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

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

VIP of left eye

18 Images

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Eye Morphology

VIP of right eye

18 Images

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Eye Morphology

VIP of left fundus

18 Images

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Eye Morphology

VIP of right fundus

18 Images

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MicroCT E9.5

Embryo reconstruction

5 Images

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Human diseases caused by Opa1 mutations

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

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

Human diseases associated with Opa1 (6 diseases)
Human diseases predicted to be associated with Opa1 (1546 diseases)

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

Disease	Matching phenotypes	Source
Optic Atrophy 1	Optic atrophy, Tritanomaly, Central scotoma, Red-green dyschromatopsia, Abnormal amplitude of pat...	OMIM:165500
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Tritanomaly, Dyschromatopsia, Central scotoma, Progressive sensorineural hearing i...	OMIM:125250
Autosomal Dominant Optic Atrophy Plus Syndrome	Constriction of peripheral visual field, Optic atrophy, Temporal optic disc pallor, Sensorineural...	ORPHA:1215
Behr Syndrome	Optic atrophy, Adductor longus contractures, Babinski sign, Cerebellar vermis atrophy, Sensory ax...	OMIM:210000
Autosomal Dominant Optic Atrophy, Classic Form	Optic atrophy, Color vision defect, Weakness of facial musculature, Central scotoma, Temporal opt...	ORPHA:98673
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Optic atrophy, Hypertonia, Sensorineural hearing impairment, Decreased activity of mitochondrial ...	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	Cystoid macular edema, Rod-cone dystrophy, Perifoveal ring of hyperautofluorescence, Peripapillar...	OMIM:612943
Optic Atrophy 5	Constriction of peripheral visual field, Optic atrophy, Tritanomaly, Abnormality of pattern visua...	OMIM:610708
Retinitis Pigmentosa 36	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:610599
Retinal Dysplasia, Primary	Falciform retinal fold, Retinal dysplasia	OMIM:312550
Leber Congenital Amaurosis 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:612712
Auditory Neuropathy And Optic Atrophy	Optic atrophy, Rod-cone dystrophy	OMIM:617717
Optic Atrophy 2	Babinski sign, Dysdiadochokinesis, Tremor	OMIM:311050
Autosomal Recessive Spastic Paraplegia Type 74	Optic atrophy, Babinski sign, Distal lower limb muscle weakness, Difficulty walking, Peripheral a...	ORPHA:468661
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech	OMIM:613227
Stargardt Disease	Retinal thinning, Color vision defect, Central scotoma, Macular degeneration, Photopsia, Abnormal...	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, Spastic gait, Babinski sign, Ragged-red muscle fibers, Impaired vibration sensatio...	ORPHA:99013
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Babinski sign, Torticollis, Cerebellar vermis atrophy, Sensory axonal neuropathy, Frequent falls,...	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	Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, 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	Optic atrophy, Hypertonia, Central scotoma, Cerebellar vermis hypoplasia, Abnormal mitochondrial ...	ORPHA:543470
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Sensorineural hearing impairment, Incoordination, Cerebellar atrophy, Tip-toe gait, Babinski sign...	OMIM:302800
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy, Decreased nerve conduction velocity, Hypsarrhythmia, Abnormal mitochondrial shape,...	ORPHA:485421
Optic Atrophy 8	Optic atrophy, Abnormality of pattern visual evoked potentials, Visual loss, Central scotoma, Abn...	OMIM:616648
Primary Orthostatic Tremor	Abnormality of extrapyramidal motor function, Tremor	ORPHA:238606
Spastic Paraplegia 79B, Autosomal Recessive	Visual loss, Fasciculations, Cerebellar atrophy, Spastic paraplegia, Head titubation, Ataxia, Red...	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	Cerebral atrophy, Optic atrophy, Chorea, Spasticity, Decreased activity of mitochondrial complex ...	ORPHA:508093
Optic Atrophy 1	Optic atrophy, Tritanomaly, Central scotoma, Red-green dyschromatopsia, Abnormal amplitude of pat...	OMIM:165500
Charcot-Marie-Tooth Disease Type 2B1	Peroneal muscle atrophy, Decreased number of large peripheral myelinated nerve fibers, Proximal m...	ORPHA:98856
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Optic atrophy, Distal sensory impairment, Onion bulb formation, Sensorineural hearing impairment,...	OMIM:311070
Intellectual Developmental Disorder And Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Abnormal flash visual evoked potentials, Macular degener...	OMIM:618195
Leber Congenital Amaurosis 19	Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor	OMIM:618513
Friedreich Ataxia	Optic atrophy, Babinski sign, Decreased sensory nerve conduction velocity, Impaired proprioceptio...	OMIM:229300
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Tritanomaly, Dyschromatopsia, Central scotoma, Progressive sensorineural hearing i...	OMIM:125250
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Spinocerebellar Ataxia Type 15/16	Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A...	ORPHA:98769
Canavan Disease	Optic atrophy, Cognitive impairment, Abnormality of visual evoked potentials, Abnormality of reti...	ORPHA:141
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Babinski sign, Distal lower limb muscle weakness, Distal lower limb amyotrophy, Impaired proprioc...	OMIM:500013
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Distal sensory impairment, Claw hand deformity, Impaired dis...	OMIM:601455
Retinitis Pigmentosa 30	Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret...	OMIM:607921
Peroxisome Biogenesis Disorder 8B	Decreased liver function, Cerebellar atrophy, Corpus callosum atrophy, Gait ataxia, Rigidity, Ata...	OMIM:614877
Autosomal Dominant Optic Atrophy Plus Syndrome	Constriction of peripheral visual field, Optic atrophy, Temporal optic disc pallor, Sensorineural...	ORPHA:1215
Ocular Pigment Dispersion With Or Without Glaucoma	Optic atrophy	OMIM:600510
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication	OMIM:619491
Choroidal Dystrophy, Central Areolar, 1	Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy	OMIM:215500
Retinitis Pigmentosa 57	Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess...	OMIM:613582
Retinitis Pigmentosa 71	Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence...	OMIM:616394
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Decreased nerve conduction velocity, Tremor, Bilateral sensorineural hearing impairment, EMG: myo...	ORPHA:397744
Hsd10 Mitochondrial Disease	Optic atrophy, Visual loss, Sensorineural hearing impairment, Spasticity, Hypertrophic cardiomyop...	OMIM:300438
Late-Infantile/Juvenile Krabbe Disease	Visual loss, Abnormal CNS myelination, Tetraplegia, Upper limb muscle weakness, Ataxia, Acropares...	ORPHA:206443
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Optic atrophy, Flexion contracture of toe, Cerebellar atrophy, EEG with occipital epileptiform di...	OMIM:619323
Krabbe Disease	Optic atrophy, Hypertonia, Decreased nerve conduction velocity, Abnormal flash visual evoked pote...	OMIM:245200
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Steppage gait, Difficulty walking, Distal sensory impairment, Broad-based gait, Distal amyotrophy...	OMIM:614895
Intracranial Hypertension, Idiopathic	Papilledema	OMIM:243200
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Babinski sign, Distal lower limb muscle weakness, Difficulty walking, Distal sensory impairment, ...	OMIM:618279
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Difficulty walking, Distal sensory im...	OMIM:601596
Subacute Inflammatory Demyelinating Polyneuropathy	Positive Romberg sign, Demyelinating motor neuropathy, Decreased distal sensory nerve action pote...	ORPHA:206594
Dystonia 3, Torsion, X-Linked	Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication...	OMIM:314250
Retinitis Pigmentosa 33	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:610359
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Babinski sign, Decreased sensory nerve conduction velocity, Hypertonia, Distal sen...	OMIM:609260
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Cerebral atrophy, Undetectable electroretinogram, Abnormality of pattern visual evoked potentials...	ORPHA:1947
Spinocerebellar Ataxia Type 31	Impaired vibratory sensation, Spasticity, Tremor, Gait ataxia	ORPHA:217012
Spinocerebellar Ataxia Type 43	Limb ataxia, Distal lower limb muscle weakness, Progressive cerebellar ataxia, Distal sensory imp...	ORPHA:497764
Nescav Syndrome	Cerebral atrophy, Optic atrophy, Babinski sign, Inability to walk, Appendicular spasticity, Cereb...	OMIM:614255
Lipedema	Edema	OMIM:614103
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Decreased distal sensory nerve action potential, Decreased nerve conduction velocity, Distal sens...	OMIM:601098
Adult Krabbe Disease	Visual loss, Upper limb muscle weakness, Ataxia, Abnormal pons morphology, Acroparesthesia, Clums...	ORPHA:206448
Spastic Paraplegia 55, Autosomal Recessive	Optic atrophy, Babinski sign, Steppage gait, Difficulty walking, Distal sensory impairment, Lower...	OMIM:615035
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Impaired vibratory sensation, Quadriceps muscle weakness, Proximal muscle weakness in lower limbs...	ORPHA:101097
Spinocerebellar Ataxia 20	Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor	OMIM:608687
Foveal Hypoplasia-Presenile Cataract Syndrome	Optic atrophy	ORPHA:2253
Muscular Dystrophy, Congenital, Megaconial Type	Muscular dystrophy, Facial palsy, Waddling gait, Mitochondrial hypertrophy, Dilated cardiomyopath...	OMIM:602541
Spastic Ataxia 7, Autosomal Dominant	Optic atrophy	OMIM:108650
Charcot-Marie-Tooth Disease, Type 4A	Inability to walk by childhood/adolescence, Decreased sensory nerve conduction velocity, Distal s...	OMIM:214400
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Optic atrophy, Color vision defect, Steppage gait, Distal sensory impairment, Central scotoma, Po...	OMIM:601152
Spinocerebellar Ataxia Type 1	Optic atrophy, Bradykinesia, Impaired proprioception, Progressive cerebellar ataxia, Abnormal ner...	ORPHA:98755
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Mohr-Tranebjaerg Syndrome	Color vision defect, Prelingual sensorineural hearing impairment, Visual loss, Central scotoma, S...	ORPHA:52368
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Babinski sign, Spasticity, Tremor, Ataxia, Flexion contracture	OMIM:611105
Spinocerebellar Ataxia 43	Limb ataxia, Distal sensory impairment, Tremor, Gait ataxia, Rigidity, Ataxia	OMIM:617018
Chronic Inflammatory Demyelinating Polyneuropathy	Decreased nerve conduction velocity, Difficulty walking, Abnormal nerve conduction velocity, Pare...	ORPHA:2932
Retinitis Pigmentosa 95	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of...	OMIM:620102
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Tip-toe gait, Steppage gait, Distal sensory impairment, Axonal degeneration, Fasciculations, Dist...	OMIM:614436
Retinitis Pigmentosa 63	Rod-cone dystrophy, Optic disc pallor	OMIM:614494
Peripheral Cone Dystrophy	Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor	OMIM:609021
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Optic atrophy, Bradykinesia, Visual loss, Progressive sensorineural hearing impairment, Periphera...	OMIM:601338
Retinitis Pigmentosa 81	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:617871
2,4-Dienoyl-Coa Reductase Deficiency	Cerebral atrophy, Optic atrophy, Hypermetropia, Hydrocephalus, Incoordination, Tetraplegia, Spast...	OMIM:616034
Ceroid Lipofuscinosis, Neuronal, 11	Optic atrophy, Retinal dystrophy, EEG with generalized polyspikes, Cerebellar atrophy, Ataxia, Vi...	OMIM:614706
Null Syndrome	Optic atrophy, Decreased nerve conduction velocity, Difficulty walking, Inability to walk, Demyel...	ORPHA:280234
Myoclonus, Familial, 1	Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus	OMIM:614937
Primary Dystonia, Dyt27 Type	Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto...	ORPHA:464440
Dystonia 27	Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo...	OMIM:616411
Frontotemporal Dementia With Motor Neuron Disease	Babinski sign, Global brain atrophy, Progressive cerebellar ataxia, Apraxia, Abnormal upper motor...	ORPHA:275872
Combined Oxidative Phosphorylation Defect Type 29	Global brain atrophy, Subependymal cysts, Axonal degeneration, Poor coordination, Decreased activ...	ORPHA:478029
Infantile Neuroaxonal Dystrophy	Optic atrophy, Peripheral axonal neuropathy, Spasticity, Progressive spasticity, Cerebellar atrop...	ORPHA:35069
Charcot-Marie-Tooth Disease Type 4G	Decreased distal sensory nerve action potential, Distal lower limb muscle weakness, Difficulty wa...	ORPHA:99953
Retinitis Pigmentosa 62	Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves...	OMIM:614181
Pontocerebellar Hypoplasia, Type 1A	Limb ataxia, Fasciculations, Tongue fasciculations, Distal amyotrophy, Demyelinating peripheral n...	OMIM:607596
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Steppage gait, Distal sensory impairment, Peripheral axonal neuropathy, Distal amyotrophy, Facial...	OMIM:118210
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Decreased distal sensory nerve action potential, Proximal muscle weakness in upper limbs, Impaire...	OMIM:607706
Leukoencephalopathy, Brain Calcifications, And Cysts	Abnormality of extrapyramidal motor function, Spasticity, Tremor, Dystonia, Ataxia, Abnormal pyra...	OMIM:614561
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Ragged-red muscle fib...	ORPHA:457050
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased sensory nerve conduction velocity, Distal lower limb muscle weakness, Distal sensory im...	OMIM:145900
Combined Oxidative Phosphorylation Deficiency 29	Optic atrophy, Global brain atrophy, Subependymal cysts, Axonal degeneration, Spasticity, Decreas...	OMIM:616811
Dystonia-Aphonia Syndrome	Cerebral atrophy, Abnormal mitochondrial shape, Cerebellar atrophy, Gait disturbance, Mixed demye...	ORPHA:412217
Mitochondrial Complex I Deficiency, Nuclear Type 19	Optic atrophy, Inability to walk, Decreased activity of mitochondrial complex I, Cerebellar atrop...	OMIM:618241
Tremor, Hereditary Essential, 1	Action tremor, Hand tremor, Postural tremor	OMIM:190300
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormality of visual evok...	ORPHA:1933
Posterior Column Ataxia With Retinitis Pigmentosa	Undetectable electroretinogram, Bone spicule pigmentation of the retina, Positive Romberg sign, A...	OMIM:609033
Late Infantile Neuronal Ceroid Lipofuscinosis	Visual loss, Cerebellar atrophy, Corpus callosum atrophy, Ataxia, Reduced visual acuity, Myoclonu...	ORPHA:168491
Ceroid Lipofuscinosis, Neuronal, 7	Cerebral atrophy, Optic atrophy, Visual loss, Cerebellar atrophy, Pigmentary retinopathy, Retinop...	OMIM:610951
Neurodegeneration With Brain Iron Accumulation 2A	Cerebral atrophy, Optic atrophy, Decreased nerve conduction velocity, Visual loss, Neuronal loss ...	OMIM:256600
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Prolonged neonatal jaundice, Abnormal atrial septum morphology, Ataxia, Palat...	ORPHA:909
Spastic Paraplegia 74, Autosomal Recessive	Optic atrophy, Peripheral axonal neuropathy	OMIM:616451
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Spastic paraplegia, Tremor	OMIM:309560
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Steppage gait, Distal sensory impairment, Hypertrophic nerve changes, Distal amyotrophy, Limb mus...	OMIM:118220
Night Blindness, Congenital Stationary, Type 1G	Congenital stationary night blindness, Rod-cone dystrophy, Optic disc pallor	OMIM:616389
Retinitis Pigmentosa 28	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:606068
Charcot-Marie-Tooth Disease, Type 4H	Peripheral hypomyelination, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Dist...	OMIM:609311
Liberfarb Syndrome	Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin...	OMIM:618889
Optic Atrophy 3, Autosomal Dominant	Optic atrophy, Optic disc pallor	OMIM:165300
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Optic atrophy, Peripheral axonal neuropathy, Distal amyotrophy, Cerebellar atrophy, Spinal muscul...	ORPHA:496756
Autosomal Spastic Paraplegia Type 30	Spastic gait, Babinski sign, Distal sensory impairment, Scissor gait, Lower limb spasticity, Dist...	ORPHA:101010
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Autosomal Recessive Progressive External Ophthalmoplegia	Dyschromatopsia, Optic neuritis, Parkinsonism with favorable response to dopaminergic medication,...	ORPHA:254886
Spinocerebellar Ataxia Type 25	Babinski sign, Progressive cerebellar ataxia, Distal sensory impairment, Spastic dysarthria, Impa...	ORPHA:101111
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Dysplastic corpus callosum, Global brain atrophy, Inability to walk, Tongue fasciculations, Spast...	OMIM:618276
Cone-Rod Dystrophy 17	Cone/cone-rod dystrophy, Optic disc pallor	OMIM:615163
Optic Atrophy 6	Optic atrophy, Retinal degeneration	OMIM:258500
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Distal sensory impairment, Distal amyotrophy, Tremor, Decreased number of peripheral myelinated n...	OMIM:607734
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased distal sensory nerve action potential, Distal lower limb muscle weakness, Steppage gait...	OMIM:607684
Mitochondrial Complex I Deficiency, Nuclear Type 15	Optic atrophy, Decreased activity of mitochondrial complex I, Cerebellar atrophy, Hypertrophic ca...	OMIM:618237
Ceroid Lipofuscinosis, Neuronal, 9	Optic atrophy, Rod-cone dystrophy	OMIM:609055
Autosomal Recessive Spastic Paraplegia Type 71	Spastic gait, Babinski sign, Lower limb spasticity, Hand tremor, Progressive spastic paraplegia	ORPHA:401840
Retinitis Pigmentosa 50	Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt...	OMIM:613194
Roussy-Levy Hereditary Areflexic Dystasia	Distal sensory impairment, Hypertrophic nerve changes, Distal amyotrophy, Gait ataxia, Action tre...	OMIM:180800
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Distal sensory impairment, Axonal degeneration, Distal amyotrophy, Decreased number of peripheral...	OMIM:606482
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Sensorineural hearing impairment, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Sk...	OMIM:619518
Wagner Vitreoretinopathy	Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy...	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	Steppage gait, Distal sensory impairment, Hypertrophic nerve changes, Distal amyotrophy, Limb mus...	OMIM:118200
Retinitis Pigmentosa 32	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti...	OMIM:609913
Spinocerebellar Ataxia 1	Fasciculations, Chorea, Impaired vibratory sensation, Optic atrophy, Babinski sign, Impaired prop...	OMIM:164400
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Steppage gait, Distal sensory impairment, Distal amyotrophy, Upper limb muscle weakness, Limb mus...	OMIM:608340
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Optic atrophy, Inability to walk, Appendicular spasticity, Cerebellar atrophy, Cerebral visual im...	OMIM:618324
Cach Syndrome	Cerebral atrophy, Optic atrophy, Limb ataxia, Atrophy/Degeneration affecting the brainstem, Cereb...	ORPHA:135
Episodic Ataxia, Type 8	Ataxia, Episodic ataxia, Slurred speech, Intention tremor	OMIM:616055
Retinitis Pigmentosa 26	Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor	OMIM:608380
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Decreased sensory nerve conduction velocity, Difficulty walking, Distal sensory impairment, Dista...	OMIM:608323
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig...	OMIM:613830
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Spastic gait, Babinski sign, Chiari type I malformation, Impaired distal proprioception, Demyelin...	OMIM:619742
Autosomal Recessive Spastic Paraplegia Type 44	Difficulty walking, Lower limb spasticity, Sensorineural hearing impairment, Abnormal auditory ev...	ORPHA:320401
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Limb ataxia, Distal sensory impairment, Oculomotor apraxia, Axonal degeneration, Chorea, Distal a...	OMIM:208920
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic atrophy, Difficulty walking, Distal sensory impairment, Lower limb amyotrophy, Peripheral a...	OMIM:617087
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Decreased n...	OMIM:618138
Retinitis Pigmentosa 11	Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore...	OMIM:600138
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
Ataxia With Vitamin E Deficiency	Hypertonia, Dysdiadochokinesis, Tremor, Hypertrophic cardiomyopathy, Gait disturbance, Abnormalit...	ORPHA:96
Combined Oxidative Phosphorylation Defect Type 27	Progressive visual loss, Ragged-red muscle fibers, EEG with periodic lateralized epileptiform dis...	ORPHA:477774
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Cardiomyopathy, Olivopontocerebellar hypoplasia, Myopia, Ventriculomegaly...	ORPHA:370959
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia	OMIM:618425
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebral atrophy, Inability to walk, Abnormality of extrapyramidal motor function, Chorea, Spasti...	OMIM:617672
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Nonarteritic anterior ischemic optic neuropathy, Visual loss, Dementia, Memory impairment, Subcor...	OMIM:125310
Angioedema, Hereditary, 6	Angioedema, Facial edema, Edema of the dorsum of hands	OMIM:619363
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Distal lower limb muscle weakness, Steppage gait, Distal sensory impairment, Impaired pain sensat...	OMIM:615185
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Babinski sign, Limb ataxia, Lower limb spasticity, Cerebellar vermis atrophy, Spas...	OMIM:614322
Intellectual Developmental Disorder, Autosomal Dominant 56	Hypomimic face, Bradykinesia, Pontocerebellar atrophy, Inability to walk, Lower limb spasticity, ...	OMIM:617854
Segawa Syndrome, Autosomal Recessive	Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop...	OMIM:605407
Giant Axonal Neuropathy 2, Autosomal Dominant	Steppage gait, Peripheral axonal neuropathy, Distal amyotrophy, Cardiomyopathy, Impaired distal v...	OMIM:610100
Retinitis Pigmentosa 38	Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor	OMIM:613862
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus	ORPHA:401901
Spinocerebellar Ataxia 40	Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Ankle clonus, Spastic parapare...	OMIM:616053
Spastic Paraplegia 75, Autosomal Recessive	Optic atrophy, Spastic gait, Babinski sign, Spastic dysarthria, Hypermetropia, Spasticity, Cerebe...	OMIM:616680
Neuropathy, Hereditary, With Liability To Pressure Palsies	Hand paresthesia, Vocal cord paralysis, Hand muscle weakness, Hypoesthesia, Decreased motor nerve...	OMIM:162500
Tremor Of Intention, Ataxia, And Lipofuscinosis	Ataxia, Intention tremor	OMIM:190200
Spinocerebellar Ataxia Type 38	Tremor, Somatic sensory dysfunction, Gait ataxia	ORPHA:423296
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Steppage gait, Difficulty walking, Distal sensory impairment, Distal amyotrophy, Thenar muscle at...	OMIM:606483
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Cerebral atrophy, Optic atrophy, Visual loss, Truncal ataxia, Cerebellar atrophy	OMIM:611726
Spinocerebellar Ataxia 37	Tremor, Ataxia, Frequent falls	OMIM:615945
Spinocerebellar Ataxia, X-Linked 5	Action tremor, Ataxia	OMIM:300703
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy, Difficulty walking, Inability to walk, Tremor, Cerebellar atrophy, Diffuse cerebra...	ORPHA:330050
