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Gene: Trim2 MGI:1933163

Gene Summary

Name:

tripartite motif-containing 2

Synonyms:

narf, neural activity-related ring finger protein

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
corneal opacity		Trim2^em1(IMPC)Bay	HOM		Early adult	5.29×10^-05
hypoalgesia		Trim2^em1(IMPC)Bay	HOM		Early adult	1.61×10^-05 *

Download data as: TSV XLS

* Significant with a threshold of 1x10^-3, check the Pain Sensitivity page for more information.

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Viewing: all phenotypes

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Viewing: all phenotypes

* Significant with a threshold of 1x10^-3, check the Pain Sensitivity page for more information.

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.

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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Eye Morphology

VIP of right fundus

19 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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Eye Morphology

VIP of right eye

19 Images

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Eye Morphology

VIP of left eye

19 Images

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X-ray

XRay Images Forepaw

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Eye Morphology

VIP of left fundus

19 Images

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X-ray

XRay Images Skull Lateral Orientation

13 Images

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Human diseases caused by Trim2 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 Trim2 (1 diseases)
Human diseases predicted to be associated with Trim2 (759 diseases)

The table below shows human diseases associated to Trim2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Charcot-Marie-Tooth Disease, Axonal, Type 2R		Inability to walk, Broad-based gait, Axonal degeneration, Vocal cord paralysis, Decreased motor n...	OMIM:615490

