800
Lethal Congenital Contracture Syndrome 8	Distal amyotrophy, Facial diplegia, Distal sensory impairment, Peripheral hypomyelination, Distal...	OMIM:616287
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Abnormal mitochondrial shape	OMIM:610773
Cerebellar Ataxia, Cayman Type	Broad-based gait, Cerebellar atrophy, Skeletal muscle atrophy, Gait ataxia, Cerebellar hypoplasia...	OMIM:601238
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Tip-toe gait, Tetraparesis, Decreased number of peripheral myelinated nerve fibers, Clumsiness, H...	ORPHA:2386
Spinocerebellar Ataxia 45	Limb ataxia, Gait ataxia, Cerebellar atrophy	OMIM:617769
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia	OMIM:615768
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Cerebral cortical atrophy, Lateral ventricle dilatation, Delayed CNS myelination, EEG abnormality...	OMIM:617668
Spinocerebellar Ataxia, Autosomal Recessive 8	Optic atrophy, Spasticity, Cerebellar atrophy, Hearing impairment, Limb ataxia, Gait ataxia, Dysm...	OMIM:610743
Spinocerebellar Ataxia, Autosomal Recessive 33	Broad-based gait, Dilated fourth ventricle, Gait ataxia, Cerebellar hypoplasia, Reduced visual ac...	OMIM:620208
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Scotoma, Gait ataxia, Myoclonus, Dysmetria,...	OMIM:616505
White-Sutton Syndrome	Low-set ears, Abnormality of the outer ear, Mild myopia, Abnormal electroretinogram, Cerebral atr...	OMIM:616364
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Lower...	OMIM:600363
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Skeletal muscle atrophy, Lower l...	OMIM:616479
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Retinopathy, Cerebel...	OMIM:616171
Mitochondrial Dna Depletion Syndrome 18	Tongue fasciculations, Distal amyotrophy, Falls, Foot dorsiflexor weakness, Hand muscle atrophy, ...	OMIM:618811
Dystonia With Cerebellar Atrophy	Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia	OMIM:611694
Spastic Paraplegia 46, Autosomal Recessive	Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Hearing impairment, Hand tr...	OMIM:614409
Spinocerebellar Ataxia Type 30	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia	ORPHA:211017
Spinocerebellar Ataxia Type 5	Incoordination, Gait disturbance, Cerebellar atrophy, Slurred speech	ORPHA:98766
Retinitis Pigmentosa 12	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:600105
Retinitis Pigmentosa 46	Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:612572
Spinocerebellar Ataxia Type 28	Spasticity, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, Rigidity, Dystonia, Babinski si...	ORPHA:101109
Congenital Disorder Of Glycosylation, Type Iiz	Diffuse cerebellar atrophy, Limb joint contracture, Clonus, Appendicular spasticity	OMIM:620201
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Hypertonia, Spastic tetraplegia	OMIM:618730
Amyotrophy, Hereditary Neuralgic	Low-set ears, Skeletal muscle atrophy, Brachial plexus neuropathy, Axonal degeneration, Periphera...	OMIM:162100
Microlissencephaly	Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Hypertonia, Cerebral dysmyelination	ORPHA:1083
Peroxisome Biogenesis Disorder 6B	Impaired vibratory sensation, Distal amyotrophy, Cerebellar atrophy, Leukodystrophy, Decreased li...	OMIM:614871
Spinocerebellar Ataxia 35	Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o...	OMIM:613908
Metachromatic Leukodystrophy, Adult Form	Optic atrophy, Spasticity, Leukodystrophy, Difficulty walking, Decreased nerve conduction velocit...	ORPHA:309271
Cog5-Cdg	Low-set ears, Joint contracture of the hand, Elevated circulating hepatic transaminase concentrat...	ORPHA:263487
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r...	OMIM:604116
Spinocerebellar Ataxia, Autosomal Recessive 32	Abnormal nerve conduction velocity, Cerebellar atrophy, Somatic sensory dysfunction, Limb myoclon...	OMIM:619862
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy	Spastic tetraparesis, Cerebellar atrophy, Brain atrophy, Sensorineural hearing impairment	OMIM:618741
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Striatonigral Degeneration, Infantile	Optic atrophy	OMIM:271930
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Lateral ventricle dilatation, Hypoplasia of the pons, Hemiparesis, Agenesis o...	ORPHA:300573
Multiple Sulfatase Deficiency	Ventriculomegaly, Spasticity, Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Periphera...	OMIM:272200
Hypotonia, Infantile, With Psychomotor Retardation	Increased variability in muscle fiber diameter, Lateral ventricle dilatation, Myopathy, Ventricul...	OMIM:616816
Dystonia 23	Head tremor, Limb dystonia, Axial dystonia, Myoclonus, Torticollis, Writer's cramp	OMIM:614860
X-Linked Non Progressive Cerebellar Ataxia	Action tremor, Clumsiness, Truncal ataxia, Nonprogressive cerebellar ataxia, Spastic dysarthria, ...	ORPHA:314978
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Ventriculomegaly, Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Inability t...	OMIM:218000
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Optic atrophy, Ventriculomegaly, Cerebellar atrophy, Skeletal muscle atrophy, Cerebral atrophy, C...	OMIM:617710
Leukodystrophy, Hypomyelinating, 5	Truncal titubation, Delayed brainstem auditory evoked response conduction time, Decreased motor n...	OMIM:610532
Hyperphenylalaninemia, Bh4-Deficient, D	Hypertonia, Tremor	OMIM:264070
Corticobasal Syndrome	Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Bradykinesia, Progressive ext...	ORPHA:454887
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Spastic paraplegia, Optic atrophy, Cerebellar atrophy, Difficulty walking, Neurodegeneration, Dys...	OMIM:612319
Epilepsy, Progressive Myoclonic, 8	Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, Myoclonus, EEG with photoparoxysmal res...	OMIM:616230
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Inability to walk, Cerebellar atrophy, Ataxia	OMIM:619333
Amyotrophic Lateral Sclerosis 3	Cerebellar atrophy, Lower limb muscle weakness	OMIM:606640
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Cerebellar atrophy, Cerebral atrophy, Clumsiness, EEG abnormality, Increased neuronal autofluores...	OMIM:610003
Congenital Hydrocephalus	Optic atrophy, Ventriculomegaly, Abnormal heart morphology, Sensorineural hearing impairment, Mac...	ORPHA:2185
Retinitis Pigmentosa 49	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:613756
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Dystonia, Myoclonus, Failure to thrive, Tremor	OMIM:619651
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Fasciculations	OMIM:182980
Micro Syndrome	Cerebellar vermis hypoplasia, Spasticity, Optic atrophy, Cerebral cortical atrophy, Retinal colob...	ORPHA:2510
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia	OMIM:615924
Mucolipidosis Iv	Optic atrophy, Cerebellar atrophy, Visual impairment, Retinal degeneration, Dysplastic corpus cal...	OMIM:252650
Camos Syndrome	Optic atrophy	ORPHA:83472
Progressive Myoclonic Epilepsy Type 3	Optic atrophy, Abnormality of vision, Cerebellar atrophy, Limb myoclonus, Cerebral atrophy, Focal...	ORPHA:263516
Spinocerebellar Ataxia Type 12	Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida...	ORPHA:98762
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr...	ORPHA:276193
Mitochondrial Dna Depletion Syndrome 17	Hepatic failure, Cerebellar atrophy, Cerebral atrophy, Chorea, Decreased activity of mitochondria...	OMIM:618567
Autosomal Recessive Spastic Paraplegia Type 35	Spastic paraplegia, Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Difficulty walk...	ORPHA:171629
Spinocerebellar Ataxia 48	Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia, Ataxia, Dystonia	OMIM:618093
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Global brain atrophy, Cerebellar atrophy, Aplasia of the inferior half of the c...	OMIM:610185
Cockayne Syndrome A	Hip contracture, Sensorineural hearing impairment, Hypermetropia, Ataxia, Abnormal pinna morpholo...	OMIM:216400
Spastic Ataxia-Corneal Dystrophy Syndrome	Optic atrophy	ORPHA:2572
Spastic Paraplegia With Neuropathy And Poikiloderma	Spastic paraplegia, Distal amyotrophy, Demyelinating sensory neuropathy, Demyelinating motor neur...	OMIM:182815
Autosomal Dominant Optic Atrophy, Classic Form	Spastic paraplegia, Spasticity, Optic atrophy, Cerebellar atrophy, Skeletal muscle atrophy, Color...	ORPHA:98673
Urocanase Deficiency	Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia	OMIM:276880
Preeclampsia/Eclampsia 1	Intrauterine growth retardation, Edema	OMIM:189800
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Low-set ears, Cerebellar vermis hypoplasia, Spasticity, Optic atrophy, Cerebellar atrophy, Skelet...	OMIM:620089
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Spasticity, Retinal pigment epithelial mottling, Lateral ventricle dilatation, Abnormal dentate n...	OMIM:619517
Leber Congenital Amaurosis 14	Congenital blindness, Reduced visual acuity, Optic disc pallor, Nyctalopia, Rod-cone dystrophy, P...	OMIM:613341
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Low-set ears, Spasticity, Lateral ventricle dilatation, Congenital fibrosis of extraocular muscle...	ORPHA:300570
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Spasticity, Falls, Cerebellar atrophy, Cerebral atrophy, Action tremor, Rigidity, Babinski sign, ...	OMIM:300423
Spastic Paraplegia 78, Autosomal Recessive	Impaired vibratory sensation, Spastic paraplegia, Cerebral cortical atrophy, Falls, Resting tremo...	OMIM:617225
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Optic atrophy, Spasticity, Somatic sensory dysfunction, Generalized limb muscle atrophy, Cerebell...	ORPHA:466794
Mpdu1-Cdg	Optic atrophy, Ventriculomegaly, Undetectable visual evoked potentials, Abnormal circulating enzy...	ORPHA:79323
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Diplopia, Macular degeneration, Cerebellar atrophy, Leg muscle stiffness, Fasciculations, Limb at...	ORPHA:284289
Retinitis Pigmentosa 58	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:613617
Congenital Disorder Of Glycosylation, Type Iibb	Low-set ears, Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Skeletal muscle atrop...	OMIM:620546
Charcot-Marie-Tooth Disease Type 1B	Skeletal muscle atrophy, Somatic sensory dysfunction, Hearing impairment, Peripheral dysmyelinati...	ORPHA:101082
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Dilated cardiomyopathy, Cerebellar atrophy, Decreased mitochondrial number, Ragged-red muscle fib...	ORPHA:352447
Peho-Like Syndrome	Optic atrophy, Ventriculomegaly, Cerebellar atrophy, Myoclonus, Hypsarrhythmia	OMIM:617507
Pontocerebellar Hypoplasia, Type 13	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Lateral ventricle dilatation, Decreased liv...	OMIM:618606
Prune1-Related Neurological Syndrome	Low-set ears, Tongue fasciculations, Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Cere...	ORPHA:544469
Paraparetic Variant Of Guillain-Barré Syndrome	Peripheral axonal neuropathy, Peripheral demyelination, Paraparesis, Impaired distal proprioception	ORPHA:231445
Lissencephaly 4	Agenesis of corpus callosum, Cerebellar hypoplasia, Babinski sign, Colpocephaly, Hypertonia	OMIM:614019
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Optic atrophy, Diplopia, Cerebellar atrophy, Cardiomyopathy, Vertigo, Limb ataxia, Gait ataxia, L...	OMIM:619259
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Small for gestational age, Tremor, Ataxia	OMIM:278780
Spastic Ataxia 5, Autosomal Recessive	Spasticity, Spastic paraparesis, Cerebellar atrophy, Distal amyotrophy, Lower limb muscle weaknes...	OMIM:614487
Oculocutaneous Albinism Type 1A	Abnormal optic nerve morphology, Ocular albinism, Hypoplasia of the fovea, Photophobia, Visual im...	ORPHA:79431
Retinitis Pigmentosa 41	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ...	OMIM:612095
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Hearing impairment, Neurodegeneration, Gait ataxia, Congenital diaphragmatic ...	ORPHA:438134
Autosomal Recessive Spastic Paraplegia Type 66	Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim...	ORPHA:401815
Leber Congenital Amaurosis 2	Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, ...	OMIM:204100
Mast Syndrome	Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Lower limb muscle weakness, Cerebral...	OMIM:248900
Spinocerebellar Ataxia 30	Cerebellar atrophy, Ataxia	OMIM:613371
Intellectual Developmental Disorder, Autosomal Dominant 48	Low-set ears, Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Lateral ventricl...	OMIM:617751
Childhood-Onset Spasticity With Hyperglycinemia	Optic atrophy, Spastic dysarthria, Visual impairment, Leukodystrophy, Myoclonus, Decreased activi...	ORPHA:401866
Leukoencephalopathy With Vanishing White Matter 1	Optic atrophy, Gliosis	OMIM:603896
Infantile Cerebellar-Retinal Degeneration	Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Sensorineural hearing impairment, D...	OMIM:614559
Leukodystrophy, Hypomyelinating, 14	Spasticity, Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Blindness	OMIM:617899
Mitochondrial Complex I Deficiency, Nuclear Type 28	Optic atrophy, Cerebellar atrophy, Hearing impairment, Akinesia, Optic disc pallor, Lower limb sp...	OMIM:618249
Combined Oxidative Phosphorylation Deficiency 27	Cerebral cortical atrophy, Global brain atrophy, Cerebellar atrophy, Hearing impairment, Cerebral...	OMIM:616672
Adult-onset autosomal dominant leukodystrophy (ADLD)	Peripheral demyelination, Abnormal pyramidal sign, Abnormal autonomic nervous system physiology, ...	DECIPHER:59
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretinal dysplas...	OMIM:251270
Merrf	Optic atrophy	ORPHA:551
Lower Motor Neuron Syndrome With Late-Adult Onset	Tongue fasciculations, Fasciculations, Increased intramuscular fat, Tremor, Impaired distal vibra...	ORPHA:276435
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Broad-based gait, Spasticity, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, ...	ORPHA:284332
Atypical Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ...	ORPHA:216873
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Spasticity, Global brain atrophy, Cerebellar atrophy, Cerebral atrophy, Loss of ambulation, Babin...	OMIM:615838
Mitochondrial Dna Depletion Syndrome 11	Dilated cardiomyopathy, Cerebellar atrophy, Decreased activity of mitochondrial complex IV, Ragge...	OMIM:615084
Cavitary Optic Disc Anomalies	Peripapillary atrophy	OMIM:611543
Retinitis Pigmentosa 10	Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re...	OMIM:180105
Spinocerebellar Ataxia Type 41	Cerebellar vermis atrophy, Gait ataxia	ORPHA:458798
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Developmental And Epileptic Encephalopathy 47	Cerebellar atrophy, Inability to walk, Limb ataxia, Attenuation of retinal blood vessels, Gait di...	OMIM:617166
Nanophthalmos 4	Optic disc drusen	OMIM:615972
Tangier Disease	Distal amyotrophy, Impaired pain sensation, Impaired temperature sensation, Peripheral demyelinat...	OMIM:205400
Mitochondrial Complex I Deficiency, Nuclear Type 5	Optic atrophy, Cerebellar atrophy, Leukodystrophy, Babinski sign, Decreased activity of mitochond...	OMIM:618226
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Shoulder girdle muscle atrophy, Ventriculomegaly, Muscular dystrophy, Cerebellar atrophy, Tip-toe...	OMIM:606612
Combined Oxidative Phosphorylation Deficiency 58	Ataxia, Low-set ears, Optic atrophy, Cerebellar atrophy, Difficulty walking, Gait ataxia, Myoclon...	OMIM:620451
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
Familial Exudative Vitreoretinopathy	Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac...	ORPHA:891
Leigh Syndrome, Nuclear	Optic atrophy, Pigmentary retinopathy, Gliosis	OMIM:256000
Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction	Spasticity, Cerebellar atrophy, Cerebral atrophy, Gait disturbance, Spastic tetraparesis	OMIM:620515
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Bradykinesia, Multiple joint contractures, Tremor, Ankle clonus, Babinski sign, Parki...	ORPHA:521406
Leber Congenital Amaurosis 9	Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal...	OMIM:608553
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Spasticity, Cerebellar atrophy, Cerebral atrophy, Positive Romberg sign, Dysmetria, Weakness of f...	OMIM:618088
Primary Dystonia, Dyt2 Type	Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T...	ORPHA:99657
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Distal lower limb amyotrophy, Claw hand deformity, Foot dorsiflexor weakness, Distal sensory impa...	OMIM:614455
Mitochondrial Complex I Deficiency, Nuclear Type 29	Abnormal heart morphology, Hypertrophic cardiomyopathy, Decreased activity of mitochondrial compl...	OMIM:618250
