Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

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
hypoalgesia		Trim2^em1(IMPC)Bay	HOM		Early adult	1.61×10^-05 *
corneal opacity		Trim2^em1(IMPC)Bay	HOM		Early adult	5.29×10^-05

Download data as: TSV XLS

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

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

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 Lateral Orientation

13 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

View images

Eye Morphology

VIP of left fundus

19 Images

View images

Eye Morphology

VIP of right eye

19 Images

View images

X-ray

XRay Images Skull Lateral Orientation

13 Images

View images

Eye Morphology

VIP of right fundus

19 Images

View images

Eye Morphology

VIP of left eye

19 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

View images

X-ray

XRay Images Forepaw

13 Images

View images

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 (768 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		Broad-based gait, Decreased motor nerve conduction velocity, Inability to walk, Axonal degenerati...	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	Babinski sign, Optic atrophy, Dysdiadochokinesis, Tremor	OMIM:311050
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, R...	OMIM:610951
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Ceroid Lipofuscinosis, Neuronal, 11	Optic atrophy, Cerebellar atrophy, Seizure, Ataxia, Generalized myoclonic seizure, Retinal dystrophy	OMIM:614706
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	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, Tremor, Seizure, Ataxia	OMIM:213000
Keratitis, Hereditary	Opacification of the corneal stroma, Keratitis	OMIM:148190
Olivopontocerebellar Atrophy-Deafness Syndrome	Optic atrophy, Cerebral cortical atrophy, Seizure, Chorioretinal coloboma, Olivopontocerebellar a...	ORPHA:2732
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:1490
Spinocerebellar Ataxia 43	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,...	OMIM:617018
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Optic atrophy, Myoclonic seizure, Cerebellar atrophy, Cerebral atrophy, Bilateral tonic-clonic se...	OMIM:611726
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ...	ORPHA:98769
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxi...	OMIM:614322
Ceroid Lipofuscinosis, Neuronal, 9	Optic atrophy, Seizure, Cerebral atrophy, Rigidity, Loss of ambulation, Rod-cone dystrophy, Ataxia	OMIM:609055
Ceroid Lipofuscinosis, Neuronal, 5	Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Increased neuronal autofluorescent lipopi...	OMIM:256731
Epilepsy, Progressive Myoclonic 7	Myoclonic seizure, Cerebellar atrophy, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia	OMIM:616187
Spinocerebellar Ataxia 37	Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls	OMIM:615945
Spinocerebellar Ataxia Type 31	Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor	ORPHA:217012
Spinocerebellar Ataxia 40	Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ...	OMIM:616053
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor	ORPHA:423296
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Myoclonus, Gait ataxia, Tremor, Abnormali...	OMIM:615362
Camos Syndrome	Optic atrophy, Spasticity, Seizure, Aplasia/Hypoplasia of the cerebellum, Ataxia, Progressive ext...	ORPHA:83472
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Retinal pigment epithelial mottling, Seizure, Generalized dystonia, Inability...	OMIM:619389
Spinocerebellar Ataxia 38	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Atrophy/Degeneration affe...	OMIM:615957
Cornea Plana 1, Autosomal Dominant	Flat cornea	OMIM:121400
Neuroectodermal Melanolysosomal Disease	Optic atrophy, Spasticity, Cerebral cortical atrophy, Abnormal optic nerve morphology, Seizure, T...	ORPHA:33445
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Spasticity, Cerebellar atrophy, Seizure, Impaired distal proprioception, Babinski sign, Chiari ty...	OMIM:619742
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Spastic paraplegia, Optic atrophy, Cerebellar atrophy, Seizure, Difficulty walking, Neurodegenera...	OMIM:612319
Spinocerebellar Ataxia Type 37	Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Myoclo...	ORPHA:363710
Ceroid Lipofuscinosis, Neuronal, 8	Cerebellar atrophy, Seizure, Cerebral atrophy, Increased neuronal autofluorescent lipopigment, My...	OMIM:600143
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Cerebe...	OMIM:615268
Epilepsy, Progressive Myoclonic, 11	Cerebellar vermis hypoplasia, Cerebellar atrophy, Seizure, Giant somatosensory evoked potentials,...	OMIM:618876
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy, Oculogyric crisis, Focal impaired awareness seizure, Cerebellar atrophy, Seizure, ...	ORPHA:330050
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Seizure, Hemiplegia, Tremor, Hemiparesis, Ataxia	OMIM:141500
Corneal Dystrophy, Epithelial Basement Membrane	Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy	OMIM:121820
Ceroid Lipofuscinosis, Neuronal, 2	Cerebral atrophy, Seizure, Increased neuronal autofluorescent lipopigment, Myoclonus, Retinal deg...	OMIM:204500
Spinocerebellar Ataxia 41	Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait	OMIM:616410