The table below shows human diseases predicted to be associated to Trim2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Corneal Dystrophy, Band-Shaped	Band-shaped corneal dystrophy	OMIM:217500
Corneal dystrophy, lisch epithelial	Corneal dystrophy	OMIM:300778
Optic Atrophy 2	Optic atrophy, Babinski sign, Dysdiadochokinesis, Tremor	OMIM:311050
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Cerebral atrophy, Generalized myoclonic seizure, Cerebellar atrophy, Retinopathy, ...	OMIM:610951
Central Cloudy Dystrophy Of Francois	Corneal dystrophy, Central corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Ceroid Lipofuscinosis, Neuronal, 11	Optic atrophy, Generalized myoclonic seizure, Retinal dystrophy, Seizure, Cerebellar atrophy, Ataxia	OMIM:614706
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Cerebellar hypoplasia, Seizure, Tremor, Ataxia	OMIM:213000
Keratitis, Hereditary	Opacification of the corneal stroma, Keratitis	OMIM:148190
Olivopontocerebellar Atrophy-Deafness Syndrome	Optic atrophy, Hypertonia, Seizure, Cerebral cortical atrophy, Olivopontocerebellar atrophy, Atax...	ORPHA:2732
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:1490
Spinocerebellar Ataxia 43	Limb ataxia, Distal sensory impairment, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigidity,...	OMIM:617018
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Optic atrophy, Cerebral atrophy, Generalized myoclonic seizure, Myoclonic status epilepticus, Tru...	OMIM:611726
Corneal Dystrophy, Groenouw Type I	Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy	OMIM:121900
Spinocerebellar Ataxia Type 15/16	Tremor by anatomical site, Cerebellar atrophy, Head tremor, Action tremor, Gait ataxia, Upper lim...	ORPHA:98769
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Babinski sign, Limb ataxia, Lower limb spasticity, Cerebellar vermis atrophy, Spas...	OMIM:614322
Ceroid Lipofuscinosis, Neuronal, 9	Optic atrophy, Cerebral atrophy, Seizure, Rigidity, Ataxia, Loss of ambulation, Rod-cone dystrophy	OMIM:609055
Ceroid Lipofuscinosis, Neuronal, 5	Dysdiadochokinesis, Seizure, Cerebellar atrophy, Cerebral cortical atrophy, Limb tremor, Increase...	OMIM:256731
Epilepsy, Progressive Myoclonic 7	Tremor, Cerebellar atrophy, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Myoclonus	OMIM:616187
Spinocerebellar Ataxia 37	Tremor, Cerebellar atrophy, Frequent falls, Unsteady gait, Ataxia	OMIM:615945
Spinocerebellar Ataxia Type 31	Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Impaired vibratory sensation	ORPHA:217012
Spinocerebellar Ataxia 40	Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Tremor, Intention tremor, Gait ata...	OMIM:616053
Spinocerebellar Ataxia Type 38	Difficulty walking, Tremor, Cerebellar atrophy, Gait ataxia, Somatic sensory dysfunction	ORPHA:423296
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Babinski sign, Focal-onset seizure, Abnormality of extrapyramidal motor function, Neuronal loss i...	OMIM:615362
Camos Syndrome	Optic atrophy, Brain atrophy, Spasticity, Seizure, Progressive extrapyramidal movement disorder, ...	ORPHA:83472
Spinocerebellar Ataxia, Autosomal Recessive 29	Inability to walk, Lower limb spasticity, Cerebellar vermis atrophy, Seizure, Cerebellar atrophy,...	OMIM:619389
Spinocerebellar Ataxia 38	Limb ataxia, Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem, Tremor, Gai...	OMIM:615957
Cornea Plana 1, Autosomal Dominant	Flat cornea	OMIM:121400
Neuroectodermal Melanolysosomal Disease	Optic atrophy, Macular dystrophy, Hypertonia, Spasticity, Subcortical cerebral atrophy, Tremor, S...	ORPHA:33445
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Spastic gait, Babinski sign, Chiari type I malformation, Impaired distal proprioception, Spastici...	OMIM:619742
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Optic atrophy, Babinski sign, Difficulty walking, Lower limb spasticity, Atrophy/Degeneration aff...	OMIM:612319
Spinocerebellar Ataxia Type 37	Falls, Cerebellar vermis atrophy, Dysdiadochokinesis, Tremor, Truncal ataxia, Myoclonus, Cogwheel...	ORPHA:363710
Ceroid Lipofuscinosis, Neuronal, 8	Cerebral atrophy, Seizure, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, At...	OMIM:600143
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Cerebellar...	OMIM:615268
Epilepsy, Progressive Myoclonic, 11	Cerebellar vermis hypoplasia, Seizure, Cerebellar atrophy, Intention tremor, Rigidity, Ataxia, Gi...	OMIM:618876
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy, Generalized myoclonic seizure, Difficulty walking, Focal-onset seizure, Inability ...	ORPHA:330050
Migraine, Familial Hemiplegic, 1	Seizure, Tremor, Cerebellar atrophy, Hemiparesis, Ataxia, Hemiplegia	OMIM:141500
Corneal Dystrophy, Epithelial Basement Membrane	Recurrent corneal erosions, Corneal dystrophy, Map-dot-fingerprint corneal dystrophy	OMIM:121820
Ceroid Lipofuscinosis, Neuronal, 2	Cerebral atrophy, Seizure, Retinal degeneration, Increased neuronal autofluorescent lipopigment, ...	OMIM:204500
Spinocerebellar Ataxia 41	Cerebellar vermis atrophy, Cerebellar atrophy, Gait ataxia, Unsteady gait, Ataxia	OMIM:616410
Glycosylphosphatidylinositol Biosynthesis Defect 15	Optic atrophy, Generalized non-motor (absence) seizure, Inability to walk, Apraxia, Spasticity, T...	OMIM:617810
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Abnormality of extrapyramidal motor function, Seizure, Bilateral tonic-clonic seizure, Abnormal c...	OMIM:162350
Diaminopentanuria	Seizure, Spasticity, Neurodegeneration, Ataxia	OMIM:222350
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Leukoencephalopathy, Brain Calcifications, And Cysts	Abnormality of extrapyramidal motor function, Spasticity, Tremor, Seizure, Gait disturbance, Dyst...	OMIM:614561
Nescav Syndrome	Optic atrophy, Cerebral atrophy, Babinski sign, Inability to walk, Appendicular spasticity, Cereb...	OMIM:614255
Episodic Ataxia, Type 1	Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech	OMIM:160120
Ataxia-Tapetoretinal Degeneration Syndrome	Gait disturbance, Ataxia, Rod-cone dystrophy, Aplasia/Hypoplasia of the cerebellum, Pigmentary re...	ORPHA:1178
Dystonia 23	Torticollis, Writer's cramp, Axial dystonia, Cerebellar atrophy, Limb dystonia, Head tremor, Cere...	OMIM:614860
Morquio Syndrome C	Corneal opacity	OMIM:252300
Thiel-Behnke Corneal Dystrophy	Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop...	ORPHA:98960
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech	OMIM:613227
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Cerebellar dysplasia, Retinal dysplasia	OMIM:615041
Spinocerebellar Ataxia, Autosomal Recessive 4	Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atrophy, Seizure, Freq...	OMIM:607317
Spinocerebellar Ataxia 23	Limb ataxia, Babinski sign, Impaired distal proprioception, Neuronal loss in central nervous syst...	OMIM:610245
X-Linked Corneal Dermoid	Corneal opacity, Abnormal pupil morphology	ORPHA:1661
Spinocerebellar Ataxia 7	Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor ...	OMIM:164500
Macular Dystrophy, Corneal	Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea	OMIM:217800
Spinocerebellar Ataxia Type 12	Cerebral atrophy, Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Cerebell...	ORPHA:98762
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Seizure, Neurodegeneration	OMIM:613068
Spinocerebellar Ataxia, Autosomal Recessive 16	Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Unsteady gait...	OMIM:615768
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:3177
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet	Posterior corneal stroma punctiform multicolored opacities	OMIM:619871
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Generalized myoclonic seizure, Inability to walk, Cerebellar vermis hypoplasia, Tremor, Cerebella...	OMIM:618090
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebral atrophy, Inability to walk, Abnormality of extrapyramidal motor function, Chorea, Spasti...	OMIM:617672
Lattice Corneal Dystrophy Type I	Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification...	ORPHA:98964
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Tremor, Hereditary Essential, 6	Cerebellar atrophy, Head tremor, Postural tremor, Kinetic tremor, Vocal tremor	OMIM:618866
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebral atrophy, Babinski sign, Bradykinesia, Apraxia, Falls, Spasticity, Seizure, Cerebellar at...	OMIM:300423
Spinocerebellar Ataxia Type 20	Bradykinesia, Isometric tremor, Tremor by anatomical site, Cerebellar atrophy, Gait ataxia, Inten...	ORPHA:101110
Spinocerebellar Ataxia 12	Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Cerebellar atrophy, Head tremo...	OMIM:604326
Cerebellar Ataxia, Cayman Type	Bradykinesia, Broad-based gait, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Intention tremor...	OMIM:601238
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Cerebellar atrophy, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria	OMIM:617917
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Cerebellar ve...	ORPHA:284332
Ring Dermoid Of Cornea	Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con...	OMIM:180550
Spinocerebellar Ataxia Type 35	Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Cereb...	ORPHA:276193
Cataract 21, Multiple Types	Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I...	OMIM:610202
Anterior Segment Dysgenesis 8	Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,...	OMIM:617319
Spastic Paraplegia 79B, Autosomal Recessive	Fasciculations, Cerebellar atrophy, Spastic paraplegia, Head titubation, Ataxia, Impaired vibrato...	OMIM:615491
Spinocerebellar Ataxia 35	Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Cerebell...	OMIM:613908
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Cerebral atrophy, Bradykinesia, Seizure, Tremor, Cerebellar atrophy, Abnormal auto...	ORPHA:329284
Pupillary Membrane, Persistence Of	Developmental cataract, Persistent pupillary membrane, Megalocornea	OMIM:178900
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy	OMIM:217400
Spastic Ataxia 2, Autosomal Recessive	Cerebral atrophy, Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atro...	OMIM:611302
Spinocerebellar Ataxia 18	Babinski sign, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Progressive gait ataxia, Dysmetria	OMIM:607458
Lichtenstein-Knorr Syndrome	Limb ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Acti...	OMIM:616291
Stxbp1-Related Encephalopathy	Epileptic spasm, Generalized myoclonic seizure, Inability to walk, Spasticity, Tremor, Focal moto...	ORPHA:599373
Spinocerebellar Ataxia Type 14	Limb ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigid...	ORPHA:98763
Optic Atrophy 3, Autosomal Dominant	Optic atrophy, Abnormality of extrapyramidal motor function, Tremor, Optic disc pallor	OMIM:165300
Adult Neuronal Ceroid Lipofuscinosis	Abnormality of extrapyramidal motor function, Spasticity, Tremor, Seizure, Ataxia, Abnormal pyram...	ORPHA:79262
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Leukoencephalopathy, Progressive, With Ovarian Failure	Babinski sign, Apraxia, Spasticity, Cerebellar atrophy, Dystonia, Ataxia, Hand tremor, Neurodegen...	OMIM:615889
Cornea Plana 2, Autosomal Recessive	Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea	OMIM:217300
Mitochondrial Complex I Deficiency, Nuclear Type 12	Generalized myoclonic seizure, Gait imbalance, Seizure, Cerebellar atrophy, Frequent falls, Bilat...	OMIM:301020
Neuropathy, Ataxia, And Retinitis Pigmentosa	Corticospinal tract atrophy, Seizure, Retinopathy, Retinal pigment epithelial mottling, Ataxia, R...	OMIM:551500
Spinocerebellar Ataxia, Autosomal Recessive 22	Lower limb spasticity, Truncal ataxia, Cerebellar atrophy, Intention tremor, Ataxia, Unsteady gai...	OMIM:616948
Encephalopathy, Progressive, With Or Without Lipodystrophy	Cerebral atrophy, Neuronal loss in central nervous system, Spasticity, Tremor, Seizure, Dystonia,...	OMIM:615924
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ...	OMIM:136800
Spinocerebellar Ataxia, Autosomal Recessive 13	Inferior cerebellar vermis hypoplasia, Inability to walk, Dysdiadochokinesis, Tremor, Cerebellar ...	OMIM:614831
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Cerebellar hypoplasia, Abnormality of retinal pigmentation, Ataxia	ORPHA:2246
Autosomal Recessive Spastic Paraplegia Type 67	Spastic gait, Babinski sign, Difficulty walking, Lower limb spasticity, Cerebral cortical atrophy...	ORPHA:401820
Spinocerebellar Ataxia, Autosomal Recessive 15	Seizure, Cerebellar atrophy, Gait ataxia, Unsteady gait, Ataxia	OMIM:615705
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
Neurodegeneration With Brain Iron Accumulation 5	Cerebral atrophy, Bradykinesia, Akinesia, Seizure, Tremor, Cerebellar atrophy, Abnormal autonomic...	OMIM:300894
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Eyelid myoclonus, Generalized myoclonic seizure, Difficulty walking, Myoclonic status epilepticus...	ORPHA:2590
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Infantile Neuronal Ceroid Lipofuscinosis	Cerebral atrophy, Brain atrophy, Chorea, Tremor, Cerebellar atrophy, Spasticity, Poor fine motor ...	ORPHA:79263
Epilepsy, Progressive Myoclonic, 8	Limb ataxia, Falls, Truncal ataxia, Atrophy/Degeneration affecting the brainstem, Cerebellar atro...	OMIM:616230
Dentatorubral-Pallidoluysian Atrophy	Atrophy of the dentate nucleus, Chorea, Seizure, Dystonia, Ataxia, Parkinsonism, Myoclonus, Chore...	OMIM:125370
Epilepsy, Progressive Myoclonic, 1B	Babinski sign, Generalized myoclonic seizure, Tremor, Atonic seizure, Ataxia, Myoclonus, Dysmetria	OMIM:612437
Anterior Segment Dysgenesis 6	Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m...	OMIM:617315
Galactosialidosis	Corneal opacity	ORPHA:351
X-Linked Non Progressive Cerebellar Ataxia	Spastic dysarthria, Cerebellar vermis hypoplasia, Truncal ataxia, Frequent falls, Intention tremo...	ORPHA:314978
Spinocerebellar Ataxia, X-Linked 1	Abnormality of extrapyramidal motor function, Cerebellar atrophy, Intention tremor, Action tremor...	OMIM:302500
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Spinocerebellar Ataxia Type 40	Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Intention tremor, Gait ataxia, Uns...	ORPHA:423275
Dystonia 22, Juvenile-Onset	Oromandibular dystonia, Torticollis, Lower limb spasticity, Dysdiadochokinesis, Cerebellar atroph...	OMIM:620453