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated circulating hepatic transaminase concentration, Decreased motor nerve conduction velocit...	ORPHA:298
Combined Oxidative Phosphorylation Deficiency 39	Involuntary movements, Spasticity, Ventriculomegaly, Cerebellar atrophy, Congenital contracture, ...	OMIM:618397
Lethal Congenital Contracture Syndrome 7	Cerebellar atrophy, Skeletal muscle atrophy, Cerebral atrophy, Facial diplegia, Knee flexion cont...	OMIM:616286
Spinocerebellar Ataxia, X-Linked 1	Abnormality of extrapyramidal motor function, Intention tremor, Action tremor, Ataxia	OMIM:302500
Cerebellar Atrophy, Developmental Delay, And Seizures	Cerebellar atrophy, EEG abnormality	OMIM:617643
Alg2-Cdg	Cerebral hypomyelination, Abnormal circulating enzyme concentration or activity, Hypsarrhythmia, ...	ORPHA:79326
Autosomal Recessive Cutis Laxa Type 2A	Cerebellar vermis hypoplasia, Spasticity, Hearing impairment, Inability to walk, Cerebellar malfo...	ORPHA:357058
Lissencephaly Due To Tuba1A Mutation	Cerebellar vermis hypoplasia, Spasticity, Ventriculomegaly, Dilated fourth ventricle, Agenesis of...	ORPHA:171680
Cone-Rod Dystrophy 20	Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy	OMIM:615973
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Obesity, Limb dystonia, Tremor, Ataxia	OMIM:620270
Periventricular Nodular Heterotopia 8	Cerebellar vermis atrophy, Spasticity, Delayed CNS myelination	OMIM:618185
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Optic atrophy, Spasticity, Cerebellar atrophy, Difficulty walking, Gait ataxia, Dysmetria, Tremor...	ORPHA:529665
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Spasticity, Leukodystrophy, Pseudobulbar paralysis, Autonomic bladder dysfunction, Abnormal cereb...	OMIM:169500
Intellectual Developmental Disorder, X-Linked 101	Optic atrophy	OMIM:300928
Neurodevelopmental Disorder With Involuntary Movements	Involuntary movements, Spasticity, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Chorea...	OMIM:617493
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Dysmetria, Ataxia	OMIM:617917
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu...	ORPHA:240103
Juvenile Neuronal Ceroid Lipofuscinosis	Large central visual field defect, Poor motor coordination, Pigmentary retinopathy, Cerebellar at...	ORPHA:79264
Spasticity, Childhood-Onset, With Hyperglycinemia	Optic atrophy	OMIM:616859
Leigh Syndrome	Spasticity, Leukodystrophy, Decreased activity of mitochondrial complex IV, Myopathy, Sensorineur...	ORPHA:506
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Muscular dystrophy, Cardiomyopathy, Inability to walk, Cerebellar d...	OMIM:613155
Spinocerebellar Ataxia 50	Froment sign, Diplopia, Cerebellar atrophy, Hearing impairment, Cerebellar vermis atrophy, Chorea...	OMIM:620158
Leukoencephalopathy With Vanishing White Matter 2	Optic atrophy	OMIM:620312
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Spasticity, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Chorea, My...	OMIM:614254
Retinitis Pigmentosa 25	Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret...	OMIM:602772
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Developmental And Epileptic Encephalopathy 58	Optic atrophy	OMIM:617830
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Low-set ears, Ventriculomegaly, Lateral ventricle dilatation, Inability to walk, Dilated fourth v...	OMIM:613443
Dystonia 16	Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Bradykinesia	ORPHA:210571
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker m...	OMIM:618736
Unilateral Hemispheric Polymicrogyria	EEG with focal epileptiform discharges, Lateral ventricle dilatation, Hemiparesis	ORPHA:101071
Basal Ganglia Calcification, Idiopathic, 1	Bradykinesia, Chorea, Limb dysmetria, Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Dy...	OMIM:213600
Auditory Neuropathy, Autosomal Dominant 1	Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ...	OMIM:609129
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Vocal cord paralysis, Tremor	OMIM:158580
Optic Atrophy 16	Temporal optic disc pallor	OMIM:620629
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Decreased liver function, Tremor, Dysmetria, Sensorineural hearing impairment...	OMIM:614867
Spinocerebellar Ataxia 49	Diplopia, Cerebellar atrophy, Sensory axonal neuropathy, Dysmetria, Abnormality of extrapyramidal...	OMIM:619806
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Optic atrophy, Spasticity, Dilated third ventricle, Cerebellar atrophy, Resting tremor, Cerebral ...	ORPHA:314404
Diabetes Insipidus, Neurohypophyseal	Gliosis	OMIM:125700
L-2-Hydroxyglutaric Aciduria	Optic atrophy, Gliosis	OMIM:236792
Charcot-Marie-Tooth Disease Type 4C	Tongue fasciculations, Vocal cord paresis, Difficulty walking, Head tremor, Positive Romberg sign...	ORPHA:99949
Spastic Ataxia 9, Autosomal Recessive	Spasticity, Distal amyotrophy, Cerebellar vermis atrophy, Dysmetria, Hoffmann sign, Babinski sign...	OMIM:618438
Sodium-Dependent Multivitamin Transporter Deficiency	Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Cerebral palsy	OMIM:618973
Optic Atrophy 11	Increased variability in muscle fiber diameter, Hearing impairment, Cherry red spot of the macula...	OMIM:617302
Leukodystrophy, Hypomyelinating, 12	Optic atrophy, Ventriculomegaly, Spasticity, Cerebellar atrophy, Hearing impairment, Cerebral hyp...	OMIM:616683
Slowed Nerve Conduction Velocity, Autosomal Dominant	Decreased nerve conduction velocity, Peripheral demyelination, Onion bulb formation	OMIM:608236
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebral cortical atrophy, Skeletal muscle atroph...	OMIM:618291
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Optic atrophy, Ventriculomegaly, Cerebellar atrophy, Hearing impairment, Limb hypertonia, Unilate...	OMIM:618547
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development	Spastic paraplegia, Cerebellar atrophy, Lower limb muscle weakness, Impaired vibration sensation ...	OMIM:607565
Coenzyme Q10 Deficiency, Primary, 9	Type 2 muscle fiber predominance, Cerebellar atrophy, Myoclonus, Tremor, Dysmetria, Impaired tand...	OMIM:619028
Leukodystrophy, Hypomyelinating, 11	Spasticity, Failure to thrive, Myoclonus, Tremor, Ataxia	OMIM:616494
Leukoencephalopathy With Vanishing White Matter 4	Optic atrophy	OMIM:620314
Ceroid Lipofuscinosis, Neuronal, 10	Low-set ears, Spasticity, Cerebellar atrophy, Sensory axonal neuropathy, Cerebral atrophy, Increa...	OMIM:610127
Combined Oxidative Phosphorylation Deficiency 18	Skeletal muscle atrophy, Increased mitochondrial number, Tremor, Dysmetria, Decreased activity of...	OMIM:615578
Harel-Yoon Syndrome	Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Inability to walk, Hypertrophic...	OMIM:617183
Epilepsy, Familial Adult Myoclonic, 4	Myoclonus, Tremor	OMIM:615127
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Cerebellar atrophy, Cerebral atrophy, Myoclonus, Decreased activity of mitochondrial complex IV, ...	OMIM:619060
X-Linked Parkinsonism-Spasticity Syndrome	Spasticity, Spastic paraparesis, Dilated third ventricle, Resting tremor, Lateral ventricle dilat...	ORPHA:363654
Deafness, Dystonia, And Cerebral Hypomyelination	Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Sensorineural hearing impairment, Cerebral h...	OMIM:300475
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Optic atrophy, Ventriculomegaly, Spasticity, Cerebellar atrophy, Multiple joint contractures, Sen...	ORPHA:466934
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Ventriculomegaly, Type 2 muscle fiber predominance, Cerebellar atrophy, Skeletal muscle atrophy, ...	OMIM:615471
Spastic Paraplegia 81, Autosomal Recessive	Optic atrophy, Retinal vascular tortuosity	OMIM:618768
Mitochondrial Complex I Deficiency, Nuclear Type 34	Optic atrophy, Optic disc pallor	OMIM:618776
Central Neurocytoma	Pain insensitivity, Abnormality of vision, Abnormal lateral ventricle morphology, Paresthesia, Ti...	ORPHA:73256
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Ventriculomegaly, Undetectable visual evoked potentials, Hepatic failure, Visual i...	OMIM:259720
Boucher-Neuhauser Syndrome	Spasticity, Distal amyotrophy, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait a...	OMIM:215470
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Skeletal muscle atrophy, Inability ...	OMIM:617481
Lymphatic Malformation 8	Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric...	OMIM:618773
Glutamine Deficiency, Congenital	Low-set ears, CNS hypomyelination, Lateral ventricle dilatation, Brain atrophy, Camptodactyly, Fl...	OMIM:610015
Sandhoff Disease, Juvenile Form	Acroparesthesia, Cerebellar atrophy, Skeletal muscle atrophy, Fasciculations, Incoordination, Cer...	ORPHA:309162
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Babinski sign, Bradykinesia, Decreased activity of mitochondrial ...	OMIM:619063
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Optic atrophy	ORPHA:2787
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Bradykinesia, Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonism with favo...	ORPHA:314632
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Cerebellar atrophy, Elevated circulating alkaline phosphatase concentration, Low alkaline phospha...	OMIM:618879
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Ventriculomegaly, Decreased circulating carnitine concentration, Cerebellar atrophy, Leukodystrop...	ORPHA:431361
Leukodystrophy, Hypomyelinating, 6	Optic atrophy, Spasticity, Cerebellar atrophy, Leukodystrophy, Tremor, Rigidity, Cerebral hypomye...	OMIM:612438
Leukodystrophy, Hypomyelinating, 21	Optic atrophy, Cerebellar atrophy, Tetraparesis, Corpus callosum atrophy, Ataxia, Athetosis	OMIM:619310
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Low-set ears, Cerebral cortical atrophy, Abnormal electroretinogram, Abnormality of pattern visua...	ORPHA:166035
Cherubism	Optic atrophy	ORPHA:184
Spastic Paraplegia 45, Autosomal Recessive	Optic atrophy	OMIM:613162
Metachromatic Leukodystrophy	Optic atrophy, Decreased nerve conduction velocity, Chorea, Peripheral demyelination, Reduced leu...	OMIM:250100
Combined Oxidative Phosphorylation Deficiency 45	Failure to thrive, Tremor, Ataxia	OMIM:618951
Leukodystrophy, Hypomyelinating, 17	Cerebellar atrophy, Leukodystrophy, Cerebral atrophy, Inability to walk, Hypsarrhythmia, Flexion ...	OMIM:618006
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia	OMIM:605909
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Bradykinesia, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hype...	OMIM:613135
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Optic atrophy, Spasticity, Cerebral cortical atrophy, Cerebellar atrophy, CNS hypomyelination, Le...	OMIM:607694
Parkinson Disease 7, Autosomal Recessive Early-Onset	Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab...	OMIM:606324
Familial Or Sporadic Hemiplegic Migraine	Tongue fasciculations, Hearing impairment, Metamorphopsia, Hemiparesis, Involuntary movements, Sp...	ORPHA:569
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia	Impaired vibratory sensation, Spastic paraplegia, Proximal muscle weakness in lower limbs, Cerebe...	OMIM:620538
Distal Deletion 10Q	Low-set ears, Abnormality of the outer ear, Spasticity, Inferior cerebellar vermis hypoplasia, La...	ORPHA:96148
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Optic atrophy, Peripheral axonal neuropathy	OMIM:620221
Malan Overgrowth Syndrome	Ventriculomegaly, Optic disc hypoplasia, Lateral ventricle dilatation, Episodic ataxia, Optic dis...	ORPHA:420179
Juvenile Huntington Disease	Broad-based gait, Ventriculomegaly, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Gait a...	ORPHA:248111
Mesangial sclerosis, diffuse renal, with ocular abnormalities	Optic atrophy, Retinal arteriolar constriction	OMIM:249660
Pontocerebellar Hypoplasia, Type 3	Low-set ears, Optic atrophy, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Hearing impa...	OMIM:608027
Dystonia 24	Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia	OMIM:615034
Combined Oxidative Phosphorylation Defect Type 7	Optic atrophy, Spastic paraparesis, Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle...	ORPHA:254930
Retinitis Pigmentosa 43	Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re...	OMIM:613810
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Tongue fasciculations, Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Hand t...	OMIM:162400
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Distal amyotrophy, Decreased motor nerve conduction velocity, Distal sensory impairment, Decrease...	OMIM:607831
Hyperphenylalaninemia, Bh4-Deficient, C	Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis	OMIM:261630
Spastic Paraplegia 50, Autosomal Recessive	Ventriculomegaly, Cerebellar atrophy, Cerebral palsy, Babinski sign, Limb hypertonia, Ataxia, Opt...	OMIM:612936
Parkinson Disease 17	Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Spinocerebellar Ataxia 13	Optic atrophy, Spasticity, Cerebellar atrophy, Hearing impairment, Limb ataxia, Gait ataxia, Limb...	OMIM:605259
Dystonia 28, Childhood-Onset	Spasticity, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dystonia, Oromandibu...	OMIM:617284
Spinocerebellar Ataxia 46	Cerebellar atrophy, Sensory axonal neuropathy, Limb ataxia, Gait ataxia, Positive Romberg sign, D...	OMIM:617770
4H Leukodystrophy	Optic atrophy, Cerebellar atrophy, Tremor, Dysmetria, Abnormality of extrapyramidal motor functio...	ORPHA:289494
Band Heterotopia	Ventriculomegaly, Spasticity, Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocep...	OMIM:600348
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Cerebellar atrophy, EEG with burst suppression, Myoclonus, Cerebellar hypoplasia, Atrophy/Degener...	OMIM:619971
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Optic atrophy	ORPHA:1171
Hsd10 Disease, Infantile Type	Optic atrophy, Frontotemporal cerebral atrophy, Poor coordination, Hearing impairment, Cerebral a...	ORPHA:391428
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Hypoplasia of the pons, Hearing impairment, Abnormal motor evoked potentials, Difficulty walking,...	ORPHA:412057
Neurodevelopmental Disorder With Dystonia And Seizures	Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Chorea, EEG with photoparoxysmal...	OMIM:619922
Christianson Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Decreased muscle mass, Gait atax...	ORPHA:85278
Congenital Neuronal Ceroid Lipofuscinosis	Low-set ears, Ventriculomegaly, Spasticity, Cerebellar atrophy, Increased circulating lactate deh...	ORPHA:168486
Leukodystrophy, Hypomyelinating, 13	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Spasticity, Leukodystr...	OMIM:616881
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at...	OMIM:616948
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Low-set ears, Cerebellar vermis hypoplasia, Ventriculomegaly, Dilated third ventricle, Dysgenesis...	ORPHA:397715
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Hearing impairment, CNS hypomyelina...	ORPHA:369939
Global Developmental Delay With Or Without Impaired Intellectual Development	Low-set ears, Lateral ventricle dilatation, Ventricular septal defect, Atrial septal defect, Poor...	OMIM:618330
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Optic atrophy	OMIM:619052
Achalasia-Addisonianism-Alacrima Syndrome	Optic atrophy, Motor axonal neuropathy, Orthostatic hypotension, Abnormal autonomic nervous syste...	OMIM:231550
Spinocerebellar Ataxia 7	Spasticity, Chorea, Tremor, Dysmetria, Abnormality of extrapyramidal motor function, Babinski sig...	OMIM:164500
Spinocerebellar Ataxia 14	Cerebellar atrophy, Gait ataxia, Dysmetria, Facial myokymia, Impaired vibration sensation at ankl...	OMIM:605361
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Limb dystonia, Gait ataxia, Craniofacial dystonia, Parkinsonism, Torticollis, Bra...	ORPHA:71517
Cockayne Syndrome B	Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Cerebral atrophy, Per...	OMIM:133540
Joubert Syndrome 6	Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Chorioretinal coloboma, Dilated f...	OMIM:610688
Huntington Disease-Like 2	Bradykinesia, Chorea, Action tremor, Rigidity, Weight loss, Dystonia	OMIM:606438
Tay-Sachs Disease	Hearing impairment, Lower limb muscle weakness, Cherry red spot of the macula, Incoordination, Vi...	ORPHA:845
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Impaired vibratory sensation, Cerebellar atrophy, Impaired pain sensation, Cerebellar vermis atro...	OMIM:614575
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Myoclonus, Tremor	OMIM:615400