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Optic atrophy, Babinski sign, Cerebellar cortical atrophy, Atrophy/Degeneration affecting the bra...	OMIM:271245
Mitochondrial Complex I Deficiency, Nuclear Type 12	Gait imbalance, Decreased activity of mitochondrial complex I, Cerebellar atrophy, Frequent falls...	OMIM:301020
Retinitis Pigmentosa 76	Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, C...	OMIM:617123
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Fumarase Deficiency	Cerebral atrophy, Optic atrophy, Decreased fumarate hydratase activity, Intrahepatic cholestasis,...	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	Incoordination, Cerebellar atrophy, Gait apraxia, Gait ataxia, Ataxia, Babinski sign, Limb fascic...	OMIM:615157
Spastic Paraplegia 32, Autosomal Recessive	Cerebral atrophy, Spastic gait, Babinski sign, Difficulty walking, Lower limb spasticity, Cerebel...	OMIM:611252
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Cerebral atrophy, Steppage gait, Distal sensory impairment, Impaired distal proprioception, Perip...	OMIM:607250
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Demyelinating peripheral neuropathy, Cerebellar atrophy, Gait ataxia, Ataxia, Mitral valve prolap...	ORPHA:98
Spinocerebellar Ataxia, Autosomal Recessive 2	Limb ataxia, Cerebellar vermis atrophy, Incoordination, Tremor, Spasticity, Gait ataxia, Dilated ...	OMIM:213200
Severe X-Linked Intellectual Disability, Gustavson Type	Optic atrophy, Hypertonia, Dandy-Walker malformation, Brain atrophy, Abnormal pinna morphology, V...	ORPHA:3078
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Distal sensory impairment, Peripheral axonal neuropathy, Distal amyotrophy, Decreased amplitude o...	OMIM:608673
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Optic atrophy	OMIM:618572
Primary Dystonia, Dyt13 Type	Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio...	ORPHA:98807
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Steppage gait, Peripheral axonal neuropathy, Limb muscle weakness, Skeletal muscle atrophy, Axona...	OMIM:620378
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Cerebral atrophy, Acute rhabdomyolysis, Peripheral hypomyelination, Babinski sign, Axonal degener...	OMIM:604168
Olivopontocerebellar Atrophy-Deafness Syndrome	Optic atrophy, Chorioretinal coloboma	ORPHA:2732
X-Linked Spinocerebellar Ataxia Type 4	Abnormal pyramidal sign, Progressive cerebellar ataxia, Postural tremor	ORPHA:85292
Autosomal Spastic Paraplegia Type 72	Spastic gait, Rigidity, Impaired vibration sensation at ankles, Postural tremor	ORPHA:401849
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Optic atrophy, Peripheral axonal neuropathy, Distal amyotrophy, Spasticity, Cerebellar atrophy, S...	OMIM:617207
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic atrophy, Optic disc pallor	OMIM:182830
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated circulating hepatic transaminase concentration, Abnormal mitochondrial shape, Sensorineu...	ORPHA:17
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Steppage gait, Distal sensory impairment, Progressive sensorineural hearing impairment, Sensorine...	OMIM:607736
Oculocutaneous Albinism Type 1	Optic nerve misrouting, Photophobia, Abnormal morphology of the choroidal vasculature, Depigmente...	ORPHA:352731
Spinocerebellar Ataxia, Autosomal Recessive 29	Inability to walk, Lower limb spasticity, Cerebellar vermis atrophy, Peripheral axonal neuropathy...	OMIM:619389
Usher Syndrome, Type Iiib	Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye maculopathy	OMIM:614504
Retinitis Pigmentosa 88	Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation...	OMIM:618826
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Distal sensory impairment	OMIM:614369
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Cerebral atrophy, Babinski sign, Caudate atrophy, Apraxia, Abnormal upper motor neuron morphology...	OMIM:221770
Epilepsy, Progressive Myoclonic, 1B	Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria	OMIM:612437
Leukoencephalopathy, Progressive, With Ovarian Failure	Babinski sign, Apraxia, Spasticity, Cerebellar atrophy, Ataxia, Lateral ventricle dilatation, Han...	OMIM:615889
Charcot-Marie-Tooth Disease, Type 4B2	Steppage gait, Difficulty walking, Distal sensory impairment, Sensorineural hearing impairment, D...	OMIM:604563
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Spastic dysarthria, Oculomotor apraxia, Peripheral axonal neuropathy, Distal amyotrophy, Spastici...	ORPHA:313772
Spinocerebellar Ataxia, Autosomal Recessive 13	Inferior cerebellar vermis hypoplasia, Inability to walk, Dysdiadochokinesis, Tremor, Cerebellar ...	OMIM:614831
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Hemiballismus, Frequent falls, Tremor, Chorea	ORPHA:494526
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology, Gait imbalance, Hypermetropia, EEG with focal spikes, Cere...	ORPHA:488635
Spastic Paraplegia 57, Autosomal Recessive	Optic atrophy	OMIM:615658
Episodic Kinesigenic Dyskinesia 2	Paroxysmal dyskinesia, Chorea, Dystonia, Involuntary movements	OMIM:611031
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short stature, Abnormality of visual evoked potentials, Cerebral visual impairment	ORPHA:1389
Behr Syndrome	Optic atrophy, Adductor longus contractures, Babinski sign, Cerebellar vermis atrophy, Sensory ax...	OMIM:210000
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Cerebral atrophy, Optic atrophy, Limb hypertonia, Hypermetropia, Brain atrophy, Cerebellar atroph...	OMIM:616875
Tremor, Hereditary Essential, 6	Postural tremor, Kinetic tremor, Vocal tremor, Head tremor	OMIM:618866
Spastic Paraplegia 43, Autosomal Recessive	Optic atrophy	OMIM:615043
Dyskinesia, Limb And Orofacial, Infantile-Onset	Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls	OMIM:616921
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Optic atrophy	ORPHA:2773
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst...	ORPHA:179
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Demyelinating motor neuropathy, Ankle flexion contracture, Peripheral axonal neuropathy, Type 1 m...	OMIM:617519
Autosomal Spastic Paraplegia Type 58	Fasciculations, Chorea, Cerebellar atrophy, Gait ataxia, Reduced visual acuity, Tip-toe gait, Bab...	ORPHA:397946
Machado-Joseph Disease	Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Facial-lingual fascicula...	OMIM:109150
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities	Cerebral atrophy, Optic atrophy, Pontocerebellar atrophy, Retinal dystrophy, Brain atrophy, Cereb...	OMIM:620428
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Steppage gait, Distal sensory impairment, Distal amyotrophy, Upper limb muscle weakness, Decrease...	OMIM:605588
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Cerebellar atrophy, Clumsiness, Dysmyelinating leukodystrophy, Optic atrophy, Babinski sign, Gene...	ORPHA:137898
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Distal lower limb muscle weakness, Distal lower limb amyotrophy, Steppage gait, Decreased compoun...	OMIM:600882
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Cerebellar vermis hypoplasia, Abnormal auditory evoked potentials, Frequent falls, Hypoplasia of ...	OMIM:617523
Combined Oxidative Phosphorylation Deficiency 38	Decreased activity of mitochondrial complex I, Low-set ears, Hypertrophic cardiomyopathy, Abnorma...	OMIM:618378
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:614500
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Involuntary movements, Myoclonus, Postural tremor, Kinetic tremor	OMIM:611092
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Babinski sign, Sensory axonal neuropathy, Hypoplasia of the pons, Increased variability in muscle...	OMIM:620542
Sandhoff Disease, Adult Form	Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia	ORPHA:309169
Spinocerebellar Ataxia Type 20	Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l...	ORPHA:101110
Lambert Syndrome	Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect	ORPHA:1296
Xq12-Q13.3 Duplication Syndrome	Hypsarrhythmia, Impaired pain sensation, Cleft earlobe, Generalized amyotrophy, Abnormality of vi...	ORPHA:314389
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Charcot-Marie-Tooth Disease Type 4A	Demyelinating peripheral neuropathy, Poor gross motor coordination, Impaired distal vibration sen...	ORPHA:99948
Charcot-Marie-Tooth Disease, Type 4B1	Distal sensory impairment, Distal amyotrophy, Facial palsy, Abnormal auditory evoked potentials, ...	OMIM:601382
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Optic atrophy, Hypoplasia of the fovea	OMIM:620086
Irvan Syndrome	Optic atrophy, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional retinal detachm...	ORPHA:209943
Pontocerebellar Hypoplasia, Type 1E	Optic atrophy, Elbow flexion contracture, Cerebellar atrophy, Myoclonus, Hypoplasia of the pons, ...	OMIM:619303
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, H...	ORPHA:370022
Charcot-Marie-Tooth Disease, Type 4K	Difficulty walking, Sensorineural hearing impairment, Hearing impairment, Ataxia, Skeletal muscle...	OMIM:616684
Dystonia, Dopa-Responsive	Bradykinesia, Babinski sign, Writer's cramp, Torticollis, Resting tremor, Incoordination, Spastic...	OMIM:128230
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Abnormality of visual evoked potentials, Abnormal electroretinogram, Myopia, EEG a...	ORPHA:2971
Ceroid Lipofuscinosis, Neuronal, 8	Cerebral atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Ataxia, Los...	OMIM:600143
Combined Oxidative Phosphorylation Defect Type 39	Cerebral atrophy, Tip-toe gait, Babinski sign, Decreased nerve conduction velocity, Limb hyperton...	ORPHA:565624
Giant Axonal Neuropathy 1, Autosomal Recessive	Steppage gait, Distal sensory impairment, Photophobia, Sensory axonal neuropathy, Distal amyotrop...	OMIM:256850
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Inability to walk, Axonal degeneration, Broad-based gait, Peripheral axonal neuropathy, Vocal cor...	OMIM:615490
Tremor, Hereditary Essential, 5	Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor	OMIM:616736
Infantile Krabbe Disease	Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc...	ORPHA:206436
Spinocerebellar Ataxia 28	Limb ataxia, Babinski sign, Ragged-red muscle fibers, Abnormal activity of mitochondrial respirat...	OMIM:610246
Charcot-Marie-Tooth Disease, Type 4J	Peripheral hypomyelination, Decreased nerve conduction velocity, Ankle flexion contracture, Dista...	OMIM:611228
Retinitis Pigmentosa 19	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:601718
Microcephaly, Seizures, And Developmental Delay	Ventriculomegaly, Ataxia, Cerebellar atrophy, Skeletal muscle atrophy	OMIM:613402
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Decreased nerve conduction velocity, Distal sensory impairment, Gait disturbance, Hand muscle atr...	ORPHA:99944
Pyruvate Dehydrogenase E1-Alpha Deficiency	Cerebral atrophy, Cerebellar cyst, Inability to walk, Hypsarrhythmia, EEG with focal spikes, EEG ...	ORPHA:79243
Spinocerebellar Ataxia 2	Oculomotor apraxia, Fasciculations, Cerebellar atrophy, Action tremor, Rigidity, Ataxia, Myoclonu...	OMIM:183090
Progressive Myoclonic Epilepsy Type 1	Limb ataxia, Intention tremor, Morning myoclonic jerks, Ataxia, Myoclonus	ORPHA:308
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Impaired proprioception, Bone spicule pigmentation of the retina, Visual loss, Truncal titubation...	ORPHA:88628
Autosomal Recessive Spastic Paraplegia Type 46	Cerebral atrophy, Babinski sign, Abnormal sperm head morphology, Difficulty walking, Impaired vib...	ORPHA:320391
Spinocerebellar Ataxia, Autosomal Recessive 4	Babinski sign, Torticollis, Fasciculations, Peripheral axonal neuropathy, Distal amyotrophy, Trem...	OMIM:607317
Machado-Joseph Disease Type 3	Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Degeneration of the ...	ORPHA:276244
Microphthalmia-Brain Atrophy Syndrome	Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem, Spasticity, Corpus callo...	ORPHA:77299
Leber Hereditary Optic Neuropathy	Optic atrophy, Retinal telangiectasia, Myopathy, Central scotoma, Slow decrease in visual acuity,...	ORPHA:104
Combined Oxidative Phosphorylation Deficiency 24	Optic atrophy, Ragged-red muscle fibers, Neuronal loss in central nervous system, Spasticity, Dec...	OMIM:616239
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Plantar flexion contracture, Axonal degeneration, Peripheral axonal neuropathy, Diaphragmatic par...	OMIM:620011
Neuropathy, Hereditary Motor And Sensory, Russe Type	Peripheral hypomyelination, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Claw...	OMIM:605285
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Steppage gait, Distal sensory impairment, Distal amyotrophy, Axonal regeneration, Decreased numbe...	OMIM:607731
Optic Atrophy 15	Optic atrophy, Optic disc pallor	OMIM:620583
Spastic Paraplegia 11, Autosomal Recessive	Spastic gait, Tip-toe gait, Babinski sign, Lower limb spasticity, Ankle clonus, Macular degenerat...	OMIM:604360
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Cerebral atrophy, Babinski sign, Peripheral axonal neuropathy, Spasticity, Cerebellar atrophy, Wa...	OMIM:619090
Spastic Paraplegia 85, Autosomal Recessive	Optic atrophy, Babinski sign, Impaired proprioception, Torticollis, Impaired temperature sensatio...	OMIM:619686
Parkinsonism With Spasticity, X-Linked	Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism	OMIM:300911
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Steppage gait, Distal sensory impairment, Distal amyotrophy, Upper limb muscle weakness, Decrease...	OMIM:607677
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Cerebral atrophy, Optic atrophy, Limb hypertonia, Abnormal pinna morphology, Cerebral visual impa...	ORPHA:480898
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Steppage gait, Distal sensory impairment, Axonal degeneration, Upper limb muscle weakness, Gait d...	OMIM:616155
Infantile Neuronal Ceroid Lipofuscinosis	Undetectable electroretinogram, Visual loss, Chorea, Cerebellar atrophy, Ataxia, Myoclonus, Clums...	ORPHA:79263
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Distal sensory impairment, Axonal degeneration, Fasciculations, Tetraplegia, Gait disturbance, Pr...	OMIM:604484
Spinocerebellar Ataxia 31	Limb ataxia, Sensorineural hearing impairment, Cerebellar atrophy, Gait ataxia, Ataxia	OMIM:117210
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A	Cerebral atrophy, Hypertonia, Lower limb spasticity, Cerebellar atrophy, Upper limb spasticity, A...	OMIM:613925
Joubert Syndrome 3	Elongated superior cerebellar peduncle, Retinal dystrophy, Cerebellar vermis hypoplasia, Oculomot...	OMIM:608629
Neuropathy, Congenital Hypomyelinating, 2	Inability to walk, Distal amyotrophy, Facial diplegia, Sensory ataxia, Decreased number of periph...	OMIM:618184
Infantile-Onset Spinocerebellar Ataxia	Optic atrophy, Abnormality of the autonomic nervous system	ORPHA:1186
Retinitis Pigmentosa 79	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O...	OMIM:617460
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Limb ataxia, Visual loss, Undetectable visual evoked potentials, Truncal ataxia, Ventricular hype...	OMIM:619051
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Steppage gait, Demyelinating sensory neuropathy, Distal sensory impairment, Peripheral axonal neu...	OMIM:618387
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Distal lower limb muscle weakness, Decreased nerve conduction velocity, Impaired vibration sensat...	ORPHA:90103
Spastic Ataxia, Charlevoix-Saguenay Type	Spastic gait, Peroneal muscle atrophy, Ataxia, Decreased number of large peripheral myelinated ne...	OMIM:270550
Retinitis Pigmentosa 73	Constriction of peripheral visual field, Color vision defect, Bone spicule pigmentation of the re...	OMIM:616544
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Steppage gait, Distal sensory impairment, Onion bulb formation, Foot dorsiflexor weakness	OMIM:616039
Autosomal Dominant Spastic Ataxia Type 1	Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Impaired proprioception...	ORPHA:251282
Developmental And Epileptic Encephalopathy 76	Cerebral atrophy, Inability to walk, Lower limb spasticity, Cerebellar atrophy, Upper limb spasti...	OMIM:618468
Spinocerebellar Ataxia 38	Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus	OMIM:615957
Optic Atrophy 14	Optic disc pallor	OMIM:620550
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Cerebellar...	OMIM:615268
Mitochondrial Complex I Deficiency, Nuclear Type 1	Babinski sign, Concentric hypertrophic cardiomyopathy, Ragged-red muscle fibers, Sensorineural he...	OMIM:252010
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Constriction of peripheral visual field, Patchy atrophy of the retinal pigment epithelium, Progre...	ORPHA:436245
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Muscular dystrophy, Aplasia of the inferior half of the cerebellar vermis, Retinal...	OMIM:613154
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebral atrophy, Difficulty walking, Limb hypertonia, Abnormal circulating enzyme concentration ...	ORPHA:572798
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Dyschromatopsia, Sensorineural hearing impairment, Positive Romberg sign, Cerebellar atrophy, Car...	OMIM:258450
Barth Syndrome	Dilated cardiomyopathy, Endocardial fibroelastosis, Abnormal mitochondrial morphology	ORPHA:111
Combined Oxidative Phosphorylation Deficiency 19	Elevated circulating alanine aminotransferase concentration, Increased variability in muscle fibe...	OMIM:615595
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Dyschromatopsia, Lower limb amyotrophy, Fasciculations, Cerebellar atrophy, Upper limb muscle wea...	ORPHA:466768
Autosomal Recessive Spastic Paraplegia Type 11	Generalized limb muscle atrophy, Abnormality of pattern visual evoked potentials, Orthostatic hyp...	ORPHA:2822
Dandy-Walker Syndrome	Hydrocephalus, Truncal ataxia, Dilated fourth ventricle, Partial absence of cerebellar vermis, Ag...	OMIM:220200
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication	OMIM:610297
Ceroid Lipofuscinosis, Neuronal, 5	Abnormal nervous system electrophysiology, Dysdiadochokinesis, Cerebellar atrophy, Cerebral corti...	OMIM:256731
Parkinson Disease 15, Autosomal Recessive Early-Onset	Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m...	OMIM:260300
Pelizaeus-Merzbacher Disease	Optic atrophy, Spasticity, Gait disturbance, Cerebral cortical atrophy, Hearing impairment, Abnor...	ORPHA:702
Autosomal Recessive Spastic Paraplegia Type 32	Babinski sign, Difficulty walking, Cerebellar cortical atrophy, Impaired vibration sensation in t...	ORPHA:171622
Mitochondrial Complex I Deficiency, Nuclear Type 26	Cerebral atrophy, Limb hypertonia, Distal amyotrophy, Decreased activity of mitochondrial complex...	OMIM:618247
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Retinal dysplasia, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Ataxia, Partial agenes...	OMIM:615771
Peho Syndrome	Optic atrophy, Hypsarrhythmia, Neuronal loss in central nervous system, Undetectable visual evoke...	OMIM:260565
Progressive Myoclonic Epilepsy With Dystonia	Optic atrophy, Abnormality of extrapyramidal motor function, EEG with irregular generalized spike...	ORPHA:352596
Glaucoma 1, Open Angle, F	Increased cup-to-disc ratio	OMIM:603383
Spinocerebellar Ataxia 18	Babinski sign, Sensory axonal neuropathy, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Limb mu...	OMIM:607458
Usher Syndrome, Type 1M	Drusen, Optic disc pallor	OMIM:618632
Charcot-Marie-Tooth Disease Type 1F	Fasciculations, Optic nerve hypoplasia, Sensorineural hearing impairment, Positive Romberg sign, ...	ORPHA:101085
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy	OMIM:617879
Spinocerebellar Ataxia 23	Limb ataxia, Babinski sign, Impaired distal proprioception, Impaired vibration sensation in the l...	OMIM:610245
Adams-Oliver Syndrome 2	Cerebral atrophy, Optic atrophy, Limb hypertonia, Hydrocephalus, Low-set ears, Retrocerebellar cy...	OMIM:614219
Spastic Paraplegia 30, Autosomal Dominant	Spastic gait, Babinski sign, Lower limb spasticity, Lower limb amyotrophy, Peripheral axonal neur...	OMIM:610357
Epilepsy, Progressive Myoclonic, 11	Cerebellar vermis hypoplasia, Cerebellar atrophy, Intention tremor, Rigidity, Ataxia, Giant somat...	OMIM:618876
Dna2-Related Mitochondrial Dna Deletion Syndrome	Decreased mitochondrial number, Difficulty walking, Gait disturbance, Limb-girdle muscle weakness...	ORPHA:352470
Spastic Paraplegia 7, Autosomal Recessive	Optic atrophy, Spastic gait, Babinski sign, Lower limb spasticity, Dysdiadochokinesis, Impaired v...	OMIM:607259
Poretti-Boltshauser Syndrome	Retinal thinning, Cerebellar cyst, Retinal dystrophy, Oculomotor apraxia, Cerebellar vermis hypop...	OMIM:615960
Wolfram-Like Syndrome, Autosomal Dominant	Optic atrophy, Optic disc pallor	OMIM:614296
Spinocerebellar Ataxia 25	Babinski sign, Oculomotor apraxia, Impaired pain sensation, Abolished vibration sense, Cerebellar...	OMIM:608703
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Peripheral hypomyelination, Abnormal cranial nerve morphology, Distal amyotrophy, Upper limb musc...	OMIM:605253
Dystonia 11, Myoclonic	Tremor, Myoclonus, Torticollis, Writer's cramp	OMIM:159900
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Acute rhabdomyolysis, Peripheral hypomyelination, Flexion contracture of toe, Chorea, Finger join...	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	Retinopathy, Gliosis	OMIM:615119
Retinitis Pigmentosa 78	Cystoid macular edema, Optic disc pallor	OMIM:617433
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold	OMIM:617572
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Distal sensory impairment, Distal amyotrophy, Upper limb muscle weakness, Axonal degeneration/reg...	OMIM:607791
Microphthalmia, Isolated 5	Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ...	OMIM:611040
Glycosylphosphatidylinositol Biosynthesis Defect 15	Optic atrophy, Inability to walk, Apraxia, Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, M...	OMIM:617810
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Optic disc pallor	OMIM:604393
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus	OMIM:616187
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Oculomotor apraxia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Poor motor...	ORPHA:1170
Spinocerebellar Ataxia 41	Cerebellar vermis atrophy, Cerebellar atrophy, Gait ataxia, Unsteady gait, Ataxia	OMIM:616410
Spinal Muscular Atrophy, Jokela Type	Fasciculations, Tremor, Distal sensory impairment	OMIM:615048
Congenital Muscular Dystrophy Without Intellectual Disability	Tip-toe gait, Muscular dystrophy, Cerebellar cyst, Fatty replacement of skeletal muscle, Difficul...	ORPHA:370980
Slc35A2-Cdg	Cerebral atrophy, Elevated circulating hepatic transaminase concentration, Inability to walk, Hyp...	ORPHA:356961
Metachromatic Leukodystrophy, Late Infantile Form	Optic atrophy, Babinski sign, Tip-toe gait, Decreased nerve conduction velocity, Decerebrate rigi...	ORPHA:309256
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Spastic dysarthria, Oculomotor ...	ORPHA:363429
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Babinski sign, Decreased nerve conduction velocity, Spastic tetraparesis, Gait ataxia, CNS demyel...	OMIM:249900
Machado-Joseph Disease Type 1	Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Degeneration of the ...	ORPHA:276238
Machado-Joseph Disease Type 2	Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Degeneration of the ...	ORPHA:276241
Retinal Dystrophy And Obesity	Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Peripa...	OMIM:616188
Retinitis Pigmentosa 1	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Scotoma, Undete...	OMIM:180100
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Ankle flexion contracture, Hypertonia, EEG with polyspike wave complexes, Cerebellar vermis hypop...	ORPHA:284417