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Optic atrophy, Difficulty walking, Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Se...	ORPHA:529665
Corneal Dystrophy, Reis-Bucklers Type	Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion	OMIM:608470
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Tremor, Bilatera...	OMIM:617831
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Optic atrophy, Spasticity, Seizure, Cerebellar atrophy, Ataxia, Spastic tetraplegia	OMIM:617207
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Incoordination, Cerebellar atrophy, Gait apraxia, Gait ataxia, Ataxia, Babinski sign, Limb fascic...	OMIM:615157
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebral atrophy, Babinski sign, Bradykinesia, Oromandibular dystonia, Scissor gait, Spasticity, ...	ORPHA:521406
Spinocerebellar Ataxia 48	Babinski sign, Chorea, Tremor, Cerebellar atrophy, Bilateral tonic-clonic seizure, Gait ataxia, D...	OMIM:618093
Primary Orthostatic Tremor	Abnormality of extrapyramidal motor function, Tremor	ORPHA:238606
Rapid-Onset Dystonia-Parkinsonism	Bradykinesia, Torticollis, Resting tremor, Seizure, Cerebellar atrophy, Craniofacial dystonia, Li...	ORPHA:71517
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Cerebral atrophy, Babinski sign, Positive Romberg sign, Spasticity, Seizure, Cerebellar atrophy, ...	OMIM:618088
Spinocerebellar Ataxia 20	Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor	OMIM:608687
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity	ORPHA:2432
Generalized Epilepsy With Febrile Seizures-Plus	Bradykinesia, Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset...	ORPHA:36387
Spinocerebellar Ataxia, Autosomal Recessive 18	Babinski sign, Oculomotor apraxia, Cerebellar vermis atrophy, Incoordination, Truncal ataxia, Cer...	OMIM:616204
Behr Syndrome	Optic atrophy, Babinski sign, Cerebellar vermis atrophy, Truncal ataxia, Tremor, Cerebellar atrop...	OMIM:210000
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha...	OMIM:269400
Dyskinesia, Limb And Orofacial, Infantile-Onset	Hemiballismus, Hyperkinetic movements, Chorea, Seizure, Tremor, Frequent falls, Unsteady gait	OMIM:616921
Epilepsy, Familial Adult Myoclonic, 4	Enhancement of the C-reflex, Seizure, Tremor, Bilateral tonic-clonic seizure, Myoclonus	OMIM:615127
Spinocerebellar Ataxia, Autosomal Recessive 2	Limb ataxia, Cerebellar vermis atrophy, Incoordination, Tremor, Spasticity, Gait ataxia, Dilated ...	OMIM:213200
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Difficulty walking, Broad-based gait, Cerebellar vermis atrophy, Poor fine motor coordination, Ce...	ORPHA:512260
Alpha-Methylacyl-Coa Racemase Deficiency	Focal-onset seizure, Spasticity, Tremor, Seizure, Intention tremor, Hemiparesis, Ataxia, Status e...	OMIM:614307
Atypical Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction...	ORPHA:216873
Leukodystrophy, Hypomyelinating, 6	Optic atrophy, Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Seizure, Rigidity, Dys...	OMIM:612438
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Tremor, Cerebellar ...	OMIM:619028
Granular Corneal Dystrophy Type Ii	Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube...	ORPHA:98963
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Hyperkinetic movements, Torticollis, Chorea, Tremor, Bilateral tonic-clonic seizure, Dystonia, At...	OMIM:618425
Spinocerebellar Ataxia 29	Limb ataxia, Truncal titubation, Broad-based gait, Cerebellar vermis hypoplasia, Cerebellar vermi...	OMIM:117360
Epilepsy, Familial Adult Myoclonic, 3	Difficulty walking, Focal-onset seizure, Enhancement of the C-reflex, Tremor, Bilateral tonic-clo...	OMIM:613608
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Retinal telangiectasia, Neurodegeneration, Cerebellar atrophy, Gait ataxia	ORPHA:438134
Striatal Degeneration, Autosomal Dominant 1	Bradykinesia, Degeneration of the striatum, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidit...	OMIM:609161
Spinocerebellar Ataxia, Autosomal Recessive 6	Spasticity, Cerebellar atrophy, Intention tremor, Gait ataxia, Ataxia, Clumsiness, Dysmetria	OMIM:608029
Spinocerebellar Ataxia 50	Apraxia, Chorea, Cerebellar vermis atrophy, Cerebellar atrophy, Head tremor, Action tremor, Ataxi...	OMIM:620158
Epilepsy, Familial Adult Myoclonic, 1	Generalized myoclonic seizure, Enhancement of the C-reflex, Tremor, Bilateral tonic-clonic seizur...	OMIM:601068
Intellectual Developmental Disorder, X-Linked 104	Optic atrophy, Spasticity, Tremor, Seizure, Cerebral cortical atrophy, Ataxia	OMIM:300983
Dravet Syndrome	Cerebral atrophy, Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalize...	OMIM:607208
Multiple Mitochondrial Dysfunctions Syndrome 6	Optic atrophy, Inability to walk, Atrophy/Degeneration affecting the brainstem, Spasticity, Seizu...	OMIM:617954
Boucher-Neuhauser Syndrome	Retinal dystrophy, Spinocerebellar atrophy, Abnormal upper motor neuron morphology, Spasticity, C...	OMIM:215470
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Cerebellar atrophy, Clumsiness, Optic atrophy, Babinski sign, Hypertonia, Difficulty walking, Imp...	ORPHA:137898
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bradykinesia, Generalized myoclonic seizure, Chiari type I malformation, Myoclonic absence seizur...	OMIM:617836
Progressive Myoclonic Epilepsy Type 3	Optic atrophy, Cerebral atrophy, Focal myoclonic seizure, Progressive cerebellar ataxia, Photosen...	ORPHA:263516
Basal Ganglia Calcification, Idiopathic, 1	Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Seizure, Gait disturbance, Cerebella...	OMIM:213600
Peroxisome Biogenesis Disorder 8B	Cerebellar atrophy, Corpus callosum atrophy, Gait ataxia, Rigidity, Ataxia, Optic atrophy, Babins...	OMIM:614877
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Inferior cerebellar vermis hypoplasia, Broad-based gait, Cerebellar ataxia associated with quadru...	OMIM:224050
Spinocerebellar Ataxia, Autosomal Recessive 17	Limb ataxia, Oculomotor apraxia, Broad-based gait, Cerebellar vermis hypoplasia, Truncal ataxia, ...	OMIM:616127
Monomelic Amyotrophy	Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul...	ORPHA:65684
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Truncal ataxia, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic sei...	OMIM:618587
Spastic Paraplegia 6, Autosomal Dominant	Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim...	OMIM:600363
Spastic Paraplegia 78, Autosomal Recessive	Bradykinesia, Babinski sign, Distal sensory impairment, Falls, Resting tremor, Impaired tactile s...	OMIM:617225
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Gait disturbance...	OMIM:617145
Spinocerebellar Ataxia Type 17	Cerebellar Purkinje layer atrophy, Torticollis, Writer's cramp, Neuronal loss in central nervous ...	ORPHA:98759
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Babinski sign, Spasticity, Tremor, Ataxia	OMIM:611105
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Steppage gait, Distal sensory impairment, Tremor, Cerebellar atrophy, Gait ataxia, Ataxia, Dysmetria	OMIM:618387
Segawa Syndrome, Autosomal Recessive	Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop...	OMIM:605407
Neurodegeneration With Brain Iron Accumulation 7	Cerebral atrophy, Lower limb spasticity, Tremor, Cerebellar atrophy, Dystonia, Ataxia, Loss of am...	OMIM:617916
Coenzyme Q10 Deficiency, Primary, 4	Epilepsia partialis continua, Seizure, Tremor, Cerebellar atrophy, Ataxia, Myoclonus, Abnormal py...	OMIM:612016
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De...	ORPHA:708
Lopes-Maciel-Rodan Syndrome	Cerebral atrophy, Bradykinesia, Hypertonia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebe...	OMIM:617435
Myoclonus, Familial, 1	Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus	OMIM:614937
Spinocerebellar Ataxia 17	Bradykinesia, Limb ataxia, Apraxia, Broad-based gait, Neuronal loss in central nervous system, Ch...	OMIM:607136
Epilepsy, Progressive Myoclonic, 6	Generalized non-motor (absence) seizure, Difficulty walking, Myoclonic status epilepticus, Tremor...	OMIM:614018
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Progressive cerebellar ataxia, Seizure, Tremor, Cerebellar atrophy, Dystonia, Myoclonus, Abnormal...	ORPHA:139485
Corneal Dystrophy, Posterior Polymorphous, 1	Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma...	OMIM:122000
Spinocerebellar Ataxia, Autosomal Recessive 32	Bradykinesia, Limb ataxia, Abnormal nerve conduction velocity, Torticollis, Atrophy/Degeneration ...	OMIM:619862
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Limb ataxia, Progressive cerebellar ataxia, Fasciculations, Macular degeneration, Truncal ataxia,...	ORPHA:284289
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia...	ORPHA:284324
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Optic atrophy, Babinski sign, Spasticity, Tremor, Cerebellar atrophy, Seizure, Cerebral cortical ...	OMIM:607694
Autosomal Spastic Paraplegia Type 58	Cerebral atrophy, Babinski sign, Tip-toe gait, Torticollis, Erratic myoclonus, Fasciculations, Ch...	ORPHA:397946
Congenital Hereditary Endothelial Dystrophy Type Ii	Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ...	ORPHA:293603
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Abnormal cerebellar peduncle mo...	ORPHA:98
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Paroxysmal dystonia, Writer's cramp, Focal motor seizure, Bilateral tonic-clonic seizure, Prolong...	OMIM:608105
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus	ORPHA:401901
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Involuntary movements, Atonic seizure, Myoclonus, Postural tremor, Kinetic tremor	OMIM:611092
Spinocerebellar Ataxia 19	Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cerebellar atrophy, Cogwheel rigidity...	OMIM:607346
Peroxisome Biogenesis Disorder 5B	Oculomotor apraxia, Retinal dystrophy, Tremor, Cerebellar atrophy, Ataxia, Unsteady gait, Rod-con...	OMIM:614867
Neurodegeneration With Brain Iron Accumulation 2A	Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Neuronal loss in central ne...	OMIM:256600
Ceroid Lipofuscinosis, Neuronal, 10	Cerebral atrophy, Neuronal loss in central nervous system, Spasticity, Retinal atrophy, Cerebella...	OMIM:610127
Spinocerebellar Ataxia, Autosomal Recessive 14	Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Intention tremor, Gait ataxia, Unsteady gait,...	OMIM:615386
Primary Dystonia, Dyt27 Type	Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto...	ORPHA:464440
Paroxysmal Exertion-Induced Dyskinesia	Paroxysmal dyskinesia, Generalized non-motor (absence) seizure, Lower limb spasticity, Torsion dy...	ORPHA:98811
Neurodegeneration With Brain Iron Accumulation 4	Optic atrophy, Babinski sign, Oromandibular dystonia, Abnormality of extrapyramidal motor functio...	OMIM:614298
Spinocerebellar Ataxia 2	Oculomotor apraxia, Fasciculations, Cerebellar atrophy, Action tremor, Rigidity, Ataxia, Myoclonu...	OMIM:183090
Autosomal Dominant Spastic Ataxia Type 1	Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Difficulty walking, Low...	ORPHA:251282
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Generalized myoclonic seizure, Difficulty walking, Tongue fasciculations, Tremor, Facial palsy, G...	OMIM:159950
Neurodegeneration With Brain Iron Accumulation 2B	Optic atrophy, Cerebral atrophy, Babinski sign, Hypertonia, Bradykinesia, Chorea, Spasticity, Dys...	OMIM:610217
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Tremor, Bilateral tonic-clonic seizure, Myoclonus, Focal sensory seizure with visual features, Fo...	OMIM:615400
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Combined Oxidative Phosphorylation Defect Type 29	Global brain atrophy, Axonal degeneration, Abnormal autonomic nervous system physiology, Optic ne...	ORPHA:478029
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Neurodegeneration With Brain Iron Accumulation 6	Bradykinesia, Tip-toe gait, Oromandibular dystonia, Gait disturbance, Rigidity, Dystonia, Spastic...	OMIM:615643
Dystonia 27	Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo...	OMIM:616411
Atypical Juvenile Parkinsonism	Bradykinesia, Akinesia, Inability to walk, Resting tremor, Brain atrophy, Seizure, Shuffling gait...	ORPHA:391411
Sandhoff Disease, Adult Form	Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia	ORPHA:309169
Myoclonic-Atonic Epilepsy	Generalized non-motor (absence) seizure, Eyelid myoclonus, Tremor, Myoclonic seizure, Atonic seiz...	OMIM:616421
Macular Corneal Dystrophy	Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy...	ORPHA:98969
Dystonia 3, Torsion, X-Linked	Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication...	OMIM:314250
Developmental And Epileptic Encephalopathy 47	Limb ataxia, Focal-onset seizure, Inability to walk, Cerebellar atrophy, Gait disturbance, Bilate...	OMIM:617166
Granular Corneal Dystrophy Type I	Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ...	ORPHA:98962
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat...	ORPHA:314632
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Glutathione Synthetase Deficiency	Seizure, Spastic tetraparesis, Intention tremor, Ataxia, Pigmentary retinopathy	OMIM:266130
Developmental And Epileptic Encephalopathy 97	Epileptic spasm, Seizure, Tremor, Inability to walk	OMIM:619561
Spinocerebellar Ataxia 42	Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Tremor, Cerebellar atrophy, ...	OMIM:616795
Bilateral Frontoparietal Polymicrogyria	Generalized myoclonic seizure, Typical absence seizure, Gait imbalance, Cerebellar vermis hypopla...	ORPHA:101070
4H Leukodystrophy	Optic atrophy, Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Tremor, Cerebell...	ORPHA:289494
Cyanide-Induced Parkinsonism-Dystonia	Bradykinesia, Falls, Resting tremor, Subcortical cerebral atrophy, Shuffling gait, Cerebral corti...	ORPHA:306692
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Cerebral atrophy, Steppage gait, Distal sensory impairment, Impaired distal proprioception, Seizu...	OMIM:607250
Anterior Segment Dysgenesis 1	Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c...	OMIM:107250
X-Linked Intellectual Disability, Hedera Type	Babinski sign, Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Cerebellar atrophy, ...	ORPHA:93952
Hsd10 Disease	Frontotemporal cerebral atrophy, Optic atrophy, Seizure, Tremor, Gait disturbance, Rigidity, Atax...	ORPHA:391417