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment	OMIM:601071
Adult-Onset Autosomal Dominant Leukodystrophy	Spasticity, Tetraparesis, Autonomic bladder dysfunction, Action tremor, Distal sensory impairment...	ORPHA:99027
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Muscular dystrophy, Cardiomyopathy, Absent muscle fiber merosin, Inability to walk, Muscle fiber ...	ORPHA:258
Leg, Absence Deformity Of, With Congenital Cataract	Optic nerve dysplasia	OMIM:246000
Ruvalcaba Syndrome	Intrauterine growth retardation, Delayed puberty, Abnormal electroretinogram, Abnormality of visu...	ORPHA:3121
Succinic Semialdehyde Dehydrogenase Deficiency	Cerebellar atrophy, Increased level of gamma-aminobutyric acid in urine, Hyperkinetic movements, ...	OMIM:271980
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Optic atrophy, Facial palsy	ORPHA:178377
Ravine Syndrome	Spasticity, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem, At...	ORPHA:99852
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Broad-based gait, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Gait ataxia, Intenti...	OMIM:224050
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Spasticity, Lateral ventricle dilatation, Cerebral palsy, Cerebral atrophy, Myoclonus, Sensorineu...	OMIM:619847
Craniosynostosis 6	Cerebellar atrophy, Lateral ventricle dilatation, Agenesis of corpus callosum, Sensorineural hear...	OMIM:616602
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d...	OMIM:606703
Aicardi-Goutieres Syndrome 9	Optic atrophy, Spasticity, Elevated circulating hepatic transaminase concentration, Lateral ventr...	OMIM:619487
Autosomal Recessive Spastic Paraplegia Type 55	Optic atrophy, Spasticity, Spastic paraparesis, Skeletal muscle atrophy, Upper limb muscle weakne...	ORPHA:320375
Chudley-Mccullough Syndrome	Ventriculomegaly, Cerebellar dysplasia, Cerebellar hypoplasia, Dysplastic corpus callosum, Hydroc...	OMIM:604213
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or...	ORPHA:420485
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Distal amyotrophy, Progressive spastic paraplegia, Difficulty walking, Impaired vi...	ORPHA:320406
Developmental And Epileptic Encephalopathy 71	Gliosis	OMIM:618328
Adrenomyeloneuropathy	Spasticity, Leg muscle stiffness, Progressive spastic paraparesis, Distal sensory impairment, Axo...	ORPHA:139399
Seizures, Cortical Blindness, And Microcephaly Syndrome	Optic atrophy	OMIM:616632
Spinocerebellar Ataxia, Autosomal Recessive 21	Spasticity, Impaired pain sensation, Paresthesia, Gait ataxia, Limb ataxia, Distal sensory impair...	OMIM:616719
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased variability in muscle fiber diameter, Ventriculomegaly, Cerebellar atrophy, Cerebral at...	OMIM:604377
Retinitis Pigmentosa 14	Optic disc pallor, Rod-cone dystrophy, Retinal arteriolar constriction, Bone spicule pigmentation...	OMIM:600132
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Broad-based gait, Diplopia, Cerebellar atrophy, Difficulty walking,...	ORPHA:284324
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia,...	OMIM:617145
Dystonia 12	Bradykinesia, Tremor, Parkinsonism, Torticollis, Dystonia	OMIM:128235
Metachromatic Leukodystrophy	Visual impairment, Tip-toe gait, Hearing impairment, Incoordination, Decreased nerve conduction v...	ORPHA:512
Huntington Disease-Like 1	Cerebral cortical atrophy, Involuntary movements, Ventriculomegaly, Cerebellar atrophy, Incoordin...	ORPHA:157941
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Somatic sensory dysfunction, Hearing impairment, Skeletal muscle atrophy, Hea...	ORPHA:98771
Retinitis Pigmentosa 56	Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig...	OMIM:613581
Dpm1-Cdg	Optic atrophy, Ventriculomegaly, Spasticity, Cerebellar atrophy, Muscular dystrophy, Cerebral atr...	ORPHA:79322
Spinocerebellar Ataxia 17	Broad-based gait, Cerebellar atrophy, Chorea, Limb ataxia, Positive Romberg sign, Gait ataxia, Dy...	OMIM:607136
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Optic atrophy, Spasticity, Cerebellar atrophy, CNS hypomyelination, Leukodystrophy, Cerebellar ve...	OMIM:614381
Molybdenum Cofactor Deficiency, Type A	Ventriculomegaly, Increased urinary taurine, Sulfite oxidase deficiency, Cerebral atrophy, Aldehy...	OMIM:252150
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Upper limb muscle weakness, Decreased muscle glycogen content, Decreased...	ORPHA:263297
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia	ORPHA:324588
Autosomal Dominant Progressive External Ophthalmoplegia	Resting tremor, Hearing impairment, Limb muscle weakness, Myopathy, Peripheral axonal neuropathy,...	ORPHA:254892
Opticocochleodentate Degeneration	Optic atrophy	OMIM:258700
Spinocerebellar Ataxia, Autosomal Recessive 6	Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor	OMIM:608029
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Tongue fasciculations, Diplopia, Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy,...	OMIM:618170
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling, Lateral ventricle dilatation, Beta-alaninuria, Delayed CNS m...	OMIM:614105
Retinitis Pigmentosa 72	Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret...	OMIM:616469
Developmental And Epileptic Encephalopathy 32	Myoclonus, Tremor, Ataxia	OMIM:616366
Congenital Disorder Of Glycosylation, Type Iaa	Optic disc pallor, Attenuation of retinal blood vessels	OMIM:617082
D-2-Hydroxyglutaric Aciduria 1	Lateral ventricle dilatation, Cardiomyopathy, Delayed CNS myelination, Hypsarrhythmia, Cerebral v...	OMIM:600721
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor	OMIM:616732
Mogs-Cdg	Optic atrophy, Sensorineural hearing impairment, Cardiomegaly, Left ventricular hypertrophy, Abse...	ORPHA:79330
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:620482
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys...	OMIM:616127
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Decreased nerve conduction velocity, Impaired vibration sensation in the lowe...	OMIM:159550
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Leukodystrophy, Cerebral atrophy, Tremor, Dysmetria, Loss of ambulation, Lowe...	OMIM:617916
Spinocerebellar Ataxia, Autosomal Recessive 10	Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal a...	OMIM:613728
Den Hoed-De Boer-Voisin Syndrome	Spasticity, Ventriculomegaly, Global brain atrophy, Lateral ventricle dilatation, Abnormality of ...	OMIM:619229
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Abnormal optic disc morphology, Vitreoretinopathy, Retinal vascular tortuosity	ORPHA:440727
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome	Optic atrophy, Retrobulbar optic neuritis	ORPHA:3151
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Optic atrophy, Ventriculomegaly, Hearing impairment, Cerebral palsy, Colpocephaly, Delayed CNS my...	OMIM:619833
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Optic atrophy, Spasticity, Cerebellar atrophy, Hypertrophic cardiomyopathy, Gait ataxia, Peripher...	ORPHA:496790
3-Methylglutaconic Aciduria, Type Iii	Optic atrophy	OMIM:258501
Ceroid Lipofuscinosis, Neuronal, 3	Optic atrophy, Macular degeneration, Rod-cone dystrophy, Retinal degeneration	OMIM:204200
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy	OMIM:602271
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Broad-based gait, Cerebellar atrophy, Decreased liver function, Difficulty walking, Cerebellar ve...	ORPHA:512260
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Tremor, Rigidity, Parki...	ORPHA:329284
Branchiogenic-Deafness Syndrome	Short stature, Branchial fistula, Branchial cyst	OMIM:609166
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Spasticity, Pigmentary retinopathy, Hepatic failure, Dilated cardiomyopathy, Hyper...	ORPHA:255210
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Optic atrophy, Gliosis, Abnormal autonomic nervous system physiology	OMIM:614498
Glutaric Acidemia I	Lateral ventricle dilatation, Symmetrical progressive peripheral demyelination, Reduced peroxisom...	OMIM:231670
Developmental And Epileptic Encephalopathy 48	Cerebellar atrophy, Cerebral atrophy, Hypsarrhythmia, Limb hypertonia, Rod-cone dystrophy, Optic ...	OMIM:617276
Mitochondrial Complex I Deficiency, Nuclear Type 37	Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Skeletal muscle atrophy, Cerebra...	OMIM:619272
Developmental And Epileptic Encephalopathy 37	Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Cogwheel rigidity, Myoclonus, Rigidity,...	OMIM:616981
Cataract-Ataxia-Deafness Syndrome	Hypertonia, Tremor, Ataxia	ORPHA:1368
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Pain insensitivity, Ataxia, Distal amyotrophy, Global brain atrophy, Cerebellar vermis atrophy, I...	ORPHA:94124
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia	OMIM:617836
Verheij Syndrome	Branchial cyst, Intrauterine growth retardation, Ventricular septal defect, Truncus arteriosus, S...	OMIM:615583
X-Linked Charcot-Marie-Tooth Disease Type 1	Impaired pain sensation, Tremor, Ataxia	ORPHA:101075
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Inability to walk, Extrapyramidal muscular rigidity, Action tremor, Dysmetria...	ORPHA:93952
Early-Onset X-Linked Optic Atrophy	Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity	ORPHA:98890
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Myoclonus, Tremor, Decreased level of coenzyme Q10 in skeletal muscle, Abnorm...	OMIM:612016
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Cer...	OMIM:203700
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Myoclonus, Gait ataxia, Tremor, Truncal ataxia	OMIM:618587
Warburg Micro Syndrome 2	Optic atrophy, Undetectable visual evoked potentials, Global brain atrophy, Asymmetry of the ears...	OMIM:614225
Craniodiaphyseal Dysplasia	Optic atrophy	ORPHA:1513
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia	OMIM:606658
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar vermis hypoplasia, Elevated circulating hepatic transaminase concentration, Cerebellar...	OMIM:212065
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Involuntary movements, Lateral ventricle dilatation, Inability to walk, Large earlobe, Elevated c...	OMIM:615716
Developmental And Epileptic Encephalopathy 93	Optic atrophy, Cerebellar atrophy, CNS hypomyelination, Cerebral atrophy, Inability to walk, Gait...	OMIM:618012
X-Linked Mandibulofacial Dysostosis	Webbed neck, Branchial anomaly, Abnormal mitral valve morphology, Short stature, Pulmonic stenosis	ORPHA:1131
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Cupped ear, Lateral ventricle dilatation, Cerebral palsy, Joint contracture of the 5th finger, Jo...	OMIM:618914
Stxbp1-Related Encephalopathy	Spasticity, Tremor, Ataxia, Dystonia, Spastic tetraplegia	ORPHA:599373
Severe Intellectual Disability And Progressive Spastic Paraplegia	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Progressive spastic paraplegia, Diffic...	ORPHA:280763
Spinocerebellar Ataxia 11	Cerebellar atrophy, Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebel...	OMIM:604432
Myoclonic-Atonic Epilepsy	Eyelid myoclonus, Tremor, Ataxia	OMIM:616421
Cognitive Impairment With Or Without Cerebellar Ataxia	Cerebellar atrophy, Gait ataxia, Dysmetria, Amblyopia, Ataxia, Optic nerve hypoplasia	OMIM:614306
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Gliosis, Amyotrophic lateral sclerosis	OMIM:105550
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Increased variability in muscle fiber diameter, Cerebellar atrophy, Inability to walk, Gait ataxi...	OMIM:617915
Lipoyltransferase 1 Deficiency	Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, De...	OMIM:616299
Choreoacanthocytosis	Resting tremor, Lateral ventricle dilatation, Muscle fiber atrophy, Myopathy, Loss of ambulation,...	ORPHA:2388
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Low-set ears, Parietal cortical atrophy, Lateral ventricle dilatation, Patent foramen ovale, Sens...	OMIM:620075
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Muscular dystrophy, Hypoplasia of the pons, Cerebellar dysplasia, Blindness, Cerebellar hypoplasi...	OMIM:615181
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Spasticity, Cerebral atrophy, Cerebellar vermis atrophy, Delayed CNS myelination, Dandy-Walker ma...	OMIM:616154
Leukoencephalopathy With Ataxia	Choroidal neovascularization, Retinoschisis, Optic neuropathy, Chorioretinal atrophy	OMIM:615651
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Spasticity, Cerebellar atrophy, CNS hypomyelination, Leukodystrophy, Limb ataxia, Abnormal pyrami...	OMIM:617560
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Gait ataxia, Multiple joint contractures, Dysmetria, Intention tremor, Babinski sign, Vestibular ...	ORPHA:504476
Spinocerebellar Ataxia Type 13	Optic atrophy, Cerebellar atrophy, Hearing impairment, Difficulty walking, Limb ataxia, Gait atax...	ORPHA:98768
Fatty Acyl-Coa Reductase 1 Deficiency	Cerebellar atrophy, Macrotia, Inability to walk, Spastic tetraparesis, Dandy-Walker malformation	ORPHA:438178
Aicardi-Goutieres Syndrome 4	Low-set ears, Ventriculomegaly, Spasticity, Cerebellar atrophy, Elevated circulating hepatic tran...	OMIM:610333
Epilepsy, Familial Adult Myoclonic, 1	Tremor	OMIM:601068
Brunet-Wagner Neurodevelopmental Syndrome	Optic atrophy, Cerebellar atrophy, Cerebral atrophy	OMIM:619690
Autosomal Recessive Spastic Paraplegia Type 78	Cerebral cortical atrophy, Cerebellar atrophy, Sensory axonal neuropathy, Progressive spastic par...	ORPHA:513436
Spinocerebellar Ataxia, Autosomal Recessive 27	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Gait imbalance, Gait ataxia, Spastic a...	OMIM:618369
Bilateral Generalized Polymicrogyria	Spasticity, Lateral ventricle dilatation, Cerebral visual impairment, Eyelid myoclonus, Paroxysma...	ORPHA:208447
Spinocerebellar Ataxia Type 2	Cerebral cortical atrophy, Spinal cord posterior columns myelin loss, Fasciculations, Chorea, Pos...	ORPHA:98756
Cerebrooculofacioskeletal Syndrome 1	Ventriculomegaly, Joint contracture of the hand, Cerebellar atrophy, Arthrogryposis multiplex con...	OMIM:214150
Srd5A3-Cdg	Optic atrophy, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Optic...	ORPHA:324737
Spinocerebellar Ataxia 5	Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Incoordination, Limb ataxia, ...	OMIM:600224
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive	Cerebellar atrophy	OMIM:615596
Congenital Disorder Of Glycosylation, Type Iig	Low-set ears, Cerebellar vermis hypoplasia, Cerebellar atrophy, Lateral ventricle dilatation, Con...	OMIM:611209
Urocanic Aciduria	Truncal ataxia, Gait ataxia, Action tremor, Ataxia	ORPHA:210128
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Dysmetria, Hypomimic face	ORPHA:320385
Congenital Disorder Of Glycosylation, Type Id	Optic atrophy, Joint contracture of the hand, Cerebellar atrophy, Arthrogryposis multiplex congen...	OMIM:601110
Leber Congenital Amaurosis	Abnormal optic disc morphology, Abnormality of retinal pigmentation	ORPHA:65
Wildervanck Syndrome	Pseudopapilledema	OMIM:314600
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Sensory axonal neuropathy, Hand tremor, Difficulty walking, Akinesia, Limb at...	ORPHA:98764
Dystonia 7, Torsion	Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu...	OMIM:602124
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Spasticity, Progressive spastic paraplegia, Cerebral atrophy, Difficulty walking, Sensorineural h...	ORPHA:464282
Developmental Delay With Or Without Epilepsy	EEG with frontal focal spikes, Spasticity, Cerebellar atrophy, Lower limb muscle weakness, EEG wi...	OMIM:620540
Immunodeficiency 83, Susceptibility To Viral Infections	Gliosis	OMIM:613002
Dystonia 22, Juvenile-Onset	Cerebellar atrophy, Intention tremor, Dysmetria, Lower limb spasticity, Torticollis, Dysdiadochok...	OMIM:620453
Leber Congenital Amaurosis 16	Optic disc pallor	OMIM:614186
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Spasticity, Shuffling gait, Macular degeneration, Resting tremor, Akinesia, Gait ataxia, Intentio...	ORPHA:247234
Spinocerebellar Ataxia, Autosomal Recessive 15	Cerebellar atrophy, Unsteady gait, Gait ataxia, Ataxia	OMIM:615705
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Low-set ears, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Dilated...	ORPHA:79282
Retinitis Pigmentosa 60	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:613983
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetr...	OMIM:618090
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Spasticity, Hypoplasia of the pons, Hearing impairment, Retinal coloboma, Dilated fourth ventricl...	OMIM:300749