Macular Dystrophy With Central Cone Involvement	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Optic disc pallor, Bull's eye maculo...	OMIM:616170
Central Retinal Vein Occlusion	Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,...	ORPHA:411527
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Babinski sign, Abnormality of extrapyramidal motor function, Neuronal loss in central nervous sys...	OMIM:615362
Exudative Vitreoretinopathy 3	Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Amyotrophic Lateral Sclerosis 4, Juvenile	Babinski sign, Difficulty walking, Decreased compound muscle action potential amplitude, Axonal d...	OMIM:602433
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Optic atrophy, Difficulty walking, Visual loss, Peripheral axonal neuropathy, Cerebellar atrophy,...	OMIM:619425
Ataxia-Telangiectasia-Like Disorder	Oculomotor apraxia, Cerebellar vermis hypoplasia, Chorea, Dysdiadochokinesis, Cerebellar atrophy,...	ORPHA:251347
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Steppage gait, Distal sensory impairment, Distal amyotrophy, Decreased number of large peripheral...	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	Dysdiadochokinesis, Cerebellar atrophy, Cerebral palsy, Broad-based gait	OMIM:605388
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency	Limb ataxia, Difficulty walking, Cerebellar vermis atrophy, Brain atrophy, Truncal ataxia	ORPHA:363432
Leukodystrophy, Hypomyelinating, 18	Babinski sign, Decreased nerve conduction velocity, Atrophy/Degeneration affecting the brainstem,...	OMIM:618404
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri...	OMIM:607688
Retinitis Pigmentosa 86	Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund...	OMIM:618613
Migraine, Familial Hemiplegic, 1	Tremor, Cerebellar atrophy, Hemiparesis, Ataxia, Hemiplegia, Transient unilateral blurring of vision	OMIM:141500
Folinic Acid-Responsive Seizures	Optic atrophy, Frontotemporal cerebral atrophy, Hypertonia, Difficulty walking, Broad-based gait,...	ORPHA:79097
Charcot-Marie-Tooth Disease, Type 4B3	Distal lower limb muscle weakness, Decreased nerve conduction velocity, Distal sensory impairment...	OMIM:615284
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Papilledema, Retinal arteriolar constriction	OMIM:124950
Multiple Mitochondrial Dysfunctions Syndrome 6	Optic atrophy, Visual loss, Inability to walk, Atrophy/Degeneration affecting the brainstem, Spas...	OMIM:617954
Spastic Ataxia 2, Autosomal Recessive	Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head...	OMIM:611302
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Optic atrophy	ORPHA:1538
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Distal lower limb muscle weakness, Dysesthesia, Unsteady gait, Acute demyelinating polyneuropathy...	ORPHA:98916
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Dystonia, Frequent falls, Myoclonus	OMIM:619647
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebral atrophy, Macular coloboma, Undetectable electroretinogram, Geographic atrophy, High myop...	OMIM:619260
Pontocerebellar Hypoplasia, Type 12	Cerebral atrophy, Cerebellar hypoplasia, Joint contracture, Lateral ventricle dilatation	OMIM:618266
Asparagine Synthetase Deficiency	Optic nerve hypoplasia, Cerebral visual impairment, Ventriculomegaly, Hypertonia, Cerebellar verm...	OMIM:615574
Primary Non-Essential Cutis Verticis Gyrata	Abnormality of pattern visual evoked potentials, Reduced visual acuity	ORPHA:357225
Neuromyelitis Optica Spectrum Disorder	Visual loss, Paraplegia, Neuronal loss in central nervous system, Optic neuritis, Somatic sensory...	ORPHA:71211
Autosomal Recessive Spastic Paraplegia Type 57	Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:431329
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Cerebellar vermis hypoplasia, Dandy-Walker malformation, Undetectable visual evoked potentials, H...	ORPHA:163961
Spinocerebellar Ataxia, Autosomal Recessive 18	Babinski sign, Oculomotor apraxia, Cerebellar vermis atrophy, Incoordination, Truncal ataxia, Cer...	OMIM:616204
Spinocerebellar Ataxia 12	Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Action tremor, Pa...	OMIM:604326
Martsolf Syndrome 2	Brain atrophy, Camptodactyly, Camptodactyly of finger, Macrotia, Lateral ventricle dilatation, Sp...	OMIM:619420
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Distal sensory impairment, Sen...	OMIM:612674
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Decreased nerve conduction velocity, Axonal degeneration, Distal amyotrophy, Diaphragmatic paraly...	OMIM:604320
Alg13-Cdg	Hypsarrhythmia, Abnormal lateral ventricle morphology, Global brain atrophy, Clumsiness	ORPHA:324422
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Tremor	OMIM:611808
Hemiparkinsonism-Hemiatrophy Syndrome	Bradykinesia, Difficulty walking, Brain atrophy, Tremor, Hemiparesis, Parkinsonism, Cerebral cort...	ORPHA:306669
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru...	OMIM:600059
Striatal Degeneration, Autosomal Dominant 1	Bradykinesia, Dysdiadochokinesis, Tremor, Rigidity, Slurred speech	OMIM:609161
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Retinal thinning, Optic disc pallor	OMIM:618970
Cone-Rod Dystrophy, X-Linked, 3	Color vision defect, Photophobia, Central scotoma, Retinal detachment, Abnormality of macular pig...	OMIM:300476
Coenzyme Q10 Deficiency, Primary, 8	Hearing impairment, Flexion contracture, Visual impairment, Left ventricular hypertrophy, Elevate...	OMIM:616733
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Hypertonia, Hypsarrhythmia, Optic nerve hypoplasia, Spasticity, Lateral ventricle dilatation	OMIM:618890
Pontocerebellar Hypoplasia, Type 6	Cerebral atrophy, Lower limb spasticity, Appendicular spasticity, Cerebellar vermis hypoplasia, A...	OMIM:611523
Spinocerebellar Ataxia Type 37	Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cogwheel rigidity, Limb dysmetria, Somatic...	ORPHA:363710
Lichtenstein-Knorr Syndrome	Limb ataxia, Vestibular hypofunction, Cerebellar vermis atrophy, Sensorineural hearing impairment...	OMIM:616291
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Limb hypertonia, Photophobia, High myopia, Brain atrophy, Abnormality of visual evoked potentials...	OMIM:614457
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
X-Linked Progressive Cerebellar Ataxia	Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Cerebellar vermis ...	ORPHA:1175
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Peripheral hypomyelination, Cerebral dysmyelination, Short-segment aganglionic megacolon, Sensori...	OMIM:609136
Developmental And Epileptic Encephalopathy 3	Cerebral atrophy, Brain atrophy, Spasticity, Delayed myelination, Abnormality of visual evoked po...	OMIM:609304
Spastic Paraplegia 82, Autosomal Recessive	Optic atrophy	OMIM:618770
Hemimegalencephaly	Optic atrophy, Gliosis, Abnormal neuron morphology	ORPHA:99802
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Gliosis, Amyotrophic lateral sclerosis, Axonal loss	OMIM:300857
Dandy-Walker Malformation With Postaxial Polydactyly	Hydrocephalus, Dandy-Walker malformation, Chorioretinal atrophy, Truncal ataxia, Low-set ears, Di...	OMIM:220220
Spinocerebellar Ataxia Type 14	Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus, Somatic sen...	ORPHA:98763
Intellectual Developmental Disorder, X-Linked, Syndromic, Gustavson Type	Optic atrophy	OMIM:309555
Pontocerebellar Hypoplasia, Type 2D	Cerebral atrophy, Appendicular spasticity, Cerebellar vermis atrophy, Chorea, Cerebellar atrophy,...	OMIM:613811
Metachromatic Leukodystrophy, Juvenile Form	Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Decerebrate rigidity, Spastici...	ORPHA:309263
X-Linked Spinocerebellar Ataxia Type 3	Optic atrophy	ORPHA:85297
Spinocerebellar Ataxia, Autosomal Recessive 24	Spastic gait, Limb ataxia, Cerebellar atrophy, Gait ataxia	OMIM:617133
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Cerebral atrophy, Optic nerve dysplasia, Spastic gait, Tip-toe gait, Limb hypertonia, Hypermetrop...	OMIM:617296
Leukodystrophy, Hypomyelinating, 15	Cerebral atrophy, Optic atrophy, Visual loss, Hypermetropia, Progressive visual loss, Sensorineur...	OMIM:617951
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2	Optic atrophy, Inability to walk, Hypsarrhythmia, Spasticity, Cerebellar atrophy, Visual impairme...	OMIM:617086
Adult Neuronal Ceroid Lipofuscinosis	Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign...	ORPHA:79262
Deafness, Autosomal Recessive 104	Positive Romberg sign, Prelingual sensorineural hearing impairment, Abnormal vestibular function,...	OMIM:616515
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Gait ataxia, ...	OMIM:617862
Tremor, Hereditary Essential, 2	Upper limb postural tremor, Kinetic tremor	OMIM:602134
De Sanctis-Cacchione Syndrome	Cerebral atrophy, Optic atrophy, Global brain atrophy, Defective DNA repair after ultraviolet rad...	OMIM:278800
Lethal Congenital Contracture Syndrome 8	Peripheral hypomyelination, Distal sensory impairment, Distal amyotrophy, Facial diplegia, Vocal ...	OMIM:616287
Mitochondrial Phosphate Carrier Deficiency	Abnormal mitochondrial shape, Hypertrophic cardiomyopathy	OMIM:610773
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Macular coloboma, Babinski sign, Limb hypertonia, Retinal dystrophy, Sensorineural hearing impair...	ORPHA:423479
Cerebellar Ataxia, Cayman Type	Hypomimic face, Bradykinesia, Broad-based gait, Truncal ataxia, Cerebellar atrophy, Gait ataxia, ...	OMIM:601238
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Tip-toe gait, Hypertonia, Tetraparesis, Unsteady gait, Decreased number of peripheral myelinated ...	ORPHA:2386
Spinocerebellar Ataxia 45	Limb ataxia, Cerebellar atrophy, Gait ataxia	OMIM:617769
Spinocerebellar Ataxia, Autosomal Recessive 16	Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Ankle clonus	OMIM:615768
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Spastic tetraparesis, Cerebral cortical atrophy, Lateral ventricle dilatation, Delayed CNS myelin...	OMIM:617668
Spinocerebellar Ataxia, Autosomal Recessive 8	Optic atrophy, Limb ataxia, Abnormality of extrapyramidal motor function, Peripheral axonal neuro...	OMIM:610743
Spinocerebellar Ataxia, Autosomal Recessive 33	Broad-based gait, Truncal ataxia, Frequent falls, Gait ataxia, Dilated fourth ventricle, Intentio...	OMIM:620208
White-Sutton Syndrome	Cerebral atrophy, Congenital diaphragmatic hernia, Hypermetropia, Facial hypotonia, Optic nerve h...	OMIM:616364
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Optic atrophy, Babinski sign, Hypertonia, Steppage gait, Scotoma, Distal sensory impairment, Peri...	OMIM:616505
Spastic Paraplegia 6, Autosomal Dominant	Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim...	OMIM:600363
Mitochondrial Dna Depletion Syndrome 18	Axonal degeneration, Falls, Tongue fasciculations, Distal amyotrophy, Clonus, Hand muscle atrophy...	OMIM:618811
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebral atrophy, Optic atrophy, Cerebellar atrophy, Optic disc pallor, Hypoplasia of the pons, R...	OMIM:616171
Dystonia With Cerebellar Atrophy	Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia	OMIM:611694
Spastic Paraplegia 46, Autosomal Recessive	Cerebral atrophy, Spastic gait, Babinski sign, Lower limb spasticity, Ankle clonus, Upper limb dy...	OMIM:614409
Retinitis Pigmentosa 12	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:600105
Spinocerebellar Ataxia Type 30	Limb ataxia, Cerebellar vermis atrophy, Gait ataxia	ORPHA:211017
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Demyelinating motor neuropathy, Babinski sign, Difficulty walking, Broad-based gait, Ragged-red m...	OMIM:616479
Spinocerebellar Ataxia Type 5	Incoordination, Gait disturbance, Cerebellar atrophy, Slurred speech	ORPHA:98766
Retinitis Pigmentosa 46	Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy	OMIM:612572
Spinocerebellar Ataxia Type 28	Limb ataxia, Babinski sign, Spasticity, Limb dystonia, Gait ataxia, Head tremor, Rigidity, Dyston...	ORPHA:101109
Congenital Disorder Of Glycosylation, Type Iiz	Clonus, Limb joint contracture, Diffuse cerebellar atrophy, Appendicular spasticity	OMIM:620201
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Cerebral atrophy, Hypertonia, Cerebellar atrophy, Spastic tetraplegia, Ventriculomegaly	OMIM:618730
Amyotrophy, Hereditary Neuralgic	Axonal degeneration, Low-set ears, Brachial plexus neuropathy, Skeletal muscle atrophy, Periphera...	OMIM:162100
Microlissencephaly	Hypertonia, Cerebral dysmyelination, Cerebellar atrophy, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:1083
Peroxisome Biogenesis Disorder 6B	Decreased liver function, Limb ataxia, Distal sensory impairment, Retinal dystrophy, Sensorineura...	OMIM:614871
Spinocerebellar Ataxia 35	Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Cerebell...	OMIM:613908
Metachromatic Leukodystrophy, Adult Form	Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Difficulty walking, Chorea, De...	ORPHA:309271
Cog5-Cdg	Elevated circulating hepatic transaminase concentration, Atrophy/Degeneration affecting the brain...	ORPHA:263487
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b...	OMIM:604116
Spinocerebellar Ataxia, Autosomal Recessive 32	Hypomimic face, Bradykinesia, Limb ataxia, Abnormal nerve conduction velocity, Torticollis, Atrop...	OMIM:619862
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy	Spastic tetraparesis, Brain atrophy, Sensorineural hearing impairment, Cerebellar atrophy	OMIM:618741
Striatonigral Degeneration, Infantile	Optic atrophy	OMIM:271930
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Multiple Sulfatase Deficiency	Cerebral atrophy, Hydrocephalus, Spasticity, Cerebellar atrophy, Hearing impairment, CNS demyelin...	OMIM:272200
Polymicrogyria Due To Tubb2B Mutation	Oromotor apraxia, Cerebellar atrophy, Hypoplasia of the pons, Hemianopia, Hemiparesis, Agenesis o...	ORPHA:300573
Hypotonia, Infantile, With Psychomotor Retardation	Increased variability in muscle fiber diameter, Ventricular septal defect, Myopathy, Lateral vent...	OMIM:616816
Dystonia 23	Torticollis, Writer's cramp, Axial dystonia, Limb dystonia, Head tremor, Myoclonus	OMIM:614860
X-Linked Non Progressive Cerebellar Ataxia	Spastic dysarthria, Truncal ataxia, Frequent falls, Intention tremor, Action tremor, Nonprogressi...	ORPHA:314978
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Inability to wa...	OMIM:218000
Hyperphenylalaninemia, Bh4-Deficient, D	Hypertonia, Tremor	OMIM:264070
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebral atrophy, Optic atrophy, Hypertonia, Limb hypertonia, Tremor, Cerebellar atrophy, Cardiom...	OMIM:617710
Corticobasal Syndrome	Bradykinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigidity, Tremo...	ORPHA:454887
Leukodystrophy, Hypomyelinating, 5	Babinski sign, Delayed brainstem auditory evoked response conduction time, Truncal titubation, Lo...	OMIM:610532
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Optic atrophy, Babinski sign, Difficulty walking, Lower limb spasticity, Atrophy/Degeneration aff...	OMIM:612319
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Ataxia, Cerebellar atrophy, Inability to walk	OMIM:619333
Amyotrophic Lateral Sclerosis 3	Cerebellar atrophy, Lower limb muscle weakness	OMIM:606640
Epilepsy, Progressive Myoclonic, 8	Limb ataxia, Falls, Truncal ataxia, Atrophy/Degeneration affecting the brainstem, Cerebellar atro...	OMIM:616230
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Cerebral atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Clumsiness,...	OMIM:610003
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Failure to thrive, Tremor, Dystonia, Myoclonus	OMIM:619651
Congenital Hydrocephalus	Optic atrophy, Hydrocephalus, Sensorineural hearing impairment, Abnormal heart morphology, Poster...	ORPHA:2185
Retinitis Pigmentosa 49	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613756
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Fasciculations, Tremor	OMIM:182980
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Micro Syndrome	Optic atrophy, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Spasticity, Cereb...	ORPHA:2510
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis	OMIM:615924
Camos Syndrome	Optic atrophy	ORPHA:83472
Mucolipidosis Iv	Optic atrophy, Dysplastic corpus callosum, Babinski sign, Cerebral dysmyelination, Photophobia, C...	OMIM:252650
Progressive Myoclonic Epilepsy Type 3	Cerebral atrophy, Optic atrophy, Focal EEG discharges with secondary generalization, Progressive ...	ORPHA:263516
Spinocerebellar Ataxia Type 12	Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Intention tremor, Action t...	ORPHA:98762
Spinocerebellar Ataxia Type 35	Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Cereb...	ORPHA:276193
Mitochondrial Dna Depletion Syndrome 17	Cerebral atrophy, Hemiballismus, Chorea, Decreased activity of mitochondrial complex I, Cerebella...	OMIM:618567
Autosomal Recessive Spastic Paraplegia Type 35	Optic atrophy, Babinski sign, Pontocerebellar atrophy, Difficulty walking, Oculomotor apraxia, Lo...	ORPHA:171629
Spinocerebellar Ataxia 48	Babinski sign, Cachexia, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia, Parkinsonism, Dysmetria	OMIM:618093
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Global brain atrophy, Aplasia of the inferior half of the cerebellar vermis, Atrophy of the denta...	OMIM:610185
Cockayne Syndrome A	Sensorineural hearing impairment, Abnormal pinna morphology, Retinal atrophy, Cerebellar atrophy,...	OMIM:216400
Spastic Ataxia-Corneal Dystrophy Syndrome	Optic atrophy	ORPHA:2572
Spastic Paraplegia With Neuropathy And Poikiloderma	Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Distal amyotrophy, Spastic para...	OMIM:182815
Autosomal Dominant Optic Atrophy, Classic Form	Optic atrophy, Color vision defect, Weakness of facial musculature, Central scotoma, Temporal opt...	ORPHA:98673
Urocanase Deficiency	Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria	OMIM:276880
Preeclampsia/Eclampsia 1	Intrauterine growth retardation, Edema	OMIM:189800
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Abnormal dentate nucleus morphology, Spasticity, Lateral ventricle dilatation, Delayed CNS myelin...	OMIM:619517
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Optic atrophy, Babinski sign, Hyperkinetic movements, Cerebellar vermis hypoplasia, Alpha-aminoad...	OMIM:620089
Leber Congenital Amaurosis 14	Undetectable electroretinogram, Photophobia, Retinal dystrophy, Decreased light- and dark-adapted...	OMIM:613341
Spastic Paraplegia 78, Autosomal Recessive	Bradykinesia, Babinski sign, Distal sensory impairment, Falls, Resting tremor, Peripheral axonal ...	OMIM:617225
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Visual loss, Oculomotor apraxia, Optic nerve hypoplasia, Sensorineural hearing impairment, Abnorm...	ORPHA:300570
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebral atrophy, Hypomimic face, Babinski sign, Bradykinesia, Apraxia, Falls, Spasticity, Cerebe...	OMIM:300423
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Decreased mitochondrial number, Ragged-red muscle fibers, Cerebellar atrophy, Generalized amyotro...	ORPHA:352447
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Optic atrophy, Generalized limb muscle atrophy, Distal lower limb muscle weakness, Progressive ce...	ORPHA:466794
Mpdu1-Cdg	Optic atrophy, Hypertonia, Absence of acoustic reflex, Abnormal circulating enzyme concentration ...	ORPHA:79323
Retinitis Pigmentosa 58	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:613617
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Limb ataxia, Progressive cerebellar ataxia, Abnormal circulating enzyme concentration or activity...	ORPHA:284289
Congenital Disorder Of Glycosylation, Type Iibb	Cerebellar vermis hypoplasia, Spasticity, Tremor, Cerebellar atrophy, Low-set ears, Macrotia, Del...	OMIM:620546
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Skeletal muscle hypertrophy, Peripheral axonal neuropathy, H...	ORPHA:101082
Peho-Like Syndrome	Optic atrophy, Hypsarrhythmia, Cerebellar atrophy, Myoclonus, Ventriculomegaly	OMIM:617507
Pontocerebellar Hypoplasia, Type 13	Decreased liver function, Inability to walk, Cerebellar vermis hypoplasia, Dandy-Walker malformat...	OMIM:618606
Prune1-Related Neurological Syndrome	Cerebral atrophy, Optic atrophy, Inability to walk, Tongue fasciculations, Cerebellar atrophy, Ce...	ORPHA:544469
Paraparetic Variant Of Guillain-Barré Syndrome	Impaired distal proprioception, Peripheral axonal neuropathy, Peripheral demyelination, Paraparesis	ORPHA:231445
Lissencephaly 4	Babinski sign, Hypertonia, Colpocephaly, Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:614019
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Optic atrophy, Babinski sign, Limb ataxia, Clumsiness, Truncal ataxia, Dysesthesia, Cerebellar at...	OMIM:619259
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Tremor, Ataxia, Small for gestational age	OMIM:278780
Oculocutaneous Albinism Type 1A	Photophobia, Abnormal optic nerve morphology, Abnormality of visual evoked potentials, Hypoplasia...	ORPHA:79431
Spastic Ataxia 5, Autosomal Recessive	Oculomotor apraxia, Distal amyotrophy, Spasticity, Cerebellar atrophy, Myoclonus, Dysdiadochokine...	OMIM:614487
Retinitis Pigmentosa 41	Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio...	OMIM:612095
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Congenital diaphragmatic hernia, Retinal telangiectasia, Photophobia, Cerebellar atrophy, Gait at...	ORPHA:438134
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Absent foveal reflex, Pi...	OMIM:204100
Autosomal Recessive Spastic Paraplegia Type 66	Spastic gait, Difficulty walking, Limb hypertonia, Lower limb spasticity, Lower limb amyotrophy, ...	ORPHA:401815
Mast Syndrome	Cerebral atrophy, Babinski sign, Hypertonia, Apraxia, Incoordination, Dysdiadochokinesis, Athetos...	OMIM:248900
Spinocerebellar Ataxia 30	Cerebellar atrophy, Ataxia	OMIM:613371
Intellectual Developmental Disorder, Autosomal Dominant 48	Dysgenesis of the cerebellar vermis, Recurrent otitis media, Cerebellar vermis hypoplasia, Sensor...	OMIM:617751
Childhood-Onset Spasticity With Hyperglycinemia	Optic atrophy, Babinski sign, Hypertonia, Spastic dysarthria, Loss of ability to walk in early ch...	ORPHA:401866
Leukoencephalopathy With Vanishing White Matter 1	Optic atrophy, Gliosis	OMIM:603896
Infantile Cerebellar-Retinal Degeneration	Optic atrophy, Retinal dystrophy, Sensorineural hearing impairment, Demyelinating peripheral neur...	OMIM:614559
Leukodystrophy, Hypomyelinating, 14	Cerebral atrophy, Spasticity, Cerebellar atrophy, Hearing impairment, Blindness	OMIM:617899
Mitochondrial Complex I Deficiency, Nuclear Type 28	Optic atrophy, Akinesia, Lower limb spasticity, Truncal ataxia, Decreased activity of mitochondri...	OMIM:618249
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal pyramidal sign, Leukodystrophy, Abnormal autonomic nervous system physiology, Peripheral...	DECIPHER:59
Combined Oxidative Phosphorylation Deficiency 27	Cerebral atrophy, Global brain atrophy, Chorea, Decreased activity of mitochondrial complex I, Ce...	OMIM:616672
Merrf	Optic atrophy	ORPHA:551
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Chorioretinal dysplas...	OMIM:251270
Lower Motor Neuron Syndrome With Late-Adult Onset	Increased intramuscular fat, Fasciculations, Tongue fasciculations, Tremor, Impaired distal vibra...	ORPHA:276435
Atypical Pantothenate Kinase-Associated Neurodegeneration	Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Limb dystonia...	ORPHA:216873
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Cerebellar ve...	ORPHA:284332
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Cerebral atrophy, Babinski sign, Global brain atrophy, Atrophy/Degeneration affecting the brainst...	OMIM:615838
Mitochondrial Dna Depletion Syndrome 11	Ragged-red muscle fibers, Decreased activity of mitochondrial complex I, Facial palsy, Cerebellar...	OMIM:615084