Myoclonic Epilepsy, Familial Infantile	Limb ataxia, Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic ...	OMIM:605021
Gm2 Gangliosidosis, Ab Variant	Cerebral atrophy, Chorea, Seizure, Exaggerated startle response, Dystonia, Cherry red spot of the...	ORPHA:309246
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, R...	ORPHA:370022
Spinocerebellar Ataxia Type 27	Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Tremor, Cerebellar atrophy, Gait distu...	ORPHA:98764
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Oculomotor apraxia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Poor motor...	ORPHA:1170
Dystonia, Dopa-Responsive	Bradykinesia, Babinski sign, Writer's cramp, Torticollis, Resting tremor, Incoordination, Spastic...	OMIM:128230
Leukodystrophy, Hypomyelinating, 11	Spasticity, Tremor, Cerebellar atrophy, Ataxia, Myoclonus	OMIM:616494
Corneal Dystrophy, Thiel-Behnke Type	Juvenile epithelial corneal dystrophy, Corneal dystrophy, Corneal scarring	OMIM:602082
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Tip-toe gait, Babinski sign, Difficulty walking, Distal sensory impairment, Axonal degeneration, ...	OMIM:302800
Spinocerebellar Ataxia Type 2	Cerebellar Purkinje layer atrophy, Progressive cerebellar ataxia, Fasciculations, Chorea, Gait at...	ORPHA:98756
Spinocerebellar Ataxia 13	Optic atrophy, Limb ataxia, Progressive cerebellar ataxia, Limb dysmetria, Spasticity, Cerebellar...	OMIM:605259
Primary Dystonia, Dyt13 Type	Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio...	ORPHA:98807
Spinocerebellar Ataxia, Autosomal Recessive 21	Limb ataxia, Distal sensory impairment, Impaired pain sensation, Cerebellar vermis atrophy, Spast...	OMIM:616719
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Developmental And Epileptic Encephalopathy 56	Generalized non-motor (absence) seizure, Broad-based gait, Focal motor seizure, Seizure, Action t...	OMIM:617665
Spinocerebellar Ataxia, Autosomal Recessive 31	Optic atrophy, Cerebral atrophy, Seizure, Tremor, Retinopathy, Dystonia, Ataxia, Cerebellar hypop...	OMIM:619422
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal stromal edema, Corneal dystrophy, Corneal guttata, Abnormal Descemet membrane morphology,...	OMIM:613270
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Optic atrophy, Broad-based gait, Seizure, Tremor, Spastic tetraparesis	OMIM:619470
Parkinsonism-Dystonia 3, Childhood-Onset	Global brain atrophy, Hypertonia, Hyperkinetic movements, Chorea, Tremor, Cerebellar atrophy, Act...	OMIM:619738
Spinocerebellar Ataxia Type 10	Babinski sign, Progressive cerebellar ataxia, Gait imbalance, Lower limb spasticity, Dysdiadochok...	ORPHA:98761
Spinocerebellar Ataxia 15	Limb ataxia, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Action tremor, Postural tremor	OMIM:606658
Developmental And Epileptic Encephalopathy 32	Seizure, Tremor, Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure...	OMIM:616366
Developmental And Epileptic Encephalopathy 42	Hypertonia, Tremor, Athetosis, Focal tonic seizure, Bilateral tonic-clonic seizure, Tonic seizure...	OMIM:617106
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Corneal...	ORPHA:171673
Winchester Syndrome	Corneal opacity	OMIM:277950
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis	OMIM:148200
Anterior Segment Dysgenesis 2	Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle...	OMIM:610256
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Dentatorubral Pallidoluysian Atrophy	Limb ataxia, Impaired proprioception, Oromandibular dystonia, Progressive cerebellar ataxia, Dyss...	ORPHA:101
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait	ORPHA:494526
Poretti-Boltshauser Syndrome	Retinal thinning, Cerebellar cyst, Retinal dystrophy, Oculomotor apraxia, Cerebellar vermis hypop...	OMIM:615960
Neurodegeneration With Brain Iron Accumulation 3	Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Rigidity,...	OMIM:606159
Dravet Syndrome	Epilepsia partialis continua, Focal-onset seizure, Incoordination, Action tremor, Atypical absenc...	ORPHA:33069
Fuchs Endothelial Corneal Dystrophy	Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of...	ORPHA:98974
Bilateral Striopallidodentate Calcinosis	Corneal opacity	ORPHA:1980
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Cerebral atrophy, Difficulty walking, Limb hypertonia, Brain atrophy, Spasticity, ...	ORPHA:442835
Congenital Disorder Of Glycosylation, Type Iibb	Cerebellar vermis hypoplasia, Spasticity, Tremor, Cerebellar atrophy, Tonic seizure, Myoclonic se...	OMIM:620546
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebral atrophy, Tremor, Cerebellar atrophy, Titubation, Ataxia, Unsteady gait, Dysmetria	OMIM:619405
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Difficulty walking, Tremor, Vocal cord paralysis, Vocal cord paresis, Abnormal motor nerve conduc...	OMIM:158580
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Babinski sign, Decreased sensory nerve conduction velocity, Hypertonia, Distal sen...	OMIM:609260
Rutherfurd Syndrome	Opacification of the corneal stroma, Corneal dystrophy	OMIM:180900
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Optic atrophy, Babinski sign, Hypertonia, Steppage gait, Distal sensory impairment, Tremor, Cereb...	OMIM:616505
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Optic atrophy, Cerebral atrophy, Hypertonia, Limb hypertonia, Seizure, Tremor, Cerebellar atrophy...	OMIM:617710
Dystonia 11, Myoclonic	Tremor, Myoclonus, Torticollis, Writer's cramp	OMIM:159900
Cerebral Creatine Deficiency Syndrome 2	Hypertonia, Lower limb spasticity, Seizure, Tremor, Bilateral tonic-clonic seizure, Paraparesis, ...	OMIM:612736
Spinocerebellar Ataxia 27B, Late-Onset	Limb ataxia, Postural tremor, Cerebellar atrophy, Gait ataxia	OMIM:620174
Tremor-Ataxia-Central Hypomyelination Syndrome	Optic atrophy, Babinski sign, Focal-onset seizure, Spastic dysarthria, Impaired distal propriocep...	ORPHA:447896
Null Syndrome	Optic atrophy, Decreased nerve conduction velocity, Difficulty walking, Inability to walk, Abnorm...	ORPHA:280234
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Limb ataxia, Distal sensory impairment, Oculomotor apraxia, Axonal degeneration, Chorea, Truncal ...	OMIM:208920
Spinal Muscular Atrophy, Jokela Type	Fasciculations, Tremor, Distal sensory impairment, Difficulty walking	OMIM:615048
Autosomal Recessive Progressive External Ophthalmoplegia	Optic atrophy, Cerebral atrophy, Bradykinesia, Distal sensory impairment, Optic neuritis, Parkins...	ORPHA:254886
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Cerebellar hypoplasia, Tremor, Ataxia, Limb dystonia	OMIM:620270
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Distal sensory impairment, Spa...	OMIM:612674
Spastic Ataxia 5, Autosomal Recessive	Generalized myoclonic seizure, Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Cerebellar atr...	OMIM:614487
Spinocerebellar Ataxia 5	Limb ataxia, Broad-based gait, Incoordination, Dysdiadochokinesis, Cerebellar atrophy, Upper moto...	OMIM:600224
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Fasciculations, Tremor, Loss of ambulation	OMIM:182980
Spinocerebellar Ataxia Type 1	Optic atrophy, Bradykinesia, Impaired proprioception, Progressive cerebellar ataxia, Abnormal ner...	ORPHA:98755
Spinocerebellar Ataxia Type 29	Oculomotor apraxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxi...	ORPHA:208513
Neurotrophic Keratopathy	Recurrent corneal erosions, Astigmatism, Corneal ulceration, Corneal stromal edema, Corneal scarr...	ORPHA:137596
Spinocerebellar Ataxia With Epilepsy	Optic atrophy, Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Bilateral ...	ORPHA:254881
Anterior Segment Dysgenesis 5	Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac...	OMIM:604229
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Progressive cerebellar ataxia, Truncal ataxia, Spasticity, Dysdiadochokinesis, Cerebellar atrophy...	ORPHA:352403
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Tremor, Gait disturbance	OMIM:611808
Hsd10 Disease, Infantile Type	Frontotemporal cerebral atrophy, Optic atrophy, Cerebral atrophy, Hyperkinetic movements, Seizure...	ORPHA:391428
Leukoencephalopathy With Ataxia	Limb ataxia, Choroidal neovascularization, Chorioretinal atrophy, Retinoschisis, Optic neuropathy...	OMIM:615651
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Abnormal vestibulo-ocular reflex, Babinski sign, Akinesia, Cerebellar cortical atrophy, Abnormal ...	ORPHA:247234
X-Linked Charcot-Marie-Tooth Disease Type 5	Optic atrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturba...	ORPHA:99014
Dystonia 28, Childhood-Onset	Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ...	OMIM:617284
Epithelial Recurrent Erosion Dystrophy	Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,...	ORPHA:293381
Parkinson Disease 15, Autosomal Recessive Early-Onset	Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m...	OMIM:260300
L-2-Hydroxyglutaric Aciduria	Optic atrophy, Global brain atrophy, Abnormality of extrapyramidal motor function, Seizure, Spast...	OMIM:236792
Corticobasal Syndrome	Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid...	ORPHA:454887
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Microcornea, Aniridia	OMIM:106230
Parkinsonism With Polyneuropathy	Bradykinesia, Decreased compound muscle action potential amplitude, Resting tremor, Parkinsonism ...	OMIM:619279
Urocanase Deficiency	Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria	OMIM:276880
Caribbean Parkinsonism	Bradykinesia, Orthostatic hypotension, Apraxia, Abnormal autonomic nervous system physiology, Cer...	ORPHA:97355
Adult-Onset Cervical Dystonia, Dyt23 Type	Difficulty walking, Torticollis, Writer's cramp, Axial dystonia, Cerebellar atrophy, Craniofacial...	ORPHA:420492
Spinocerebellar Ataxia Type 21	Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Cerebellar...	ORPHA:98773
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Dystonia, Frequent falls, Myoclonus	OMIM:619647
Leukoencephalopathy With Calcifications And Cysts	Spasticity, Tremor, Focal motor seizure, Seizure, Gait disturbance, Cerebellar dentate nucleus ca...	ORPHA:542310
Pelizaeus-Merzbacher Disease	Optic atrophy, Global brain atrophy, Writer's cramp, Inability to walk, Broad-based gait, Cerebel...	OMIM:312080
Spinocerebellar Ataxia, Autosomal Recessive 7	Limb ataxia, Babinski sign, Truncal titubation, Oculomotor apraxia, Cerebellar atrophy, Gait atax...	OMIM:609270
Parkinson Disease 2, Autosomal Recessive Juvenile	Cerebral atrophy, Babinski sign, Pill-rolling tremor, Bradykinesia, Resting tremor, Tremor, Shuff...	OMIM:600116
Glut1 Deficiency Syndrome 2	Cerebral atrophy, Seizure, Tremor, Dystonia, Ataxia, Choreoathetosis	OMIM:612126
Spinocerebellar Ataxia 44	Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Frequent falls, Gait ataxia, Ataxia, Dysmetria	OMIM:617691
Pyruvate Dehydrogenase E2 Deficiency	Babinski sign, Hypertonia, Difficulty walking, Paroxysmal dystonia, Broad-based gait, Gait distur...	ORPHA:79244
Spinocerebellar Ataxia Type 13	Optic atrophy, Bradykinesia, Limb ataxia, Difficulty walking, Torticollis, Seizure, Cerebellar at...	ORPHA:98768
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Posterior embryotoxon, Corneal opacity, Iris coloboma	ORPHA:1473
Ataxia With Vitamin E Deficiency	Hypertonia, Dysdiadochokinesis, Tremor, Gait disturbance, Hemiplegia/hemiparesis, Abnormality of ...	ORPHA:96
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia	Spastic gait, Babinski sign, Paroxysmal dyskinesia, Seizure, Cerebellar atrophy, Optic neuropathy...	OMIM:620538
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal dystrophy, Corneal guttata	OMIM:613268
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Eyelid myoclonus, Pontocerebellar atrophy, Oculomotor apraxia, Incoordination, Seizure, Tremor, A...	OMIM:618060
Lower Motor Neuron Syndrome With Late-Adult Onset	Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Impaired distal vibration sensa...	ORPHA:276435
Hemiparkinsonism-Hemiatrophy Syndrome	Bradykinesia, Difficulty walking, Brain atrophy, Tremor, Hemiparesis, Dystonia, Parkinsonism, Cer...	ORPHA:306669
Hyperphenylalaninemia, Bh4-Deficient, C	Hypertonia, Seizure, Tremor, Dystonia, Myoclonus, Choreoathetosis	OMIM:261630
Krabbe Disease	Optic atrophy, Hypertonia, Decreased nerve conduction velocity, Decerebrate rigidity, Seizure, Pr...	OMIM:245200
X-Linked Parkinsonism-Spasticity Syndrome	Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Seizure, Cogwheel rigidity...	ORPHA:363654
X-Linked Charcot-Marie-Tooth Disease Type 1	Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturbance, Ataxia	ORPHA:101075
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Bradykinesia, Akinesia, Resting tremor, Freezing of gait, Focal motor seizure, Seizure, Bilateral...	OMIM:619911
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Optic atrophy, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Dysdiadochokine...	OMIM:614381
Atypical Rett Syndrome	Pill-rolling tremor, Generalized myoclonic seizure, Neonatal seizure, Inability to walk, Apraxia,...	ORPHA:3095
Inherited Creutzfeldt-Jakob Disease	Bradykinesia, Babinski sign, Senile plaques, Global brain atrophy, Progressive cerebellar ataxia,...	ORPHA:282166
Combined Oxidative Phosphorylation Deficiency 45	Seizure, Tremor, Ataxia	OMIM:618951
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Hypertonia, Focal-onset seizure, Impaired tactile sensation, Bilateral tonic-clonic seizure with ...	OMIM:619092
Spinocerebellar Ataxia 34	Limb ataxia, Fasciculations, Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Cer...	OMIM:133190
Proximal Myopathy With Extrapyramidal Signs	Optic atrophy, Difficulty walking, Progressive extrapyramidal muscular rigidity, Resting tremor, ...	ORPHA:401768
Autosomal Dominant Keratitis	Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ...	ORPHA:2334
Cataract 1, Multiple Types	Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract	OMIM:116200
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Cerebral atrophy, Hemiballismus, Hypertonia, Bradykinesia, Inability to walk, Truncal ataxia, Spa...	OMIM:618877
Riboflavin Transporter Deficiency	Abnormal cranial nerve morphology, Abnormality of macular pigmentation, Seizure, Tremor, Facial p...	ORPHA:97229
Combined Oxidative Phosphorylation Deficiency 29	Optic atrophy, Global brain atrophy, Axonal degeneration, Spasticity, Seizure, Cerebellar atrophy...	OMIM:616811