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Ataxia, Spasticity, Laryngeal dystonia, Bradykinesia, Chorea, Tremor, Rigidity, Ba...	OMIM:606159
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Gait ataxia, Tremor, Ataxia	OMIM:617831
Combined Saposin Deficiency	Optic atrophy	OMIM:611721
Episodic Ataxia Type 6	Diplopia, Cerebellar atrophy, Vertigo, Hemiplegia, Reduced visual acuity, Ataxia, Photophobia, Sl...	ORPHA:209967
Monomelic Amyotrophy	Tremor, Fasciculations	ORPHA:65684
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Low-set ears, Cerebellar vermis hypoplasia, CNS hypomyelination, Optic disc hypoplasia, Dilated f...	OMIM:619306
Spinocerebellar Atrophy With Pupillary Paralysis	Spinocerebellar atrophy	OMIM:183100
X-Linked Charcot-Marie-Tooth Disease Type 4	Impaired pain sensation, Tremor, Ataxia	ORPHA:101078
Parkinsonism-Dystonia 3, Childhood-Onset	Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia	OMIM:619738
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic atrophy, Optic disc pallor	OMIM:612989
Developmental And Epileptic Encephalopathy 99	Ventriculomegaly, Frontotemporal cerebral atrophy, Cerebellar atrophy, Delayed CNS myelination, A...	OMIM:619606
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ...	OMIM:618697
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Spasticity, Cerebellar atrophy, Situs inversus totalis, Agenesis of corpus callosum, Dysplastic c...	OMIM:614833
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Difficulty walking, Ga...	ORPHA:488627
Epilepsy, Familial Adult Myoclonic, 3	Myoclonus, Tremor	OMIM:613608
Parkinson Disease 2, Autosomal Recessive Juvenile	Pill-rolling tremor, Resting tremor, Bradykinesia, Postural tremor, Gait ataxia, Cogwheel rigidit...	OMIM:600116
Neuroectodermal Melanolysosomal Disease	Optic atrophy, Abnormal optic nerve morphology, Macular dystrophy, Aplasia/Hypoplasia of the macula	ORPHA:33445
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Spasticity, Diplopia, Cerebellar atrophy, Intention tremor, Dysmetria, Progressive gait ataxia, T...	ORPHA:352403
Spastic Paraplegia 20, Autosomal Recessive	Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Distal amyotrophy, Lower limb muscle...	OMIM:275900
Hyperphenylalaninemia, Bh4-Deficient, A	Small for gestational age, Bradykinesia, Tremor, Rigidity, Parkinsonism, Limb hypertonia, Hyperto...	OMIM:261640
Spinocerebellar Ataxia 42	Loss of Purkinje cells in the cerebellar vermis, Diplopia, Cerebellar atrophy, Tremor, Babinski s...	OMIM:616795
Neuromuscular Oculoauditory Syndrome	Sensory axonal neuropathy, Decreased amplitude of sensory action potentials, Retinal pigment epit...	OMIM:618733
X-Linked Charcot-Marie-Tooth Disease Type 2	Clasp-knife sign, Slow decrease in visual acuity, Spastic paraparesis, Decreased motor nerve cond...	ORPHA:101076
Neurodegeneration With Brain Iron Accumulation 4	Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Neurodegeneration, Tremor, Abno...	OMIM:614298
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Muscular dystrophy, Hypoplasia of the pons, Cerebellar dysplasia, Cerebellar cy...	OMIM:613153
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Hearing impairment, Myoclonus, Tremor, Abnormal pyramidal sign, Progressive c...	ORPHA:139485
Episodic Ataxia, Type 6	Diplopia, Cerebellar atrophy, Episodic ataxia, Vertigo, Hemiplegia, Hemiparesis, Cerebellar hypop...	OMIM:612656
Pontocerebellar Hypoplasia, Type 2B	Cerebellar vermis hypoplasia, Spasticity, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy,...	OMIM:612389
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Jalili Syndrome	Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph...	OMIM:217080
Developmental And Epileptic Encephalopathy 16	Optic atrophy	OMIM:615338
Developmental And Epileptic Encephalopathy 14	Gliosis	OMIM:614959
Superficial Siderosis	Lower limb muscle weakness, Abnormality of the brachial nerve plexus, Abnormal pyramidal sign, At...	ORPHA:247245
Molybdenum Cofactor Deficiency, Type B	Ventriculomegaly, Increased urinary taurine, Cerebral atrophy, Peripheral demyelination, Diffuse ...	OMIM:252160
Cog8-Cdg	Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Sk...	ORPHA:95428
Spinocerebellar Ataxia, Autosomal Recessive 14	Spasticity, Cerebellar atrophy, Gait ataxia, Intention tremor, Dysmetria, Unsteady gait, Dysdiado...	OMIM:615386
Ceroid Lipofuscinosis, Neuronal, 1	Optic atrophy, Macular degeneration, Retinal degeneration	OMIM:256730
Neuropathy, Congenital Hypomyelinating, 3	Low-set ears, Spasticity, Cerebellar atrophy, Hearing impairment, Decreased motor nerve conductio...	OMIM:618186
Joubert Syndrome 15	Exencephaly	OMIM:614464
Methionine Adenosyltransferase I/Iii Deficiency	Peripheral demyelination, CNS demyelination	OMIM:250850
Autosomal Recessive Ataxia, Beauce Type	Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Sensory axonal neuropathy, Lower li...	ORPHA:88644
Barth Syndrome	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Skeletal myopath...	OMIM:302060
Developmental And Epileptic Encephalopathy 31B	Low-set ears, Optic atrophy, Involuntary movements, Ventriculomegaly, Myoclonus, Appendicular spa...	OMIM:620352
Slc39A8-Cdg	Low-set ears, Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Hearing impairment...	ORPHA:468699
Cerebral Creatine Deficiency Syndrome 2	Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ...	OMIM:612736
Eales Disease	Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb...	ORPHA:40923
Pontocerebellar Hypoplasia, Type 2A	Optic atrophy, Gliosis	OMIM:277470
Wolfram-Like Syndrome	Optic atrophy, Peripheral axonal neuropathy	ORPHA:411590
Parkinsonism-Dystonia 2, Infantile-Onset	Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdiadochokinesis	OMIM:618049
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Hearing impairment, Cochlear degeneration, Difficulty walking, Impaired vibration ...	ORPHA:95433
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Amaurosis-Hypertrichosis Syndrome	Optic atrophy, Retinal dystrophy, Cone/cone-rod dystrophy	ORPHA:1021
Retinal Dystrophy And Microvillus Inclusion Disease	Optic disc pallor	OMIM:619446
Spinocerebellar Ataxia 27B, Late-Onset	Diplopia, Cerebellar atrophy, Vertigo, Postural tremor, Limb ataxia, Gait ataxia	OMIM:620174
Coenzyme Q10 Deficiency, Primary, 1	Hepatic failure, Cerebellar atrophy, Hypertrophic cardiomyopathy, Myoclonus, Ragged-red muscle fi...	OMIM:607426
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Ventriculomegaly, Spasticity, Muscular dystrophy, Retinal dysplasia, Undetectable ...	OMIM:253280
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Myoclonus, Trun...	OMIM:607346
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Impaired distal tactile sensation, Impaired distal vibration sensation, Decreased number of perip...	OMIM:607080
Congenital Disorder Of Glycosylation, Type Ie	Optic atrophy, Ankle flexion contracture, Muscular dystrophy, Elevated circulating hepatic transa...	OMIM:608799
X-Linked Dystonia-Parkinsonism	Blepharospasm, Resting tremor, Hand tremor, Torsion dystonia, Progressive extrapyramidal muscular...	ORPHA:53351
Zaki Syndrome	Cerebellar vermis hypoplasia, Cupped ear, Dilated fourth ventricle, Congenital diaphragmatic hern...	OMIM:619648
Spinocerebellar Ataxia, Autosomal Recessive 26	Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxi...	OMIM:617633
Dystonia 2, Torsion, Autosomal Recessive	Blepharospasm, Torsion dystonia, Tremor, Torticollis	OMIM:224500
Branchiootic Syndrome 3	Branchial cyst	OMIM:608389
Spinocerebellar Ataxia 36	Tongue fasciculations, Cerebellar atrophy, Hearing impairment, Skeletal muscle atrophy, Fascicula...	OMIM:614153
Developmental And Epileptic Encephalopathy 65	Ventriculomegaly, Spasticity, Cerebellar atrophy, Cerebral atrophy, EEG with burst suppression, H...	OMIM:618008
Pontocerebellar Hypoplasia, Type 4	Gliosis	OMIM:225753
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Gordon Holmes Syndrome	Chorea, Cerebellar atrophy, Cerebral atrophy, Ataxia	OMIM:212840
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To	Nonarteritic anterior ischemic optic neuropathy	OMIM:258660
Lopes-Maciel-Rodan Syndrome	Spasticity, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Cerebellar vermis atrophy, Tremor...	OMIM:617435
Microcephaly 10, Primary, Autosomal Recessive	Spasticity, Cerebellar atrophy, Cerebral atrophy, Agenesis of corpus callosum, Delayed CNS myelin...	OMIM:615095
Spinocerebellar Ataxia Type 17	Blepharospasm, Involuntary movements, Spasticity, Cerebellar atrophy, Chorea, Rigidity, Parkinson...	ORPHA:98759
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation, Recurrent otitis media, Dextrotransposition of the great arteries, ...	OMIM:619995
Peho Syndrome	Optic atrophy, Ventriculomegaly, Cerebral cortical atrophy, Cerebellar atrophy, Visual loss, Hyps...	ORPHA:2836
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia	ORPHA:250972
Developmental And Epileptic Encephalopathy 98	EEG with burst suppression, Cerebellar atrophy, Cerebral atrophy	OMIM:619605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Optic atrophy	OMIM:613151
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Cerebral cortical atrophy, Spasticity, Lateral ventricle dilatation, Hearing impairment, Flexion ...	OMIM:300868
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia	OMIM:618637
Developmental And Epileptic Encephalopathy 95	Hypoplasia of the pons, Hearing impairment, Elevated circulating alkaline phosphatase concentrati...	OMIM:618143
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Spasticity, Dilated third ventricle, Lateral ventricle dilatation, Inability to walk, Retinal art...	OMIM:620371
Developmental And Epileptic Encephalopathy 42	Tremor, Hypertonia, Ataxia, Flexion contracture, Athetosis	OMIM:617106
Epilepsy, Progressive Myoclonic, 6	Myoclonus, Tremor, Ataxia	OMIM:614018
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Gait ataxia, Action tremor...	ORPHA:101
Spinocerebellar Ataxia 10	Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Limb ataxia, Gait ataxia...	OMIM:603516
Cerebrotendinous Xanthomatosis	Spasticity, Tendon xanthomatosis, Cerebellar atrophy, Lower limb muscle weakness, Pseudobulbar pa...	OMIM:213700
Spinocerebellar Ataxia 44	Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Tinnitus, Ataxia, Frequent falls, Dysdiad...	OMIM:617691
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Low-set ears, Lateral ventricle dilatation, Abnormal heart morphology, Patent foramen ovale, Cong...	ORPHA:457279
Myopathy With Extrapyramidal Signs	Optic atrophy, Elevated circulating hepatic transaminase concentration, Difficulty walking, Cereb...	OMIM:615673
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Optic atrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Decreased activity of mitoch...	OMIM:616896
Huntington Disease	Cerebellar atrophy, Chorea, Gait ataxia, Rigidity, Neuronal loss in central nervous system, Brady...	OMIM:143100
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Retinal detachment, Chorioretinal coloboma	ORPHA:1473
Marinesco-Sjogren Syndrome	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Spasticity, Cerebellar atrophy, Skel...	OMIM:248800
Mitochondrial Complex I Deficiency, Nuclear Type 27	Optic atrophy	OMIM:618248
Spastic Ataxia 4, Autosomal Recessive	Optic atrophy	OMIM:613672
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Distal amyotrophy, Cerebellar atrophy, Decreased motor nerve conduction velocity, Chorea, Limb at...	OMIM:606002
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Blindness, Cerebellar hypoplasia, Protruding ear, Colpocephaly, Delayed CNS myelination	OMIM:618731
Isolated Atp Synthase Deficiency	Spastic paraplegia, Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Dilated cardiom...	ORPHA:254913
Fanconi Anemia, Complementation Group I	Chiari malformation, Conductive hearing impairment, Patent foramen ovale, Ventricular septal defe...	OMIM:609053
Congenital Disorder Of Glycosylation, Type Iih	Ventriculomegaly, Cerebellar atrophy, Elevated circulating aspartate aminotransferase concentrati...	OMIM:611182
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Dilated ...	ORPHA:261183
Paganini-Miozzo Syndrome	Low-set ears, Lateral ventricle dilatation, High myopia, Posteriorly rotated ears, Microtia	OMIM:301025
Pontocerebellar Hypoplasia, Type 1D	Low-set ears, Tongue fasciculations, Spasticity, Cerebral cortical atrophy, Cerebellar atrophy, C...	OMIM:618065
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Cerebellar atrophy, Decreased nerve conduction velocity, Myoclonus, Intention tremor, Dysmetria, ...	OMIM:618356
Charcot-Marie-Tooth Disease Type 4B2	Optic atrophy, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, ...	ORPHA:99956
Holoprosencephaly 5	Hydrocephalus, Lateral ventricle dilatation, Macrotia	OMIM:609637
Sclerosteosis	Optic atrophy, Facial palsy	ORPHA:3152
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Ventriculomegaly, Chorioretinal coloboma, Sensorineural hearing impairment, Agenes...	OMIM:615219
Abetalipoproteinemia	Peripheral demyelination, Retinopathy, Retinal degeneration, CNS demyelination, Ataxia	OMIM:200100
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Broad-based gait, Diplopia, Cerebellar atrophy, Dysmetria, Sensorineural hearing impairment, Ataxia	OMIM:618098
Severe Neurodegenerative Syndrome With Lipodystrophy	Poor motor coordination, Spasticity, Tetraparesis, Generalized lipodystrophy, Gait ataxia, Reduce...	ORPHA:363400
Spinocerebellar Ataxia, Autosomal Recessive 20	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Hearing impairment, Inability to walk,...	OMIM:616354
Developmental And Epileptic Encephalopathy 67	Cerebellar atrophy, Gait disturbance, Hypsarrhythmia, EEG abnormality, Athetosis	OMIM:618141
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Progressive spasticity, Lateral ventricle dilatation	OMIM:619972
Hereditary Methemoglobinemia	Spasticity, Temporal cortical atrophy, Cerebellar atrophy, Global brain atrophy, Cerebral hypomye...	ORPHA:621
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Cerebellar atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait	ORPHA:284271
Fatty Acid Hydroxylase-Associated Neurodegeneration	Optic atrophy, Slow decrease in visual acuity, Falls, Cerebellar atrophy, Progressive spastic par...	ORPHA:329308
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Optic atrophy, Cerebellar atrophy, Babinski sign, Clonus, EEG abnormality, Prolonged neonatal jau...	OMIM:618868
Pontocerebellar Hypoplasia, Type 1B	Tongue fasciculations, Spasticity, Cerebellar atrophy, Skeletal muscle atrophy, Cerebral atrophy,...	OMIM:614678
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Spasticity, Broad-based gait, Hearing impairment, Leukodystrophy, Chorioretinal coloboma, Neurode...	OMIM:619475
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Optic atrophy, Sensory axonal neuropathy	ORPHA:329314
Trigeminal Neuralgia	Somatic sensory dysfunction, Cranial nerve compression, Peripheral demyelination, Paresthesia, CN...	ORPHA:221091
Pontocerebellar Hypoplasia, Type 2E	Optic atrophy, Spasticity, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Large earlobe,...	OMIM:615851
Congenital Disorder Of Glycosylation, Type Iin	Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Inability to walk, Cerebellar vermis at...	OMIM:616721
Joubert Syndrome 30	Ventriculomegaly, Cerebellar atrophy, Agenesis of corpus callosum, Reduced visual acuity, Retinal...	OMIM:617622
Peroxisome Biogenesis Disorder 5A (Zellweger)	Low-set ears, Elevated gamma-glutamyltransferase level, Abnormal helix morphology, Hearing impair...	OMIM:614866
Aminoacylase 1 Deficiency	Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Sensorineural hearing impairment...	OMIM:609924
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Tongue fasciculations, Ventriculomegaly, Optic atrophy, Cerebellar atrophy, CNS hypomyelination, ...	OMIM:617193
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Aminoaciduria, Elevated gamma-glutamyltransferase level, Spasticity, Elevated circulating hepatic...	OMIM:124000
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome	Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Babinski sign, Atrophy of the spinal cord, Dem...	ORPHA:445062
Spastic Paraplegia 51, Autosomal Recessive	Spastic paraplegia, Spasticity, Ventriculomegaly, Cerebellar atrophy, Prominent antihelix, Decrea...	OMIM:613744
Warburg Micro Syndrome 4	Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Decreased motor nerve conduction ve...	OMIM:615663
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Optic atrophy	OMIM:619470
Autosomal Recessive Spastic Paraplegia Type 39	Spastic paraplegia, Cerebellar atrophy, Generalized limb muscle atrophy, Gait ataxia, Motor axona...	ORPHA:139480