Glycosylphosphatidylinositol Biosynthesis Defect 15	Optic atrophy, Spasticity, Myoclonic seizure, Cerebellar atrophy, Generalized non-motor (absence)...	OMIM:617810
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Myoclonic seizure, Seizure, Increased neuronal autofluorescent lipopigment, Abnormal cerebellum m...	OMIM:162350
Diaminopentanuria	Neurodegeneration, Spasticity, Seizure, Ataxia	OMIM:222350
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal guttata, Corneal stromal edema, Corneal opacity	OMIM:613267
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Seizure, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal p...	OMIM:614561
Nescav Syndrome	Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Inability to walk, Cere...	OMIM:614255
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech	OMIM:160120
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Rod-cone dystroph...	ORPHA:1178
Dystonia 23	Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Myoclonus, Limb dystonia, Axial dysto...	OMIM:614860
Morquio Syndrome C	Corneal opacity	OMIM:252300
Thiel-Behnke Corneal Dystrophy	Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn...	ORPHA:98960
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	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	Spasticity, Cerebellar atrophy, Seizure, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski...	OMIM:607317
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy...	OMIM:610245
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Spinocerebellar Ataxia 7	Optic atrophy, Spasticity, Macular degeneration, Pigmentary retinopathy, Chorea, Dysmetria, Tremo...	OMIM:164500
Macular Dystrophy, Corneal	Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy	OMIM:217800
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morpholo...	ORPHA:98762
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration, Seizure	OMIM:613068
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk...	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	Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Dysmetria, Rigi...	OMIM:618090
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Inability t...	OMIM:617672
Lattice Corneal Dystrophy Type I	Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur...	ORPHA:98964
Corneal Endothelial Dystrophy	Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In...	OMIM:217700
Tremor, Hereditary Essential, 6	Cerebellar atrophy, Postural tremor, Head 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	Spasticity, Falls, Cerebellar atrophy, Seizure, Cerebral atrophy, Action tremor, Rigidity, Babins...	OMIM:300423
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Laryngeal dystonia, Gait ataxia, Ab...	ORPHA:101110
Spinocerebellar Ataxia 12	Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dysto...	OMIM:604326
Cerebellar Ataxia, Cayman Type	Broad-based gait, Cerebellar atrophy, Gait ataxia, Cerebellar hypoplasia, Dystonia, Abnormal reti...	OMIM:601238
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait	OMIM:617917
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Spasticity, Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, ...	ORPHA:284332
Ring Dermoid Of Cornea	Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival...	OMIM:180550
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr...	ORPHA:276193
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul...	OMIM:610202
Spastic Paraplegia 79B, Autosomal Recessive	Tetraparesis, Neurodegeneration, Loss of ambulation, Ataxia, Spastic paraplegia, Impaired vibrato...	OMIM:615491
Spinocerebellar Ataxia 35	Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o...	OMIM:613908
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Seizure, Cerebral atrophy, Tremor, Rigidi...	ORPHA:329284
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy	OMIM:217400
Spastic Ataxia 2, Autosomal Recessive	Spasticity, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor,...	OMIM:611302
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis	OMIM:607458
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria...	OMIM:616291
Stxbp1-Related Encephalopathy	Ataxia, Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Spastic tetr...	ORPHA:599373
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Trem...	ORPHA:98763
Optic Atrophy 3, Autosomal Dominant	Optic atrophy, Optic disc pallor, Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness,...	ORPHA:79262
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy	OMIM:271310
Leukoencephalopathy, Progressive, With Ovarian Failure	Spasticity, Cerebellar atrophy, Hand tremor, Neurodegeneration, Babinski sign, Apraxia, Ataxia, D...	OMIM:615889
Cornea Plana 2, Autosomal Recessive	Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Mitochondrial Complex I Deficiency, Nuclear Type 12	Cerebellar atrophy, Seizure, Gait imbalance, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, R...	OMIM:301020
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Seizure, Retinopathy, Rod-cone dystrophy, Ataxia, Corticospi...	OMIM:551500
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at...	OMIM:616948
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Seizure, Tetraparesis, Cerebral atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, ...	OMIM:615924