Combined Oxidative Phosphorylation Deficiency 32	Optic atrophy, Inability to walk, Spasticity, Tremor, Cerebellar atrophy, Seizure, Dystonia, Chor...	OMIM:617664
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Oculomotor apraxia, Retinal atrophy, Cerebellar atrophy, Corpus callosum atrophy, Rigidity, Impai...	ORPHA:412057
Gm2-Gangliosidosis, Ab Variant	Cerebral atrophy, Hypertonia, Chorea, Seizure, Spastic tetraparesis, Exaggerated startle response...	OMIM:272750
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic atrophy, Babinski sign, Paroxysmal dyskinesia, Chorea, Spasticity, Athetosis, Blepharospasm...	OMIM:617282
Hypermanganesemia With Dystonia 2	Cerebral atrophy, Babinski sign, Bradykinesia, Oromandibular dystonia, Generalized dystonia, Scis...	OMIM:617013
Progressive Supranuclear Palsy-Corticobasal Syndrome	Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w...	ORPHA:240103
Migraine, Familial Hemiplegic, 2	Apraxia, Focal motor seizure, Tremor, Cerebellar atrophy, Episodic ataxia, Bilateral tonic-clonic...	OMIM:602481
Parkinsonism-Dystonia 2, Infantile-Onset	Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Shuffling gait, Abnormal autonomic...	OMIM:618049
Spinocerebellar Ataxia, Autosomal Recessive 11	Limb ataxia, Cerebellar vermis atrophy, Truncal ataxia, Cerebellar atrophy, Gait disturbance, Ataxia	OMIM:614229
Spinocerebellar Ataxia 8	Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Cerebellar atrophy, Abnormal p...	OMIM:608768
Spinocerebellar Ataxia 6	Abnormal vestibulo-ocular reflex, Progressive cerebellar ataxia, Incoordination, Truncal ataxia, ...	OMIM:183086
Posterior Polymorphous Corneal Dystrophy	Astigmatism, Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Incre...	ORPHA:98973
Severe Neurodegenerative Syndrome With Lipodystrophy	Cerebral atrophy, Neuronal loss in central nervous system, Spasticity, Tremor, Seizure, Poor moto...	ORPHA:363400
Neuronal Intranuclear Inclusion Disease	Decreased sensory nerve conduction velocity, Seizure, Tremor, Gait disturbance, Rigidity, Ataxia,...	OMIM:603472
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Tremor, Ataxia, Infantile spasms	OMIM:278780
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Distal sensory impairment, Axonal degeneration, Fasciculations, Tetraplegia, Gait disturbance, De...	OMIM:604484
X-Linked Charcot-Marie-Tooth Disease Type 4	Decreased nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturbance, Ataxia	ORPHA:101078
Familial Infantile Myoclonic Epilepsy	Simple febrile seizure, Focal-onset seizure, Generalized myoclonic seizure, Bilateral tonic-cloni...	ORPHA:352582
Brittle Cornea Syndrome 2	Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ...	OMIM:614170
Fragile X Tremor/Ataxia Syndrome	Bradykinesia, Resting tremor, Poor fine motor coordination, Dysdiadochokinesis, Cerebellar atroph...	OMIM:300623
Spinocerebellar Ataxia Type 36	Limb ataxia, Babinski sign, Difficulty walking, Fasciculations, Tongue fasciculations, Truncal at...	ORPHA:276198
Developmental And Epileptic Encephalopathy 4	Cerebral atrophy, Epileptic spasm, Generalized myoclonic seizure, Generalized tonic seizure, Trem...	OMIM:612164
Combined Oxidative Phosphorylation Deficiency 24	Optic atrophy, Neuronal loss in central nervous system, Spasticity, Seizure, Cerebellar atrophy, ...	OMIM:616239
Myopathy With Extrapyramidal Signs	Optic atrophy, Difficulty walking, Abnormality of extrapyramidal motor function, Chorea, Seizure,...	OMIM:615673
X-Linked Charcot-Marie-Tooth Disease Type 3	Difficulty walking, Inability to walk, Tremor, Gait disturbance, Decreased motor nerve conduction...	ORPHA:101077
Spastic Paraplegia 39, Autosomal Recessive	Babinski sign, Atrophy of the spinal cord, Cerebellar atrophy, Gait disturbance, Ataxia, Progress...	OMIM:612020
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Dysdiadochokinesis, Gait ataxia, Int...	ORPHA:504476
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Impaired proprioception, Bone spicule pigmentation of the retina, Truncal titubation, Axonal dege...	ORPHA:88628
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Cerebral atrophy, Tremor, Ataxia	OMIM:618637
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Gómez-López-Hernández Syndrome	Corneal opacity	ORPHA:1532
Dystonia 1, Torsion, Autosomal Dominant	Babinski sign, Hypertonia, Oromandibular dystonia, Writer's cramp, Torticollis, Inability to walk...	OMIM:128100
Aceruloplasminemia	Limb ataxia, Akinesia, Torticollis, Abnormal dentate nucleus morphology, Chorea, Macular degenera...	ORPHA:48818
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Late-Infantile/Juvenile Krabbe Disease	Acroparesthesia, Delayed brainstem auditory evoked response conduction time, Decreased nerve cond...	ORPHA:206443
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Dystonia, Myoclonus	OMIM:619651
Gerstmann-Straussler Disease	Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Gait ...	OMIM:137440
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Titubation, Head tremor, Gait ataxia, Somatic sensory dysfunction, Dysmetria	ORPHA:98771
Neurodegeneration With Brain Iron Accumulation 1	Rigidity, Ataxia, Optic atrophy, Babinski sign, Akinesia, Tremor, Blepharospasm, Cerebral degener...	OMIM:234200
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Babinski sign, Difficulty walking, Broad-based gait, Seizure, Tremor, Spastic paraplegia, Febrile...	ORPHA:477673
Mohr-Tranebjaerg Syndrome	Optic atrophy, Babinski sign, Global brain atrophy, Oromandibular dystonia, Generalized dystonia,...	ORPHA:52368
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Difficulty walking, Focal-onset seizure, Chiari type I malformation, Dandy-Walker ...	OMIM:618476
Cataract-Ataxia-Deafness Syndrome	Hypertonia, Decreased nerve conduction velocity, Ataxia, Tremor	ORPHA:1368
Spinocerebellar Ataxia 21	Limb ataxia, Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor functio...	OMIM:607454
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Hypertonia, Truncal titubation, Limb hypertonia, Seizure, Tremor, Cerebellar atrophy, Exaggerated...	OMIM:618056
Adult-Onset Autosomal Dominant Leukodystrophy	Spastic gait, Atrophy/Degeneration affecting the brainstem, Impaired distal vibration sensation, ...	ORPHA:99027
Kufor-Rakeb Syndrome	Bradykinesia, Babinski sign, Hypertonia, Akinesia, Distal sensory impairment, Torticollis, Spasti...	OMIM:606693
Cerebral Visual Impairment	Optic atrophy, Oculomotor apraxia, Optic nerve hypoplasia, Clumsiness, Seizure, Central nervous s...	ORPHA:447788
Developmental And Epileptic Encephalopathy 46	Cerebral atrophy, Limb hypertonia, Seizure, Tremor, Generalized-onset seizure	OMIM:617162
Phenylketonuria	Seizure, Tremor, Ataxia, Lower limb spasticity	ORPHA:716
Dystonia 12	Bradykinesia, Torticollis, Tremor, Dystonia, Unsteady gait, Parkinsonism	OMIM:128235
Amyotrophic Lateral Sclerosis 4, Juvenile	Babinski sign, Difficulty walking, Decreased compound muscle action potential amplitude, Axonal d...	OMIM:602433
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication	OMIM:610297
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Hypertonia, Photosensitive myoclonic seizure, Tremor, Gait disturbance, Cerebral cortical atrophy...	ORPHA:1192
Multiple System Atrophy 1, Susceptibility To	Bradykinesia, Babinski sign, Orthostatic hypotension, Tremor, Abnormal autonomic nervous system p...	OMIM:146500
Tay-Sachs Disease	Fasciculations, Incoordination, Decerebrate rigidity, Cerebellar atrophy, Myoclonus, Clumsiness, ...	ORPHA:845
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Difficulty walking, Spastic dysarthria, Progressive cerebellar ataxia, Spinocerebe...	ORPHA:95433
Spinocerebellar Ataxia Type 42	Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Resting tremor, Cerebellar v...	ORPHA:458803
Adrenoleukodystrophy	Limb ataxia, Impaired vibration sensation at ankles, Incoordination, Truncal ataxia, Seizure, Par...	OMIM:300100
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Primary Dystonia, Dyt2 Type	Difficulty walking, Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involunt...	ORPHA:99657
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Hypertonia, Inability to walk, Seizure, Tremor, Ataxia, Cerebellar hypoplasia	OMIM:619556
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Bradykinesia, Nocturnal seizures, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Bi...	OMIM:619725
Hyperphenylalaninemia, Bh4-Deficient, A	Bradykinesia, Hypertonia, Limb hypertonia, Seizure, Tremor, Rigidity, Dystonia, Ataxia, Parkinson...	OMIM:261640
Parkinson Disease 14, Autosomal Recessive	Frontotemporal cerebral atrophy, Pill-rolling tremor, Global brain atrophy, Eyelid myoclonus, Bra...	OMIM:612953
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormal seventh cranial physiology, Limb fasciculations, Distal sensory impairment, Inability to...	ORPHA:90117
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Inferior cerebellar vermis hypoplasia, Limb hypertonia, Fasciculations, Brain atrophy, Tremor, Ce...	OMIM:620327
Parkinsonism-Dystonia 1, Infantile-Onset	Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor...	OMIM:613135
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
Mucolipidosis Iv	Opacification of the corneal stroma, Corneal opacity	OMIM:252650
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Limb ataxia, Pontocerebellar atrophy, Impaired proprioception, Oculomotor apraxia, Chorea, Tremor...	OMIM:606002
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Cerebral atrophy, Babinski sign, Tip-toe gait, Tremor, Abnormal optic nerve morphology, Gait dist...	ORPHA:83629
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
X-Linked Dystonia-Parkinsonism	Bradykinesia, Difficulty walking, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with fav...	ORPHA:53351
Jaberi-Elahi Syndrome	Optic atrophy, Inability to walk, Appendicular spasticity, Broad-based gait, Dandy-Walker malform...	OMIM:617988
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased distal sensory nerve action potential, Decreased sensory nerve conduction velocity, Dec...	ORPHA:206594
Congenital Disorder Of Glycosylation, Type Ie	Optic atrophy, Pontocerebellar atrophy, Seizure, Tremor, Retinopathy, Ataxia, Abnormal macular mo...	OMIM:608799
Combined Oxidative Phosphorylation Deficiency 54	Hypertonia, Seizure, Tremor, Generalized-onset seizure, Hemiparesis, Impaired vibratory sensation...	OMIM:619737
Coenzyme Q10 Deficiency, Primary, 1	Right hemiplegia, Seizure, Tremor, Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Loss of ...	OMIM:607426
Brachyolmia Type 1, Hobaek Type	Opacification of the corneal stroma, Corneal opacity	OMIM:271530
Multiple System Atrophy	Bradykinesia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Abnormal autonomic n...	ORPHA:102
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Developmental cataract, Corneal opacity	OMIM:618815
Epilepsy, Familial Adult Myoclonic, 2	Enhancement of the C-reflex, Tremor, Blepharospasm, Bilateral tonic-clonic seizure, Ataxia, Giant...	OMIM:607876
Gelatinous Drop-Like Corneal Dystrophy	Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacities, Central op...	ORPHA:98957
Neuroferritinopathy	Bradykinesia, Babinski sign, Caudate atrophy, Difficulty walking, Writer's cramp, Leg dystonia, R...	ORPHA:157846
Oculopharyngodistal Myopathy 3	Tremor, Ataxia, Pigmentary retinopathy	OMIM:619473
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata	OMIM:609141
Atopic Keratoconjunctivitis	Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ...	ORPHA:163934
Basal Ganglia Disease, Biotin-Thiamine Responsive	Babinski sign, Hypertonia, Truncal titubation, Inability to walk, Chorea, Seizure, Facial palsy, ...	OMIM:607483
Sialidosis Type 2	Seizure, Abnormal macular morphology, Tremor, Ataxia	ORPHA:87876
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Optic atrophy, Cerebral atrophy, Babinski sign, Resting tremor, Atrophy/Degeneration affecting th...	ORPHA:314404
Corneal Dystrophy, Posterior Amorphous	Corneal dystrophy, Ectopia pupillae, Iris coloboma	OMIM:612868
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Optic atrophy, Cerebral atrophy, Seizure, Gait disturbance, Gait ataxia, Clonus, Dystonia, Ataxia...	OMIM:616878
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Inability to walk, Brain atrophy, Seizure, Spasticity, Tremor	OMIM:618718
Leber Optic Atrophy	Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Dystonia, Ataxia, Le...	OMIM:535000
Ataxia With Vitamin E Deficiency	Impaired proprioception, Progressive cerebellar ataxia, Positive Romberg sign, Dysdiadochokinesis...	OMIM:277460
Norrie Disease	Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar...	OMIM:310600
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebral atrophy, Difficulty walking, Limb hypertonia, Cerebellar vermis hypoplasia, Seizure, Tre...	ORPHA:572798
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Babinski sign, Gait imbalance, Oculomotor apraxia, Cerebellar vermis atrophy, Head tremor, Dyston...	ORPHA:64753
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Bradykinesia, Oculogyric crisis, Limb hypertonia, Seizure, Tremor, Cerebral palsy, Rigidity, Dyst...	ORPHA:70594
Brain Dopamine-Serotonin Vesicular Transport Disease	Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Shuffling gait, ...	ORPHA:352649
Congenital Primary Aphakia	Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, C...	ORPHA:83461
Atypical Progressive Supranuclear Palsy Syndrome	Bradykinesia, Oculomotor apraxia, Falls, Tremor by anatomical site, Extrapyramidal muscular rigid...	ORPHA:99750
Autosomal Dominant Spastic Paraplegia Type 9A	Spastic gait, Babinski sign, Spastic dysarthria, Abnormality of pain sensation, Falls, Impaired v...	ORPHA:447753
Spastic Paraplegia 9A, Autosomal Dominant	Spastic gait, Hoffmann sign, Babinski sign, Lower limb spasticity, Abnormal upper motor neuron mo...	OMIM:601162
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Seizure, Tremor, Shuffling ga...	OMIM:300055
Syngap1-Related Developmental And Epileptic Encephalopathy	Abnormality of pain sensation, Myoclonic absence seizure, Tremor, Generalized-onset seizure, Gait...	ORPHA:544254
Parkinson Disease 17	Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism	OMIM:614203
Spinocerebellar Ataxia 27A	Limb ataxia, Abnormal vestibulo-ocular reflex, Cerebellar atrophy, Gait ataxia, Postural tremor, ...	OMIM:193003