Glut1 Deficiency Syndrome 2	Dystonia, Choreoathetosis, Tremor, Ataxia	OMIM:612126
Craniodiaphyseal Dysplasia, Autosomal Dominant	Optic atrophy, Papilledema, Facial diplegia	OMIM:122860
Alpha-Mannosidosis, Adult Form	Macroglossia, Cerebral cortical atrophy, Cerebellar atrophy, Clumsiness, Myopia, Ataxia, Mixed he...	ORPHA:309288
Peroxisome Biogenesis Disorder 6A (Zellweger)	Low-set ears, Colpocephaly, Decreased liver function	OMIM:614870
Hermansky-Pudlak Syndrome	Abnormal optic nerve morphology, Ocular albinism, Amblyopia, Myopia, Visual impairment, Photophob...	ORPHA:79430
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Cerebellar atrophy, CNS hypomyelination, Leukodystrophy, Cerebral atrophy, Difficulty walking, He...	ORPHA:527497
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation, Cerebral palsy, Poor gross motor coordination, Hypsarrhythmia, Flex...	ORPHA:2148
Craniofacial Microsomia 2	Dermal sinus tract	OMIM:620444
Episodic Ataxia Type 1	Diplopia, Cerebellar atrophy, Tip-toe gait, Vertigo, Blurred vision, Clumsiness, Calf muscle hype...	ORPHA:37612
Spinocerebellar Ataxia 34	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Fasciculations, Limb ataxia, Gait atax...	OMIM:133190
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Optic atrophy, Spasticity, Cerebral cortical atrophy, Cerebellar atrophy, CNS hypomyelination, Le...	OMIM:619576
Spastic Ataxia 3, Autosomal Recessive	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Hearing impairment, Cerebellar vermis ...	OMIM:611390
Narp Syndrome	Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d...	ORPHA:644
Neuropathy, Hereditary Sensory, Type Ie	Hearing impairment, Cerebral atrophy, Sensorineural hearing impairment, Decreased number of perip...	OMIM:614116
Combined Oxidative Phosphorylation Deficiency 32	Optic atrophy, Spasticity, Cerebellar atrophy, Inability to walk, Tremor, Joint contracture, Chor...	OMIM:617664
Leber Optic Atrophy	Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Leber optic atrophy	OMIM:535000
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia, Sma...	ORPHA:70594
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Spasticity, Cerebellar atrophy, Interictal EEG abnormality, Sensorineural hearing impairment, Cer...	ORPHA:544503
Pelizaeus-Merzbacher Disease	Spastic paraplegia, Broad-based gait, Optic atrophy, CNS hypomyelination, Hearing impairment, Glo...	OMIM:312080
Ataxia With Vitamin E Deficiency	Tendon xanthomatosis, Cerebellar atrophy, Positive Romberg sign, Dysmetria, Impaired propriocepti...	OMIM:277460
Meckel Syndrome, Type 10	Dilated fourth ventricle, Cerebellar hypoplasia, Camptodactyly, Abnormal pinna morphology, Dandy-...	OMIM:614175
Spinocerebellar Ataxia Type 29	Dysdiadochokinesis, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Oculom...	ORPHA:208513
Pulmonary Edema Of Mountaineers, Susceptibility To	Pulmonary edema, Edema	OMIM:178400
Spinocerebellar Ataxia Type 40	Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Pontocerebellar ...	ORPHA:423275
Halperin-Birk Syndrome	Optic atrophy, Ventriculomegaly, Hearing impairment, Pseudobulbar paralysis, Inability to walk, C...	OMIM:618651
Developmental And Epileptic Encephalopathy 5	Cerebral cortical atrophy, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Hypsarrhyth...	OMIM:613477
Phenylketonuria	Lower limb spasticity, Tremor, Ataxia	ORPHA:716
Perrault Syndrome 1	Cerebellar atrophy, Gait ataxia, Sensorineural hearing impairment, Ataxia, Intention tremor, Spas...	OMIM:233400
Developmental And Epileptic Encephalopathy 44	Spasticity, Cerebellar atrophy, Cerebral atrophy, Delayed CNS myelination, Athetosis	OMIM:617132
Ataxia-Telangiectasia-Like Disorder 1	Distal amyotrophy, Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Lower limb spasticity, Ocu...	OMIM:604391
East Syndrome	Cerebellar atrophy, Lower limb muscle weakness, Difficulty walking, Inability to walk, Action tre...	ORPHA:199343
Leber Optic Atrophy And Dystonia	Optic atrophy, Leber optic atrophy	OMIM:500001
Mitochondrial Complex I Deficiency, Nuclear Type 7	Optic atrophy	OMIM:618229
Spinocerebellar Ataxia, Autosomal Recessive 7	Truncal titubation, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Dysm...	OMIM:609270
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Optic atrophy	ORPHA:352682
Familial Paroxysmal Ataxia	Diplopia, Cerebellar vermis atrophy, Hemiplegia, Vertigo, Tinnitus, Torticollis, Ataxia	ORPHA:97
Basel-Vanagaite-Smirin-Yosef Syndrome	Low-set ears, Spasticity, Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy...	ORPHA:464738
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Optic atrophy, Spasticity, Cerebellar atrophy, Inability to walk, Sensorineural hearing impairmen...	OMIM:614739
Proximal Myopathy With Extrapyramidal Signs	Progressive extrapyramidal movement disorder, Involuntary movements, Resting tremor, Progressive ...	ORPHA:401768
Branchiootic Syndrome 1	Branchial fistula	OMIM:602588
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Ventriculomegaly, Pigmentary retinopathy, Cerebellar atrophy, Decreased nerve cond...	OMIM:610651
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Bradykinesia, Chorea, Cogwheel rigidity, Myoclonus, Parkinsonism, Ataxia, Dystoni...	OMIM:619725
Ataxia-Oculomotor Apraxia 3	Distal amyotrophy, Cerebellar atrophy, Distal sensory impairment, Dysmetria, Peripheral axonal ne...	OMIM:615217
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Bradykinesia, Gait ataxia, Myoclonus, Tremor, Rigidity, Parkinsonism, ...	OMIM:618877
Craniotelencephalic Dysplasia	Optic atrophy, Septo-optic dysplasia	ORPHA:1528
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Bradykinesia, Myoclonus, Tremor, Distal sensory impairment, Rigid...	OMIM:606693
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Spasticity, Cerebellar atrophy, Lateral ventricle dilatation, CNS hypomyelination, EEG with gener...	OMIM:618367
Spinocerebellar Ataxia Type 19/22	Broad-based gait, Diplopia, Cerebellar atrophy, Difficulty walking, Limb ataxia, Cogwheel rigidit...	ORPHA:98772
Weiss-Kruszka Syndrome	Low-set ears, Ventriculomegaly, Cupped ear, Hearing impairment, Horizontal crus of helix, Dextrot...	OMIM:618619
Salt And Pepper Developmental Regression Syndrome	Optic atrophy	OMIM:609056
Weaver Syndrome	Spasticity, Ventriculomegaly, Joint contracture of the hand, Lateral ventricle dilatation, Macrot...	OMIM:277590
Glaucoma, Primary Closed-Angle	Increased cup-to-disc ratio	OMIM:618880
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Decreased motor nerve conduction velocity, Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Sen...	OMIM:616192
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Low-set ears, Dilated third ventricle, Lateral ventricle dilatation, Leukodystrophy, High hyperme...	OMIM:619575
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Spastic tetraplegia, Resting tremor, Bradykinesia, Obesity, Tremor, Dystonia,...	OMIM:300055
Hengel-Maroofian-Schols Syndrome	Spasticity, Cerebellar atrophy, Abnormal CNS myelination, Foot joint contracture, Cerebral atroph...	OMIM:619641
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Ventriculomegaly, Cerebellar atrophy, Hearing impairment, CNS hypomyelination, Inability to walk,...	OMIM:619580
Diencephalic Syndrome	Optic atrophy	ORPHA:1672
X-Linked Charcot-Marie-Tooth Disease Type 5	Paraparesis, Impaired pain sensation, Tremor, Ataxia	ORPHA:99014
Spastic Paraplegia 2, X-Linked	Optic atrophy	OMIM:312920
Cog7-Cdg	Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Abnormal heart morph...	ORPHA:79333
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Spinocerebellar Ataxia Type 21	Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressive cerebell...	ORPHA:98773
Pseudo-Torch Syndrome 2	Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Secundum atrial septal...	OMIM:617397
Gerstmann-Straussler Disease	Spasticity, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Parkinsonism, Apraxia, Weight ...	OMIM:137440
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Hearing impairmen...	OMIM:614946
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Low-set ears, Cerebellar vermis hypoplasia, Spasticity, Hypertrophic cardiomyopathy, Mitral atres...	OMIM:220111
Perry Syndrome	Parkinsonism, Weight loss, Tremor, Abnormality of extrapyramidal motor function	ORPHA:178509
Papillorenal Syndrome	Macular degeneration, Optic disc coloboma, Retinal coloboma, Chorioretinal atrophy, Macular hyper...	OMIM:120330
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Protruding ear, Gait disturbance, Cerebellar atrophy, Ataxia	ORPHA:85317
Leukoencephalopathy With Vanishing White Matter 5	Loss of ambulation, Dilated third ventricle, Lateral ventricle dilatation	OMIM:620315
Autosomal Recessive Malignant Osteopetrosis	Hearing impairment, Optic nerve compression, Abnormal pulmonary valve morphology, Otitis media, T...	ORPHA:667
White-Sutton Syndrome	Optic atrophy, Cerebral cortical atrophy, Abnormality of the outer ear, Cerebellar atrophy, Hypop...	ORPHA:468678
Spinocerebellar Ataxia With Epilepsy	Gait ataxia, Myoclonus, Dysmetria, Tremor, Dystonia, Dysdiadochokinesis, Progressive cerebellar a...	ORPHA:254881
Fragile X Tremor/Ataxia Syndrome	Poor fine motor coordination, Cerebellar atrophy, Resting tremor, Hearing impairment, Postural tr...	OMIM:300623
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Severe postnatal growth retardation, Branchial cyst	ORPHA:435938
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Low-set ears, Ventriculomegaly, Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Promine...	OMIM:618659
Alexander Disease Type I	Spasticity, Cerebellar atrophy, Abnormal pyramidal sign, Hydrocephalus, Ataxia, Palatal tremor	ORPHA:363717
Pick Disease Of Brain	Gliosis	OMIM:172700
Developmental And Epileptic Encephalopathy 61	Optic atrophy	OMIM:617933
Cerebellar Atrophy With Seizures And Variable Developmental Delay	Inability to walk, Cerebellar vermis atrophy, Chorea, Gait ataxia, Dysmetria, Ataxia	OMIM:618501
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Optic atrophy, Sensory axonal neuropathy, Decreased nerve conduction velocity, Abnormal periphera...	ORPHA:457205
Bilateral Polymicrogyria	Low-set ears, Ventriculomegaly, Cerebellar atrophy, Pseudobulbar paralysis, Spastic hemiparesis, ...	ORPHA:268940
Branchiogenic Deafness Syndrome	Short stature, Branchial fistula, Branchial cyst	ORPHA:50815
Juvenile Glaucoma	Abnormal optic nerve morphology, Retinal vein occlusion, Retinal arterial occlusion, Increased cu...	ORPHA:98977
Dihydropyrimidine Dehydrogenase Deficiency	Optic atrophy	OMIM:274270
Dworschak-Punetha Neurodevelopmental Syndrome	Cupped ear, Optic disc hypoplasia, Large earlobe, Agenesis of corpus callosum, Dysplastic corpus ...	OMIM:619955
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Cerebellar vermis hypoplasia, Ventriculomegaly, Unilateral wrist flexion contracture, Cerebellar ...	OMIM:616531
Atypical Juvenile Parkinsonism	Involuntary movements, Resting tremor, Bradykinesia, Gait ataxia, Myoclonus, Rigidity, Abnormal p...	ORPHA:391411
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Ventriculomegaly, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Agenesis...	OMIM:109120
Filippi Syndrome	Optic atrophy, Visual impairment, Cerebellar atrophy, Ventricular septal defect	OMIM:272440
Parkinson-Dementia Syndrome	Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity	OMIM:260540
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Low-set ears, Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Agenesis o...	OMIM:619244
Spinocerebellar Ataxia 29	Truncal titubation, Diffuse cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, C...	OMIM:117360
Glutathionuria	Action tremor, Dysdiadochokinesis, Tremor	OMIM:231950
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Bradykinesia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, ...	ORPHA:240085
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Optic atrophy	ORPHA:254343
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Spasticity, Inability to walk, Cerebellar vermis atrophy, Dysmetria, Cerebellar hypoplasia, Oculo...	OMIM:618087
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Low-set ears, Ankle flexion contracture, Cerebral cortical atrophy, Global brain atrophy, Cerebel...	OMIM:617802
Lymphatic Malformation 14	Lymphedema	OMIM:620602
Lymphatic Malformation 2	Lymphedema	OMIM:611944
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor	OMIM:614307
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Amblyopia, Macrotia	OMIM:619797
Hsd10 Disease	Spastic paraparesis, Myoclonus, Tremor, Rigidity, Ataxia, Choreoathetosis	ORPHA:391417
Gillespie Syndrome	Ventriculomegaly, Cerebellar atrophy, Postural tremor, Truncus arteriosus, Cerebellar hypoplasia,...	OMIM:206700
Mitochondrial Complex I Deficiency, Nuclear Type 14	Optic atrophy	OMIM:618236
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Limb ataxia, Progressive gait ataxia, Babinski sign, Truncal ataxia, Progress...	ORPHA:101112
Lissencephaly 6 With Microcephaly	Ventriculomegaly, Spasticity, Cerebellar atrophy, Limb hypertonia, Partial agenesis of the corpus...	OMIM:616212
Spastic Paraplegia 39, Autosomal Recessive	Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraplegia, Distal lower limb muscle w...	OMIM:612020
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the pons, Cerebellar dysplasia, Gai...	ORPHA:101070
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Low-set ears, Cerebral cortical atrophy, Cerebellar atrophy, Hearing impairment, High myopia, Cer...	OMIM:617763
Spinocerebellar Ataxia Type 10	EEG with generalized epileptiform discharges, Cerebellar atrophy, Gait imbalance, Gait ataxia, In...	ORPHA:98761
Spinocerebellar Ataxia 8	Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia	OMIM:608768
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Gliosis	OMIM:604218
Kaya-Barakat-Masson Syndrome	Spasticity, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Cerebral visual impairment...	OMIM:619125
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Low-set ears, Cerebellar vermis hypoplasia, Spasticity, Optic atrophy, Cerebellar atrophy, Cerebr...	OMIM:618590
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Tremor, Limb fasciculations, Somatic sensory dysfunction, Distal sensory impairment	ORPHA:90117
Gabriele-De Vries Syndrome	Low-set ears, Lateral ventricle dilatation, Tip-toe gait, Tremor, Patent foramen ovale, Simple ea...	OMIM:617557
Adducted Thumbs Syndrome	Myelin-dependent gliosis	OMIM:201550
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Limb-girdle muscular dystrophy, Elevated circulating hepatic transaminase concentration, Cerebell...	OMIM:615356
Parkinson Disease 21	Parkinsonism, Bradykinesia, Tremor, Rigidity	OMIM:616361
Neurocardiofaciodigital Syndrome	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Hearing impairment, Tetralogy of Fall...	OMIM:619869
Aniridia 2	Optic atrophy	OMIM:617141
Retinitis Pigmentosa 74	Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:616562
Spinocerebellar Ataxia Type 42	Upper limb postural tremor, Diplopia, Cerebellar atrophy, Resting tremor, Cerebellar vermis atrop...	ORPHA:458803
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Broad-based gait, Distal amyotrophy, Abnormal heart morphology, Decreased nerve conduction veloci...	ORPHA:477817
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Cerebellar atrophy, Elevated urine N-acetylaspartic acid level, Dysmetria, Ataxia	OMIM:618384
Mannosidosis, Alpha B, Lysosomal	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Decreased ci...	OMIM:248500
Mosaic Trisomy 1	Low-set ears, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Camptodactyly of finger...	ORPHA:1692
Migraine, Familial Hemiplegic, 2	Diplopia, Cerebellar atrophy, Episodic ataxia, Vertigo, Hemiplegia, Transient unilateral blurring...	OMIM:602481
Combined Oxidative Phosphorylation Deficiency 51	Optic atrophy	OMIM:619057
Jaberi-Elahi Syndrome	Low-set ears, Optic atrophy, Broad-based gait, Inability to walk, Cerebellar vermis atrophy, Gait...	OMIM:617988
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Gliosis	OMIM:221820
Spinocerebellar Ataxia 32	Azoospermia, Cerebellar atrophy, Ataxia	OMIM:613909
Spinocerebellar Ataxia 6	Cerebral cortical atrophy, Cerebellar atrophy, Frequent falls, Incoordination, Vertigo, Dysmetria...	OMIM:183086
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve...	ORPHA:364055
Developmental And Epileptic Encephalopathy 51	Cerebral cortical atrophy, Cerebellar atrophy, Skeletal muscle atrophy, Inability to walk, Babins...	OMIM:617339
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal heart morphology, Atrioventricular canal defect, Intrauterine growth retardation, Increa...	ORPHA:453499