Cavitary Optic Disc Anomalies	Peripapillary atrophy	OMIM:611543
Retinitis Pigmentosa 10	Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ...	OMIM:180105
Spinocerebellar Ataxia Type 41	Cerebellar vermis atrophy, Gait ataxia	ORPHA:458798
Lymphatic Malformation 11	Lymphedema, Pedal edema	OMIM:619401
Nanophthalmos 4	Optic disc drusen	OMIM:615972
Developmental And Epileptic Encephalopathy 47	Multifocal epileptiform discharges, Limb ataxia, Inability to walk, Hypsarrhythmia, Cerebellar at...	OMIM:617166
Tangier Disease	Impaired temperature sensation, Impaired pain sensation, Peripheral axonal neuropathy, Distal amy...	OMIM:205400
Mitochondrial Complex I Deficiency, Nuclear Type 5	Optic atrophy, Babinski sign, Brain atrophy, Decreased activity of mitochondrial complex I, Cereb...	OMIM:618226
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Tip-toe gait, Muscular dystrophy, Cerebellar cyst, Difficulty walking, Calf muscle hypertrophy, F...	OMIM:606612
Combined Oxidative Phosphorylation Deficiency 58	Optic atrophy, Difficulty walking, Visual loss, Appendicular spasticity, Ragged-red muscle fibers...	OMIM:620451
Dystonia 13, Torsion, Autosomal Dominant	Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim...	OMIM:607671
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre...	ORPHA:891
Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction	Cerebral atrophy, Spasticity, Spastic tetraparesis, Cerebellar atrophy, Gait disturbance	OMIM:620515
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ...	ORPHA:521406
Leber Congenital Amaurosis 9	Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin...	OMIM:608553
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Cerebral atrophy, Babinski sign, Positive Romberg sign, Spasticity, Cerebellar atrophy, Corpus ca...	OMIM:618088
Primary Dystonia, Dyt2 Type	Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involuntary movements, Gener...	ORPHA:99657
Mitochondrial Complex I Deficiency, Nuclear Type 29	Mitochondrial swelling, Decreased activity of mitochondrial complex I, Abnormal heart morphology,...	OMIM:618250
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Steppage gait, Distal sensory impairment, Claw hand deformity, Sensorineural hearing impairment, ...	OMIM:614455
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased sensory nerve conduction velocity, Elevated circulating hepatic transaminase concentrat...	ORPHA:298
Spinocerebellar Ataxia, X-Linked 1	Abnormality of extrapyramidal motor function, Ataxia, Action tremor, Intention tremor	OMIM:302500
Lethal Congenital Contracture Syndrome 7	Cerebral atrophy, Facial diplegia, Cerebellar atrophy, Skeletal muscle atrophy, Distal arthrogryp...	OMIM:616286
Cerebellar Atrophy, Developmental Delay, And Seizures	EEG abnormality, Cerebellar atrophy	OMIM:617643
Alg2-Cdg	Hypsarrhythmia, Cerebral hypomyelination, Lateral ventricle dilatation, Abnormal circulating enzy...	ORPHA:79326
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor	OMIM:615973
Autosomal Recessive Cutis Laxa Type 2A	Dysplastic corpus callosum, Inability to walk, High myopia, Dandy-Walker malformation, Cerebellar...	ORPHA:357058
Lissencephaly Due To Tuba1A Mutation	Dysplastic corpus callosum, Aganglionic megacolon, Cerebellar vermis hypoplasia, Optic nerve hypo...	ORPHA:171680
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Obesity, Tremor, Ataxia, Limb dystonia	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, Difficulty walking, Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Ga...	ORPHA:529665
Intellectual Developmental Disorder, X-Linked 101	Optic atrophy	OMIM:300928
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Babinski sign, Spasticity, Symmetric peripheral demyelination, Autonomic erectile dysfunction, Co...	OMIM:169500
Combined Oxidative Phosphorylation Deficiency 39	Cerebral atrophy, Babinski sign, Hypsarrhythmia, Spasticity, Cerebellar atrophy, Congenital contr...	OMIM:618397
Neurodevelopmental Disorder With Involuntary Movements	Cerebral atrophy, Hyperkinetic movements, Atrophy/Degeneration affecting the brainstem, Chorea, S...	OMIM:617493
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Ataxia, Dysmetria	OMIM:617917
Progressive Supranuclear Palsy-Corticobasal Syndrome	Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w...	ORPHA:240103
Juvenile Neuronal Ceroid Lipofuscinosis	Large central visual field defect, Cerebral atrophy, Visual loss, Abnormal circulating enzyme con...	ORPHA:79264
Spasticity, Childhood-Onset, With Hyperglycinemia	Optic atrophy	OMIM:616859
Leigh Syndrome	Generalized aminoaciduria, Sensorineural hearing impairment, Chorea, Decreased activity of mitoch...	ORPHA:506
Spinocerebellar Ataxia 50	Apraxia, Cerebellar vermis atrophy, Diplopia, Chorea, Cerebellar atrophy, Head tremor, Hearing im...	OMIM:620158
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Muscular dystrophy, Inability to walk, Retinal dystrophy, Cerebellar vermis hypoplasia, Hydroceph...	OMIM:613155
Leukoencephalopathy With Vanishing White Matter 2	Optic atrophy	OMIM:620312
Retinitis Pigmentosa 25	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of retinal blood vess...	OMIM:602772
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Cerebral atrophy, Hyperkinetic movements, Inability to walk, Chorea, Spasticity, Cerebellar atrop...	OMIM:614254
Developmental And Epileptic Encephalopathy 58	Optic atrophy	OMIM:617830
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Inability to walk, Low-set ears, Dilated fourth ventricle, Lateral ventricle dilatation, Ventricu...	OMIM:613443
Dystonia 16	Bradykinesia, Torticollis, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Postural tremor	ORPHA:210571
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Dandy-Walker malformation, Optic nerve hypoplasia, Hypoplasia of the pons, Agenesis of corpus cal...	OMIM:618736
Unilateral Hemispheric Polymicrogyria	Hemiparesis, EEG with focal epileptiform discharges, Lateral ventricle dilatation	ORPHA:101071
Basal Ganglia Calcification, Idiopathic, 1	Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Rigidity, Dystonia, Parkinsonism, Li...	OMIM:213600
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials...	OMIM:609129
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Tremor, Vocal cord paralysis	OMIM:158580
Peroxisome Biogenesis Disorder 5B	Decreased liver function, Retinal dystrophy, Oculomotor apraxia, Sensorineural hearing impairment...	OMIM:614867
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebral atrophy, Optic atrophy, Babinski sign, Abnormality of mitochondrial metabolism, Resting ...	ORPHA:314404
Diabetes Insipidus, Neurohypophyseal	Gliosis	OMIM:125700
Spinocerebellar Ataxia 49	Babinski sign, Abnormality of extrapyramidal motor function, Sensory axonal neuropathy, Dysdiadoc...	OMIM:619806
Optic Atrophy 16	Temporal optic disc pallor	OMIM:620629
L-2-Hydroxyglutaric Aciduria	Optic atrophy, Gliosis	OMIM:236792
Charcot-Marie-Tooth Disease Type 4C	Sensorineural hearing impairment, Tongue fasciculations, Positive Romberg sign, Cerebellar atroph...	ORPHA:99949
Spastic Ataxia 9, Autosomal Recessive	Hoffmann sign, Babinski sign, Cerebellar vermis atrophy, Distal amyotrophy, Spasticity, Impaired ...	OMIM:618438
Sodium-Dependent Multivitamin Transporter Deficiency	Cerebral atrophy, Spasticity, Cerebellar atrophy, Cerebral palsy, Hypoplasia of the pons	OMIM:618973
Optic Atrophy 11	Optic nerve hypoplasia, Facial diplegia, Gait apraxia, Fiber type grouping, Ataxia, Delayed CNS m...	OMIM:617302
Leukodystrophy, Hypomyelinating, 12	Optic atrophy, Spasticity, Cerebellar atrophy, Cerebral visual impairment, Abnormal autonomic ner...	OMIM:616683
Slowed Nerve Conduction Velocity, Autosomal Dominant	Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination	OMIM:608236
Leigh Syndrome	Optic atrophy, Gliosis, Pigmentary retinopathy	OMIM:256000
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Cerebellar vermis hypoplasia, Abnormal pinna morphology, Arthrogryposis multiplex congenita, Cere...	OMIM:618291
Combined Oxidative Phosphorylation Deficiency 18	Increased mitochondrial number, Tremor, Decreased activity of mitochondrial complex I, Skeletal m...	OMIM:615578
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Optic atrophy, Unilateral facial palsy, Torticollis, Limb hypertonia, Cerebellar atrophy, Cerebra...	OMIM:618547
Spastic Paraplegia, Ataxia, And Mental Retardation	Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim...	OMIM:607565
Leukoencephalopathy With Vanishing White Matter 4	Optic atrophy	OMIM:620314
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Type 2 muscle fiber predominance, Tremor, Cerebellar atrophy, Ataxia, Myoc...	OMIM:619028
Leukodystrophy, Hypomyelinating, 11	Spasticity, Tremor, Failure to thrive, Ataxia, Myoclonus	OMIM:616494
Ceroid Lipofuscinosis, Neuronal, 10	Cerebral atrophy, Visual loss, Neuronal loss in central nervous system, Sensory axonal neuropathy...	OMIM:610127
Harel-Yoon Syndrome	Optic atrophy, Inability to walk, Peripheral axonal neuropathy, Distal amyotrophy, Spasticity, Ce...	OMIM:617183
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Cerebral atrophy, Hypsarrhythmia, Cerebellar atrophy, Myoclonus, Decreased activity of mitochondr...	OMIM:619060
X-Linked Parkinsonism-Spasticity Syndrome	Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Dilated third ventricle, C...	ORPHA:363654
Deafness, Dystonia, And Cerebral Hypomyelination	Cerebral atrophy, Optic atrophy, Sensorineural hearing impairment, Tetraplegia, Cerebellar atroph...	OMIM:300475
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Optic atrophy, Oromotor apraxia, Sensorineural hearing impairment, Spasticity, Cerebellar atrophy...	ORPHA:466934
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebral atrophy, Elevated circulating hepatic transaminase concentration, Type 2 muscle fiber pr...	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
Osteopetrosis, Autosomal Recessive 5	Cerebral atrophy, Optic atrophy, Hypertonia, Limb hypertonia, Hydrocephalus, Undetectable visual ...	OMIM:259720
Central Neurocytoma	Abnormal lateral ventricle morphology, Babinski sign, Hydrocephalus, Abnormality of vision, Tinni...	ORPHA:73256
Boucher-Neuhauser Syndrome	Spinocerebellar atrophy, Photophobia, Retinal dystrophy, Abnormal upper motor neuron morphology, ...	OMIM:215470
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Optic atrophy, Inability to walk, Cerebellar atrophy, Spastic tetraparesis, Clonus, Cerebral cort...	OMIM:617481
Lymphatic Malformation 8	Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ...	OMIM:618773
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Bradykinesia, Babinski sign, Increased mitochondrial number, Decreased activity of mitochondrial ...	OMIM:619063
Glutamine Deficiency, Congenital	Subependymal cysts, Brain atrophy, Low-set ears, Camptodactyly, Flexion contracture, Lateral vent...	OMIM:610015
Sandhoff Disease, Juvenile Form	Cerebral atrophy, Fasciculations, Incoordination, Abnormality of extrapyramidal motor function, C...	ORPHA:309162
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Optic atrophy	ORPHA:2787
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat...	ORPHA:314632
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Decreased circulating carnitine concentration, Decreased activity of NADPH oxidase, Cerebellar at...	ORPHA:431361
Leukodystrophy, Hypomyelinating, 21	Optic atrophy, Athetosis, Cerebellar atrophy, Corpus callosum atrophy, Ataxia, Tetraparesis	OMIM:619310
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormality of pattern visual evoked potentials, Chiari type I malformation, Low-set ears, Cerebr...	ORPHA:166035
Leukodystrophy, Hypomyelinating, 6	Optic atrophy, Oculomotor apraxia, Cerebral hypomyelination, Spasticity, Tremor, Cerebellar atrop...	OMIM:612438
Cherubism	Optic atrophy	ORPHA:184
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Cerebellar atrophy, Ataxia, Low alkaline phosphatase, Elevated circulating alkaline phosphatase c...	OMIM:618879
Spastic Paraplegia 45, Autosomal Recessive	Optic atrophy	OMIM:613162
Metachromatic Leukodystrophy	Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Chorea, Tetraplegia, Gait dist...	OMIM:250100
Combined Oxidative Phosphorylation Deficiency 45	Failure to thrive, Tremor, Ataxia	OMIM:618951
Leukodystrophy, Hypomyelinating, 17	Cerebral atrophy, Inability to walk, Hypsarrhythmia, Cerebellar atrophy, Flexion contracture, Leu...	OMIM:618006
Parkinsonism-Dystonia 1, Infantile-Onset	Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor...	OMIM:613135
Parkinson Disease 6, Autosomal Recessive Early-Onset	Bradykinesia, Resting tremor, Rigidity, Dystonia, Parkinsonism	OMIM:605909
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Optic atrophy, Babinski sign, Spasticity, Tremor, Cerebellar atrophy, Cerebral cortical atrophy, ...	OMIM:607694
Parkinson Disease 7, Autosomal Recessive Early-Onset	Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ...	OMIM:606324
Familial Or Sporadic Hemiplegic Migraine	Tongue fasciculations, Vertigo, Cerebellar atrophy, Hemiplegia, EEG abnormality, Scotoma, Hearing...	ORPHA:569
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia	Spastic gait, Babinski sign, Distal lower limb muscle weakness, Paroxysmal dyskinesia, Peripheral...	OMIM:620538
Distal Deletion 10Q	Protruding ear, Inferior cerebellar vermis hypoplasia, Oculomotor apraxia, Poor fine motor coordi...	ORPHA:96148
Malan Overgrowth Syndrome	Optic disc hypoplasia, Episodic ataxia, Lateral ventricle dilatation, Ventriculomegaly, Optic dis...	ORPHA:420179
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Optic atrophy, Peripheral axonal neuropathy	OMIM:620221
Juvenile Huntington Disease	Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Cerebellar vermis atrophy, Chorea,...	ORPHA:248111
Mesangial sclerosis, diffuse renal, with ocular abnormalities	Optic atrophy, Retinal arteriolar constriction	OMIM:249660
Pontocerebellar Hypoplasia, Type 3	Cerebral atrophy, Optic atrophy, Atrophy/Degeneration affecting the brainstem, Spasticity, Cerebe...	OMIM:608027
Dystonia 24	Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor, Limb tremor, Arm dystonia	OMIM:615034
Retinitis Pigmentosa 43	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:613810
Combined Oxidative Phosphorylation Defect Type 7	Optic atrophy, Difficulty walking, Distal sensory impairment, Inability to walk, Dyschromatopsia,...	ORPHA:254930
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased sensory nerve conduction velocity, Chronic axonal neuropathy, Distal sensory impairment...	OMIM:162400
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Distal sensory impairment, Distal amyotrophy, Axonal regeneration, Decreased number of peripheral...	OMIM:607831
Hyperphenylalaninemia, Bh4-Deficient, C	Hypertonia, Tremor, Dystonia, Myoclonus, Choreoathetosis	OMIM:261630
Spastic Paraplegia 50, Autosomal Recessive	Babinski sign, Limb hypertonia, Cerebellar atrophy, Cerebral palsy, Ataxia, Spastic tetraplegia, ...	OMIM:612936
Parkinson Disease 17	Bradykinesia, Resting tremor, Tremor, Rigidity, Parkinsonism	OMIM:614203
Spinocerebellar Ataxia 13	Optic atrophy, Limb ataxia, Progressive cerebellar ataxia, Limb dysmetria, Spasticity, Impaired d...	OMIM:605259
Dystonia 28, Childhood-Onset	Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial dystonia, Dyst...	OMIM:617284
Spinocerebellar Ataxia 46	Limb ataxia, Sensory axonal neuropathy, Positive Romberg sign, Cerebellar atrophy, Gait ataxia, D...	OMIM:617770
Band Heterotopia	Hydrocephalus, Spasticity, Agenesis of corpus callosum, Lateral ventricle dilatation, Ventriculom...	OMIM:600348
4H Leukodystrophy	Optic atrophy, Cerebral hypomyelination, Abnormality of extrapyramidal motor function, Dysdiadoch...	ORPHA:289494
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Erratic myoclonus, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Ataxia, Myoc...	OMIM:619971
Hsd10 Disease, Infantile Type	Frontotemporal cerebral atrophy, Cerebral atrophy, Optic atrophy, Hyperkinetic movements, Visual ...	ORPHA:391428
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Optic atrophy	ORPHA:1171
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Oculomotor apraxia, Retinal atrophy, Cerebellar atrophy, Corpus callosum atrophy, Rigidity, Impai...	ORPHA:412057
Christianson Syndrome	Neuronal loss in central nervous system, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Cerebra...	ORPHA:85278
Neurodevelopmental Disorder With Dystonia And Seizures	Chorea, Athetosis, Cerebellar atrophy, Cerebral cortical atrophy, Spastic tetraplegia, Cerebellar...	OMIM:619922
Leukodystrophy, Hypomyelinating, 13	Optic atrophy, Delayed brainstem auditory evoked response conduction time, Hypertonia, Lower limb...	OMIM:616881
Congenital Neuronal Ceroid Lipofuscinosis	Aplasia/Hypoplasia of the external ear, Abnormal circulating enzyme concentration or activity, Sp...	ORPHA:168486
Spinocerebellar Ataxia, Autosomal Recessive 22	Lower limb spasticity, Truncal ataxia, Cerebellar atrophy, Intention tremor, Ataxia, Unsteady gai...	OMIM:616948
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Dysgenesis of the cerebellar vermis, Visual loss, Low-set, posteriorly rotated ears, Elongated su...	ORPHA:397715
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Optic atrophy	OMIM:619052
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Optic atrophy, Brain atrophy, Tetraplegia, Cerebellar atrophy, Corpus callosum atrophy, Cerebral ...	ORPHA:369939
Global Developmental Delay With Or Without Impaired Intellectual Development	Poor fine motor coordination, Low-set ears, Lateral ventricle dilatation, Atrial septal defect, V...	OMIM:618330
Achalasia-Addisonianism-Alacrima Syndrome	Optic atrophy, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Short statu...	OMIM:231550
Spinocerebellar Ataxia 7	Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore...	OMIM:164500
Spinocerebellar Ataxia 14	Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Cerebellar atrophy, Facial...	OMIM:605361
Rapid-Onset Dystonia-Parkinsonism	Bradykinesia, Torticollis, Resting tremor, Craniofacial dystonia, Limb dystonia, Gait ataxia, Par...	ORPHA:71517
Cockayne Syndrome B	Cerebral atrophy, Optic atrophy, Normal pressure hydrocephalus, Decreased nerve conduction veloci...	OMIM:133540
Huntington Disease-Like 2	Bradykinesia, Chorea, Action tremor, Rigidity, Dystonia, Weight loss	OMIM:606438
Joubert Syndrome 6	Elongated superior cerebellar peduncle, Oculomotor apraxia, Cerebellar vermis hypoplasia, Dilated...	OMIM:610688
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Limb ataxia, Decreased distal sensory nerve action potential, Hearing abnormality, Impaired pain ...	OMIM:614575
Tay-Sachs Disease	Fasciculations, Incoordination, Decerebrate rigidity, Cerebellar atrophy, Quadriceps muscle atrop...	ORPHA:845
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Tremor, Myoclonus	OMIM:615400
Deafness, Autosomal Recessive 9	Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses	OMIM:601071
Adult-Onset Autosomal Dominant Leukodystrophy	Spastic gait, Atrophy/Degeneration affecting the brainstem, Sensorineural hearing impairment, Imp...	ORPHA:99027
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Muscular dystrophy, Pontocerebellar atrophy, Inability to walk, Myositis, Facial palsy, Cardiomyo...	ORPHA:258
Leg, Absence Deformity Of, With Congenital Cataract	Optic nerve dysplasia	OMIM:246000
Ruvalcaba Syndrome	Delayed puberty, Abnormality of visual evoked potentials, Intrauterine growth retardation, Abnorm...	ORPHA:3121
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Optic atrophy, Facial palsy	ORPHA:178377
Succinic Semialdehyde Dehydrogenase Deficiency	Decreased tissue succinic semialdehyde dehydrogenase activity, Hyperkinetic movements, Cerebellar...	OMIM:271980
Ravine Syndrome	Atrophy/Degeneration affecting the brainstem, Spasticity, Abnormal auditory evoked potentials, At...	ORPHA:99852
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Inferior cerebellar vermis hypoplasia, Broad-based gait, Cerebellar ataxia associated with quadru...	OMIM:224050
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral atrophy, Babinski sign, Hypertonia, Sensorineural hearing impairment, Spasticity, Cerebr...	OMIM:619847
Craniosynostosis 6	Dandy-Walker malformation, Sensorineural hearing impairment, Cerebellar atrophy, Agenesis of corp...	OMIM:616602
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Involuntary movements, Dystonia, ...	OMIM:606703
Aicardi-Goutieres Syndrome 9	Cerebral atrophy, Optic atrophy, Hypertonia, Elevated circulating hepatic transaminase concentrat...	OMIM:619487
Autosomal Recessive Spastic Paraplegia Type 55	Optic atrophy, Babinski sign, Decreased sensory nerve conduction velocity, Distal sensory impairm...	ORPHA:320375
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur...	ORPHA:420485
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Cerebellar dysplasia, Severe sensorineural hearing imp...	OMIM:604213
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Difficulty walking, Abnormality of extrapyramidal motor function, Peripheral axona...	ORPHA:320406
Developmental And Epileptic Encephalopathy 71	Gliosis	OMIM:618328
Adrenomyeloneuropathy	Spastic gait, Babinski sign, Distal lower limb muscle weakness, Cerebral dysmyelination, Distal s...	ORPHA:139399
Seizures, Cortical Blindness, And Microcephaly Syndrome	Optic atrophy	OMIM:616632
Spinocerebellar Ataxia, Autosomal Recessive 21	Limb ataxia, Distal sensory impairment, Impaired pain sensation, Spasticity, Tremor, Frequent fal...	OMIM:616719
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebral atrophy, Brain atrophy, Neuronal loss in central nervous system, Cerebellar atrophy, Hyp...	OMIM:604377
Retinitis Pigmentosa 14	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor, Retinal arteriola...	OMIM:600132
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia...	ORPHA:284324
Dystonia 12	Bradykinesia, Torticollis, Tremor, Dystonia, Parkinsonism	OMIM:128235
Metachromatic Leukodystrophy	Tip-toe gait, Decreased nerve conduction velocity, Abnormal circulating enzyme concentration or a...	ORPHA:512
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Ataxia, Abnor...	OMIM:617145
Huntington Disease-Like 1	Bradykinesia, Chorea, Incoordination, Poor fine motor coordination, Cerebellar atrophy, Frequent ...	ORPHA:157941
Retinitis Pigmentosa 56	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:613581
Spinocerebellar Ataxia Type 18	Peripheral axonal neuropathy, Cerebellar atrophy, Titubation, Gait ataxia, Hearing impairment, He...	ORPHA:98771
Dpm1-Cdg	Cerebral atrophy, Optic atrophy, Pontocerebellar atrophy, Muscular dystrophy, Elevated circulatin...	ORPHA:79322
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular septal hypertrophy, Vertigo, Increased mitochondrial number, Ventricular hypertrophy,...	ORPHA:263297
Spinocerebellar Ataxia 17	Bradykinesia, Limb ataxia, Apraxia, Broad-based gait, Neuronal loss in central nervous system, Po...	OMIM:607136
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Optic atrophy, Cerebral hypomyelination, High myopia, Cerebellar vermis atrophy, Spasticity, Trem...	OMIM:614381
Molybdenum Cofactor Deficiency, Complementation Group A	Cerebral atrophy, Aldehyde oxidase deficiency, Molybdenum cofactor deficiency, Increased urinary ...	OMIM:252150
Familial Dyskinesia And Facial Myokymia	Limb hypertonia, Resting tremor, Chorea, Dystonia, Myoclonus	ORPHA:324588
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating hepatic transaminase concentration, Facial diplegia, Cerebellar atrophy, Cer...	ORPHA:254892
Opticocochleodentate Degeneration	Optic atrophy	OMIM:258700
Spinocerebellar Ataxia, Autosomal Recessive 6	Spasticity, Cerebellar atrophy, Intention tremor, Gait ataxia, Ataxia, Clumsiness, Dysmetria	OMIM:608029
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Cerebral atrophy, Babinski sign, Cerebellar vermis atrophy, Diplopia, Sensorineural hearing impai...	OMIM:618170