Erythrokeratodermia Variabilis	Cataract, Corneal opacity	ORPHA:317
Pyruvate Dehydrogenase E1-Alpha Deficiency	Cerebral atrophy, Seizure, Tremor, Episodic ataxia, Dystonia, Myoclonus, Choreoathetosis	OMIM:312170
Spastic Paraplegia 9B, Autosomal Recessive	Babinski sign, Tetraplegia, Tremor, Spasticity, Impaired distal vibration sensation, Gait disturb...	OMIM:616586
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Bradykinesia, Falls, Tremor, Parkinsonism with favorable response to dopaminergic medication, Rig...	ORPHA:240085
Cataract 23, Multiple Types	Lamellar cataract, Microcornea, Nuclear cataract	OMIM:610425
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Hyperkinetic movements, Seizure, Tremor, Gait disturbance, Bilateral tonic-clonic seizure, Cerebe...	ORPHA:457240
Intellectual Developmental Disorder, X-Linked 12	Hyperkinetic movements, Cerebellar vermis hypoplasia, Spasticity, Tremor, Seizure, Gait disturban...	OMIM:300957
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Cerebral atrophy, Generalized dystonia, Chorea, Seizure, Infantile spasms, Gait ataxia, Dystonia,...	OMIM:618321
Dystonia 13, Torsion, Autosomal Dominant	Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim...	OMIM:607671
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur...	ORPHA:420485
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Global brain atrophy, Torticollis, Brain atrophy, Seizure, Tremor, Cerebellar edema, Rigidity, At...	OMIM:617186
Saccharopinuria	Distal sensory impairment, Seizure, Tremor, Gait ataxia, Spastic diplegia	ORPHA:3124
Myopathy, Mitochondrial, And Ataxia	Limb ataxia, Difficulty walking, Distal sensory impairment, Inability to walk, Truncal ataxia, Dy...	OMIM:617675
Amyloidosis, Hereditary, Transthyretin-Related	Limb ataxia, Paraplegia, Truncal ataxia, Spasticity, Tremor, Positive Romberg sign, Abnormal auto...	OMIM:105210
Glutaryl-Coa Dehydrogenase Deficiency	Chorea, Seizure, Tremor, Pallidal degeneration, Athetosis, Limb dystonia, Retinal hemorrhage, Poo...	ORPHA:25
Wolfram Syndrome 1	Optic atrophy, Cerebral atrophy, Seizure, Tremor, Ataxia, Pigmentary retinopathy	OMIM:222300
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Astigmatism, Myopic astigmatism, Microcornea, Corneal opacity, Cataract	OMIM:152950
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Fasciculations, Cerebellar atrophy, Abnormal motor nerve conduction velocity, Impaired vibratory ...	ORPHA:466768
Cerebrooculofacioskeletal Syndrome 1	Brain atrophy, Seizure, Cerebellar atrophy, Diffuse cerebral atrophy, Cerebellar hypoplasia, Neur...	OMIM:214150
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Leukocoria...	OMIM:221900
Sialidosis Type 1	Decreased nerve conduction velocity, Seizure, Tremor, Gait disturbance, Retinopathy, Ataxia, Cher...	ORPHA:812
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Broad-based gait, Resting tremor, Seizure, Tremor, Shuffling gait, Parkins...	ORPHA:3077
Dermochondrocorneal Dystrophy	Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract	OMIM:221800
Cystathioninuria	Seizure, Tremor	ORPHA:212
Spontaneous Periodic Hypothermia	Seizure, Tremor, Ataxia, Gait disturbance	ORPHA:29822
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Megalocornea	ORPHA:2741
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Difficulty walking, Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Pigmentary retinop...	ORPHA:502423
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebral atrophy, Hyperkinetic movements, Difficulty walking, Inability to walk, Chorea, Truncal ...	OMIM:615356
Harel-Yoon Syndrome	Developmental cataract, Corneal opacity	OMIM:617183
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Parkinson Disease, Late-Onset	Bradykinesia, Resting tremor, Neuronal loss in central nervous system, Tremor, Abnormal autonomic...	OMIM:168600
Tremor, Nystagmus, And Duodenal Ulcer	Abnormal cerebellum morphology, Kinetic tremor, Tremor	OMIM:190310
Myoclonic-Astatic Epilepsy	Generalized non-motor (absence) seizure, Simple febrile seizure, Focal-onset seizure, Generalized...	ORPHA:1942
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Antecubital pterygium, Corneal opacity	OMIM:619339
Parkinson Disease 7, Autosomal Recessive Early-Onset	Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ...	OMIM:606324
Hyperphenylalaninemia, Bh4-Deficient, B	Hyperkinetic movements, Limb hypertonia, Seizure, Tremor, Rigidity, Dystonia, Choreoathetosis	OMIM:233910
Amyotrophic Lateral Sclerosis	Babinski sign, Fasciculations, Spasticity, Motor neuron atrophy, Amyotrophic lateral sclerosis, P...	ORPHA:803
Joubert Syndrome With Ocular Defect	Aganglionic megacolon, Oculomotor apraxia, Retinal dystrophy, Cerebellar vermis hypoplasia, Seizu...	ORPHA:220493
Adult-Onset Dystonia-Parkinsonism	Frontotemporal cerebral atrophy, Bradykinesia, Generalized cerebral atrophy/hypoplasia, Parkinson...	ORPHA:199351
Fish-Eye Disease	Corneal opacity	ORPHA:79292
Pyruvate Dehydrogenase Deficiency	Spasticity, Tremor, Seizure, Cerebral palsy, Gait disturbance, Dystonia, Ataxia, Abnormal pyramid...	ORPHA:765
Congenital Bile Acid Synthesis Defect Type 4	Seizure, Tremor, Ataxia, Pigmentary retinopathy	ORPHA:79095
Ataxia-Telangiectasia-Like Disorder 2	Unsteady gait, Neurodegeneration, Cerebellar atrophy, Ataxia	OMIM:615919
Congenital Rubella Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:290
Asparagine Synthetase Deficiency	Global brain atrophy, Hypertonia, Limb hypertonia, Cerebellar vermis hypoplasia, Optic nerve hypo...	OMIM:615574
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Parkinson Disease 20, Early-Onset	Bradykinesia, Tremor, Shuffling gait, Gait disturbance, Involuntary movements, Cerebral cortical ...	OMIM:615530
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity	OMIM:613153
Glutathionuria	Action tremor, Dysdiadochokinesis, Tremor	OMIM:231950
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Seizure, Neurodegeneration	OMIM:620210
Sneddon Syndrome	Seizure, Tremor, Facial palsy, Impaired distal tactile sensation, Hemiplegia	OMIM:182410
Parkinson Disease 23, Autosomal Recessive Early-Onset	Akinesia, Resting tremor, Spasticity, Abnormal autonomic nervous system physiology, Limb dystonia...	OMIM:616840
Short Syndrome	Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post...	ORPHA:3163
Mietens Syndrome	Cataract, Microcornea, Sclerocornea, Corneal opacity	ORPHA:2557
Multicentric Carpotarsal Osteolysis Syndrome	Corneal opacity	OMIM:166300
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Alpha-Mannosidosis	Cataract, Corneal opacity	ORPHA:61
Parkinson Disease 1, Autosomal Dominant	Bradykinesia, Global brain atrophy, Resting tremor, Shuffling gait, Gait disturbance, Rigidity, D...	OMIM:168601
Sjogren-Larsson Syndrome	Opacification of the corneal epithelium, Astigmatism	OMIM:270200
3-Methylglutaconic Aciduria, Type Viib	Cerebral atrophy, Hyperkinetic movements, Spasticity, Tremor, Cerebellar atrophy, Seizure, Dyston...	OMIM:616271
Hurler-Scheie Syndrome	Corneal opacity	ORPHA:93476
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Babinski sign, Spasticity, Tremor, Spastic paraplegia, Ataxia, Dysmetria, Optic disc pallor	OMIM:618527
Chediak-Higashi Syndrome	Decreased nerve conduction velocity, Seizure, Tremor, Gait disturbance, Ataxia, Neurodegeneration...	OMIM:214500
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Generalized-onset seizure, Cerebellar atrophy, Intention tremor, Action tremor, Gait ataxia, Unst...	OMIM:254900
Microphthalmia/Coloboma 9	Ocular anterior segment dysgenesis, Sclerocornea, Microcornea, Iris coloboma	OMIM:615145
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Developmental glaucoma, Corneal opacity, Aniridia	ORPHA:1064
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Corneal opacity, Conjunctivitis	OMIM:602562
Classic Progressive Supranuclear Palsy Syndrome	Bradykinesia, Akinesia, Gait imbalance, Axial dystonia, Progressive extrapyramidal muscular rigid...	ORPHA:240071
Early Infantile Epileptic Encephalopathy	Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal-onset seizure, Spastic...	ORPHA:1934
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity	ORPHA:281090
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Ectodermal Dysplasia-Blindness Syndrome	Corneal dystrophy, Microcornea, Sclerocornea, Cataract, Keratoconjunctivitis sicca	ORPHA:1806
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Fasciculations, Impaired pain sensation, Tremor, Impaired distal ...	OMIM:619574
Osteoporosis-Pseudoglioma Syndrome	Corneal opacity	ORPHA:2788
Persistent Hyperplastic Primary Vitreous	Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Developmen...	ORPHA:91495
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Ataxia, Retinal dystrophy	ORPHA:713
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity	ORPHA:1867
Angelman Syndrome	Optic atrophy, Generalized myoclonic seizure, Inability to walk, Broad-based gait, Seizure, Tremo...	ORPHA:72
Nipah Virus Disease	Seizure, Tremor, Myoclonus	ORPHA:99825
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Corneal opacity	ORPHA:496790
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Fasciculations, Tremor, Shuffling gait, Waddling gait, Loss of ambulation	ORPHA:209335
Rodrigues Blindness	Microcornea, Sclerocornea	OMIM:268320
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma	OMIM:271630
Progressive Supranuclear Palsy	Bradykinesia, Falls, Neuronal loss in central nervous system, Tremor, Blepharospasm, Cerebral cor...	ORPHA:683
O'Sullivan-Mcleod Syndrome	Fasciculations, Atrophy of the spinal cord, Tremor	ORPHA:99965
Hypermanganesemia With Dystonia 1	Bradykinesia, Steppage gait, Abnormality of extrapyramidal motor function, Poor fine motor coordi...	OMIM:613280
Olmsted Syndrome 1	Opacification of the corneal stroma, Corneal opacity	OMIM:614594
Parkinson-Dementia Syndrome	Abnormal pyramidal sign, Rigidity, Tremor, Parkinsonism	OMIM:260540
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar vermis hypoplasia, Seizure, Tremor, Cerebellar atrophy, Generalized-onset seizure, Int...	OMIM:212065
Combined Oxidative Phosphorylation Deficiency 15	Optic atrophy, Incoordination, Seizure, Tremor, Bilateral tonic-clonic seizure with focal onset, ...	OMIM:614947
Supranuclear Palsy, Progressive, 1	Cerebral atrophy, Bradykinesia, Senile plaques, Akinesia, Gait imbalance, Axial dystonia, Retroco...	OMIM:601104
Dystonia 2, Torsion, Autosomal Recessive	Torsion dystonia, Tremor, Blepharospasm, Torticollis	OMIM:224500
Microphthalmia With Brain And Digit Anomalies	Cataract, Microcornea, Sclerocornea, Iris coloboma	ORPHA:139471
Niemann-Pick Disease Type C	Focal-onset seizure, Chorea, Limb dystonia, Ataxia, Myoclonus, Clumsiness, Axial dystonia, Seizur...	ORPHA:646
Joubert Syndrome With Renal Defect	Aganglionic megacolon, Oculomotor apraxia, Cerebellar vermis hypoplasia, Seizure, Tremor, Gait di...	ORPHA:220497
Ophthalmomandibulomelic Dysplasia	Opacification of the corneal stroma, Megalocornea	OMIM:164900
Joubert Syndrome	Aganglionic megacolon, Oculomotor apraxia, Cerebellar vermis hypoplasia, Seizure, Tremor, Gait di...	ORPHA:475
Joubert Syndrome With Hepatic Defect	Oculomotor apraxia, Cerebellar vermis hypoplasia, Seizure, Tremor, Gait disturbance, Ataxia, Chor...	ORPHA:1454
Cystinosis, Adult Nonnephropathic	Corneal crystals	OMIM:219750
Japanese Encephalitis	Pill-rolling tremor, Hypertonia, Paralysis, Respiratory paralysis, Abnormality of extrapyramidal ...	ORPHA:79139
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Inability to walk, Broad-based gait, Axonal degeneration, Vocal cord paralysis, Decreased motor n...	OMIM:615490
Lcat Deficiency	Corneal opacity	ORPHA:650
Charcot-Marie-Tooth Disease Type 4B2	Optic atrophy, Decreased distal sensory nerve action potential, Tip-toe gait, Difficulty walking,...	ORPHA:99956
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Generalized non-motor (absence) seizure, Epileptic spasm, Hypertonia, Focal-onset seizure, Cerebe...	OMIM:620455
Dpagt1-Cdg	Optic atrophy, Epileptic spasm, Global brain atrophy, Hypertonia, Akinesia, Inability to walk, Ge...	ORPHA:86309
Mucopolysaccharidosis, Type Ii	Seizure, Papilledema, Abnormality of retinal pigmentation, Neurodegeneration	OMIM:309900
Oculomaxillofacial Dysostosis	Corneal opacity	ORPHA:1794
Aniridia 1	Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, Anterior subcapsul...	OMIM:106210
Distal Deletion 6P	Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto...	ORPHA:96125
Insensitivity To Pain, Congenital, With Anhidrosis	Recurrent corneal erosions, Corneal ulceration, Corneal scarring, Keratitis, Opacification of the...	OMIM:256800
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Corneal opacity	OMIM:620469
Al-Gazali Syndrome	Sclerocornea, Corneal opacity	OMIM:609465
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Microcornea, Posterior embryotoxon, D...	OMIM:612109
Microphthalmia/Coloboma 12	Peters anomaly, Corneal opacity	OMIM:120200
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Bartsocas-Papas Syndrome	Popliteal pterygium, Corneal opacity	ORPHA:1234
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Seizure, Decreased nerve conduction velocity, Tremor	ORPHA:397744
Alpha-Mannosidosis, Adult Form	Cataract, Corneal opacity	ORPHA:309288
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Zellweger Syndrome	Cataract, Posterior embryotoxon, Corneal opacity, Brushfield spots	ORPHA:912
Lowry-Maclean Syndrome	Developmental glaucoma, Corneal opacity, Megalocornea	ORPHA:2409
Autosomal Dominant Optic Atrophy And Cataract	Optic atrophy, Resting tremor, Positive Romberg sign, Extrapyramidal muscular rigidity, Cerebella...	ORPHA:67036
Mucolipidosis Type Iv	Corneal opacity	ORPHA:578
Walker-Warburg Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma	ORPHA:899
8Q21.11 Microdeletion Syndrome	Cataract, Iris hypopigmentation, Sclerocornea, Corneal opacity	ORPHA:284160
Alternating Hemiplegia Of Childhood	Paroxysmal dyskinesia, Oculomotor apraxia, Chorea, Focal motor seizure, Tremor, Seizure, Abnormal...	ORPHA:2131
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Optic atrophy, Retinal telangiectasia, Abnormality of extrapyramidal motor function, Spasticity, ...	OMIM:612199
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Astigmatism, Corneal opacity	OMIM:301056
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma	OMIM:230650