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Spastic paraplegia, Failure to thrive, Tremor, Babinski sign	ORPHA:477673
Coenzyme Q10 Deficiency, Primary, 5	Cerebellar atrophy, Cerebral atrophy, Decreased level of coenzyme Q10 in skeletal muscle, Left ve...	OMIM:614654
Chromosome 6Q24-Q25 Deletion Syndrome	Low-set ears, Cupped ear, Lateral ventricle dilatation, Mitral valve prolapse, Dysplastic tricusp...	OMIM:612863
Brain Dopamine-Serotonin Vesicular Transport Disease	Oculogyric crisis, Spastic tetraparesis, Abnormality of coordination, Limb dystonia, Tremor, Park...	ORPHA:352649
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Optic atrophy	ORPHA:477814
Sarcosinemia	Optic atrophy	ORPHA:3129
Hypermanganesemia With Dystonia 2	Spasticity, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Inability to walk, Tremor, Ankle ...	OMIM:617013
Adenylosuccinase Deficiency	Low-set ears, Spasticity, Cerebellar atrophy, CNS hypomyelination, Skeletal muscle atrophy, Cereb...	OMIM:103050
Arima Syndrome	Cerebellar vermis hypoplasia, Optic atrophy, Undetectable electroretinogram, Chorioretinal colobo...	OMIM:243910
Spinocerebellar Ataxia Type 32	Azoospermia, Cerebellar atrophy, Progressive cerebellar ataxia	ORPHA:276183
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Titubation, Dysmetria, Ataxia	OMIM:619405
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Spasticity, Dilated third ventricle, Lateral ventricle dilatation, Sensorineural hearing impairme...	ORPHA:544488
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Low-set ears, Cerebellar atrophy, Ventricular septal defect, Spastic tetraparesis, Posteriorly ro...	OMIM:618506
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Skeletal muscle atrophy, Abnormality of peripheral nerve conduction, Steppage gait, Abnormal peri...	ORPHA:168563
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Akinesia, Tremor, R...	OMIM:300894
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebral cortical atrophy, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Hearing imp...	OMIM:620327
Congenital Disorder Of Glycosylation, Type Iil	Optic atrophy, Ventriculomegaly, Elevated gamma-glutamyltransferase level, Cerebellar atrophy, El...	OMIM:614576
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ...	OMIM:165550
Aicardi Syndrome	Cerebellar vermis hypoplasia, Optic atrophy, Dilated third ventricle, Chiari malformation, Latera...	OMIM:304050
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Pain insensitivity, Elevated gamma-glutamyltransferase level, Broad-based gait, Hepatic failure, ...	OMIM:256810
Spinocerebellar Ataxia 21	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Akinesia, Abnor...	OMIM:607454
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Tetralogy of Fallot, Intrauterine growth retardation, Situs inversus totalis, ...	ORPHA:1908
Bainbridge-Ropers Syndrome	Low-set ears, Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation, Inability to w...	OMIM:615485
Multiple System Atrophy	Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py...	ORPHA:102
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Visual impairment, Cerebellar atrophy, Abnormality of retinal pigmentation, Sensorineural hearing...	ORPHA:3085
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Parkinsonism, ...	ORPHA:99750
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Protruding ear, Unsteady gait, Cerebellar atrophy, Ataxia	OMIM:300861
Neuronal Intranuclear Inclusion Disease	Rigidity, Somatic sensory dysfunction, Tremor, Ataxia	OMIM:603472
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Optic atrophy, Motor axonal neuropathy, Sensory axonal neuropathy	OMIM:609541
Chromosome 1P36 Deletion Syndrome, Distal	Low-set ears, Lateral ventricle dilatation, Hearing impairment, Sensorineural hearing impairment,...	OMIM:607872
Spinocerebellar Ataxia 26	Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia	OMIM:609306
Renal Coloboma Syndrome	Optic nerve dysplasia, Optic disc coloboma, Retinal coloboma	ORPHA:1475
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Action tremor, Cone/cone-rod dystrophy, Optic disc pallor, Abnormal myelination, Generalized amin...	ORPHA:404454
Wildervanck Syndrome	Pseudopapilledema, Facial palsy	ORPHA:3456
Combined Oxidative Phosphorylation Deficiency 37	Optic atrophy, Spasticity, Elevated gamma-glutamyltransferase level, Cerebellar atrophy, Elevated...	OMIM:618329
Combined Oxidative Phosphorylation Deficiency 3	Optic atrophy, Ventriculomegaly, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, ...	OMIM:610505
Congenital Disorder Of Glycosylation, Type Iii	Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Atrophy/Degeneration affecting the brai...	OMIM:613612
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Chorea, Gait ataxia	OMIM:618917
Intellectual Developmental Disorder, Autosomal Recessive 68	Protruding ear, Cerebellar atrophy, Hydrocephalus	OMIM:618302
16Q24.3 Microdeletion Syndrome	Ventriculomegaly, Dilated cardiomyopathy, Hearing impairment, Ventricular septal defect, Protrudi...	ORPHA:261250
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Late-Onset Retinal Degeneration	Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Epiretinal me...	ORPHA:67042
Mitochondrial Complex I Deficiency, Nuclear Type 8	Optic disc pallor	OMIM:618230
Noonan Syndrome 14	Low-set ears, Lateral ventricle dilatation, Hypertrophic cardiomyopathy, Mitral valve prolapse, S...	OMIM:619745
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Bradykinesia, Postural tremor, Rigidity, Clumsiness, Parkinsonism, Dystonia	OMIM:619911
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Ataxia, Unsteady gait	ORPHA:2585
Saccharopinuria	Tremor, Gait ataxia, Distal sensory impairment, Spastic diplegia	ORPHA:3124
Retinitis Pigmentosa And Erythrocytic Microcytosis	Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess...	OMIM:616959
X-Linked Intellectual Disability, Wilson Type	Delayed myelination, Lateral ventricle dilatation	ORPHA:85290
Episodic Ataxia, Type 2	Abnormal vestibular function, Diplopia, Episodic ataxia, Cerebellar vermis atrophy, Vertigo, Pare...	OMIM:108500
Papilloma Of Choroid Plexus	Papilledema	OMIM:260500
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine	Cerebellar atrophy, Progressive cerebellar ataxia	OMIM:618412
Liang-Wang Syndrome	Macroglossia, Cerebellar atrophy, Cerebral atrophy, Ataxia	OMIM:618729
Cockayne Syndrome Type 1	Optic atrophy, Pigmentary retinopathy, Elevated circulating hepatic transaminase concentration, F...	ORPHA:90321
Spastic Tetraplegia And Axial Hypotonia, Progressive	Low-set ears, Cerebellar atrophy, Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal...	OMIM:618598
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Generalized dystonia, Multiple joint contractures, Tremor, Babinski sign, Torticol...	OMIM:128100
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1173
Sporadic Creutzfeldt-Jakob Disease	Astrocytosis, Gliosis	ORPHA:204
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Parkinsonism, Bradykinesia, Resting tremor, Rigidity	OMIM:614251
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity	Optic disc pallor, Cherry red spot of the macula	OMIM:615281
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Cerebellar atrophy, Skeletal muscle atrophy, Macrotia, Hyperkinetic movements, Neuronal loss in c...	OMIM:300243
Madras Motor Neuron Disease	Optic atrophy, Facial palsy	ORPHA:137867
Schindler Disease, Type I	Optic atrophy	OMIM:609241
Leukodystrophy, Hypomyelinating, 20	Cerebellar atrophy, Babinski sign, Hypertonia, Torticollis, Spastic tetraplegia	OMIM:619071
Leukoencephalopathy With Calcifications And Cysts	Spasticity, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia	ORPHA:542310
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Generalized amyotrophy, Spasticity, Ventriculomegaly, Cerebellar atrophy, Hearing impairment, Ske...	OMIM:301072
Takenouchi-Kosaki Syndrome	Low-set ears, Optic atrophy, Ventriculomegaly, Cerebral cortical atrophy, Cerebellar atrophy, Sen...	OMIM:616737
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Optic atrophy, Cerebellar atrophy, Hypoplasia of the pons, Leukodystrophy, CNS hypomyelination, D...	OMIM:619708
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Optic atrophy, Spasticity, Cerebral cortical atrophy, Cerebellar atrophy, Skeletal muscle atrophy...	ORPHA:496641
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia	OMIM:614229
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Ventriculomegaly, Contractures of the large joints, Low-set, posteriorly rotated e...	ORPHA:521426
Lissencephaly Syndrome, Norman-Roberts Type	Low-set ears, Cerebellar atrophy, Patent foramen ovale, Agenesis of corpus callosum, Atrial septa...	ORPHA:89844
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Bradyki...	OMIM:612953
Chromosome 16Q12 Duplication Syndrome	Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial mottling, T...	OMIM:619649
Spinocerebellar Ataxia 47	Low-set ears, Spasticity, Diplopia, Cerebellar vermis atrophy, Chorea, Dysmetria, Ataxia	OMIM:617931
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Gait ataxia, Myoclonus, Tremor, Impaired tactile sensation, Hypertonia, Ataxia	OMIM:619092
Neurodegeneration With Brain Iron Accumulation 2B	Optic atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Chorea, Gait ...	OMIM:610217
Leukodystrophy, Hypomyelinating, 19, Transient Infantile	Optic atrophy	OMIM:618688
Neuronal Intranuclear Inclusion Disease	Optic atrophy	ORPHA:2289
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Low-set ears, Ventriculomegaly, Congenital contracture, Cerebral atrophy, Agenesis of corpus call...	OMIM:620156
Optic Pathway Glioma	Optic atrophy, Papilledema, Neurofibroma	ORPHA:2086
White Sponge Nevus 2	Edema	OMIM:615785
Sneddon Syndrome	Chorea, Tremor, Hemiparesis	ORPHA:820
Basal Ganglia Disease, Biotin-Thiamine Responsive	Truncal titubation, Tetraparesis, Chorea, Gait ataxia, Action tremor, Cogwheel rigidity, Rigidity...	OMIM:607483
Spinocerebellar Ataxia Type 7	Macular degeneration, Cerebellar atrophy, Somatic sensory dysfunction, Cerebral atrophy, Blindnes...	ORPHA:94147
Cockayne Syndrome	Spasticity, Difficulty walking, Action tremor, Peripheral axonal neuropathy, Hypermetropia, Demye...	ORPHA:191
Arthrogryposis, Distal, Type 2A	Joint contracture of the hand, Abnormal auditory evoked potentials, Cerebellar atrophy, Hearing i...	OMIM:193700
Huppke-Brendel Syndrome	Cerebellar atrophy, Hearing impairment, CNS hypomyelination, Cerebral atrophy, Inability to walk	OMIM:614482
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:268315
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Mild postnatal growth retardation, Pleural...	OMIM:265300
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor	OMIM:619170
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, Myoclonus, Tremor, Ataxia	OMIM:607876
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Diffuse cerebellar atrophy, Limb ataxia, Motor axonal neuropathy, Progressive gait ataxia, Abnorm...	ORPHA:247815
Spastic Paraplegia 9B, Autosomal Recessive	Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Tetraplegia, Impai...	OMIM:616586
Riboflavin Transporter Deficiency	Abnormality of macular pigmentation, Abnormal cranial nerve morphology, Abnormal autonomic nervou...	ORPHA:97229
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Ventriculomegaly, Cerebellar vermis atrophy, Distal lower limb amyotrophy, Gait ataxia, Tremor, M...	OMIM:300354
Isolated Complex I Deficiency	Leukodystrophy, Hypertrophic cardiomyopathy, Blindness, Sensorineural hearing impairment, Decreas...	ORPHA:2609
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Low-set ears, Ventriculomegaly, CNS hypomyelination, Cerebral atrophy, Cerebellar vermis atrophy,...	OMIM:615760
Atypical Rett Syndrome	Spasticity, Involuntary movements, Pill-rolling tremor, Impaired pain sensation, Limb myoclonus, ...	ORPHA:3095
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Facial palsy	OMIM:615085
Amish Nemaline Myopathy	Tremor, Shoulder flexion contracture, Hip contracture	ORPHA:98902
Juvenile Paget Disease	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2801
Zika Virus Disease	Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic...	ORPHA:448237
Pyruvate Dehydrogenase Deficiency	Spasticity, Cerebral palsy, Tremor, Multiple lipomas, Abnormal pyramidal sign, Ataxia, Dystonia, ...	ORPHA:765
Galloway-Mowat Syndrome 2, X-Linked	Cerebral atrophy, Spasticity, Cerebellar atrophy, Dysmetria	OMIM:301006
Coenzyme Q10 Deficiency, Primary, 2	Optic atrophy	OMIM:614651
Osteopetrosis, Autosomal Recessive 7	Optic atrophy, Lateral ventricle dilatation, Optic nerve compression, Progressive visual loss, Hy...	OMIM:612301
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Cerebral cortical atrophy, Lateral ventricle dilatation, Apraxia, Parkinsonism, Neuronal loss in ...	OMIM:607485
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Cerebellar atrophy, Abnormal cerebellum morphology, Gait ataxia, Dysmetria, T...	OMIM:618056
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Neurodegeneration, Congenital diaphragmatic hernia, Sensorineural hearing imp...	OMIM:615919
D-Bifunctional Protein Deficiency	Low-set ears, Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Cerebell...	OMIM:261515
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor	ORPHA:3173
Spinocerebellar Ataxia 4	Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Babinski sign, Progressive cerebel...	OMIM:600223
Developmental And Epileptic Encephalopathy 46	Limb hypertonia, Failure to thrive, Tremor	OMIM:617162
Spinocerebellar Ataxia, Autosomal Recessive 28	Optic atrophy	OMIM:618800
Branchiootic Syndrome	Branchial fistula	ORPHA:52429
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Low-set ears, Restrictive cardiomyopathy, Cerebellar atrophy, Cerebral atrophy, Ankle clonus, Cer...	OMIM:615398
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Dystonia, Choreoathetosis	OMIM:233910
Kanzaki Disease	Aminoaciduria, Cerebral atrophy, Vertigo, Distal sensory impairment, Axonal degeneration, Sensori...	OMIM:609242
Holoprosencephaly	Spinal dysraphism, Tetralogy of Fallot, Branchial anomaly, Encephalocele, Abnormal pulmonary valv...	ORPHA:2162
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyelid myoclonus	OMIM:618060
Familial Infantile Bilateral Striatal Necrosis	Optic atrophy, Astrocytosis, Basal ganglia gliosis	ORPHA:225154
Alpha-Mannosidosis, Infantile Form	Spastic paraplegia, Macroglossia, Cerebral cortical atrophy, Chiari malformation, Cerebellar atro...	ORPHA:309282
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:598500
Chromosome 19P13.13 Deletion Syndrome	Optic atrophy, Optic nerve hypoplasia	OMIM:613638
Microcephaly, Amish Type	Hypoplasia of the fovea, Optic atrophy	OMIM:607196
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Retinal dystrophy	ORPHA:49827
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set ears, Optic atrophy, Spasticity, Progressive ventriculomegaly, Chiari malformation, Later...	ORPHA:500150
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy	OMIM:249270
Spinocerebellar Ataxia Type 8	Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebellar ...	ORPHA:98760
Mevalonic Aciduria	Low-set ears, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Increa...	OMIM:610377
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Optic atrophy	ORPHA:1154
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Vocal cord paresis, Impaired pain sensation, Fasciculations, Impaired temperature sensation, Trem...	OMIM:619574
Tremor, Nystagmus, And Duodenal Ulcer	Kinetic tremor, Tremor	OMIM:190310
Cystathioninuria	Tremor	ORPHA:212
Leukodystrophy, Hypomyelinating, 22	Optic disc pallor	OMIM:619328
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Optic disc pallor, Facial palsy	OMIM:611490
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Low-set ears, Involuntary movements, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Prom...	OMIM:617804
Ddost-Cdg	Lipodystrophy, Failure to thrive, Oromotor apraxia, Tremor	ORPHA:300536
Leber Congenital Amaurosis 15	Color vision defect, Pigmentary retinopathy, Photophobia, Constriction of peripheral visual field...	OMIM:613843
Bor Syndrome	Branchial cyst	ORPHA:107
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Prominent antihelix, Lateral ventricle dilatation, Underdeveloped antitragus, Hypsarrhythmia, Cho...	ORPHA:293725
Inherited Creutzfeldt-Jakob Disease	Progressive extrapyramidal muscular rigidity, Chorea, Gait ataxia, Spastic hemiparesis, Tremor, M...	ORPHA:282166
Woods Syndrome	Optic atrophy	OMIM:615236