Retinitis Pigmentosa 72	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Peripapillary atro...	OMIM:616469
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary aminoisobutyric acid, Beta-alaninuria, Reduced methylmalonate semialdehyde dehyd...	OMIM:614105
Congenital Disorder Of Glycosylation, Type Iaa	Attenuation of retinal blood vessels, Optic disc pallor	OMIM:617082
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor	OMIM:616732
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Hypsarrhythmia, Cardiomyopathy, Cerebral visual impairment, Lateral ventricle...	OMIM:600721
Mogs-Cdg	Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality...	ORPHA:79330
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri...	OMIM:620482
Spinocerebellar Ataxia, Autosomal Recessive 17	Limb ataxia, Oculomotor apraxia, Broad-based gait, Cerebellar vermis hypoplasia, Truncal ataxia, ...	OMIM:616127
Ataxia-Pancytopenia Syndrome	Babinski sign, Decreased nerve conduction velocity, Distal sensory impairment, Impaired vibration...	OMIM:159550
Neurodegeneration With Brain Iron Accumulation 7	Cerebral atrophy, Lower limb spasticity, Tremor, Cerebellar atrophy, Ataxia, Loss of ambulation, ...	OMIM:617916
Spinocerebellar Ataxia, Autosomal Recessive 10	Limb ataxia, Babinski sign, Fasciculations, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Inte...	OMIM:613728
Den Hoed-De Boer-Voisin Syndrome	Multifocal epileptiform discharges, Global brain atrophy, Inability to walk, Lower limb spasticit...	OMIM:619229
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Vitreoretinopathy, Retinal vascular tortuosity, Abnormal optic disc morphology	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, Retinal detachment, Hydrocephalus, Demyelinating peripheral neuropathy, Cerebral p...	OMIM:619833
3-Methylglutaconic Aciduria, Type Iii	Optic atrophy	OMIM:258501
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Optic atrophy, Spastic gait, Lower limb amyotrophy, Optic nerve hypoplasia, Peripheral axonal neu...	ORPHA:496790
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy	OMIM:602271
Ceroid Lipofuscinosis, Neuronal, 3	Optic atrophy, Macular degeneration, Retinal degeneration, Rod-cone dystrophy	OMIM:204200
Beta-Propeller Protein-Associated Neurodegeneration	Cerebral atrophy, Optic atrophy, Bradykinesia, Tremor, Cerebellar atrophy, Abnormal autonomic ner...	ORPHA:329284
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Decreased liver function, Difficulty walking, Broad-based gait, Cerebellar vermis atrophy, Poor f...	ORPHA:512260
Branchiogenic-Deafness Syndrome	Short stature, Branchial fistula, Branchial cyst	OMIM:609166
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Hypertonia, Abnormality of Krebs cycle metabolism, Ragged-red muscle fibers, Senso...	ORPHA:255210
Glutaric Acidemia I	Hydrocephalus, Symmetrical progressive peripheral demyelination, Delayed myelination, Rigidity, O...	OMIM:231670
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Optic atrophy, Gliosis, Abnormal autonomic nervous system physiology	OMIM:614498
Developmental And Epileptic Encephalopathy 48	Cerebral atrophy, Limb hypertonia, Hypsarrhythmia, Cerebellar atrophy, Rod-cone dystrophy, Optic ...	OMIM:617276
Mitochondrial Complex I Deficiency, Nuclear Type 37	Cerebral atrophy, Hypertonia, Tetraplegia, Decreased activity of mitochondrial complex I, Cerebel...	OMIM:619272
Developmental And Epileptic Encephalopathy 37	Cerebral atrophy, Hyperkinetic movements, Chorea, Spasticity, Cerebellar atrophy, Cogwheel rigidi...	OMIM:616981
Cataract-Ataxia-Deafness Syndrome	Hypertonia, Tremor, Ataxia	ORPHA:1368
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Global brain atrophy, Distal lower limb muscle weakness, Steppage gait, Spastic dysarthria, Impai...	ORPHA:94124
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia	OMIM:617836
Verheij Syndrome	Truncus arteriosus, Short stature, Growth delay, Intrauterine growth retardation, Short neck, Ven...	OMIM:615583
X-Linked Charcot-Marie-Tooth Disease Type 1	Impaired pain sensation, Tremor, Ataxia	ORPHA:101075
Early-Onset X-Linked Optic Atrophy	Optic atrophy, Decreased nerve conduction velocity, Optic disc pallor	ORPHA:98890
X-Linked Intellectual Disability, Hedera Type	Hypomimic face, Babinski sign, Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Cere...	ORPHA:93952
Coenzyme Q10 Deficiency, Primary, 4	Decreased level of coenzyme Q10 in skeletal muscle, Tremor, Cerebellar atrophy, Increased intramy...	OMIM:612016
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebral atrophy, Hypertonia, Jaundice, Visual loss, Cerebral cortical neurodegeneration, Elevate...	OMIM:203700
Craniodiaphyseal Dysplasia	Optic atrophy	ORPHA:1513
Warburg Micro Syndrome 2	Optic atrophy, Global brain atrophy, Undetectable visual evoked potentials, Macrotia, Flexion con...	OMIM:614225
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Truncal ataxia, Tremor, Gait ataxia, Myoclonus	OMIM:618587
Spinocerebellar Ataxia 15	Limb ataxia, Truncal ataxia, Gait ataxia, Action tremor, Postural tremor	OMIM:606658
Congenital Disorder Of Glycosylation, Type Ia	Elevated circulating hepatic transaminase concentration, Cerebellar vermis hypoplasia, Tremor, Ce...	OMIM:212065
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Inability to walk, Involuntary movements, Lateral ventricle dilatation, Large earlobe, Elevated c...	OMIM:615716
Developmental And Epileptic Encephalopathy 93	Cerebral atrophy, Optic atrophy, Inability to walk, Hypermetropia, Hypsarrhythmia, Cerebellar atr...	OMIM:618012
Stxbp1-Related Encephalopathy	Spasticity, Tremor, Dystonia, Ataxia, Spastic tetraplegia	ORPHA:599373
X-Linked Mandibulofacial Dysostosis	Webbed neck, Branchial anomaly, Short stature, Abnormal mitral valve morphology, Pulmonic stenosis	ORPHA:1131
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Hypertonia, Joint contracture of the 5th finger, Patent foramen ovale, Cerebral palsy, Joint cont...	OMIM:618914
Severe Intellectual Disability And Progressive Spastic Paraplegia	Babinski sign, Difficulty walking, Spastic dysarthria, Facial hypotonia, Spasticity, Cerebellar a...	ORPHA:280763
Spinocerebellar Ataxia 11	Limb ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia, Cerebellar atrophy, G...	OMIM:604432
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Gliosis, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105550
Cognitive Impairment With Or Without Cerebellar Ataxia	Optic nerve hypoplasia, Cerebellar atrophy, Gait ataxia, Ataxia, Amblyopia, Dysmetria	OMIM:614306
Myoclonic-Atonic Epilepsy	Eyelid myoclonus, Tremor, Ataxia	OMIM:616421
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Inability to walk, Cerebellar atrophy, Gait ataxia, Increased variability in muscle fiber diamete...	OMIM:617915
Lipoyltransferase 1 Deficiency	Decreased liver function, Elevated circulating hepatic transaminase concentration, Abnormality of...	OMIM:616299
Choreoacanthocytosis	Chorea, Abnormal erythrocyte enzyme concentration or activity, Abnormal autonomic nervous system ...	ORPHA:2388
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Sensorineural hearing impairment, Patent foramen ovale, Low-set ears, Parietal cortical atrophy, ...	OMIM:620075
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Cerebral atrophy, Dandy-Walker malformation, Cerebellar vermis atrophy, Spasticity, Spastic tetra...	OMIM:616154
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Muscular dystrophy, Cerebellar cyst, Retinal detachment, Optic nerve hypoplasia, Hydrocephalus, H...	OMIM:615181
Leukoencephalopathy With Ataxia	Retinoschisis, Chorioretinal atrophy, Choroidal neovascularization, Optic neuropathy	OMIM:615651
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Limb ataxia, Torticollis, Truncal ataxia, Spasticity, Cerebellar atrophy, Head titubation, Abnorm...	OMIM:617560
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Babinski sign, Progressive cerebellar ataxia, Dysdiadochokinesis, Intention tremor, Gait ataxia, ...	ORPHA:504476
Epilepsy, Familial Adult Myoclonic, 1	Tremor	OMIM:601068
Fatty Acyl-Coa Reductase 1 Deficiency	Inability to walk, Dandy-Walker malformation, Spastic tetraparesis, Cerebellar atrophy, Macrotia	ORPHA:438178
Spinocerebellar Ataxia Type 13	Optic atrophy, Bradykinesia, Limb ataxia, Difficulty walking, Torticollis, Cerebellar atrophy, Im...	ORPHA:98768
Aicardi-Goutieres Syndrome 4	Cerebral atrophy, Elevated circulating hepatic transaminase concentration, Hydrocephalus, Spastic...	OMIM:610333
Brunet-Wagner Neurodevelopmental Syndrome	Cerebral atrophy, Optic atrophy, Cerebellar atrophy	OMIM:619690
Spinocerebellar Ataxia, Autosomal Recessive 27	Torticollis, Gait imbalance, Spasticity, Cerebellar atrophy, Frequent falls, Gait ataxia, Cerebra...	OMIM:618369
Autosomal Recessive Spastic Paraplegia Type 78	Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Peripheral axonal neuropathy, S...	ORPHA:513436
Bilateral Generalized Polymicrogyria	Paroxysmal dyskinesia, Eyelid myoclonus, Spasticity, Cerebral visual impairment, Lateral ventricl...	ORPHA:208447
Spinocerebellar Ataxia Type 2	Cerebellar Purkinje layer atrophy, Progressive cerebellar ataxia, Fasciculations, Chorea, Spinal ...	ORPHA:98756
Srd5A3-Cdg	Optic atrophy, Visual loss, Optic disc hypoplasia, Elevated circulating hepatic transaminase conc...	ORPHA:324737
Cerebrooculofacioskeletal Syndrome 1	Brain atrophy, Sensorineural hearing impairment, Elbow flexion contracture, Cerebellar atrophy, C...	OMIM:214150
Spinocerebellar Ataxia 5	Limb ataxia, Broad-based gait, Incoordination, Dysdiadochokinesis, Cerebellar atrophy, Upper moto...	OMIM:600224
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive	Cerebellar atrophy	OMIM:615596
Urocanic Aciduria	Action tremor, Truncal ataxia, Ataxia, Gait ataxia	ORPHA:210128
Congenital Disorder Of Glycosylation, Type Iig	Cerebral atrophy, Cerebellar vermis hypoplasia, Brain atrophy, Microtia, Stenosis of the external...	OMIM:611209
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Cerebral atrophy, Hypomimic face, Cerebellar atrophy, Gait ataxia, Dysmetria	ORPHA:320385
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Wildervanck Syndrome	Pseudopapilledema	OMIM:314600
Spinocerebellar Ataxia Type 27	Limb ataxia, Akinesia, Difficulty walking, Sensory axonal neuropathy, Red-green dyschromatopsia, ...	ORPHA:98764
Congenital Disorder Of Glycosylation, Type Id	Cerebral atrophy, Optic atrophy, Hypertonia, Hypsarrhythmia, Cerebellar atrophy, Spastic tetrapar...	OMIM:601110
Dystonia 7, Torsion	Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Blepharospasm, Clumsiness,...	OMIM:602124
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Cerebral atrophy, Difficulty walking, Retinal dystrophy, Lower limb spasticity, Sensorineural hea...	ORPHA:464282
Immunodeficiency 83, Susceptibility To Viral Infections	Gliosis	OMIM:613002
Developmental Delay With Or Without Epilepsy	Spastic gait, EEG with polyspike wave complexes, Spasticity, Cerebellar atrophy, EEG with frontal...	OMIM:620540
Leber Congenital Amaurosis 16	Optic disc pallor	OMIM:614186
Dystonia 22, Juvenile-Onset	Torticollis, Lower limb spasticity, Dysdiadochokinesis, Cerebellar atrophy, Intention tremor, Dys...	OMIM:620453
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Hypomimic face, Abnormal vestibulo-ocular reflex, Babinski sign, Akinesia, Visual loss, Cerebella...	ORPHA:247234
Spinocerebellar Ataxia, Autosomal Recessive 15	Unsteady gait, Cerebellar atrophy, Ataxia, Gait ataxia	OMIM:615705
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Cerebral atrophy, Macular coloboma, Optic atrophy, Jaundice, Hydrocephalus, Abnormality of macula...	ORPHA:79282
Retinitis Pigmentosa 60	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:613983
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Cerebellar vermis hypoplasia, Tremor, Cerebellar atrophy, Gait disturbance, Ga...	OMIM:618090
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Hypertonia, Optic nerve hypoplasia, Sensorineural hearing impairment, Spasticity, Retinal colobom...	OMIM:300749
Neurodegeneration With Brain Iron Accumulation 3	Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Rigidity,...	OMIM:606159
Combined Saposin Deficiency	Optic atrophy	OMIM:611721
Monomelic Amyotrophy	Fasciculations, Tremor	ORPHA:65684
Episodic Ataxia Type 6	Photophobia, Vertigo, Cerebellar atrophy, Ataxia, Reduced visual acuity, Hemiplegia, Slurred spee...	ORPHA:209967
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Optic disc hypoplasia, Cerebellar vermis hypoplasia, Rhombencephalosynapsis, Low-set ears, Dilate...	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
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic atrophy, Optic disc pallor	OMIM:612989
Parkinsonism-Dystonia 3, Childhood-Onset	Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Dystonia, Ataxia, Parkinsonism	OMIM:619738
Retinitis Pigmentosa 87 With Choroidal Involvement	Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule pigmentation of the reti...	OMIM:618697
Developmental And Epileptic Encephalopathy 99	Frontotemporal cerebral atrophy, Eyelid myoclonus, Atrophy/Degeneration affecting the brainstem, ...	OMIM:619606
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Dysplastic corpus callosum, Situs inversus totalis, Optic nerve hypoplasia, Spasticity, Cerebella...	OMIM:614833
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Difficulty walking, Gait imbalance, Sensorineural hearing impairment,...	ORPHA:488627
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Myoclonus	OMIM:613608
Parkinson Disease 2, Autosomal Recessive Juvenile	Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Cogwheel rigidity, Gait...	OMIM:600116
Neuroectodermal Melanolysosomal Disease	Optic atrophy, Macular dystrophy, Aplasia/Hypoplasia of the macula, Abnormal optic nerve morphology	ORPHA:33445
Retinitis Pigmentosa 66	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:615233
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Progressive cerebellar ataxia, Truncal ataxia, Spasticity, Dysdiadochokinesis, Cerebellar atrophy...	ORPHA:352403
Spastic Paraplegia 20, Autosomal Recessive	Spastic gait, Babinski sign, Difficulty walking, Impaired vibration sensation at ankles, Lower li...	OMIM:275900
Hyperphenylalaninemia, Bh4-Deficient, A	Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Parkinsonism, Chor...	OMIM:261640
Spinocerebellar Ataxia 42	Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Tremor, Cerebellar atrophy, ...	OMIM:616795
Neuromuscular Oculoauditory Syndrome	Peripheral hypomyelination, Decreased nerve conduction velocity, Sensory axonal neuropathy, Calf ...	OMIM:618733
X-Linked Charcot-Marie-Tooth Disease Type 2	Babinski sign, Distal lower limb muscle weakness, Distal lower limb amyotrophy, Peroneal muscle w...	ORPHA:101076
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Muscular dystrophy, Cerebellar cyst, Retinal detachment, Dandy-Walker malformation, Hydrocephalus...	OMIM:613153
Neurodegeneration With Brain Iron Accumulation 4	Optic atrophy, Babinski sign, Abnormality of extrapyramidal motor function, Distal amyotrophy, Tr...	OMIM:614298
Episodic Ataxia, Type 6	Photophobia, Truncal ataxia, Vertigo, Cerebellar atrophy, Episodic ataxia, Hemiplegia, Hemiparesi...	OMIM:612656
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Progressive cerebellar ataxia, Tremor, Cerebellar atrophy, Hearing impairment, Myoclonus, Abnorma...	ORPHA:139485
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Developmental And Epileptic Encephalopathy 16	Optic atrophy	OMIM:615338
Jalili Syndrome	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:217080
Pontocerebellar Hypoplasia, Type 2B	Cerebral atrophy, Babinski sign, Limb hypertonia, Cerebellar vermis hypoplasia, Chorea, Spasticit...	OMIM:612389
Developmental And Epileptic Encephalopathy 14	Gliosis	OMIM:614959
Molybdenum Cofactor Deficiency, Complementation Group B	Cerebral atrophy, Hypertonia, Molybdenum cofactor deficiency, Increased urinary taurine, Myocloni...	OMIM:252160
Superficial Siderosis	Atrophy/Degeneration affecting the brainstem, Vertigo, Cerebellar atrophy, Ataxia, Lower limb mus...	ORPHA:247245
Spinocerebellar Ataxia, Autosomal Recessive 14	Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Intention tremor, Gait ataxia, Unsteady gait,...	OMIM:615386
Cog8-Cdg	Elevated circulating hepatic transaminase concentration, Chronic axonal neuropathy, Atrophy/Degen...	ORPHA:95428
Joubert Syndrome 15	Exencephaly	OMIM:614464
Neuropathy, Congenital Hypomyelinating, 3	Hypomimic face, Babinski sign, Spasticity, Facial diplegia, Cerebellar atrophy, Low-set ears, Hea...	OMIM:618186
Barth Syndrome	Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology, Gait disturbance, Skeletal myopat...	OMIM:302060
Ceroid Lipofuscinosis, Neuronal, 1	Optic atrophy, Macular degeneration, Retinal degeneration	OMIM:256730
Methionine Adenosyltransferase I/Iii Deficiency	CNS demyelination, Peripheral demyelination	OMIM:250850
Autosomal Recessive Ataxia, Beauce Type	Babinski sign, Chronic axonal neuropathy, Lower limb spasticity, Fasciculations, Sensory axonal n...	ORPHA:88644
Developmental And Epileptic Encephalopathy 31B	Optic atrophy, Appendicular spasticity, Hypsarrhythmia, Brain atrophy, Low-set ears, Involuntary ...	OMIM:620352
Cerebral Creatine Deficiency Syndrome 2	Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor...	OMIM:612736
Eales Disease	Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Vitreous floaters...	ORPHA:40923
Wolfram-Like Syndrome	Optic atrophy, Peripheral axonal neuropathy	ORPHA:411590
Pontocerebellar Hypoplasia, Type 2A	Optic atrophy, Gliosis	OMIM:277470
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Parkinsonism-Dystonia 2, Infantile-Onset	Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Dystonia, Ataxia, Parkinsonism	OMIM:618049
Amaurosis-Hypertrichosis Syndrome	Optic atrophy, Cone/cone-rod dystrophy, Retinal dystrophy	ORPHA:1021
Retinal Dystrophy And Microvillus Inclusion Disease	Optic disc pallor	OMIM:619446
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Difficulty walking, Progressive cerebellar ataxia, Spastic dysarthria, Spinocerebe...	ORPHA:95433
Spinocerebellar Ataxia 27B, Late-Onset	Limb ataxia, Vertigo, Cerebellar atrophy, Gait ataxia, Postural tremor, Diplopia	OMIM:620174
Slc39A8-Cdg	Inability to walk, Hypermetropia, Hypsarrhythmia, Elbow flexion contracture, Cerebellar atrophy, ...	ORPHA:468699
Coenzyme Q10 Deficiency, Primary, 1	Visual loss, Decreased level of coenzyme Q10 in skeletal muscle, Ragged-red muscle fibers, Sensor...	OMIM:607426
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Muscular dystrophy, Cerebellar cyst, Undetectable electroretinogram, Retinal dyspl...	OMIM:253280
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Impaired distal vibration sensation, Decreased number of peripheral myelinated nerve fibers, Impa...	OMIM:607080
Spinocerebellar Ataxia 19	Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cerebellar atrophy, Cogwheel rigidity...	OMIM:607346
Congenital Disorder Of Glycosylation, Type Ie	Optic atrophy, Muscular dystrophy, Pontocerebellar atrophy, Ankle flexion contracture, Elevated c...	OMIM:608799
X-Linked Dystonia-Parkinsonism	Bradykinesia, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with favorable response to d...	ORPHA:53351
Zaki Syndrome	Congenital diaphragmatic hernia, Spastic gait, Hypertonia, Cerebellar vermis hypoplasia, Patent f...	OMIM:619648
Spinocerebellar Ataxia, Autosomal Recessive 26	Limb ataxia, Oculomotor apraxia, Impaired distal proprioception, Positive Romberg sign, Dysdiadoc...	OMIM:617633
Dystonia 2, Torsion, Autosomal Recessive	Torsion dystonia, Tremor, Blepharospasm, Torticollis	OMIM:224500
Branchiootic Syndrome 3	Branchial cyst	OMIM:608389
Spinocerebellar Ataxia 36	Limb ataxia, Babinski sign, Hypertonia, Fasciculations, Tongue fasciculations, Incoordination, Tr...	OMIM:614153
Developmental And Epileptic Encephalopathy 65	Cerebral atrophy, Hypsarrhythmia, Spasticity, Cerebellar atrophy, Ventriculomegaly, EEG with burs...	OMIM:618008
Pontocerebellar Hypoplasia, Type 4	Gliosis	OMIM:225753
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To	Nonarteritic anterior ischemic optic neuropathy	OMIM:258660
Gordon Holmes Syndrome	Cerebral atrophy, Chorea, Cerebellar atrophy, Ataxia	OMIM:212840
Lopes-Maciel-Rodan Syndrome	Cerebral atrophy, Bradykinesia, Hypertonia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebe...	OMIM:617435
Microcephaly 10, Primary, Autosomal Recessive	Cerebral atrophy, Hypertonia, Spasticity, Cerebellar atrophy, Cerebellar hemisphere hypoplasia, A...	OMIM:615095
Spinocerebellar Ataxia Type 17	Cerebellar Purkinje layer atrophy, Torticollis, Neuronal loss in central nervous system, Generali...	ORPHA:98759
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Recurrent otitis media, Frequent falls, Intention tremor, Lower limb hypertonia, Dextrotransposit...	OMIM:619995
Peho Syndrome	Optic atrophy, Visual loss, Hypsarrhythmia, Atrophy/Degeneration affecting the brainstem, Abnorma...	ORPHA:2836
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Optic nerve hypoplasia, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
Developmental And Epileptic Encephalopathy 98	Cerebral atrophy, Cerebellar atrophy, EEG with burst suppression	OMIM:619605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Optic atrophy	OMIM:613151
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Knee flexion contracture, Lower limb spasticity, Hypsarrhythmia, Neuronal loss in central nervous...	OMIM:300868
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia	OMIM:618637
Developmental And Epileptic Encephalopathy 95	Cerebellar atrophy, Cerebral visual impairment, Ataxia, Delayed CNS myelination, Low alkaline pho...	OMIM:618143
Developmental And Epileptic Encephalopathy 42	Hypertonia, Tremor, Athetosis, Ataxia, Flexion contracture	OMIM:617106
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Abnormal CNS myelination, Retinal arterial tortuosity, Limb hypertonia, Cardiomegaly, Retinal det...	OMIM:620371
Dentatorubral Pallidoluysian Atrophy	Limb ataxia, Impaired proprioception, Oromandibular dystonia, Progressive cerebellar ataxia, Dyss...	ORPHA:101
Epilepsy, Progressive Myoclonic, 6	Tremor, Ataxia, Myoclonus	OMIM:614018
Spinocerebellar Ataxia 10	Bradykinesia, Babinski sign, Limb fasciculations, Decreased nerve conduction velocity, Progressiv...	OMIM:603516
Cerebrotendinous Xanthomatosis	Cerebral atrophy, Tendon xanthomatosis, Babinski sign, Difficulty walking, Delayed somatosensory ...	OMIM:213700
Spinocerebellar Ataxia 44	Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Frequent falls, Gait ataxia, Tinnitus, Ataxia...	OMIM:617691
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Patent foramen ovale, Low-set ears, Contracture of the proximal ...	ORPHA:457279
Myopathy With Extrapyramidal Signs	Optic atrophy, Difficulty walking, Elevated circulating hepatic transaminase concentration, Abnor...	OMIM:615673
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Optic atrophy, Hypertonia, Sensorineural hearing impairment, Decreased activity of mitochondrial ...	OMIM:616896
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Retinal detachment, Chorioretinal coloboma	ORPHA:1473
Huntington Disease	Bradykinesia, Neuronal loss in central nervous system, Chorea, Cerebellar atrophy, Gait ataxia, R...	OMIM:143100
Mitochondrial Complex I Deficiency, Nuclear Type 27	Optic atrophy	OMIM:618248
Marinesco-Sjogren Syndrome	Limb ataxia, Cerebellar cortical atrophy, Spasticity, Rimmed vacuoles, Cerebellar atrophy, Gait a...	OMIM:248800
Spastic Ataxia 4, Autosomal Recessive	Optic atrophy	OMIM:613672
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Rod-cone dystrophy, Macular atrophy, Optic disc pallor	OMIM:615434
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly, Delayed CNS myelination, Protruding ear, Cerebellar hypoplasia, Blindness	OMIM:618731