Congenital Sialidosis Type 2	Cataract, Developmental cataract, Corneal opacity	ORPHA:93400
Juvenile Sialidosis Type 2	Cataract, Corneal opacity	ORPHA:93399
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Scheie Syndrome	Corneal opacity	ORPHA:93474
Wagro Syndrome	Cataract, Corneal opacity, Aniridia	OMIM:612469
Oculocerebrocutaneous Syndrome	Corneal opacity, Iris coloboma	ORPHA:1647
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Conjunctival hyperemia, Corneal opacity	ORPHA:2399
Parkinson Disease 21	Bradykinesia, Rigidity, Tremor, Parkinsonism	OMIM:616361
Cutis Laxa, Autosomal Dominant 3	Developmental cataract, Corneal opacity	OMIM:616603
Multiple Sulfatase Deficiency	Cataract, Corneal opacity	ORPHA:585
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Oculomotor apraxia, Spasticity, Tremor, Seizure, Frequent falls, Dystonia, Ata...	OMIM:612716
Metachromatic Leukodystrophy	Tip-toe gait, Decreased nerve conduction velocity, Incoordination, Decerebrate rigidity, Tremor, ...	ORPHA:512
Autosomal Dominant Progressive External Ophthalmoplegia	Bradykinesia, Hypertonia, Resting tremor, Abnormality of extrapyramidal motor function, Seizure, ...	ORPHA:254892
Chédiak-Higashi Syndrome	Decreased nerve conduction velocity, Inability to walk, Brain atrophy, Seizure, Atrophy of the sp...	ORPHA:167
Cystinosis	Corneal opacity	ORPHA:213
Scheie Syndrome	Corneal opacity	OMIM:607016
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
Familial Dysautonomia	Abnormal pupil morphology, Heterochromia iridis, Corneal opacity, Corneal erosion	ORPHA:1764
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Focal-onset seizure, Cerebral palsy, Head titubation, Ataxia, Tip-toe gait, Hypertonia, Broad-bas...	OMIM:619475
Mucopolysaccharidosis, Type Ivb	Opacification of the corneal stroma, Corneal opacity	OMIM:253010
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Aniridia, Iris coloboma	ORPHA:251038
Pelvis-Shoulder Dysplasia	Opacification of the corneal stroma, Iris coloboma	OMIM:169550
Combined Oxidative Phosphorylation Deficiency 3	Optic atrophy, Seizure, Tremor, Optic neuropathy, Bilateral tonic-clonic seizure, Dystonia, Ataxia	OMIM:610505
Chromosome 6Pter-P24 Deletion Syndrome	Ocular anterior segment dysgenesis, Axenfeld anomaly, Posterior embryotoxon, Opacification of the...	OMIM:612582
Mucolipidosis Type Iii Alpha/Beta	Corneal opacity	ORPHA:423461
Sanjad-Sakati Syndrome	Astigmatism, Corneal opacity	ORPHA:2323
Hurler-Scheie Syndrome	Corneal opacity	OMIM:607015
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cataract, Iris hypopigmentation, Corneal opacity, Ocular albinism	ORPHA:2719
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma	OMIM:215250
Gm1 Gangliosidosis	Corneal opacity	ORPHA:354
Triosephosphate Isomerase Deficiency	Cerebral atrophy, Spasticity, Tremor, Dystonia, Unsteady gait, Optic disc pallor	OMIM:615512
Farber Disease	Opacification of the corneal stroma, Corneal opacity, Abnormal conjunctiva morphology	ORPHA:333
Fucosidosis	Corneal opacity	ORPHA:349
Axenfeld-Rieger Syndrome, Type 2	Opacification of the corneal stroma, Microcornea, Anterior chamber synechiae	OMIM:601499
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Microcornea, Sclerocornea, Ectopia pupillae	OMIM:615877
Schimke Immuno-Osseous Dysplasia	Corneal opacity	ORPHA:1830
Ataxia-Telangiectasia	Progressive cerebellar ataxia, Inability to walk, Dysdiadochokinesis, Tremor, Seizure, Intention ...	OMIM:208900
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma	OMIM:256540
Mucopolysaccharidosis Type 7	Corneal opacity	ORPHA:584
Cockayne Syndrome A	Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Seizure, Retinal atrophy, C...	OMIM:216400
Stromme Syndrome	Microcornea, Sclerocornea, Cataract, Peters anomaly, Iris coloboma	OMIM:243605
Multiple Sulfatase Deficiency	Corneal opacity	OMIM:272200
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Corneal crystals	OMIM:210370
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Sclerocornea	ORPHA:2095
Aprosencephaly And Cerebellar Dysgenesis	Cerebellar dysplasia, Poorly formed metencephalon, Retinal dysplasia	OMIM:601374
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Sclerocornea, Iris coloboma	ORPHA:77298
Complex Regional Pain Syndrome	Allodynia	ORPHA:83452
Schimmelpenning-Feuerstein-Mims Syndrome	Corneal opacity	OMIM:163200
Hurler Syndrome	Opacification of the corneal stroma, Corneal opacity	OMIM:607014
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Corneal opacity, Megalocornea, Cataract, Buphthalmos, Peters anomaly	OMIM:236670
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Lens subluxation, Corneal opacity, Ectopia pupillae	ORPHA:85167
Mucopolysaccharidosis Type 4	Corneal opacity	ORPHA:582
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma	ORPHA:425
Focal Dermal Hypoplasia	Ectopia lentis, Iris coloboma, Corneal opacity, Hypoplasia of the iris	ORPHA:2092
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Lens subluxation, Corneal opacity, Ectopia pupillae	OMIM:608940
Gomez-Lopez-Hernandez Syndrome	Opacification of the corneal stroma	OMIM:601853
Spondyloepiphyseal Dysplasia, Maroteaux Type	Opacification of the corneal stroma	OMIM:184095
Encephalocraniocutaneous Lipomatosis	Limbal dermoid, Sclerocornea, Hypoplasia of the iris	OMIM:613001
Tangier Disease	Opacification of the corneal stroma	OMIM:205400
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity	OMIM:259600
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Corneal opacity	OMIM:601812
Mucopolysaccharidosis, Type Vii	Corneal opacity	OMIM:253220
Wilson Disease	Kayser-Fleischer ring	ORPHA:905
De Barsy Syndrome	Cataract, Corneal opacity	ORPHA:2962
Trigeminal Neuralgia	Allodynia	ORPHA:221091
Incontinentia Pigmenti	Cataract, Corneal opacity, Keratitis	ORPHA:464
Mosaic Trisomy 9	Corneal opacity	ORPHA:99776
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Corneal crystals	OMIM:219900
Pseudo-Torch Syndrome 1	Cataract, Opacification of the corneal stroma	OMIM:251290
Mosaic Trisomy 8	Corneal opacity	ORPHA:96061
Mucopolysaccharidosis Type 1	Corneal opacity	ORPHA:579
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Hypertonia, Tremor, Spasticity, Rigidity	OMIM:176500
Fryns Syndrome	Corneal opacity	ORPHA:2059
Mucopolysaccharidosis Type 3	Cataract, Opacification of the corneal stroma, Corneal opacity	ORPHA:581
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Opacification of the corneal stroma, Brushfield spots	OMIM:214110
Spondylodysplastic Ehlers-Danlos Syndrome	Posterior subcapsular cataract, Corneal opacity, Megalocornea, Iris coloboma	ORPHA:536471
Pudendal Neuralgia	Allodynia	ORPHA:60039
Alpha-Mannosidosis, Infantile Form	Cataract, Astigmatism, Corneal opacity	ORPHA:309282
Tbck-Related Intellectual Disability Syndrome	Corneal opacity	ORPHA:488632
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Corneal opacity	OMIM:620519
Mucoepithelial Dysplasia, Hereditary	Cataract, Opacification of the corneal stroma, Corneal neovascularization, Keratoconjunctivitis	OMIM:158310
3Mc Syndrome 3	Corneal opacity	OMIM:248340
Fabry Disease	Cornea verticillata, Corneal dystrophy, Corneal opacity, Conjunctival telangiectasia, Cataract	ORPHA:324
Hurler Syndrome	Corneal opacity	ORPHA:93473
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea	OMIM:614230
Histiocytoid Cardiomyopathy	Megalocornea, Corneal opacity, Congenital aphakia	ORPHA:137675
Anterior Cutaneous Nerve Entrapment Syndrome	Allodynia	ORPHA:51890
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity	ORPHA:364577
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Astigmatism, Corneal opacity	ORPHA:464311
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity, Hypoplasia of t...	OMIM:175780
Nijmegen Breakage Syndrome	Retinal pigment epithelial mottling, Neurodegeneration	OMIM:251260
Carpenter Syndrome 1	Opacification of the corneal stroma, Microcornea	OMIM:201000
Dyrk1A-Related Intellectual Disability Syndrome	Astigmatism, Corneal opacity	ORPHA:464306
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Moebius Syndrome	Corneal opacity	ORPHA:570
Congenital Disorder Of Deglycosylation 1	Corneal opacity, Corneal ulceration	OMIM:615273
Mucolipidosis Iii Gamma	Opacification of the corneal stroma	OMIM:252605
Mosaic Variegated Aneuploidy Syndrome	Cataract, Corneal opacity	ORPHA:1052
Spinal Cord Injury	Allodynia	ORPHA:90058
Schimke Immunoosseous Dysplasia	Opacification of the corneal stroma, Astigmatism	OMIM:242900
Mucopolysaccharidosis, Type Vi	Corneal opacity	OMIM:253200
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Peters anomaly, Sclerocornea, Iris coloboma	OMIM:309801
Encephalocraniocutaneous Lipomatosis	Corneal opacity, Iris coloboma	ORPHA:2396
Oculocerebrorenal Syndrome Of Lowe	Corneal opacity, Cataract, Buphthalmos, Abnormal pupil morphology, Lentiglobus	ORPHA:534
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity	ORPHA:79396
Mucolipidosis Iii Alpha/Beta	Opacification of the corneal stroma, Hyperopic astigmatism	OMIM:252600
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Parkinsonism	ORPHA:1578
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea	OMIM:300952
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Buphthalmos, Corneal dystrophy, Corneal opacity, Keratoconjunctivitis sicca	ORPHA:495875
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Hypoplasia of the iris, Ectopia lentis, Scleroco...	ORPHA:649
Ablepharon Macrostomia Syndrome	Corneal opacity, Corneal erosion	ORPHA:920
Microphthalmia With Linear Skin Defects Syndrome	Posterior embryotoxon, Sclerocornea, Corneal opacity	ORPHA:2556
Mucopolysaccharidosis Type 6	Opacification of the corneal stroma	ORPHA:583
Phace Syndrome	Heterochromia iridis, Sclerocornea, Lens coloboma, Cataract, Iris coloboma	ORPHA:42775
Thrombocytopenia-Absent Radius Syndrome	Cataract, Corneal opacity	OMIM:274000
Lathosterolosis	Cataract, Opacification of the corneal stroma, Microcornea	ORPHA:46059
Mucopolysaccharidosis, Type Iva	Opacification of the corneal stroma	OMIM:253000
Larsen Syndrome	Corneal opacity	OMIM:150250
Peroxisome Biogenesis Disorder 1A (Zellweger)	Cataract, Opacification of the corneal stroma, Brushfield spots	OMIM:214100
Proboscis Lateralis	Cataract, Microcornea, Corneal opacity, Iris coloboma	ORPHA:141099
Tangier Disease	Corneal opacity	ORPHA:31150
Chime Syndrome	Corneal opacity	ORPHA:3474
Oculoectodermal Syndrome	Limbal dermoid, Microcornea, Astigmatism, Opacification of the corneal stroma	OMIM:600268
Benign Schwannoma	Allodynia	ORPHA:252164
Peters Plus Syndrome	Microcornea, Corneal opacity, Cataract, Peters anomaly, Anterior chamber synechiae, Iris coloboma	ORPHA:709
Galloway-Mowat Syndrome 1	Cataract, Opacification of the corneal stroma, Hypoplasia of the iris	OMIM:251300
Kindler Epidermolysis Bullosa	Corneal opacity, Conjunctivitis	ORPHA:2908
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Astigmatism, Corneal erosion, Corneal opacity, Keratitis, Conjunctivitis	ORPHA:2273
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Opacification of the corneal stroma, Brushfield spots	OMIM:614866
Meckel Syndrome	Cataract, Microcornea, Aplasia/Hypoplasia of the iris, Sclerocornea	ORPHA:564
Limb Body Wall Complex	Lens subluxation, Corneal opacity, Iris coloboma	ORPHA:2369
Microphthalmia, Syndromic 3	Cataract, Sclerocornea	OMIM:206900
Neurofibromatosis Type 1	Cataract, Lisch nodules, Corneal opacity, Heterochromia iridis	ORPHA:636
Williams Syndrome	Corneal opacity, Megalocornea, Posterior embryotoxon, Flat cornea, Cataract, Aplasia/Hypoplasia o...	ORPHA:904
Mucopolysaccharidosis Type 2, Severe Form	Corneal opacity	ORPHA:217085
Mucopolysaccharidosis Type 2	Corneal opacity	ORPHA:580
Mosaic Trisomy 1	Opacification of the corneal stroma	ORPHA:1692
Mucopolysaccharidosis Type 2, Attenuated Form	Corneal opacity	ORPHA:217093
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Corneal opacity	OMIM:608670
Wolf-Hirschhorn Syndrome	Sclerocornea, Megalocornea, Iris coloboma	ORPHA:280
Smith-Lemli-Opitz Syndrome	Cataract, Sclerocornea, Iris coloboma	ORPHA:818
Osteogenesis Imperfecta	Corneal opacity	ORPHA:666
Autosomal Dominant Cutis Laxa	Developmental cataract, Corneal opacity	ORPHA:90348
Van Den Ende-Gupta Syndrome	Sclerocornea	OMIM:600920
Gaucher Disease, Type Iiic	Opacification of the corneal stroma	OMIM:231005
Xeroderma Pigmentosum	Pterygium, Conjunctival telangiectasia, Keratitis, Cataract, Opacification of the corneal stroma	ORPHA:910
Neurocardiofaciodigital Syndrome	Cataract, Sclerocornea	OMIM:619869
Stuve-Wiedemann Syndrome 1	Opacification of the corneal stroma	OMIM:601559
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Corneal opacity	ORPHA:2072
Mucolipidosis Ii Alpha/Beta	Opacification of the corneal stroma, Megalocornea	OMIM:252500
Gaucher Disease	Corneal opacity	ORPHA:355
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Axillary pterygium, Corneal ulceration, Pterygium, Opacification of the corn...	OMIM:263650
Fraser Syndrome 1	Corneal opacity	OMIM:219000
Cockayne Syndrome B	Opacification of the corneal stroma, Microcornea, Developmental cataract, Hypoplasia of the iris	OMIM:133540
Hutchinson-Gilford Progeria Syndrome	Corneal opacity, Corneal ulceration	ORPHA:740
Wilson Disease	Kayser-Fleischer ring, Sunflower cataract	OMIM:277900
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Allodynia	OMIM:603041
Hereditary Acrokeratotic Poikiloderma	Opacification of the corneal stroma, Keratoconjunctivitis	ORPHA:2907
Wiedemann-Rautenstrauch Syndrome	Cataract, Corneal opacity	ORPHA:3455
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma	ORPHA:79280
Yunis-Varon Syndrome	Cataract, Sclerocornea	ORPHA:3472
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Opacification of the corneal stroma, Buphthalmos, Megalocornea	OMIM:253280
Roberts-Sc Phocomelia Syndrome	Cataract, Opacification of the corneal stroma, Corneal opacity	OMIM:268300
Primrose Syndrome	Seizure, Neurodegeneration, Ataxia	OMIM:259050
Fryns Syndrome	Opacification of the corneal stroma	OMIM:229850
Digeorge Syndrome	Posterior embryotoxon, Sclerocornea	OMIM:188400
Microphthalmia, Syndromic 6	Microcornea, Sclerocornea	OMIM:607932
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent corneal erosions, Opacification of the corneal stroma, Corneal neovascularization, Kera...	OMIM:308205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Opacification of the corneal stroma	OMIM:615287
Yunis-Varon Syndrome	Cataract, Sclerocornea	OMIM:216340