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy...	OMIM:136800
Spinocerebellar Ataxia, Autosomal Recessive 13	Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Seizure, Inability to walk, Dilated fo...	OMIM:614831
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Cerebellar hypoplasia, Optic atrophy, Abnormality of retinal pigmentation, Ataxia	ORPHA:2246
Autosomal Recessive Spastic Paraplegia Type 67	Cerebral cortical atrophy, Progressive spastic paraplegia, Difficulty walking, Babinski sign, Low...	ORPHA:401820
Spinocerebellar Ataxia, Autosomal Recessive 15	Cerebellar atrophy, Seizure, Gait ataxia, Ataxia, Unsteady gait	OMIM:615705
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Global brain atrophy, Cerebellar atrophy, Aplasia of the inferior half of the c...	OMIM:610185
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Cerebellar atrophy, Seizure, Cerebral atrophy, Neurodegeneration, Akinesia, ...	OMIM:300894
Episodic Ataxia With Slurred Speech	Gait ataxia, Tremor, Slurred speech	ORPHA:401953
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Difficulty walking, Inability t...	ORPHA:2590
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Infantile Neuronal Ceroid Lipofuscinosis	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Generalized...	ORPHA:79263
Epilepsy, Progressive Myoclonic, 8	Falls, Cerebellar atrophy, Limb ataxia, Myoclonus, Truncal ataxia, Gait disturbance, Bilateral to...	OMIM:616230
Dentatorubral-Pallidoluysian Atrophy	Seizure, Chorea, Myoclonus, Parkinsonism, Atrophy of the dentate nucleus, Ataxia, Dystonia, Chore...	OMIM:125370
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Myoclonus, Tremor, Dysmetria, Babinski sign, Atonic seizure, Generalized myoclonic seizure	OMIM:612437
Anterior Segment Dysgenesis 6	Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova...	OMIM:617315
Galactosialidosis	Corneal opacity	ORPHA:351
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar vermis hypoplasia, Action tremor, Cerebellar hypoplasia, Clumsiness, Truncal ataxia, U...	ORPHA:314978
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady...	OMIM:302500
Spinocerebellar Ataxia Type 40	Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Pontocerebella...	ORPHA:423275
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Dystonia 22, Juvenile-Onset	Dysdiadochokinesis, Cerebellar atrophy, Generalized dystonia, Laryngeal dystonia, Dysmetria, Lowe...	OMIM:620453
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Difficulty walking, Gait ataxia, Dysmetri...	ORPHA:529665
Corneal Dystrophy, Reis-Bucklers Type	Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity	OMIM:608470
X-Linked Endothelial Corneal Dystrophy	Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity	ORPHA:293621
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur...	OMIM:617831
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Ataxia, Spastic tetraplegia	OMIM:617207
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Gait apraxia...	OMIM:615157
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Cerebellar atrophy, Cerebral atrophy, Tremor, Ankle clonus, Loss of ambulation, Babin...	ORPHA:521406
Spinocerebellar Ataxia 48	Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Bilatera...	OMIM:618093
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Positive Romberg sign, Dysmetria, Loss...	OMIM:618088
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Seizure, Gait ataxia, Limb dystonia, Parkinsonism, Craniofaci...	ORPHA:71517
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity	ORPHA:2432
Spinocerebellar Ataxia 20	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor	OMIM:608687
Generalized Epilepsy With Febrile Seizures-Plus	Ataxia, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizur...	ORPHA:36387
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Incoordination, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Babinski s...	OMIM:616204
Behr Syndrome	Optic atrophy, Cerebellar atrophy, Hypoplastic optic chiasm, Cerebellar vermis atrophy, Dysmetria...	OMIM:210000
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Dyskinesia, Limb And Orofacial, Infantile-Onset	Seizure, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus	OMIM:616921
Spinocerebellar Ataxia, Autosomal Recessive 2	Spasticity, Incoordination, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gai...	OMIM:213200
Epilepsy, Familial Adult Myoclonic, 4	Seizure, Myoclonus, Tremor, Enhancement of the C-reflex, Bilateral tonic-clonic seizure	OMIM:615127
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Broad-based gait, Cerebellar atrophy, Febrile seizure (within the age range of 3 months to 6 year...	ORPHA:512260
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Pigmentary retinopathy, Seizure, Focal-onset seizure, Intention tremor, Hemiparesis, ...	OMIM:614307
Atypical Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Spasticity, Focal dystonia, Chorea, Limb dystonia, Retinopathy, Tremor, Rigidity, ...	ORPHA:216873
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Bilateral tonic-clonic se...	OMIM:619028
Leukodystrophy, Hypomyelinating, 6	Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Tremor, Rigidity, Oculomotor apraxia, Ata...	OMIM:612438
Granular Corneal Dystrophy Type Ii	Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t...	ORPHA:98963