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Involuntary movements, Macular degeneration, Cerebellar atrophy, Myoclonus, Dysmetria, Abnormal p...	OMIM:619780
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	CNS hypomyelination, Hearing impairment, Cerebellar atrophy, Cerebral atrophy, Hippocampal atroph...	OMIM:618922
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Cerebral atrophy, Delayed CNS myelination, Cerebellar atrophy, Leukodystrophy	OMIM:620269
Angioedema, Hereditary, 1	Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration	OMIM:106100
Ciliary Dyskinesia, Primary, 53	Cerebellar vermis hypoplasia, Dilated fourth ventricle, Situs inversus totalis, Patent foramen ov...	OMIM:620642
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Arts Syndrome	Optic atrophy	OMIM:301835
Congenital Muscular Dystrophy, Fukuyama Type	Optic atrophy, Retinal dysplasia	ORPHA:272
Mitochondrial Complex I Deficiency, Nuclear Type 18	Optic disc pallor	OMIM:618240
Non-Specific Early-Onset Epileptic Encephalopathy	Involuntary movements, Spasticity, Failure to thrive, Abnormality of coordination, Myoclonus, Tre...	ORPHA:442835
Microphthalmia/Coloboma 12	Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula...	OMIM:120200
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Abnormal helix morphology, Joint contracture of the hand, Pigmentary retinopathy, ...	OMIM:214110
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Pigmentary retinopathy, Elevated circulating hepatic transaminase concentration, Cerebellar atrop...	OMIM:268020
X-Linked Intellectual Disability, Najm Type	Optic atrophy, Chorioretinal coloboma, Optic nerve hypoplasia	ORPHA:163937
Coloboma, Ocular, Autosomal Recessive	Optic disc coloboma, Retinal coloboma	OMIM:216820
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Low-set ears, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Cerebellar hyp...	OMIM:618443
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Low-set ears, Cerebellar atrophy, Patent foramen ovale, Ventricular septal defect, Cerebellar hyp...	ORPHA:329224
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:300578
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Gliosis	OMIM:608033
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Ventriculomegaly, Global brain atrophy, Cerebellar atrophy, Secundum atrial septal defect, Inabil...	OMIM:620066
Spastic Paraplegia Type 2	Optic atrophy	ORPHA:99015
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Obesity, Tremor, Parkinsonism, Lower limb spasticity	ORPHA:3077
Branchiootorenal Syndrome 1	Branchial fistula, Branchial cyst	OMIM:113650
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Spasticity, Hypoplasia of the pons, Agenesis of corpus callosum, Abnormal pyramidal sign, Bilater...	ORPHA:468631
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Low-set ears, Spasticity, Cerebellar atrophy, CNS hypomyelination, Cerebral atrophy	OMIM:619286
Khan-Khan-Katsanis Syndrome	Cerebellar vermis hypoplasia, Ventriculomegaly, Pigmentary retinopathy, Patent foramen ovale, Sen...	OMIM:618460
Lissencephaly, X-Linked, 2	Gliosis	OMIM:300215
Prader-Willi Syndrome Due To Translocation	Cerebral cortical atrophy, Lateral ventricle dilatation, Abnormal heart morphology, Patent forame...	ORPHA:177907
Alg1-Cdg	Cerebellar atrophy, Cardiomyopathy, Decreased liver function, Abnormal heart morphology, Cerebral...	ORPHA:79327
Familial Infantile Myoclonic Epilepsy	Blepharospasm, Cerebellar atrophy, Limb myoclonus, Interictal EEG abnormality, Clumsiness, Gait d...	ORPHA:352582
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Low-set ears, Ventriculomegaly, Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation...	OMIM:619479
Craniorachischisis	Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly	ORPHA:63260
Short Stature-Micrognathia Syndrome	Cerebellar atrophy, Gait ataxia, Ventricular septal defect, Ataxia, Myopia, Skeletal muscle hyper...	OMIM:617164
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:216866
Biotinidase Deficiency	Diffuse cerebellar atrophy, Optic atrophy, Visual loss, Sensorineural hearing impairment, Diffuse...	OMIM:253260
Sneddon Syndrome	Atrophic scars, Tremor, Hemiplegia, Impaired distal tactile sensation	OMIM:182410
Stt3B-Cdg	Optic atrophy, Cerebellar atrophy	ORPHA:370924
Trichothiodystrophy	Diffuse cerebellar atrophy, Spasticity, Ventricular septal defect, Abnormal pyramidal sign, Bilat...	ORPHA:33364
Achromatopsia 2	Retinal thinning, Dull foveal reflex, Peripapillary atrophy, Hypoplasia of the fovea, Absent fove...	OMIM:216900
Congenital Disorder Of Glycosylation, Type Ix	Optic atrophy, Cerebellar atrophy	OMIM:615597
Helsmoortel-Van Der Aa Syndrome	Low-set ears, Ventriculomegaly, Cupped ear, Lateral ventricle dilatation, Visual impairment, Abno...	OMIM:615873
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Cerebellar atrophy, Interictal EEG abnormality, Positive Romberg sign, Myoclonus, Dysmetria, Inte...	OMIM:301310
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Abnormality of extrapyramidal motor function...	OMIM:613280
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Optic atrophy, Spasticity, Cerebellar atrophy, Cataplexy, Sensorineural hearing impairment, Ataxia	OMIM:604121
Intellectual Developmental Disorder, X-Linked 12	Gliosis	OMIM:300957
Autosomal Dominant Optic Atrophy And Cataract	Optic atrophy, Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal mu...	ORPHA:67036
Distal 22Q11.2 Microdeletion Syndrome	Branchial fistula, Intrauterine growth retardation, Ventricular septal defect, Truncus arteriosus...	ORPHA:261330
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Absent brainstem auditory responses, Gliosis	ORPHA:3240
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor	OMIM:613730
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Limb muscle weakness...	OMIM:610131
Aromatic L-Amino Acid Decarboxylase Deficiency	Oculogyric crisis, Failure to thrive, Tremor, Babinski sign, Limb hypertonia, Joint contracture, ...	ORPHA:35708
Galloway-Mowat Syndrome 1	Low-set ears, Optic atrophy, Ventriculomegaly, Spasticity, Cerebellar atrophy, Joint contracture ...	OMIM:251300
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Fasciculations	OMIM:313200
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Gliosis	ORPHA:457240
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Ventricular septal defect, Atrial sep...	OMIM:263520
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Low-set ears, Optic atrophy, Ventriculomegaly, Optic nerve hypoplasia, Muscular dystrophy, Atresi...	OMIM:236670
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Low-set ears, Cerebellar vermis hypoplasia, Spasticity, Ventriculomegaly, Cerebellar atrophy, Hea...	OMIM:300966
Triple A Syndrome	Optic atrophy, Motor axonal neuropathy	ORPHA:869
Congenital Disorder Of Glycosylation, Type Iim	Lateral ventricle dilatation, Cerebral atrophy, Cerebellar hypoplasia, Delayed CNS myelination, H...	OMIM:300896
Spontaneous Periodic Hypothermia	Tremor, Ataxia	ORPHA:29822
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Tremor, Shoulder flexion contracture, Hip contracture	OMIM:605355
3-Methylglutaconic Aciduria Type 7	Spasticity, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Cerebral...	ORPHA:445038
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Low-set ears, Ventriculomegaly, EEG with burst suppression, Mitral stenosis, Agenesis of corpus c...	OMIM:617260
Retinitis Pigmentosa	Optic atrophy, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Retinal...	ORPHA:791
Cadds	Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Se...	ORPHA:369942
Scholte Syndrome	Abnormal pyramidal sign, Cerebellar atrophy	OMIM:300977
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Neurodegeneration And Seizures Due To Copper Transport Defect	Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Cardiomegaly, Limb hypertonia, Cerebral v...	OMIM:620306
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Low-set ears, Cerebellar vermis hypoplasia, Inability to walk, Colpocephaly, Ataxia, Optic disc p...	OMIM:620083
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Cerebellar atrophy, Dysdiadochokinesis, Sensorineural hearing impairment, Peripheral hypomyelinat...	OMIM:612780
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi...	OMIM:607060
Cimdag Syndrome	Cerebellar vermis hypoplasia, Spasticity, Cerebral atrophy, Chorea, Pontocerebellar atrophy, Sens...	OMIM:619273
Oligomeganephronia	Hypertension, Branchial cyst	ORPHA:2260
Idiopathic Intracranial Hypertension	Papilledema	ORPHA:238624
Congenital Disorder Of Glycosylation, Type Iie	Low-set ears, Cerebellar atrophy, Skeletal muscle atrophy, Cerebral atrophy, Decreased liver func...	OMIM:608779
Linear Skin Defects With Multiple Congenital Anomalies 3	Dilated cardiomyopathy, Lateral ventricle dilatation, Histiocytoid cardiomyopathy, Agenesis of co...	OMIM:300952
Galloway-Mowat Syndrome 9	Low-set ears, Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Choreoathetosis, M...	OMIM:619603
Linear Skin Defects With Multiple Congenital Anomalies 1	Pigmentary retinopathy, Hearing impairment, High myopia, Congenital diaphragmatic hernia, Histioc...	OMIM:309801
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d...	ORPHA:352665
Congenital Disorder Of Glycosylation, Type Il	Low-set ears, Global brain atrophy, Cerebellar atrophy, Cerebral atrophy, Delayed CNS myelination...	OMIM:608776
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebral cortical atrophy, Cerebellar atrophy, Neck muscle hypertrophy, Difficulty walking, Head ...	ORPHA:420492
Isolated Posterior Meningocele	Limitation of neck motion, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocel...	ORPHA:268810
Spinocerebellar Ataxia 27A	Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Abno...	OMIM:193003
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Painless fractu...	OMIM:201300
Trisomy 10P	Low-set ears, Poor motor coordination, Abnormal auditory evoked potentials, Decreased muscle mass...	ORPHA:171929
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Infantile Refsum Disease	Optic atrophy, Facial palsy, Rod-cone dystrophy	ORPHA:772
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss, Periodic paralysis, Tremor	OMIM:613239
Alg3-Cdg	Cardiomyopathy, Neural tube defect	ORPHA:79321
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2518
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Low-set ears, Cerebellar vermis hypoplasia, Shoulder flexion contracture, Lateral ventricle dilat...	OMIM:210710
Chédiak-Higashi Syndrome	Spastic paraplegia, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, ...	ORPHA:167
Short Stature, Microcephaly, And Endocrine Dysfunction	Broad-based gait, Ventriculomegaly, Sensory axonal neuropathy, Dilated cardiomyopathy, Cerebellar...	OMIM:616541
Biliary, Renal, Neurologic, And Skeletal Syndrome	Low-set ears, Elevated gamma-glutamyltransferase level, Spasticity, Unbalanced atrioventricular c...	OMIM:619534
Bohring-Opitz Syndrome	Low-set ears, Abnormal optic nerve morphology, Delayed peripheral myelination, Ventricular septal...	OMIM:605039
Friedreich Ataxia 2	Impaired vibratory sensation, Abnormal medulla oblongata morphology, Decreased pyruvate carboxyla...	OMIM:601992
Fuchs Heterochromic Iridocyclitis	Chorioretinal scar, Epiretinal membrane, Retinal perforation, Vitreous floaters, Papilledema, Opt...	ORPHA:263479
Hyperostosis Cranialis Interna	Optic atrophy, Facial palsy	OMIM:144755
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Spasticity, Hypertonia, Tremor, Rigidity	OMIM:176500
Bilateral Perisylvian Polymicrogyria	Cerebellar vermis hypoplasia, Spasticity, Oromotor apraxia, EEG with frontal focal spikes, Hearin...	ORPHA:98889
Wolfram Syndrome 2	Optic atrophy, Optic neuropathy	OMIM:604928
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Optic atrophy, Ventriculomegaly, Total anomalous pulmonary venous return, Cerebellar atrophy, Hea...	ORPHA:487796
Abcd Syndrome	Abnormal auditory evoked potentials, Hearing impairment, Hypopigmentation of the fundus, Aganglio...	OMIM:600501
Developmental And Epileptic Encephalopathy 4	Spastic paraplegia, Spastic tetraplegia, Choreoathetosis, Tremor	OMIM:612164
Ataxia-Oculomotor Apraxia 4	Impaired vibratory sensation, Cerebellar atrophy, Oculomotor apraxia, Abnormal pyramidal sign, Te...	OMIM:616267
Cancer-Associated Retinopathy	Diffuse cerebellar atrophy, Optic atrophy, Dyschromatopsia, Foveal hyporeflective spaces on macul...	ORPHA:71505
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Progressive extrapyramidal muscular rigidity, Bradykinesia, Axial dystonia, Tremor...	ORPHA:240071
Spongiform Encephalopathy With Neuropsychiatric Features	Gliosis	OMIM:606688
Distal 22Q11.2 Microduplication Syndrome	Webbed neck, Branchial fistula, Ventricular septal defect, Low posterior hairline, Tricuspid valv...	ORPHA:261337
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Spasticity, Broad-based gait, Lateral ventricle dilatation, Recurrent otit...	ORPHA:261537
Immunodeficiency 114, Folate-Responsive	Delayed CNS myelination, Cerebellar atrophy, Cerebral atrophy	OMIM:620603
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Spasticity, Broad-based gait, Lateral ventricle dilatation, Recurrent otit...	ORPHA:261552
3-Methylglutaconic Aciduria, Type Viib	Spasticity, Cerebellar atrophy, Cerebral atrophy, Myoclonus, Tremor, Hyperkinetic movements, Opis...	OMIM:616271
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Low-set ears, Cerebellar atrophy, High myopia, Ventricular septal defect, Dysplastic corpus callo...	OMIM:619103
Perry Syndrome	Bradykinesia, Tremor, Rigidity, Parkinsonism, Weight loss, Dystonia	OMIM:168605
Norrie Disease	Retinal fold, Optic atrophy, Retinal dysplasia, Retinal detachment	OMIM:310600
Aceruloplasminemia	Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Tremor, Rigidity, Craniof...	ORPHA:48818
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Low-set ears, Cerebellar vermis hypoplasia, Ventriculomegaly, Hearing impairment, Cardiomyopathy,...	ORPHA:480880
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Broad-based gait, Cerebellar atrophy, Cerebral atrophy, Generalized limb muscle atrophy, Ankle cl...	OMIM:618891
Myopathy, Mitochondrial, And Ataxia	Limb ataxia, Dysmetria, Distal sensory impairment, Tremor, Multiple lipomas, Ataxia, Truncal atax...	OMIM:617675
Galloway-Mowat Syndrome 6	Cerebellar vermis atrophy, Cerebellar atrophy	OMIM:618347
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Increased variability in muscle fiber diameter, Ventriculomegaly, Muscular dystrophy, Congenital ...	OMIM:613150
Developmental And Epileptic Encephalopathy 89	Low-set ears, Spasticity, Cerebellar atrophy, Cerebral atrophy, Tetraparesis, EEG with burst supp...	OMIM:619124
Amyloidosis, Hereditary Systemic 1	Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Positive Romberg sign, Tremor, Hemipare...	OMIM:105210
Combined Oxidative Phosphorylation Deficiency 7	Optic atrophy, Facial paralysis, Facial diplegia	OMIM:613559
Knobloch Syndrome 1	Ventriculomegaly, Cerebellar atrophy, Vitreoretinopathy, Cerebral atrophy, Attenuation of retinal...	OMIM:267750
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Spinal dysraphism, Mitral stenosis, Atrial septal ...	OMIM:617660
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Branchial anomaly	ORPHA:466950
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Low-set ears, Spasticity, Cerebellar atrophy, Cupped ear, Cerebral atrophy, Large fleshy ears, Co...	OMIM:614080
Shukla-Vernon Syndrome	Broad-based gait, Cerebellar atrophy	OMIM:301029
Cntnap2-Related Developmental And Epileptic Encephalopathy	EEG with generalized epileptiform discharges, Cerebral palsy, Cerebellar vermis atrophy, EEG with...	ORPHA:163681
Combined Oxidative Phosphorylation Deficiency 25	Low-set ears, Ventriculomegaly, Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Sen...	OMIM:616430
Fetal Cytomegalovirus Syndrome	Retinal hemorrhage, Optic atrophy, Chorioretinitis	ORPHA:294
Mucopolysaccharidosis, Type Iiid	Low-set ears, Cerebellar atrophy, Hearing impairment, Asymmetric septal hypertrophy, Difficulty w...	OMIM:252940
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Intrahepatic cholestasis, Cerebellar atrophy, Elevated circulating aspartate aminotransferase con...	OMIM:619685
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Galloway-Mowat Syndrome 10	Delayed CNS myelination, Myoclonus, Cerebral atrophy, Cerebellar atrophy	OMIM:619609
Leukodystrophy, Progressive, Early Childhood-Onset	Optic disc pallor	OMIM:617762
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Congenital contracture, Cerebellar atrophy, Cerebral atrophy, Elbow flexion contracture, Hip cont...	OMIM:616266