Isolated Atp Synthase Deficiency	Optic atrophy, Sensorineural hearing impairment, Tetraplegia, Cerebellar atrophy, Hypertrophic ca...	ORPHA:254913
15Q11.2 Microdeletion Syndrome	Abnormal pinna morphology, Total anomalous pulmonary venous return, Dilated fourth ventricle, Abn...	ORPHA:261183
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Patent foramen ovale, Chiari malformation, Conductive hearing impairment,...	OMIM:609053
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Limb ataxia, Pontocerebellar atrophy, Impaired proprioception, Chronic axonal neuropathy, Oculomo...	OMIM:606002
Congenital Disorder Of Glycosylation, Type Iih	Cerebellar atrophy, Ataxia, Elevated serum transaminases during infections, Elevated circulating ...	OMIM:611182
Paganini-Miozzo Syndrome	High myopia, Microtia, Low-set ears, Posteriorly rotated ears, Lateral ventricle dilatation	OMIM:301025
Pontocerebellar Hypoplasia, Type 1D	Cerebral atrophy, Fasciculations, Tongue fasciculations, Spasticity, Cerebellar atrophy, Low-set ...	OMIM:618065
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Babinski sign, Hypertonia, Decreased nerve conduction velocity, Dysdiadochokinesis, Cerebellar at...	OMIM:618356
Charcot-Marie-Tooth Disease Type 4B2	Optic atrophy, Decreased distal sensory nerve action potential, Proximal muscle weakness in upper...	ORPHA:99956
Holoprosencephaly 5	Hydrocephalus, Macrotia, Lateral ventricle dilatation	OMIM:609637
Sclerosteosis	Optic atrophy, Facial palsy	ORPHA:3152
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Hydrocephalus, Sensorineural hearing impairment, Right atrial enlargement, Communi...	OMIM:615219
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Broad-based gait, Sensorineural hearing impairment, Cerebellar atrophy, Ataxia, Dysmetria, Diplopia	OMIM:618098
Severe Neurodegenerative Syndrome With Lipodystrophy	Generalized lipodystrophy, Spasticity, Tremor, Poor motor coordination, Limb dystonia, Gait ataxi...	ORPHA:363400
Abetalipoproteinemia	Retinopathy, CNS demyelination, Ataxia, Retinal degeneration, Peripheral demyelination	OMIM:200100
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Progressive spasticity, Lateral ventricle dilatation	OMIM:619972
Spinocerebellar Ataxia, Autosomal Recessive 20	Babinski sign, Inability to walk, Apraxia, Sensorineural hearing impairment, Spasticity, Cerebell...	OMIM:616354
Developmental And Epileptic Encephalopathy 67	Hypsarrhythmia, Athetosis, Cerebellar atrophy, Gait disturbance, EEG abnormality	OMIM:618141
Hereditary Methemoglobinemia	Global brain atrophy, Hypertonia, Frontal cortical atrophy, Spasticity, Athetosis, Cerebellar atr...	ORPHA:621
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Limb ataxia, Truncal ataxia, Cerebellar atrophy, Gait disturbance, Ataxia, Unsteady gait	ORPHA:284271
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Cerebellar atrophy, Clonus, Prolonge...	OMIM:618868
Fatty Acid Hydroxylase-Associated Neurodegeneration	Optic atrophy, Progressive spastic paraparesis, Color vision test abnormality, Falls, Cerebellar ...	ORPHA:329308
Pontocerebellar Hypoplasia, Type 1B	Cerebral atrophy, Cerebellar cyst, Retinal dystrophy, Oculomotor apraxia, Tongue fasciculations, ...	OMIM:614678
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Visual loss, Elevated circulating hepatic transaminase concentration, Cerebral palsy, Head tituba...	OMIM:619475
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Optic atrophy, Sensory axonal neuropathy	ORPHA:329314
Trigeminal Neuralgia	Cranial nerve compression, CNS demyelination, Somatic sensory dysfunction, Peripheral demyelinati...	ORPHA:221091
Pontocerebellar Hypoplasia, Type 2E	Cerebral atrophy, Optic atrophy, Hypertonia, Spasticity, Cerebellar atrophy, Opisthotonus, Flexio...	OMIM:615851
Congenital Disorder Of Glycosylation, Type Iin	Cerebral atrophy, Inability to walk, Cerebellar vermis atrophy, Cerebellar atrophy, Hearing impai...	OMIM:616721
Joubert Syndrome 30	Retinal dystrophy, Dandy-Walker malformation, Cerebellar atrophy, Reduced visual acuity, Agenesis...	OMIM:617622
Peroxisome Biogenesis Disorder 5A (Zellweger)	Sensorineural hearing impairment, Cerebellar atrophy, Increased circulating lactate dehydrogenase...	OMIM:614866
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Optic atrophy, Inability to walk, Lower limb spasticity, Atrophy/Degeneration affecting the brain...	OMIM:617193
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebral atrophy, Decreased liver function, Elevated circulating hepatic transaminase concentrati...	OMIM:124000
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome	Cerebral atrophy, Babinski sign, Atrophy/Degeneration affecting the brainstem, Demyelinating peri...	ORPHA:445062
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Optic atrophy	OMIM:619470
Spastic Paraplegia 51, Autosomal Recessive	Babinski sign, Inability to walk, Facial hypotonia, Spasticity, Cerebellar atrophy, Cerebral cort...	OMIM:613744
Warburg Micro Syndrome 4	Optic atrophy, Babinski sign, Inability to walk, Cerebellar atrophy, Cerebral cortical atrophy, D...	OMIM:615663
Autosomal Recessive Spastic Paraplegia Type 39	Babinski sign, Generalized limb muscle atrophy, Lower limb spasticity, Atrophy of the spinal cord...	ORPHA:139480
Aminoacylase 1 Deficiency	Cerebral atrophy, Sensorineural hearing impairment, Cerebellar atrophy, Cerebral cortical atrophy...	OMIM:609924
Glut1 Deficiency Syndrome 2	Tremor, Ataxia, Dystonia, Choreoathetosis	OMIM:612126
Craniodiaphyseal Dysplasia, Autosomal Dominant	Optic atrophy, Papilledema, Facial diplegia	OMIM:122860
Alpha-Mannosidosis, Adult Form	Mixed hearing impairment, Clumsiness, Subcortical cerebral atrophy, Cerebellar atrophy, Cerebral ...	ORPHA:309288
Peroxisome Biogenesis Disorder 6A (Zellweger)	Decreased liver function, Low-set ears, Colpocephaly	OMIM:614870
Craniofacial Microsomia 2	Dermal sinus tract	OMIM:620444
Hermansky-Pudlak Syndrome	Photophobia, Abnormal optic nerve morphology, Abnormality of visual evoked potentials, Myopia, Am...	ORPHA:79430
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Cerebral atrophy, Difficulty walking, Progressive spasticity, Cerebellar atrophy, Head titubation...	ORPHA:527497
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Hypsarrhythmia, Poor gross motor coordination, Cerebral palsy, Delayed myelination, Flexion contr...	ORPHA:2148
Spinocerebellar Ataxia 34	Limb ataxia, Fasciculations, Peripheral axonal neuropathy, Spasticity, Dysdiadochokinesis, Cerebe...	OMIM:133190
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Narp Syndrome	Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis...	ORPHA:644
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Optic atrophy, Inability to walk, Spasticity, Cerebellar atrophy, Camptodactyly, Cerebral cortica...	OMIM:619576
Spastic Ataxia 3, Autosomal Recessive	Cerebellar vermis atrophy, Spasticity, Cerebellar atrophy, Gait ataxia, Cerebral cortical atrophy...	OMIM:611390
Episodic Ataxia Type 1	Tip-toe gait, Hypertonia, Vertigo, Calf muscle hypertrophy, Cerebellar atrophy, Blurred vision, P...	ORPHA:37612
Neuropathy, Hereditary Sensory, Type Ie	Cerebral atrophy, Sensorineural hearing impairment, Hearing impairment, Ataxia, Decreased number ...	OMIM:614116
Leber Optic Atrophy	Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Leber optic atrophy	OMIM:535000
Combined Oxidative Phosphorylation Deficiency 32	Optic atrophy, Inability to walk, Spasticity, Tremor, Cerebellar atrophy, Joint contracture, Chor...	OMIM:617664
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Bradykinesia, Oculogyric crisis, Limb hypertonia, Tremor, Cerebral palsy, Rigidity, Dystonia, Sma...	ORPHA:70594
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Hypertonia, Sensorineural hearing impairment, Spasticity, Cerebellar atrophy, Cerebral visual imp...	ORPHA:544503
Pelizaeus-Merzbacher Disease	Optic atrophy, Global brain atrophy, Cerebral dysmyelination, Sudanophilic leukodystrophy, Inabil...	OMIM:312080
Meckel Syndrome, Type 10	Dandy-Walker malformation, Abnormal pinna morphology, Camptodactyly, Dilated fourth ventricle, Ce...	OMIM:614175
Ataxia With Vitamin E Deficiency	Tendon xanthomatosis, Impaired proprioception, Progressive cerebellar ataxia, Positive Romberg si...	OMIM:277460
Spinocerebellar Ataxia Type 29	Oculomotor apraxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxi...	ORPHA:208513
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Spinocerebellar Ataxia Type 40	Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Uns...	ORPHA:423275
Halperin-Birk Syndrome	Optic atrophy, Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Hyperto...	OMIM:618651
Phenylketonuria	Tremor, Ataxia, Lower limb spasticity	ORPHA:716
Perrault Syndrome 1	Sensorineural hearing impairment, Cerebellar atrophy, Intention tremor, Gait ataxia, Ataxia, Spas...	OMIM:233400
Developmental And Epileptic Encephalopathy 5	Cerebral atrophy, Hypsarrhythmia, Atrophy/Degeneration affecting the brainstem, Cerebellar atroph...	OMIM:613477
Developmental And Epileptic Encephalopathy 44	Cerebral atrophy, Spasticity, Athetosis, Cerebellar atrophy, Delayed CNS myelination	OMIM:617132
East Syndrome	Peripheral hypomyelination, Difficulty walking, Inability to walk, Peripheral axonal neuropathy, ...	ORPHA:199343
Ataxia-Telangiectasia-Like Disorder 1	Oculomotor apraxia, Lower limb spasticity, Chorea, Distal amyotrophy, Dysdiadochokinesis, Cerebel...	OMIM:604391
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	Limb ataxia, Babinski sign, Truncal titubation, Oculomotor apraxia, Gait ataxia, Ataxia, Clumsine...	OMIM:609270
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Optic atrophy	ORPHA:352682
Familial Paroxysmal Ataxia	Torticollis, Cerebellar vermis atrophy, Vertigo, Tinnitus, Ataxia, Hemiplegia, Diplopia	ORPHA:97
Basel-Vanagaite-Smirin-Yosef Syndrome	Cerebral atrophy, Difficulty walking, Inability to walk, Spasticity, Low-set ears, Ventricular se...	ORPHA:464738
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Optic atrophy, Inability to walk, Abnormality of extrapyramidal motor function, Brain atrophy, Se...	OMIM:614739
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Dystonia, Ataxia, Park...	OMIM:619725
Branchiootic Syndrome 1	Branchial fistula	OMIM:602588
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Decreased nerve conduction velocity, Abnormal CNS myelination, Sensorineural heari...	OMIM:610651
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Bradykinesia, Hemiballismus, Hypertonia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidit...	OMIM:618877
Craniotelencephalic Dysplasia	Optic atrophy, Septo-optic dysplasia	ORPHA:1528
Kufor-Rakeb Syndrome	Bradykinesia, Babinski sign, Hypertonia, Distal sensory impairment, Torticollis, Spasticity, Park...	OMIM:606693
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Hypertonia, Spasticity, Cerebellar atrophy, Cerebral visual impairment, Exaggerated startle respo...	OMIM:618367
Ataxia-Oculomotor Apraxia 3	Distal sensory impairment, Oculomotor apraxia, Peripheral axonal neuropathy, Distal amyotrophy, C...	OMIM:615217
Salt And Pepper Developmental Regression Syndrome	Optic atrophy	OMIM:609056
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Microtia, Low-set ears, Hearing impairment, Horizontal crus of helix, Dext...	OMIM:618619
Spinocerebellar Ataxia Type 19/22	Limb ataxia, Difficulty walking, Impaired vibration sensation at ankles, Broad-based gait, Trunca...	ORPHA:98772
Weaver Syndrome	Hypertonia, Spasticity, Poor fine motor coordination, Diastasis recti, Camptodactyly, Macrotia, L...	OMIM:277590
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Tremor, Wrist flexion contrac...	OMIM:300055
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Cerebral atrophy, Babinski sign, Decreased sensory nerve conduction velocity, Atrophy/Degeneratio...	OMIM:616192
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Recurrent otitis media, Chiari type I malformation, Hypermetropia, Hydrocephalus, Sensorineural h...	OMIM:619575
Diencephalic Syndrome	Optic atrophy	ORPHA:1672
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Inability to walk, Limb hypertonia, Cerebellar atrophy, Cerebral visual impairment, Gait ataxia, ...	OMIM:619580
Hengel-Maroofian-Schols Syndrome	Cerebral atrophy, Abnormal CNS myelination, Gait imbalance, Foot joint contracture, Inability to ...	OMIM:619641
X-Linked Charcot-Marie-Tooth Disease Type 5	Impaired pain sensation, Tremor, Ataxia, Paraparesis	ORPHA:99014
Spastic Paraplegia 2, X-Linked	Optic atrophy	OMIM:312920
Cog7-Cdg	Jaundice, Elevated circulating hepatic transaminase concentration, Brain atrophy, Subcortical cer...	ORPHA:79333
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Glaucoma, Primary Closed-Angle	Increased cup-to-disc ratio	OMIM:618880
Spinocerebellar Ataxia Type 21	Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia,...	ORPHA:98773
Pseudo-Torch Syndrome 2	Elevated circulating hepatic transaminase concentration, Secundum atrial septal defect, Lateral v...	OMIM:617397
Gerstmann-Straussler Disease	Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa...	OMIM:137440
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Aortic valve atresia, Cerebellar vermis hypoplasia, Truncal ataxia, Spasticity, Tremor, Low-set e...	OMIM:220111
Combined Oxidative Phosphorylation Deficiency 14	Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Cerebral cort...	OMIM:614946
Perry Syndrome	Abnormality of extrapyramidal motor function, Tremor, Parkinsonism, Weight loss	ORPHA:178509
Papillorenal Syndrome	Retinal detachment, Macular degeneration, Gliosis, Chorioretinal atrophy, Retinal coloboma, Optic...	OMIM:120330
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Protruding ear, Cerebellar atrophy, Ataxia, Gait disturbance	ORPHA:85317
Leukoencephalopathy With Vanishing White Matter 5	Loss of ambulation, Dilated third ventricle, Lateral ventricle dilatation	OMIM:620315
Autosomal Recessive Malignant Osteopetrosis	Optic nerve compression, Abnormal pulmonary valve morphology, Hydrocephalus, Tremor, Hearing impa...	ORPHA:667
White-Sutton Syndrome	Optic atrophy, Congenital diaphragmatic hernia, Hypermetropia, Facial hypotonia, Sensorineural he...	ORPHA:468678
Spinocerebellar Ataxia With Epilepsy	Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Myoclonus, Dysm...	ORPHA:254881
Fragile X Tremor/Ataxia Syndrome	Bradykinesia, Resting tremor, Poor fine motor coordination, Dysdiadochokinesis, Cerebellar atroph...	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	Cerebral atrophy, Facial hypotonia, Prominent ear helix, Cerebellar atrophy, Low-set ears, Hearin...	OMIM:618659
Alexander Disease Type I	Hydrocephalus, Spasticity, Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, 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, Ataxia, Dysmetria	OMIM:618501
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Optic atrophy, Decreased nerve conduction velocity, Sensory axonal neuropathy, Abnormal periphera...	ORPHA:457205
Bilateral Polymicrogyria	Abnormal glossopharyngeal nerve morphology, Abnormality of masticatory muscle, Spastic hemiparesi...	ORPHA:268940
Branchiogenic Deafness Syndrome	Short stature, Branchial fistula, Branchial cyst	ORPHA:50815
Juvenile Glaucoma	Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal optic nerve mo...	ORPHA:98977
Dihydropyrimidine Dehydrogenase Deficiency	Optic atrophy	OMIM:274270
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Optic disc hypoplasia, Peripheral axonal neuropathy, Colpocephaly, Ag...	OMIM:619955
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Cerebellar vermis hypoplasia, Unilateral wrist flexion contracture, Cerebellar dysplasia, Knee fl...	OMIM:616531
Atypical Juvenile Parkinsonism	Bradykinesia, Resting tremor, Gait ataxia, Involuntary movements, Slowed slurred speech, Rigidity...	ORPHA:391411
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Absent extraocular muscles, Hydrocephalus, Sensorineural hearing impairment, Abnormal auditory ev...	OMIM:109120
Filippi Syndrome	Optic atrophy, Ventricular septal defect, Cerebellar atrophy, Visual impairment	OMIM:272440
Parkinson-Dementia Syndrome	Abnormal pyramidal sign, Rigidity, Tremor, Parkinsonism	OMIM:260540
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Cerebral atrophy, Low-set ears, Dilated third ventricle, Corpus callosum atrophy, Agenesis of cor...	OMIM:619244
Glutathionuria	Action tremor, Dysdiadochokinesis, Tremor	OMIM:231950
Spinocerebellar Ataxia 29	Limb ataxia, Truncal titubation, Broad-based gait, Cerebellar vermis hypoplasia, Cerebellar vermi...	OMIM:117360
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Bradykinesia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, ...	ORPHA:240085
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Optic atrophy	ORPHA:254343
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Cerebral atrophy, Global brain atrophy, Ankle flexion contracture, Inability to walk, Interictal ...	OMIM:617802
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Inability to walk, Limb hypertonia, Hypermetropia, Oculomotor apraxia, Cerebellar vermis atrophy,...	OMIM:618087
Lymphatic Malformation 14	Lymphedema	OMIM:620602
Lymphatic Malformation 2	Lymphedema	OMIM:611944
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Tremor, Intention tremor, Hemiparesis, Ataxia	OMIM:614307
Hsd10 Disease	Tremor, Rigidity, Ataxia, Myoclonus, Spastic paraparesis, Choreoathetosis	ORPHA:391417
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebral atrophy, Cerebellar atrophy, Macrotia, Ventriculomegaly, Amblyopia	OMIM:619797
Gillespie Syndrome	Truncus arteriosus, Cerebellar atrophy, Ataxia, Postural tremor, Cerebellar hypoplasia, Ventricul...	OMIM:206700
Mitochondrial Complex I Deficiency, Nuclear Type 14	Optic atrophy	OMIM:618236
Lissencephaly 6 With Microcephaly	Limb hypertonia, Spasticity, Cerebellar atrophy, Macrotia, Ventriculomegaly, Partial agenesis of ...	OMIM:616212
Spinocerebellar Ataxia Type 26	Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Truncal ataxia, Cerebellar atrophy, Pr...	ORPHA:101112
Spastic Paraplegia 39, Autosomal Recessive	Babinski sign, Distal lower limb muscle weakness, Distal amyotrophy, Atrophy of the spinal cord, ...	OMIM:612020
Bilateral Frontoparietal Polymicrogyria	Cerebral dysmyelination, Gait imbalance, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Ab...	ORPHA:101070
Spinocerebellar Ataxia 8	Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Abnormal pyramidal sign	OMIM:608768
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	High myopia, Cerebellar atrophy, Low-set ears, Cerebral cortical atrophy, Hearing impairment, Pos...	OMIM:617763
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Gliosis	OMIM:604218
Spinocerebellar Ataxia Type 10	Babinski sign, Progressive cerebellar ataxia, Gait imbalance, Lower limb spasticity, Dysdiadochok...	ORPHA:98761
Kaya-Barakat-Masson Syndrome	Cerebral atrophy, Spasticity, Cerebellar atrophy, Cerebral visual impairment, Spastic tetraplegia...	OMIM:619125
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Cerebral atrophy, Optic atrophy, Hypermetropia, Cerebellar vermis hypoplasia, Hydrocephalus, Spas...	OMIM:618590
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Limb fasciculations, Tremor, Distal sensory impairment, Somatic sensory dysfunction	ORPHA:90117
Gabriele-De Vries Syndrome	Tip-toe gait, Facial hypotonia, Patent foramen ovale, Tremor, Low-set ears, Waddling gait, Poster...	OMIM:617557
Adducted Thumbs Syndrome	Myelin-dependent gliosis	OMIM:201550
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebral atrophy, Difficulty walking, Elevated circulating hepatic transaminase concentration, Hy...	OMIM:615356
Parkinson Disease 21	Bradykinesia, Rigidity, Tremor, Parkinsonism	OMIM:616361
Neurocardiofaciodigital Syndrome	Double inlet left ventricle, Cerebellar vermis hypoplasia, Hearing impairment, Dilated fourth ven...	OMIM:619869
Aniridia 2	Optic atrophy	OMIM:617141
Retinitis Pigmentosa 74	Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor	OMIM:616562
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased nerve conduction velocity, Distal sensory impairment, Broad-based gait, Distal amyotrop...	ORPHA:477817
Spinocerebellar Ataxia Type 42	Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Resting tremor, Atrophy/Dege...	ORPHA:458803
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Elevated urine N-acetylaspartic acid level, Cerebellar atrophy, Ataxia, Dysmetria	OMIM:618384
Mannosidosis, Alpha B, Lysosomal	Limb ataxia, Babinski sign, Reduced leukocyte alpha-mannosidase activity, Sensorineural hearing i...	OMIM:248500
Mosaic Trisomy 1	Congenital diaphragmatic hernia, Cerebellar vermis hypoplasia, Abnormal pinna morphology, Elbow f...	ORPHA:1692
Combined Oxidative Phosphorylation Deficiency 51	Optic atrophy	OMIM:619057
Migraine, Familial Hemiplegic, 2	Apraxia, Vertigo, Tremor, Cerebellar atrophy, Episodic ataxia, Gait ataxia, Hemiparesis, Blurred ...	OMIM:602481
Jaberi-Elahi Syndrome	Optic atrophy, Protruding ear, Inability to walk, Broad-based gait, Appendicular spasticity, Dand...	OMIM:617988
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Gliosis	OMIM:221820
Spinocerebellar Ataxia 32	Cerebellar atrophy, Ataxia, Azoospermia	OMIM:613909
Severe Early-Childhood-Onset Retinal Dystrophy	Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d...	ORPHA:364055
Spinocerebellar Ataxia 6	Abnormal vestibulo-ocular reflex, Progressive cerebellar ataxia, Incoordination, Truncal ataxia, ...	OMIM:183086
Developmental And Epileptic Encephalopathy 51	Babinski sign, Inability to walk, Cerebellar atrophy, Corpus callosum atrophy, Cerebral cortical ...	OMIM:617339
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Atrioventricular canal defect, Branchial anomaly, Increased nuchal translu...	ORPHA:453499
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Spastic paraplegia, Failure to thrive, Tremor, Babinski sign	ORPHA:477673
Chromosome 6Q24-Q25 Deletion Syndrome	Atrial septal defect, Dysplastic pulmonary valve, Hydrocephalus, Low-set ears, Mitral valve prola...	OMIM:612863
Brain Dopamine-Serotonin Vesicular Transport Disease	Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Limb dystonia, A...	ORPHA:352649
Coenzyme Q10 Deficiency, Primary, 5	Cerebral atrophy, Hypertonia, Decreased level of coenzyme Q10 in skeletal muscle, Cerebellar atro...	OMIM:614654
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Optic atrophy	ORPHA:477814
Sarcosinemia	Optic atrophy	ORPHA:3129
Hypermanganesemia With Dystonia 2	Cerebral atrophy, Hypomimic face, Babinski sign, Tip-toe gait, Bradykinesia, Scissor gait, Inabil...	OMIM:617013
Adenylosuccinase Deficiency	Cerebral atrophy, Inability to walk, Spasticity, Cerebellar atrophy, Low-set ears, Gait ataxia, C...	OMIM:103050
Spinocerebellar Ataxia Type 32	Progressive cerebellar ataxia, Cerebellar atrophy, Azoospermia	ORPHA:276183
Arima Syndrome	Optic atrophy, Undetectable electroretinogram, Retinal dystrophy, Cerebellar vermis hypoplasia, D...	OMIM:243910
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Ataxia, Titubation, Dysmetria	OMIM:619405
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Sensorineural hearing impairment, Spasticity, Dilated third ventricle...	ORPHA:544488
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Low-set ears, Spastic tetraparesis, Cerebellar atrophy, Posteriorly rotated ears, Ventricular sep...	OMIM:618506
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Steppage gait, Abnormal peripheral nerve morphology by anatomical site, Skeletal muscle atrophy, ...	ORPHA:168563
Neurodegeneration With Brain Iron Accumulation 5	Cerebral atrophy, Bradykinesia, Akinesia, Tremor, Cerebellar atrophy, Abnormal autonomic nervous ...	OMIM:300894
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Inferior cerebellar vermis hypoplasia, Limb hypertonia, Fasciculations, Brain atrophy, Patent for...	OMIM:620327