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 Trim2

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 Trim2.

There are 12 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Trim21^{em1(IMPC)Wtsi} Trim25^{tm2a(EUCOMM)Hmgu} Trim25^{tm2b(EUCOMM)Hmgu} Trim29^{tm1a(EUCOMM)Wtsi} Trim29^{tm1b(EUCOMM)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Trim21^{em1(IMPC)Wtsi} Trim25^{tm2b(EUCOMM)Hmgu}	PMC7338221
RIPLET, and not TRIM25, is required for endogenous RIG-I-dependent antiviral responses.	Immunology and cell biology (August 2019)	Trim25^{tm2a(EUCOMM)Hmgu} Trim25^{tm2b(EUCOMM)Hmgu}	31335993
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Trim21^em1Wtsi Trim21^em2Wtsi Trim25^{tm2b(EUCOMM)Hmgu} Trim29^{tm1a(EUCOMM)Wtsi} Trim29^{tm1b(EUCOMM)Wtsi}	PMC6671969
Identification of the E3 Ligase TRIM29 as a Critical Checkpoint Regulator of NK Cell Functions.	Journal of immunology (Baltimore, Md. : 1950) (July 2019)	Trim29^{tm1c(EUCOMM)Wtsi} Trim29^{tm1a(EUCOMM)Wtsi}	PMC6684831
ATDC is required for the initiation of KRAS-induced pancreatic tumorigenesis.	Genes & development (May 2019)	Trim29^{tm1a(EUCOMM)Wtsi}	PMC6546061
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Trim21^em1Wtsi Trim25^{tm2b(EUCOMM)Hmgu} Trim29^{tm1a(EUCOMM)Wtsi} Trim29^{tm1b(EUCOMM)Wtsi}	PMC6459510
TRIM29 Negatively Regulates the Type I IFN Production in Response to RNA Virus.	Journal of immunology (Baltimore, Md. : 1950) (May 2018)	Trim29^{tm1a(EUCOMM)Wtsi}	PMC6092021
TRIM29 promotes DNA virus infections by inhibiting innate immune response.	Nature communications (October 2017)	Trim29^{tm1a(EUCOMM)Wtsi}	PMC5643338
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Trim21^em2Wtsi Trim25^{tm2b(EUCOMM)Hmgu} Trim29^{tm1b(EUCOMM)Wtsi} Trim29^{tm1a(EUCOMM)Wtsi}	PMC5827107
Identification of a role for TRIM29 in the control of innate immunity in the respiratory tract.	Nature immunology (October 2016)	Trim29^{tm1a(EUCOMM)Wtsi} Trim29^{tm1b(EUCOMM)Wtsi}	PMC5558830
A gene expression resource generated by genome-wide lacZ profiling in the mouse.	Disease models & mechanisms (August 2015)	Trim29^{tm1b(EUCOMM)Wtsi}	PMC4631787

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Trim2^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Trim2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Trim2^em1(IMPC)Bay	Exon Deletion	Mice
Trim2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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: Trim2 MGI:1933163

Gene Summary

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Phenotypes

lacZ Expression

Associated Images

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Human diseases caused by Trim2 mutations

Histopathology

IMPC related publications

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