Cerebral Visual Impairment	Optic atrophy, Retinopathy of prematurity, Optic disc pallor, Increased cup-to-disc ratio, Optic ...	ORPHA:447788
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Low-set ears, Broad-based gait, Cupped ear, Cerebellar vermis atrophy, Limb ataxia, Overfolded he...	OMIM:617101
Spondyloenchondrodysplasia	Ventriculomegaly, Spasticity, Hepatitis, Chorea, Abnormal lateral ventricle morphology	ORPHA:1855
Orofaciodigital Syndrome Type 14	Dilated third ventricle, Retinal coloboma, Low-set, posteriorly rotated ears, Dilated fourth vent...	ORPHA:434179
Meckel Syndrome, Type 1	Low-set ears, Ventriculomegaly, Chiari malformation, Camptodactyly of finger, Dilated fourth vent...	OMIM:249000
Fragile X-Associated Tremor/Ataxia Syndrome	Diffuse cerebellar atrophy, Cerebral cortical atrophy, Gait ataxia, Intention tremor, Dysmetria, ...	ORPHA:93256
Niemann-Pick Disease Type C	Hearing impairment, Leukodystrophy, Speech apraxia, Frontal cortical atrophy, Abnormal pyramidal ...	ORPHA:646
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Flexion contracture of toe, Ventriculomegaly, Proximal muscle weakness in lower limbs, Cerebellar...	ORPHA:280633
Holoprosencephaly 14	Low-set ears, Ventriculomegaly, Cerebellar atrophy, Macrotia, Ventricular septal defect, Double o...	OMIM:619895
Lymphatic Malformation 6	Facial edema, Periorbital edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Pleural eff...	OMIM:616843
Scalp-Ear-Nipple Syndrome	Low-set ears, Cupped ear, Lateral ventricle dilatation, Underdeveloped tragus, Underdeveloped ant...	OMIM:181270
Holoprosencephaly 13, X-Linked	Low-set ears, Hypoplastic left heart, Optic nerve hypoplasia, Hearing impairment, Patent foramen ...	OMIM:301043
Galloway-Mowat Syndrome 3	Low-set ears, Ventriculomegaly, Spasticity, Cerebellar atrophy, Cerebral atrophy, Camptodactyly, ...	OMIM:617729
Parkinson Disease, Late-Onset	Resting tremor, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia	OMIM:168600
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Exencephaly	ORPHA:2211
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Cerebellar atrophy, Dysmetria, Sensorineural hearing impairment, Skeletal muscle fibrosis, Achill...	OMIM:616263
Osteopetrosis, Autosomal Recessive 9	Papilledema	OMIM:620366
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Low-set ears, Global brain atrophy, Cerebellar atrophy, Hearing impairment, EEG with generalized ...	ORPHA:369837
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Spastic paraplegia, Spasticity, Tremor, Dysmetria, Babinski sign, Ataxia	OMIM:618527
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation, Opisthotonus, Hypertonia, Spastic tetraparesis, Flexion contracture	OMIM:614098
Familial Acute Necrotizing Encephalopathy	Gliosis	ORPHA:88619
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:2715
Mend Syndrome	Low-set ears, Aortic valve stenosis, Abnormal auditory evoked potentials, Abnormal heart morpholo...	ORPHA:401973
47,Xyy Syndrome	Low-set ears, Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Azoospermia, Hydrocephal...	ORPHA:8
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Low-set ears, Patent foramen ovale, Ventricular septal defect, Agenesis of corpus callosum, Colpo...	OMIM:620113
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Bradykinesia, Myoclonus, Tremor, Rigidi...	ORPHA:199351
Intellectual Developmental Disorder, Autosomal Dominant 62	Cerebellar vermis atrophy	OMIM:618793
Early Infantile Epileptic Encephalopathy	Spasticity, Cerebellar atrophy, Episodic ataxia, EEG with burst suppression, Uni- and bilateral m...	ORPHA:1934
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Spasticity, Facial paralysis, Cerebellar atrophy, Hypopigmentation of the fundus, Tetraparesis, R...	OMIM:175780
O'Sullivan-Mcleod Syndrome	Tremor, Fasciculations	ORPHA:99965
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Opisthotonus, Hypertonia, Tremor	OMIM:250800
Kleefstra Syndrome Due To A Point Mutation	Gliosis	ORPHA:261652
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced visual acuity, Delayed CNS myelination, Cerebellar atrophy	OMIM:618541
Acute Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Cerebral palsy, Sensorineural hearing impairment, Hypertonia...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Cerebral palsy, Sensorineural hearing impairment, Hypertonia...	ORPHA:529808
8Q24.3 Microdeletion Syndrome	Infancy onset short-trunk short stature, Branchial cyst, Abnormal heart morphology, Atrioventricu...	ORPHA:508488
Oxoglutaric Aciduria	Skeletal muscle atrophy, Abnormality of Krebs cycle metabolism, Hydrocephalus, Hypertonia, Ataxia	ORPHA:31
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Enlarged cerebellum, Patent foramen ovale, Colpocephaly, Oculomotor apraxia, Clonus, Delayed myel...	ORPHA:477993
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Pigmentary retinopathy, Optic atrophy	OMIM:617282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Spasticity, Ventriculomegaly, Muscular dystrophy, Retinal dysplasia, Agenesis of cerebellar vermi...	OMIM:615287
Autosomal Dominant Spastic Paraplegia Type 9A	Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Abnormal pyramidal sign, ...	ORPHA:447753
Parkinson Disease 20, Early-Onset	Involuntary movements, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia, Eyelid apraxia	OMIM:615530
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Cerebellar vermis atrophy, Head tremor, Gait imbalance, Postural tre...	ORPHA:64753
6Q Terminal Deletion Syndrome	Low-set, posteriorly rotated ears, Gait ataxia, Dysmetria, Cerebellar hypoplasia, Colpocephaly, H...	ORPHA:75857
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Natal tooth, Branchial cyst, Intrauterine growth retardation, Patent foramen ovale, Atrial septal...	OMIM:620186
Multiple Sulfatase Deficiency	Optic atrophy, Abnormality of peripheral nerve conduction, Abnormality of retinal pigmentation	ORPHA:585
Pelizaeus-Merzbacher Disease, Connatal Form	Gliosis	ORPHA:280210
Dysosteosclerosis	Optic atrophy, Abnormal cranial nerve morphology	ORPHA:1782
Treacher-Collins Syndrome	Branchial fistula, Encephalocele	ORPHA:861
Peroxisome Biogenesis Disorder 4B	Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Retinal dystrophy	OMIM:614863
Multiple Acyl-Coa Dehydrogenase Deficiency	Gliosis	ORPHA:26791
Hypotonia, Ataxia, And Delayed Development Syndrome	Pain insensitivity, Cerebellar vermis hypoplasia, Broad-based gait, Low-set ears, Cerebellar atro...	OMIM:617330
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculogyric crisis, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent falls, Chor...	OMIM:612716
Congenital Primary Aphakia	Retinal dysplasia, Retinal detachment, Optic disc coloboma	ORPHA:83461
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Cerebellar atrophy, Hearing impairment	OMIM:301108
Anterior Segment Dysgenesis 8	Optic nerve dysplasia	OMIM:617319
Osteopetrosis, Autosomal Recessive 2	Optic atrophy, Facial paralysis, Cranial nerve compression	OMIM:259710
Hereditary Sensory And Autonomic Neuropathy Type 5	Pain insensitivity, Impaired temperature sensation, Decreased number of small peripheral myelinat...	ORPHA:64752
Smith-Lemli-Opitz Syndrome	Low-set ears, Global brain atrophy, Cerebellar atrophy, Hearing impairment, Recurrent otitis medi...	OMIM:270400
Progressive Supranuclear Palsy	Gliosis	ORPHA:683
Multiple Acyl-Coa Dehydrogenase Deficiency	Gliosis	OMIM:231680
Hereditary Late-Onset Parkinson Disease	Orthostatic hypotension due to autonomic dysfunction, Gliosis	ORPHA:411602
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Ataxia	ORPHA:713
Fliedner-Zweier Syndrome	Bicuspid aortic valve, Cerebellar atrophy, Hypertonia, Ventricular septal defect	OMIM:620511
Stankiewicz-Isidor Syndrome	Abnormal optic disc morphology	OMIM:617516
Microcephalic osteodysplastic primordial dwarfism, type III	Optic atrophy, Cerebellar atrophy, Chorioretinal coloboma, Hip contracture, Knee flexion contract...	OMIM:210730
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Gliosis	OMIM:618321
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Low-set ears, Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Gait ataxia, Commu...	OMIM:617011
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Low-set ears, Aortic valve stenosis, Chiari malformation, Conductive hearing impairment, Abnormal...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Low-set ears, Aortic valve stenosis, Chiari malformation, Conductive hearing impairment, Abnormal...	ORPHA:353277
Kabuki Syndrome 1	Low-set ears, Lateral ventricle dilatation, Hearing impairment, Recurrent otitis media, Ventricul...	OMIM:147920
Alg9-Cdg	Low-set ears, Hypoplasia of the musculature, Cerebellar atrophy, Cerebral atrophy, Large fleshy e...	ORPHA:79328
Iniencephaly	Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Hydrocephalus, Cyst...	ORPHA:63259
Peroxisome Biogenesis Disorder 1B	Optic atrophy, Rod-cone dystrophy	OMIM:601539
Multiple System Atrophy 1, Susceptibility To	Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia	OMIM:146500
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Distal amyotrophy, Basal lamina onion bulb formation, Progressive spastic paraplegia, Demyelinati...	ORPHA:2821
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor	OMIM:614195
Sympathetic Ophthalmia	Macular edema, Vitreous floaters, Papilledema, Retinal detachment, Retinal hemorrhage, Depigmente...	ORPHA:79098
Intellectual Developmental Disorder With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature	Optic atrophy	OMIM:609037
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Inability to walk, Hyperkinetic movements, Lower limb spasticity, Vocal cord ...	OMIM:617799
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia	ORPHA:1578
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Hydrocephalus, Nyctalopia, Cerebellar cortical atrophy, Flexion contracture, Retin...	OMIM:619321
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Hepatitis, Cerebral atrophy, Tetraparesis, Hypertrophic cardiomyopathy, Lower...	OMIM:615846
Tyrosinemia Type 2	Tremor, Ataxia	ORPHA:28378
Parkinson Disease 1, Autosomal Dominant	Gliosis	OMIM:168601
Argininemia	Spastic paraparesis, Cerebellar atrophy, Reduced erythrocyte arginase activity, Progressive spast...	OMIM:207800
Genitourinary And/Or Brain Malformation Syndrome	Low-set ears, Abnormality of the outer ear, Chiari malformation, Agenesis of corpus callosum, Pro...	OMIM:618820
Stt3A-Cdg	Cerebellar atrophy	ORPHA:370921
Phace Association	Optic atrophy, Horner syndrome, Increased retinal vascularity, Optic nerve hypoplasia	OMIM:606519
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Abnormal optic chiasm morphology, Retinal detachment, Gliosis	ORPHA:268261
Sturge-Weber Syndrome	Optic atrophy, Abnormal retinal vascular morphology, Retinal detachment, Abnormal choroid morphology	ORPHA:3205
Hyperoxaluria, Primary, Type I	Optic atrophy, Choroidal neovascularization, Retinal crystals, Retinopathy, Optic neuropathy	OMIM:259900
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Postural tremor, Myoclonus, Gait ataxia, Action tremor, Unsteady gait, Intent...	OMIM:254900
Insensitivity To Pain, Congenital, With Anhidrosis	Pain insensitivity, Decreased number of small peripheral myelinated nerve fibers, Postural hypote...	OMIM:256800
Sacral Defect With Anterior Meningocele	Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract	OMIM:600145
3-Methylglutaconic Aciduria, Type Viia	Delayed CNS myelination, Cerebellar atrophy	OMIM:619835
Ataxia-Telangiectasia	Failure to thrive, Myoclonus, Intention tremor, Tremor, Ataxia, Dystonia, Slurred speech, Dysdiad...	OMIM:208900
Temtamy Preaxial Brachydactyly Syndrome	Abnormal optic disc morphology, Optic atrophy	ORPHA:363417
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Abnormal optic disc morphology, Congenital stationary night blindness	ORPHA:293967
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Spasticity, Bradykinesia, Tremor, Rigidity, Abnormality of extrapyramidal motor fu...	OMIM:234200
Congenital Disorder Of Deglycosylation 1	Decreased sensory nerve conduction velocity, Gliosis	OMIM:615273
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Incoordination, Elevated circulating creatinine concentration, Decreased number of large peripher...	OMIM:223900
Branchiooculofacial Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Branchial anomaly, Low posterior h...	OMIM:113620
Lathosterolosis	Intrahepatic cholestasis, Hepatic failure, Chiari malformation, Hearing impairment, Myoclonus, Ce...	ORPHA:46059
Mitochondrial Complex I Deficiency, Nuclear Type 2	Gliosis	OMIM:618222
Turcot Syndrome With Polyposis	Glioma, Abnormal macular morphology, Epiretinal membrane, Hyperpigmentation of the fundus, Ependy...	ORPHA:99818
Witteveen-Kolk Syndrome	Branchial fistula, Intrauterine growth retardation, Short stature, Intracranial hemorrhage, Growt...	OMIM:613406
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Gliosis, Optic nerve hypoplasia	OMIM:620455
Bardet-Biedl Syndrome 20	Papilledema, Retinal vascular tortuosity, Rod-cone dystrophy	OMIM:619471
Xq21 Microdeletion Syndrome	Optic atrophy, Reticular pigmentary degeneration, Choroideremia, Chorioretinal degeneration, Abno...	ORPHA:1435
Van Esch-O'Driscoll Syndrome	Spasticity, Cerebellar atrophy, Cerebral atrophy, Unilateral vocal cord paralysis, Ventricular se...	OMIM:301030
Dyskeratosis Congenita, Autosomal Recessive 8	Chromosomal breakage induced by crosslinking agents, Cerebellar atrophy	OMIM:620133
Von Hippel-Lindau Disease	Retinal capillary hemangioma, Macular edema, Hypertensive retinopathy, Papilledema, Retinal detac...	ORPHA:892
Skin Creases, Congenital Symmetric Circumferential, 1	Low-set ears, Cerebellar vermis atrophy, Overfolded helix, Posteriorly rotated ears, Dandy-Walker...	OMIM:156610
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Spasticity, Global brain atrophy, Cerebellar atrophy, Cerebral atrophy, Myoclonus, Hypertonia, At...	OMIM:618426
Craniofacial Microsomia 1	Occipital encephalocele, Tetralogy of Fallot, Branchial anomaly, Ventricular septal defect, Hydro...	OMIM:164210
Kenny-Caffey Syndrome, Type 2	Retinal calcification, Papilledema	OMIM:127000
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Intellectual Developmental Disorder, Autosomal Dominant 73	Low-set ears, Cerebellar vermis hypoplasia, Spasticity, Conductive hearing impairment, Tip-toe ga...	OMIM:620450
9Q33.3Q34.11 Microdeletion Syndrome	Low-set ears, Inability to walk, Cerebellar vermis atrophy, Delayed CNS myelination, Spastic tetr...	ORPHA:495818
Pineoblastoma	Papilledema, Retinoblastoma	ORPHA:251909
Supranuclear Palsy, Progressive, 1	Astrocytosis, Gliosis	OMIM:601104
Heterotaxy, Visceral, 5, Autosomal	Total anomalous pulmonary venous return, Cerebellar atrophy, Cerebral atrophy, Atrioventricular c...	OMIM:270100
Monosomy 22Q13.3	Impaired pain sensation, Hearing impairment, Agenesis of corpus callosum, Hypermetropia, Cerebell...	ORPHA:48652
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Small earlobe, Hearing impairment, Delayed peripheral myelination	ORPHA:364577
Cutis Laxa, Autosomal Recessive, Type Iid	Gliosis	OMIM:617403
Supranuclear Palsy, Progressive, 2	Gliosis	OMIM:609454
Semilobar Holoprosencephaly	Abnormal heart morphology, Hydrocephalus, Short stature, Growth delay, Neural tube defect	ORPHA:220386
Alobar Holoprosencephaly	Abnormal heart morphology, Hydrocephalus, Short stature, Growth delay, Neural tube defect	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormal heart morphology, Hydrocephalus, Short stature, Growth delay, Neural tube defect	ORPHA:93926
Lobar Holoprosencephaly	Abnormal heart morphology, Hydrocephalus, Short stature, Growth delay, Neural tube defect	ORPHA:93924
Diets-Jongmans Syndrome	Gliosis	OMIM:618846
Genitopatellar Syndrome	Hearing impairment, Knee flexion contracture, Hip contracture, Ventricular septal defect, Agenesi...	OMIM:606170
Gabriele-De Vries Syndrome	Gliosis	ORPHA:506358
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Abnormal optic disc morphology, Optic nerve hypoplasia, Facial palsy, Retinal coloboma	ORPHA:508498
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly, Retinal dysplasia	OMIM:601374
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Umbilical hernia, Abnormal heart morphology, Short neck, Neural tube d...	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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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

MicroCT E9.5

Eye Morphology

Human diseases caused by Opa1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data