Congenital Disorder Of Glycosylation, Type Iil	Cerebral atrophy, Optic atrophy, Elevated circulating hepatic transaminase concentration, Elevate...	OMIM:614576
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo...	OMIM:165550
Aicardi Syndrome	Optic atrophy, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Retinal detachment, Choro...	OMIM:304050
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Jaundice, Distal sensory impairment, Broad-based gait, Decreased activity of mitochondrial comple...	OMIM:256810
Spinocerebellar Ataxia 21	Limb ataxia, Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor functio...	OMIM:607454
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Short stature, Ho...	ORPHA:1908
Bainbridge-Ropers Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Hypertonia, Inferior cerebel...	OMIM:615485
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Sensorineural hearing impairment, Abnormality of retinal pigmentation, Cerebellar atrophy, Visual...	ORPHA:3085
Atypical Progressive Supranuclear Palsy Syndrome	Bradykinesia, Oculomotor apraxia, Tremor by anatomical site, Extrapyramidal muscular rigidity, Tr...	ORPHA:99750
Neuronal Intranuclear Inclusion Disease	Rigidity, Tremor, Ataxia, Somatic sensory dysfunction	OMIM:603472
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic atrophy, Sensory axonal neuropathy, Motor axonal neuropathy, Optic disc pallor	OMIM:609541
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Protruding ear, Cerebellar atrophy, Ataxia, Unsteady gait	OMIM:300861
Spinocerebellar Ataxia 26	Limb ataxia, Truncal ataxia, Incoordination, Cerebellar atrophy, Gait ataxia	OMIM:609306
Chromosome 1P36 Deletion Syndrome, Distal	Sensorineural hearing impairment, Microtia, Lateral ventricle dilatation, Delayed CNS myelination...	OMIM:607872
Renal Coloboma Syndrome	Optic nerve dysplasia, Optic disc coloboma, Retinal coloboma	ORPHA:1475
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated circulating hepatic transaminase concentration, Generalized aminoaciduria, Oculomotor ap...	ORPHA:404454
Wildervanck Syndrome	Facial palsy, Pseudopapilledema	ORPHA:3456
Combined Oxidative Phosphorylation Deficiency 37	Optic atrophy, Decreased liver function, Chorioretinal hyperpigmentation, Elevated circulating he...	OMIM:618329
Combined Oxidative Phosphorylation Deficiency 3	Optic atrophy, Concentric hypertrophic cardiomyopathy, Patent foramen ovale, Decreased activity o...	OMIM:610505
Congenital Disorder Of Glycosylation, Type Iii	Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Truncal ataxia, Cerebellar atroph...	OMIM:613612
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cerebral atrophy, Inability to walk, Chorea, Spasticity, Cerebellar atrophy, Gait ataxia	OMIM:618917
Intellectual Developmental Disorder, Autosomal Recessive 68	Protruding ear, Cerebellar atrophy, Hydrocephalus	OMIM:618302
16Q24.3 Microdeletion Syndrome	Chronic otitis media, Protruding ear, Optic nerve hypoplasia, Hearing impairment, Colpocephaly, M...	ORPHA:261250
Lymphatic Malformation 7	Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc...	OMIM:617300
Late-Onset Retinal Degeneration	Drusen, Choroidal neovascularization, Patchy atrophy of the retinal pigment epithelium, Macular d...	ORPHA:67042
Noonan Syndrome 14	Low-set ears, Scapular winging, Hypertrophic cardiomyopathy, Pulmonic stenosis, Posteriorly rotat...	OMIM:619745
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Bradykinesia, Resting tremor, Rigidity, Dystonia, Parkinsonism, Clumsiness, Postural tremor	OMIM:619911
Mitochondrial Complex I Deficiency, Nuclear Type 8	Optic disc pallor	OMIM:618230
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Gait disturbance, Unsteady gait, Ataxia, Aplasia/Hypoplasia of the cerebellum	ORPHA:2585
Retinitis Pigmentosa And Erythrocytic Microcytosis	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Retinal atrophy...	OMIM:616959
Saccharopinuria	Tremor, Distal sensory impairment, Spastic diplegia, Gait ataxia	ORPHA:3124
X-Linked Intellectual Disability, Wilson Type	Delayed myelination, Lateral ventricle dilatation	ORPHA:85290
Episodic Ataxia, Type 2	Progressive cerebellar ataxia, Cerebellar vermis atrophy, Diplopia, Vertigo, Abnormal vestibular ...	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	Cerebral atrophy, Macroglossia, Cerebellar atrophy, Ataxia	OMIM:618729
Cockayne Syndrome Type 1	Optic atrophy, Difficulty walking, Elevated circulating hepatic transaminase concentration, Photo...	ORPHA:90321
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1173
Dystonia 1, Torsion, Autosomal Dominant	Babinski sign, Hypertonia, Oromandibular dystonia, Writer's cramp, Torticollis, Torsion dystonia,...	OMIM:128100
Spastic Tetraplegia And Axial Hypotonia, Progressive	Babinski sign, Hypertonia, Lower limb spasticity, Fasciculations, Low-set ears, Spastic tetrapare...	OMIM:618598
Sporadic Creutzfeldt-Jakob Disease	Astrocytosis, Gliosis	ORPHA:204
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Bradykinesia, Resting tremor, Parkinsonism, Rigidity	OMIM:614251
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity	Cherry red spot of the macula, Optic disc pallor	OMIM:615281
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Hyperkinetic movements, Interictal epileptiform activity, Neuronal loss in central nervous system...	OMIM:300243
Madras Motor Neuron Disease	Optic atrophy, Facial palsy	ORPHA:137867
Schindler Disease, Type I	Optic atrophy	OMIM:609241
Leukodystrophy, Hypomyelinating, 20	Babinski sign, Hypertonia, Torticollis, Cerebellar atrophy, Spastic tetraplegia	OMIM:619071
Leukoencephalopathy With Calcifications And Cysts	Spasticity, Tremor, Dystonia, Ataxia, Abnormal pyramidal sign	ORPHA:542310
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Babinski sign, Truncal ataxia, Spasticity, Cerebellar atrophy, Cerebral visual impairment, Myoclo...	OMIM:301072
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Optic atrophy, Fasciculations, Tetraplegia, Progressive spasticity, Cerebellar atrophy, Cataplexy...	ORPHA:496641
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Optic atrophy, Cerebellar atrophy, Intention tremor, Hypoplasia of the pons, CNS hypomyelination,...	OMIM:619708
Spinocerebellar Ataxia, Autosomal Recessive 11	Limb ataxia, Cerebellar vermis atrophy, Truncal ataxia, Cerebellar atrophy, Gait disturbance, Ataxia	OMIM:614229
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Cerebellar cortical atrophy, Low-set, posteriorly rotated ears, Limb hypertonia, H...	ORPHA:521426
Chromosome 16Q12 Duplication Syndrome	Retinal pigment epithelial mottling, Central thinning of the outer nuclear layer of the retina, T...	OMIM:619649
Lissencephaly Syndrome, Norman-Roberts Type	Patent foramen ovale, Low-set ears, Cerebellar atrophy, Agenesis of corpus callosum, Abnormal ret...	ORPHA:89844
Parkinson Disease 14, Autosomal Recessive	Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Axial dystonia, Resting tremor, Ankle clonus...	OMIM:612953
Takenouchi-Kosaki Syndrome	Optic atrophy, Sensorineural hearing impairment, Cerebellar atrophy, Low-set ears, Camptodactyly,...	OMIM:616737
Spinocerebellar Ataxia 47	Cerebellar vermis atrophy, Chorea, Spasticity, Low-set ears, Ataxia, Dysmetria, Diplopia	OMIM:617931
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Hypertonia, Impaired tactile sensation, Tremor, Gait ataxia, Ataxia, Myoclonus	OMIM:619092
Leukodystrophy, Hypomyelinating, 19, Transient Infantile	Optic atrophy	OMIM:618688
Neurodegeneration With Brain Iron Accumulation 2B	Cerebral atrophy, Optic atrophy, Babinski sign, Hypertonia, Bradykinesia, Chorea, Spasticity, Dys...	OMIM:610217
Neuronal Intranuclear Inclusion Disease	Optic atrophy	ORPHA:2289
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Cerebral atrophy, Hydrocephalus, Low-set ears, Congenital contracture, Colpocephaly, Agenesis of ...	OMIM:620156
Optic Pathway Glioma	Optic atrophy, Papilledema, Neurofibroma	ORPHA:2086
Sneddon Syndrome	Chorea, Hemiparesis, Tremor	ORPHA:820
Basal Ganglia Disease, Biotin-Thiamine Responsive	Babinski sign, Hypertonia, Truncal titubation, Chorea, Craniofacial dystonia, Frequent falls, Gai...	OMIM:607483
Spinocerebellar Ataxia Type 7	Cerebral atrophy, Babinski sign, Visual loss, Abnormal fundus morphology, Photophobia, Macular de...	ORPHA:94147
Cockayne Syndrome	Cerebral dysmyelination, Elevated circulating hepatic transaminase concentration, Demyelinating p...	ORPHA:191
Arthrogryposis, Distal, Type 2A	Flexion contracture of toe, Shoulder flexion contracture, Elbow flexion contracture, Cerebellar a...	OMIM:193700
Huppke-Brendel Syndrome	Cerebral atrophy, Inability to walk, Cerebellar atrophy, Hearing impairment, CNS hypomyelination	OMIM:614482
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:268315
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Facial edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites...	OMIM:265300
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor	OMIM:619170
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Blepharospasm, Ataxia, Myoclonus	OMIM:607876
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Diffuse cerebellar atrophy, Progressi...	ORPHA:247815
Riboflavin Transporter Deficiency	Abnormal cranial nerve morphology, Abnormality of macular pigmentation, Facial palsy, Abnormal au...	ORPHA:97229
Spastic Paraplegia 9B, Autosomal Recessive	Babinski sign, Tetraplegia, Tremor, Spasticity, Impaired distal vibration sensation, Spastic para...	OMIM:616586
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Cerebellar vermis atrophy, Abnormal pinna morphology, Tremor, Gait ataxia, Distal lower limb amyo...	OMIM:300354
Isolated Complex I Deficiency	Sensorineural hearing impairment, Decreased activity of mitochondrial complex I, Blindness, Abnor...	ORPHA:2609
Atypical Rett Syndrome	Pill-rolling tremor, Apraxia, Impaired pain sensation, Spasticity, Tremor, Gait ataxia, Involunta...	ORPHA:3095
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Cerebral atrophy, Cerebellar vermis atrophy, Low-set ears, CNS hypomyelination, Posteriorly rotat...	OMIM:615760
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Facial palsy	OMIM:615085
Amish Nemaline Myopathy	Shoulder flexion contracture, Hip contracture, Tremor	ORPHA:98902
Juvenile Paget Disease	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2801
Zika Virus Disease	Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Absent foveal refle...	ORPHA:448237
Pyruvate Dehydrogenase Deficiency	Multiple lipomas, Spasticity, Tremor, Cerebral palsy, Dystonia, Ataxia, Abnormal pyramidal sign, ...	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, Optic nerve compression, Hydrocephalus, Lateral ventricle dilatation, Progressive ...	OMIM:612301
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Apraxia, Neuronal loss in central nervous system, Cerebral cortical atrophy, Parkinsonism, Latera...	OMIM:607485
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Hypertonia, Truncal titubation, Limb hypertonia, Tremor, Cerebellar atrophy, Exaggerated startle ...	OMIM:618056
Ataxia-Telangiectasia-Like Disorder 2	Congenital diaphragmatic hernia, Photophobia, Sensorineural hearing impairment, Cerebellar atroph...	OMIM:615919
D-Bifunctional Protein Deficiency	Undetectable electroretinogram, Decreased nerve conduction velocity, Visual loss, Elevated circul...	OMIM:261515
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor	ORPHA:3173
Spinocerebellar Ataxia 4	Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Cerebellar atrophy, Limb...	OMIM:600223
Spinocerebellar Ataxia, Autosomal Recessive 28	Optic atrophy	OMIM:618800
Developmental And Epileptic Encephalopathy 46	Failure to thrive, Tremor, Limb hypertonia	OMIM:617162
Branchiootic Syndrome	Branchial fistula	ORPHA:52429
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Cerebral atrophy, Babinski sign, Hypermetropia, Restrictive cardiomyopathy, Cerebellar atrophy, C...	OMIM:615398
Hyperphenylalaninemia, Bh4-Deficient, B	Hyperkinetic movements, Limb hypertonia, Tremor, Rigidity, Dystonia, Choreoathetosis	OMIM:233910
Kanzaki Disease	Cerebral atrophy, Distal sensory impairment, Axonal degeneration, Peripheral axonal neuropathy, S...	OMIM:609242
Holoprosencephaly	Encephalocele, Hydrocephalus, Branchial anomaly, Holoprosencephaly, Tetralogy of Fallot, Short ne...	ORPHA:2162
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Eyelid myoclonus, Oculomotor apraxia, Incoordination, Tremor, Ataxia, Abnormal pyramidal sign	OMIM:618060
Familial Infantile Bilateral Striatal Necrosis	Basal ganglia gliosis, Astrocytosis, Optic atrophy	ORPHA:225154
Alpha-Mannosidosis, Infantile Form	Mixed hearing impairment, Hypermetropia, Facial hypotonia, Sensorineural hearing impairment, Abno...	ORPHA:309282
Chromosome 19P13.13 Deletion Syndrome	Optic atrophy, Optic nerve hypoplasia	OMIM:613638
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:598500
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Retinal dystrophy	ORPHA:49827
Microcephaly, Amish Type	Optic atrophy, Hypoplasia of the fovea	OMIM:607196
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic atrophy, Dysplastic corpus callosum, Global brain atrophy, Protruding ear, Hypermetropia, O...	ORPHA:500150
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy	OMIM:249270
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Optic atrophy	ORPHA:1154
Mevalonic Aciduria	Cerebral atrophy, Elevated circulating hepatic transaminase concentration, Progressive cerebellar...	OMIM:610377
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Fasciculations, Impaired pain sensation, Tremor, Impaired distal ...	OMIM:619574
Cystathioninuria	Tremor	ORPHA:212
Spinocerebellar Ataxia Type 8	Bradykinesia, Limb ataxia, Spastic dysarthria, Cerebellar vermis atrophy, Spasticity, Cerebellar ...	ORPHA:98760
Tremor, Nystagmus, And Duodenal Ulcer	Kinetic tremor, Tremor	OMIM:190310
Leukodystrophy, Hypomyelinating, 22	Optic disc pallor	OMIM:619328
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Facial palsy, Optic disc pallor	OMIM:611490
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Cerebral atrophy, Inability to walk, Chorea, Cerebellar atrophy, Low-set ears, Involuntary moveme...	OMIM:617804
Ddost-Cdg	Failure to thrive, Tremor, Lipodystrophy, Oromotor apraxia	ORPHA:300536
Leber Congenital Amaurosis 15	Constriction of peripheral visual field, Color vision defect, Photophobia, Hypermetropia, Hemeral...	OMIM:613843
Bor Syndrome	Branchial cyst	ORPHA:107
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Hypsarrhythmia, Choroid plexus cyst, Underdeveloped antitragus, Posteriorly rotated ears, Lateral...	ORPHA:293725
Inherited Creutzfeldt-Jakob Disease	Bradykinesia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Spastic hemipares...	ORPHA:282166
Woods Syndrome	Optic atrophy	OMIM:615236
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Macular degeneration, Cerebellar atrophy, Involuntary movements, Myoclonus, Abnormal pyramidal si...	OMIM:619780
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Cerebral atrophy, Limb hypertonia, Interictal epileptiform activity, Hippocampal atrophy, Cerebel...	OMIM:618922
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Cerebral atrophy, Cerebellar atrophy, Leukodystrophy, Delayed CNS myelination	OMIM:620269
Angioedema, Hereditary, 1	Peripheral axonal neuropathy, Hypoesthesia, Axonal degeneration	OMIM:106100
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Cerebellar vermis hypoplasia, P...	OMIM:620642
Congenital Muscular Dystrophy, Fukuyama Type	Optic atrophy, Retinal dysplasia	ORPHA:272
Arts Syndrome	Optic atrophy	OMIM:301835
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Mitochondrial Complex I Deficiency, Nuclear Type 18	Optic disc pallor	OMIM:618240
Proximal Myopathy With Extrapyramidal Signs	Optic atrophy, Peripheral axonal neuropathy	ORPHA:401768
Non-Specific Early-Onset Epileptic Encephalopathy	Limb hypertonia, Spasticity, Tremor, Involuntary movements, Failure to thrive, Rigidity, Abnormal...	ORPHA:442835
Microphthalmia/Coloboma 12	Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal coloboma, Optic disc ...	OMIM:120200
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Jaundice, Abnormal helix morphology, Camptodactyly, Abnormal heart morphol...	OMIM:214110
X-Linked Intellectual Disability, Najm Type	Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma	ORPHA:163937
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Cerebral atrophy, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Ab...	OMIM:268020
Coloboma, Ocular, Autosomal Recessive	Optic disc coloboma, Retinal coloboma	OMIM:216820
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Cerebral atrophy, Inability to walk, Spasticity, Cerebellar atrophy, Cerebral visual impairment, ...	OMIM:618443
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:300578
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Bicuspid aortic valve, Patent foramen ovale, Cerebellar atrophy, Low-set ears, Macrotia, Partial ...	ORPHA:329224
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Gliosis	OMIM:608033
Spastic Paraplegia Type 2	Optic atrophy	ORPHA:99015
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Global brain atrophy, Cardiomegaly, Inability to walk, High myopia, Truncal ataxia, Cerebellar at...	OMIM:620066
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Tremor, Obesity, Parkinsonism	ORPHA:3077
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Branchiootorenal Syndrome 1	Branchial fistula, Branchial cyst	OMIM:113650
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic nerve hypoplasia, Cerebellar atrophy, Olivopontocerebellar hypoplasia, Attenuation of retin...	ORPHA:468631
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Cerebral atrophy, Spasticity, Cerebellar atrophy, Low-set ears, CNS hypomyelination	OMIM:619286
Khan-Khan-Katsanis Syndrome	Hypertonia, Cerebellar vermis hypoplasia, Sensorineural hearing impairment, Patent foramen ovale,...	OMIM:618460
Lissencephaly, X-Linked, 2	Gliosis	OMIM:300215
Prader-Willi Syndrome Due To Translocation	Hypermetropia, Patent foramen ovale, Cerebral visual impairment, Cerebral cortical atrophy, Abnor...	ORPHA:177907
Alg1-Cdg	Cerebral atrophy, Decreased liver function, Cardiomyopathy, Cerebellar atrophy, Abnormal heart mo...	ORPHA:79327
Familial Infantile Myoclonic Epilepsy	Cerebellar atrophy, Blepharospasm, Interictal EEG abnormality, Gait disturbance, Limb myoclonus, ...	ORPHA:352582
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Dysgenesis of the cerebellar vermis, Low-set ears, Posteriorly rotated ears, Flexion contracture,...	OMIM:619479
Craniorachischisis	Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida	ORPHA:63260
Classic Pantothenate Kinase-Associated Neurodegeneration	Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy	ORPHA:216866
Short Stature-Micrognathia Syndrome	Skeletal muscle hypertrophy, Cerebellar atrophy, Gait ataxia, Ataxia, Myopia, Ventricular septal ...	OMIM:617164
Biotinidase Deficiency	Optic atrophy, Decreased circulating biotinidase concentration, Visual loss, Sensorineural hearin...	OMIM:253260
Sneddon Syndrome	Hemiplegia, Atrophic scars, Tremor, Impaired distal tactile sensation	OMIM:182410
Stt3B-Cdg	Optic atrophy, Cerebellar atrophy	ORPHA:370924
Trichothiodystrophy	Cerebral dysmyelination, Cardiomyopathy, Gait ataxia, Myopia, Ventriculomegaly, Paraplegia/parapa...	ORPHA:33364
Achromatopsia 2	Retinal thinning, Peripapillary atrophy, Hypoplasia of the fovea, Absent foveal reflex, Dull fove...	OMIM:216900
Congenital Disorder Of Glycosylation, Type Ix	Optic atrophy, Cerebellar atrophy	OMIM:615597
Helsmoortel-Van Der Aa Syndrome	Hypermetropia, Facial palsy, Low-set ears, Abnormal heart morphology, Posteriorly rotated ears, M...	OMIM:615873
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Babinski sign, Positive Romberg sign, Dysdiadochokinesis, Cerebellar atrophy, Interictal EEG abno...	OMIM:301310
Hypermanganesemia With Dystonia 1	Bradykinesia, Abnormality of extrapyramidal motor function, Poor fine motor coordination, Tremor,...	OMIM:613280
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Optic atrophy, Sensorineural hearing impairment, Spasticity, Cataplexy, Cerebellar atrophy, Ataxia	OMIM:604121
Intellectual Developmental Disorder, X-Linked 12	Gliosis	OMIM:300957
Distal 22Q11.2 Microdeletion Syndrome	Truncus arteriosus, Short stature, Growth delay, Intrauterine growth retardation, Atrial septal d...	ORPHA:261330
Autosomal Dominant Optic Atrophy And Cataract	Optic atrophy, Tritanomaly, Central scotoma, Resting tremor, Positive Romberg sign, Red-green dys...	ORPHA:67036
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Gliosis, Absent brainstem auditory responses	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, Facial palsy, Cerebellar atrophy, Cerebr...	OMIM:610131
Aromatic L-Amino Acid Decarboxylase Deficiency	Babinski sign, Oculogyric crisis, Limb hypertonia, Tremor, Failure to thrive, Dystonia, Joint con...	ORPHA:35708
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Fasciculations, Tremor	OMIM:313200
Galloway-Mowat Syndrome 1	Cerebral atrophy, Optic atrophy, Dandy-Walker malformation, Spasticity, Cerebellar atrophy, Low-s...	OMIM:251300
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Gliosis	ORPHA:457240
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Retinal dystrophy, Hypermetropia, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Atr...	OMIM:263520
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Muscular dystrophy, Retinal dysplasia, Retinal detachment, Dandy-Walker malformati...	OMIM:236670
Triple A Syndrome	Optic atrophy, Motor axonal neuropathy	ORPHA:869
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Chronic otitis media, Protruding ear, Gait imbalance, Cerebellar vermis hypoplasia, Spasticity, T...	OMIM:300966
Congenital Disorder Of Glycosylation, Type Iim	Cerebral atrophy, Hypsarrhythmia, Lateral ventricle dilatation, Delayed CNS myelination, Cerebell...	OMIM:300896
Spontaneous Periodic Hypothermia	Tremor, Ataxia	ORPHA:29822
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Shoulder flexion contracture, Hip contracture, Tremor	OMIM:605355
3-Methylglutaconic Aciduria Type 7	Cerebral atrophy, Hypertonia, Elevated circulating hepatic transaminase concentration, Abnormalit...	ORPHA:445038
Retinitis Pigmentosa	Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Abn...	ORPHA:791
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Hypermetropia, Low-set ears, Mitral stenosis, Posteriorly rotated ears, Colpocephaly, Agenesis of...	OMIM:617260
Cadds	Sensorineural hearing impairment, Elevated circulating hepatic transaminase concentration, Cerebe...	ORPHA:369942
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Scholte Syndrome	Abnormal pyramidal sign, Cerebellar atrophy	OMIM:300977
Neurodegeneration And Seizures Due To Copper Transport Defect	Cerebral atrophy, Limb hypertonia, Cerebellar atrophy, Cerebral visual impairment, Cardiomegaly, ...	OMIM:620306
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Inability to walk, Cerebellar vermis hypoplasia, Small earlobe, Low-set ears, Colpocephaly, Ataxi...	OMIM:620083
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Peripheral hypomyelination, Chronic axonal neuropathy, Sensorineural hearing impairment, Dysdiado...	OMIM:612780
Parkinson Disease 8, Autosomal Dominant	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri...	OMIM:607060
Oligomeganephronia	Hypertension, Branchial cyst	ORPHA:2260
Idiopathic Intracranial Hypertension	Papilledema	ORPHA:238624
Cimdag Syndrome	Cerebral atrophy, Pontocerebellar atrophy, Retinal dystrophy, Cerebellar vermis hypoplasia, Senso...	OMIM:619273
Congenital Disorder Of Glycosylation, Type Iie	Cerebral atrophy, Decreased liver function, Perimembranous ventricular septal defect, Jaundice, S...	OMIM:608779
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Agenesis of corpus callosum, Lateral ventricle dilatation, Myopia, D...	OMIM:300952
Galloway-Mowat Syndrome 9	Cerebellar atrophy, Low-set ears, Cerebral cortical atrophy, Macrotia, Ventriculomegaly, Choreoat...	OMIM:619603
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, High myopia, Histiocytoid cardiomyopathy, Hydrocephalus, Hearing...	OMIM:309801
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Branchial anomaly, Increased nuchal translucency, Growth delay, Abnormal heart morphology, Cystic...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Branchial anomaly, Increased nuchal translucency, Growth delay, Abnormal heart morphology, Cystic...	ORPHA:352665
Congenital Disorder Of Glycosylation, Type Il	Cerebral atrophy, Global brain atrophy, Cerebellar atrophy, Low-set ears, Pericardial effusion, D...	OMIM:608776
Isolated Posterior Meningocele	Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele, Limi...	ORPHA:268810
Adult-Onset Cervical Dystonia, Dyt23 Type	Difficulty walking, Torticollis, Cerebellar atrophy, Head tremor, Cerebral cortical atrophy, Limb...	ORPHA:420492
Spinocerebellar Ataxia 27A	Abnormal vestibulo-ocular reflex, Limb ataxia, Cerebellar atrophy, Gait ataxia, Postural tremor, ...	OMIM:193003
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Painless fractures due to injury, Decreased sensory nerve conduction velocity, Decreased nerve co...	OMIM:201300
Joubert Syndrome 8	Pigmentary retinopathy, Optic disc pallor	OMIM:612291
Trisomy 10P	Low voltage EEG, Dandy-Walker malformation, EEG with focal spikes, Abnormal auditory evoked poten...	ORPHA:171929
Infantile Refsum Disease	Optic atrophy, Facial palsy, Rod-cone dystrophy	ORPHA:772
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Periodic paralysis, Tremor, Weight loss	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	Muscular ventricular septal defect, Cerebellar vermis hypoplasia, Shoulder flexion contracture, M...	OMIM:210710
Chédiak-Higashi Syndrome	Decreased liver function, Decreased nerve conduction velocity, Elevated circulating hepatic trans...	ORPHA:167
Short Stature, Microcephaly, And Endocrine Dysfunction	Apraxia, Broad-based gait, Sensory axonal neuropathy, Cerebellar vermis atrophy, Sensorineural he...	OMIM:616541
Biliary, Renal, Neurologic, And Skeletal Syndrome	Frontotemporal cerebral atrophy, Inlet ventricular septal defect, Prolonged neonatal jaundice, La...	OMIM:619534
Bohring-Opitz Syndrome	Dandy-Walker malformation, Low-set ears, Camptodactyly, Abnormal optic nerve morphology, Posterio...	OMIM:605039
Friedreich Ataxia 2	Babinski sign, Decreased pyruvate carboxylase activity, Concentric hypertrophic cardiomyopathy, I...	OMIM:601992
Fuchs Heterochromic Iridocyclitis	Vitreous floaters, Chorioretinal scar, Optic disc pallor, Epiretinal membrane, Papilledema, Retin...	ORPHA:263479
Hyperostosis Cranialis Interna	Optic atrophy, Facial palsy	OMIM:144755
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Hypertonia, Tremor, Spasticity, Rigidity	OMIM:176500
Wolfram Syndrome 2	Optic atrophy, Optic neuropathy	OMIM:604928
Bilateral Perisylvian Polymicrogyria	Limb hypertonia, Abnormality of masticatory muscle, Cerebellar vermis hypoplasia, EEG with polysp...	ORPHA:98889
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Optic atrophy, Low-set, posteriorly rotated ears, Dandy-Walker malformation, Cerebellar atrophy, ...	ORPHA:487796
Developmental And Epileptic Encephalopathy 4	Spastic paraplegia, Tremor, Spastic tetraplegia, Choreoathetosis	OMIM:612164
Abcd Syndrome	Aganglionic megacolon, Total intestinal aganglionosis, Abnormal auditory evoked potentials, Heari...	OMIM:600501
Cancer-Associated Retinopathy	Constriction of peripheral visual field, Optic atrophy, Granular macular appearance, Adult-onset ...	ORPHA:71505
Classic Progressive Supranuclear Palsy Syndrome	Bradykinesia, Axial dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism with fav...	ORPHA:240071
Spongiform Encephalopathy With Neuropsychiatric Features	Gliosis	OMIM:606688
Ataxia-Oculomotor Apraxia 4	Oculomotor apraxia, Atrophy/Degeneration affecting the brainstem, Tetraplegia, Cerebellar atrophy...	OMIM:616267
Distal 22Q11.2 Microduplication Syndrome	Tricuspid valve prolapse, Webbed neck, Hydrocephalus, Low posterior hairline, Ventricular septal ...	ORPHA:261337
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Sensorineural hearing impairment, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morpho...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Sensorineural hearing impairment, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morpho...	ORPHA:261552
Immunodeficiency 114, Folate-Responsive	Cerebral atrophy, Cerebellar atrophy, Delayed CNS myelination	OMIM:620603
3-Methylglutaconic Aciduria, Type Viib	Cerebral atrophy, Hyperkinetic movements, Spasticity, Tremor, Cerebellar atrophy, Ataxia, Flexion...	OMIM:616271
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic corpus callosum, Hypermetropia, High myopia, Dysplastic pulmonary valve, Cerebellar at...	OMIM:619103
Perry Syndrome	Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Weight loss	OMIM:168605
Norrie Disease	Optic atrophy, Retinal detachment, Retinal dysplasia, Retinal fold	OMIM:310600
Aceruloplasminemia	Limb ataxia, Torticollis, Chorea, Tremor, Blepharospasm, Craniofacial dystonia, Gait ataxia, Invo...	ORPHA:48818
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Difficulty walking, Low-set, posteriorly rotated ears, Hypermetropia, Cerebellar vermis hypoplasi...	ORPHA:480880
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Cerebral atrophy, Generalized limb muscle atrophy, Broad-based gait, Poor coordination, Dysdiadoc...	OMIM:618891
Myopathy, Mitochondrial, And Ataxia	Limb ataxia, Distal sensory impairment, Truncal ataxia, Dysdiadochokinesis, Tremor, Ataxia, Multi...	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	Muscular dystrophy, Cerebellar cyst, Hypermetropia, Skeletal muscle hypertrophy, Hydrocephalus, C...	OMIM:613150
Developmental And Epileptic Encephalopathy 89	Cerebral atrophy, Hypertonia, Hyperkinetic movements, Asymmetry of the ears, Hypsarrhythmia, Spas...	OMIM:619124
Amyloidosis, Hereditary, Transthyretin-Related	Limb ataxia, Paraplegia, Truncal ataxia, Spasticity, Tremor, Positive Romberg sign, Intention tre...	OMIM:105210
Combined Oxidative Phosphorylation Deficiency 7	Optic atrophy, Facial diplegia, Facial paralysis	OMIM:613559
Knobloch Syndrome 1	Cerebral atrophy, High myopia, Retinal detachment, Chorioretinal atrophy, Vitreoretinopathy, Cere...	OMIM:267750
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Short stature, Aortic valve stenosis, Mitral stenosis, Spinal dysraphism, Atrial septal defect, H...	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	Cerebral atrophy, Congenital diaphragmatic hernia, Spasticity, Tremor, Cerebellar atrophy, Overfo...	OMIM:614080
Shukla-Vernon Syndrome	Cerebellar atrophy, Broad-based gait	OMIM:301029
Cntnap2-Related Developmental And Epileptic Encephalopathy	Lower limb spasticity, Interictal epileptiform activity, Cerebellar vermis atrophy, EEG with foca...	ORPHA:163681
Combined Oxidative Phosphorylation Deficiency 25	Cerebral atrophy, Sensorineural hearing impairment, Cerebellar atrophy, Low-set ears, Hypoplasia ...	OMIM:616430
Fetal Cytomegalovirus Syndrome	Optic atrophy, Chorioretinitis, Retinal hemorrhage	ORPHA:294
Mucopolysaccharidosis, Type Iiid	Recurrent otitis media, Difficulty walking, Elbow flexion contracture, Cerebellar atrophy, Low-se...	OMIM:252940
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Intrahepatic cholestasis, High myopia, Cerebellar atrophy, Elevated circulating alanine aminotran...	OMIM:619685
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Galloway-Mowat Syndrome 10	Cerebral atrophy, Delayed CNS myelination, Cerebellar atrophy, Myoclonus	OMIM:619609
Leukodystrophy, Progressive, Early Childhood-Onset	Optic disc pallor	OMIM:617762
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Cerebral atrophy, Elbow flexion contracture, Cerebellar atrophy, Camptodactyly, Congenital contra...	OMIM:616266
Cerebral Visual Impairment	Optic atrophy, Optic nerve hypoplasia, Increased cup-to-disc ratio, Retinopathy of prematurity, O...	ORPHA:447788
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Limb ataxia, Broad-based gait, Cerebellar vermis atrophy, Truncal ataxia, Low-set ears, Overfolde...	OMIM:617101
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Chorea, Spasticity, Ventriculomegaly, Hepatitis	ORPHA:1855
Orofaciodigital Syndrome Type 14	Low-set, posteriorly rotated ears, Dandy-Walker malformation, Dilated third ventricle, Retinal co...	ORPHA:434179
Meckel Syndrome, Type 1	Hydrocephalus, Dandy-Walker malformation, Low-set ears, Dilated fourth ventricle, Camptodactyly o...	OMIM:249000
Fragile X-Associated Tremor/Ataxia Syndrome	Bradykinesia, Dysesthesia, Abnormal autonomic nervous system physiology, Gait disturbance, Gait a...	ORPHA:93256
Niemann-Pick Disease Type C	Abnormal CNS myelination, Chorea, Demyelinating peripheral neuropathy, Ataxia, Myoclonus, Clumsin...	ORPHA:646
Holoprosencephaly 14	Aqueductal stenosis, Subependymal cysts, Aortic valve atresia, Hydrocephalus, Dandy-Walker malfor...	OMIM:619895
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Flexion contracture of toe, Microtia, Patent foramen ovale, Cerebellar atrophy, Overfolded helix,...	ORPHA:280633
Scalp-Ear-Nipple Syndrome	Small earlobe, Microtia, Underdeveloped tragus, Low-set ears, Underdeveloped antitragus, Antevert...	OMIM:181270
Holoprosencephaly 13, X-Linked	Optic nerve hypoplasia, Microtia, Patent foramen ovale, Low-set ears, Septo-optic dysplasia, Hear...	OMIM:301043
Galloway-Mowat Syndrome 3	Cerebral atrophy, Spasticity, Cerebellar atrophy, Low-set ears, Camptodactyly, Ventriculomegaly, ...	OMIM:617729
Parkinson Disease, Late-Onset	Bradykinesia, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism	OMIM:168600
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Exencephaly, Encephalocele	ORPHA:2211
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Sensorineural hearing impairment, Demyelinating peripheral neuropathy, Cerebellar atrophy, Skelet...	OMIM:616263
Osteopetrosis, Autosomal Recessive 9	Papilledema	OMIM:620366
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Atrial septal defect, Global brain atrophy, EEG with spike-wave complexes, Hypermetropia, Restric...	ORPHA:369837
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Babinski sign, Spasticity, Tremor, Spastic paraplegia, Ataxia, Dysmetria	OMIM:618527
Keppen-Lubinsky Syndrome	Hypertonia, Spastic tetraparesis, Opisthotonus, Flexion contracture, Lateral ventricle dilatation	OMIM:614098
Familial Acute Necrotizing Encephalopathy	Gliosis	ORPHA:88619
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology	ORPHA:2715
47,Xyy Syndrome	Congenital stationary night blindness, Dysgenesis of the cerebellar vermis, Azoospermia, Hydrocep...	ORPHA:8
Mend Syndrome	Limb hypertonia, Hydrocephalus, Dandy-Walker malformation, Low-set ears, Abnormal auditory evoked...	ORPHA:401973
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Patent foramen ovale, Low-set ears, Posteriorly rotated ears, Colpocephaly, Agenesis of corpus ca...	OMIM:620113
Adult-Onset Dystonia-Parkinsonism	Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic medication, Tremor...	ORPHA:199351
Intellectual Developmental Disorder, Autosomal Dominant 62	Cerebellar vermis atrophy	OMIM:618793
Early Infantile Epileptic Encephalopathy	EEG with spike-wave complexes, Hypsarrhythmia, Spasticity, Uni- and bilateral multifocal epilepti...	ORPHA:1934
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Babinski sign, Hypermetropia, Hydrocephalus, Tetraparesis, Spasticity, Cerebellar atrophy, Retina...	OMIM:175780
O'Sullivan-Mcleod Syndrome	Fasciculations, Tremor	ORPHA:99965
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Hypertonia, Tremor, Opisthotonus	OMIM:250800
Kleefstra Syndrome Due To A Point Mutation	Gliosis	ORPHA:261652
Acute Bilirubin Encephalopathy	Hypertonia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Cerebral palsy...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypertonia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Cerebral palsy...	ORPHA:529808
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Cerebellar atrophy, Reduced visual acuity, Delayed CNS myelination	OMIM:618541
Oxoglutaric Aciduria	Hypertonia, Abnormality of Krebs cycle metabolism, Hydrocephalus, Ataxia, Skeletal muscle atrophy	ORPHA:31
8Q24.3 Microdeletion Syndrome	Atrioventricular canal defect, Spina bifida occulta, Truncus arteriosus, Branchial cyst, Dysplast...	ORPHA:508488
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic atrophy, Optic disc pallor, Pigmentary retinopathy	OMIM:617282
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Enlarged cerebellum, Oculomotor apraxia, Patent foramen ovale, Clonus, Delayed myelination, Lower...	ORPHA:477993
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Optic nerve dysplasia, Muscular dystrophy, Retinal dysplasia, Hydrocephalus, Dandy-Walker malform...	OMIM:615287
Autosomal Dominant Spastic Paraplegia Type 9A	Spastic gait, Babinski sign, Spastic dysarthria, Abnormality of pain sensation, Impaired vibratio...	ORPHA:447753
Parkinson Disease 20, Early-Onset	Bradykinesia, Tremor, Involuntary movements, Rigidity, Dystonia, Parkinsonism, Eyelid apraxia	OMIM:615530
6Q Terminal Deletion Syndrome	Low-set, posteriorly rotated ears, Hypermetropia, Hypsarrhythmia, Gait ataxia, Colpocephaly, Cere...	ORPHA:75857
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Babinski sign, Gait imbalance, Oculomotor apraxia, Cerebellar vermis atrophy, Head tremor, Ataxia...	ORPHA:64753
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Patent foramen ovale, Short stature, Natal tooth, Right ventricular hypertrophy, Intrauterine gro...	OMIM:620186
Multiple Sulfatase Deficiency	Optic atrophy, Abnormality of retinal pigmentation, Abnormality of peripheral nerve conduction	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	Optic atrophy, Decreased nerve conduction velocity, Rod-cone dystrophy, Retinal dystrophy	OMIM:614863
Multiple Acyl-Coa Dehydrogenase Deficiency	Gliosis	ORPHA:26791
Hypotonia, Ataxia, And Delayed Development Syndrome	Broad-based gait, Cerebellar vermis hypoplasia, Small earlobe, Truncal ataxia, Cerebellar atrophy...	OMIM:617330
Congenital Primary Aphakia	Retinal detachment, Optic disc coloboma, Retinal dysplasia	ORPHA:83461
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Oculomotor apraxia, Spasticity, Tremor, Frequent falls, Dystonia, Ataxia, Chor...	OMIM:612716
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Hearing impairment, Cerebellar atrophy	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, Decreased number of small peripheral myelinated nerve fibers, Impaired temper...	ORPHA:64752
Smith-Lemli-Opitz Syndrome	Global brain atrophy, Aganglionic megacolon, Recurrent otitis media, Chiari type I malformation, ...	OMIM:270400
Progressive Supranuclear Palsy	Gliosis	ORPHA:683
Multiple Acyl-Coa Dehydrogenase Deficiency	Gliosis	OMIM:231680
Hereditary Late-Onset Parkinson Disease	Gliosis, Orthostatic hypotension due to autonomic dysfunction	ORPHA:411602
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Ataxia	ORPHA:713
Fliedner-Zweier Syndrome	Bicuspid aortic valve, Hypertonia, Ventricular septal defect, Cerebellar atrophy	OMIM:620511
Stankiewicz-Isidor Syndrome	Abnormal optic disc morphology	OMIM:617516
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Optic atrophy, Photophobia, Hypermetropia, Cerebellar atrophy, Hip contracture, Chorioretinal col...	OMIM:210730
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Gliosis	OMIM:618321
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebellar atrophy, Low-set ears, Communicating hydrocephalus, Cerebral cortical atrophy, Macroti...	OMIM:617011
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Atrial septal defect, Abnormal lateral ventricle morphology, Chiari type I...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Atrial septal defect, Abnormal lateral ventricle morphology, Chiari type I...	ORPHA:353277
Kabuki Syndrome 1	Recurrent otitis media, Hydrocephalus, Low-set ears, Hearing impairment, Macrotia, Posteriorly ro...	OMIM:147920
Alg9-Cdg	Cerebral atrophy, Atrial septal defect, Torticollis, Low-set, posteriorly rotated ears, Abnormal ...	ORPHA:79328
Iniencephaly	Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Myelomeningocele, Spina bifida, Cystic hyg...	ORPHA:63259
Peroxisome Biogenesis Disorder 1B	Optic atrophy, Rod-cone dystrophy	OMIM:601539
Multiple System Atrophy 1, Susceptibility To	Bradykinesia, Babinski sign, Tremor, Rigidity, Ataxia, Parkinsonism	OMIM:146500
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Spastic gait, Demyelinating peripheral neuropathy, Distal amyotrophy, Basal lamina onion bulb for...	ORPHA:2821
Sympathetic Ophthalmia	Retinal detachment, Vitreous floaters, Depigmented fundus, Retinal hemorrhage, Papilledema, Macul...	ORPHA:79098
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor	OMIM:614195
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature	Optic atrophy	OMIM:609037
Intellectual Developmental Disorder, Autosomal Dominant 54	Hyperkinetic movements, Athetoid cerebral palsy, Lower limb spasticity, Inability to walk, Cerebe...	OMIM:617799
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Parkinsonism	ORPHA:1578
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Cerebellar cortical atrophy, Retinal dystrophy, Hydrocephalus, Optic nerve hypopla...	OMIM:619321
Aicardi-Goutieres Syndrome 7	Cerebral atrophy, Hypertonia, Limb hypertonia, Lower limb spasticity, Tetraparesis, Tetraplegia, ...	OMIM:615846
Tyrosinemia Type 2	Tremor, Ataxia	ORPHA:28378
Parkinson Disease 1, Autosomal Dominant	Gliosis	OMIM:168601
Argininemia	Spastic gait, Reduced erythrocyte arginase activity, Cerebellar atrophy, Frequent falls, Spastic ...	OMIM:207800
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Protruding ear, Hypermetropia, Low-set ears, Colpocephaly, Agenesis o...	OMIM:618820
Stt3A-Cdg	Cerebellar atrophy	ORPHA:370921
Phace Association	Optic atrophy, Optic nerve hypoplasia, Increased retinal vascularity, Horner syndrome	OMIM:606519
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Retinal detachment, Gliosis, Abnormal optic chiasm morphology	ORPHA:268261
Sturge-Weber Syndrome	Optic atrophy, Retinal detachment, Abnormal choroid morphology, Abnormal retinal vascular morphology	ORPHA:3205
Hyperoxaluria, Primary, Type I	Optic atrophy, Choroidal neovascularization, Optic neuropathy, Retinopathy, Retinal crystals	OMIM:259900
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Intention tremor, Action tremor, Gait ataxia, Unsteady gait, Myoclonus, Postu...	OMIM:254900
Insensitivity To Pain, Congenital, With Anhidrosis	Pain insensitivity, Decreased number of small peripheral myelinated nerve fibers, Abnormal autono...	OMIM:256800
Sacral Defect With Anterior Meningocele	Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele	OMIM:600145
3-Methylglutaconic Aciduria, Type Viia	Cerebellar atrophy, Delayed CNS myelination	OMIM:619835
Ataxia-Telangiectasia	Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Intention tremor, Failure to thrive, D...	OMIM:208900
Temtamy Preaxial Brachydactyly Syndrome	Optic atrophy, Abnormal optic disc morphology	ORPHA:363417
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Congenital stationary night blindness, Abnormal optic disc morphology	ORPHA:293967
Neurodegeneration With Brain Iron Accumulation 1	Bradykinesia, Babinski sign, Abnormality of extrapyramidal motor function, Spasticity, Tremor, Bl...	OMIM:234200
Congenital Disorder Of Deglycosylation 1	Gliosis, Decreased sensory nerve conduction velocity	OMIM:615273
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Incoordination, Elevated circulating creatinine concentration, Orthostatic hypotension, Decreased...	OMIM:223900
Branchiooculofacial Syndrome	Postnatal growth retardation, Branchial anomaly, Low posterior hairline, Intrauterine growth reta...	OMIM:113620
Lathosterolosis	Intrahepatic cholestasis, Cerebellar cortical atrophy, Hearing impairment, Myoclonus, Chiari malf...	ORPHA:46059
Mitochondrial Complex I Deficiency, Nuclear Type 2	Gliosis	OMIM:618222
Turcot Syndrome With Polyposis	Ependymoma, Hyperpigmentation of the fundus, Glioma, Astrocytoma, Epiretinal membrane, Papilledem...	ORPHA:99818
Witteveen-Kolk Syndrome	Growth delay, Short stature, Intracranial hemorrhage, Intrauterine growth retardation, Branchial ...	OMIM:613406
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Optic nerve hypoplasia, Gliosis	OMIM:620455
Bardet-Biedl Syndrome 20	Papilledema, Rod-cone dystrophy, Retinal vascular tortuosity	OMIM:619471
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Optic atrophy, Chorioretinal degeneration, Choroideremia, Reti...	ORPHA:1435
Van Esch-O'Driscoll Syndrome	Cerebral atrophy, Pulmonary valve atresia, Unilateral vocal cord paralysis, Microtia, Spasticity,...	OMIM:301030
Dyskeratosis Congenita, Autosomal Recessive 8	Cerebellar atrophy, Chromosomal breakage induced by crosslinking agents	OMIM:620133
Von Hippel-Lindau Disease	Pancreatic endocrine tumor, Retinal detachment, Adrenal pheochromocytoma, Retinal capillary heman...	ORPHA:892
Skin Creases, Congenital Symmetric Circumferential, 1	Dandy-Walker malformation, Cerebellar vermis atrophy, Low-set ears, Posteriorly rotated ears, Ove...	OMIM:156610
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cerebral atrophy, Global brain atrophy, Hypertonia, Spasticity, Cerebellar atrophy, Ataxia, Myocl...	OMIM:618426
Craniofacial Microsomia 1	Occipital encephalocele, Hydrocephalus, Branchial anomaly, Tetralogy of Fallot, Ventricular septa...	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	Tip-toe gait, Recurrent otitis media, Apraxia, Hypermetropia, Cerebellar vermis hypoplasia, Cereb...	OMIM:620450
9Q33.3Q34.11 Microdeletion Syndrome	Inability to walk, Cerebellar vermis atrophy, Abnormal pinna morphology, Spastic tetraparesis, Lo...	ORPHA:495818
Pineoblastoma	Papilledema, Retinoblastoma	ORPHA:251909
Supranuclear Palsy, Progressive, 1	Astrocytosis, Gliosis	OMIM:601104
Heterotaxy, Visceral, 5, Autosomal	Cerebral atrophy, Right atrial isomerism, Atrioventricular canal defect, Double inlet left ventri...	OMIM:270100
Monosomy 22Q13.3	Cerebellar cortical atrophy, Hypermetropia, Impaired pain sensation, Hearing impairment, Macrotia...	ORPHA:48652
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Hearing impairment, Small earlobe, Delayed peripheral myelination	ORPHA:364577
Cutis Laxa, Autosomal Recessive, Type Iid	Gliosis	OMIM:617403
Supranuclear Palsy, Progressive, 2	Gliosis	OMIM:609454
Semilobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology	ORPHA:220386
Alobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology	ORPHA:93926
Lobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology	ORPHA:93924
Diets-Jongmans Syndrome	Gliosis	OMIM:618846
Genitopatellar Syndrome	Hearing impairment, Hip contracture, Colpocephaly, Agenesis of corpus callosum, Knee flexion cont...	OMIM:606170
Gabriele-De Vries Syndrome	Gliosis	ORPHA:506358
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Facial palsy, Retinal coloboma, Abnormal optic disc morphology	ORPHA:508498
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly, Retinal dysplasia	OMIM:601374
Schinzel-Giedion Syndrome	Neural tube defect, Delayed eruption of teeth, Abnormal heart morphology, Umbilical hernia, Short...	ORPHA:798
7Q11.23 Microduplication Syndrome	Abnormal optic disc morphology	ORPHA:96121

Histopathology

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

There is no histopathology data for Opa1

IMPC related publications

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

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

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

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Opa1 MGI:1921393

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Eye Morphology

Eye Morphology

Eye Morphology

MicroCT E9.5

Human diseases caused by Opa1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data