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Ataxia, Chorea, Tremor, Hyperkinetic movements, Torticollis, Bilateral tonic-clonic seizure, Dyst...	OMIM:618425
Epilepsy, Familial Adult Myoclonic, 3	Giant somatosensory evoked potentials, Difficulty walking, Myoclonus, Tremor, Enhancement of the ...	OMIM:613608
Spinocerebellar Ataxia 29	Truncal titubation, Diffuse cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, D...	OMIM:117360
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Neurodegeneration, Gait ataxia, Retinal telangiectasia, Cerebellar atrophy	ORPHA:438134
Striatal Degeneration, Autosomal Dominant 1	Degeneration of the striatum, Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesi...	OMIM:609161
Spinocerebellar Ataxia, Autosomal Recessive 6	Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor	OMIM:608029
Spinocerebellar Ataxia 50	Froment sign, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Head tremor, Myoclonus, Acti...	OMIM:620158
Epilepsy, Familial Adult Myoclonic, 1	Giant somatosensory evoked potentials, Tremor, Enhancement of the C-reflex, Bilateral tonic-cloni...	OMIM:601068
Intellectual Developmental Disorder, X-Linked 104	Optic atrophy, Spasticity, Cerebral cortical atrophy, Seizure, Tremor, Ataxia	OMIM:300983
Dravet Syndrome	Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seiz...	OMIM:607208
Multiple Mitochondrial Dysfunctions Syndrome 6	Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Inability to walk, Dysmetria, Atrophy/Deg...	OMIM:617954
Boucher-Neuhauser Syndrome	Spasticity, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait ataxia, Chorioretina...	OMIM:215470
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Difficulty walking, Impaired vibration sensation in the lower limbs, Loss of ambulation, Spastic ...	ORPHA:137898
Developmental Delay And Seizures With Or Without Movement Abnormalities	Myoclonic absence seizure, Tremor, Rigidity, Chiari type I malformation, Dystonia, Bilateral toni...	OMIM:617836
Progressive Myoclonic Epilepsy Type 3	Optic atrophy, Cerebellar atrophy, Focal myoclonic seizure, Limb myoclonus, Febrile seizure (with...	ORPHA:263516
Basal Ganglia Calcification, Idiopathic, 1	Cerebellar dentate nucleus calcification, Seizure, Chorea, Limb dysmetria, Tremor, Rigidity, Dyst...	OMIM:213600
Peroxisome Biogenesis Disorder 8B	Spasticity, Spastic paraparesis, Loss of ambulation, Clonus, Ataxia, Unsteady gait, Retinal dystr...	OMIM:614877
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Broad-based gait, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Seizure, Gait ataxia...	OMIM:224050
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Myoclonus, Gait ataxia, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-cl...	OMIM:618587
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys...	OMIM:616127
Monomelic Amyotrophy	Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction, Tremor, Fascicul...	ORPHA:65684
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Seizure, Impaired vibration sensation in the lower limbs, Tremor, Degeneratio...	OMIM:600363
Spastic Paraplegia 78, Autosomal Recessive	Spastic paraplegia, Impaired vibratory sensation, Cerebral cortical atrophy, Falls, Resting tremo...	OMIM:617225
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyr...	OMIM:617145
Spinocerebellar Ataxia Type 17	Blepharospasm, Spasticity, Involuntary movements, Cerebellar atrophy, Chorea, Rigidity, Dystonia,...	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	Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Steppage gait, Ataxia	OMIM:618387
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst...	OMIM:605407
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Loss of ambulation, Lower limb spasticit...	OMIM:617916
Coenzyme Q10 Deficiency, Primary, 4	Epilepsia partialis continua, Cerebellar atrophy, Seizure, Myoclonus, Tremor, Generalized tonic s...	OMIM:612016
Lopes-Maciel-Rodan Syndrome	Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Cerebellar vermis atrophy, Tremor, Ank...	OMIM:617435
Epilepsy, Progressive Myoclonic, 6	Ataxia, Atonic seizure, Generalized non-motor (absence) seizure, Difficulty walking, Myoclonus, T...	OMIM:614018
Spinocerebellar Ataxia 17	Broad-based gait, Cerebellar atrophy, Seizure, Chorea, Limb ataxia, Myoclonus, Positive Romberg s...	OMIM:607136
Myoclonus, Familial, 1	Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls	OMIM:614937
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Seizure, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive ce...	ORPHA:139485
Corneal Dystrophy, Posterior Polymorphous, 1	Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet...	OMIM:122000
Spinocerebellar Ataxia, Autosomal Recessive 32	Abnormal nerve conduction velocity, Cerebellar atrophy, Limb myoclonus, Somatic sensory dysfuncti...	OMIM:619862
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Progressive cerebellar ataxia, Macular degeneration, Cerebellar atrophy, Fasciculations, Generali...	ORPHA:284289
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ...	ORPHA:284324
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Optic atrophy, Spasticity, Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Postural tremo...	OMIM:607694
Autosomal Spastic Paraplegia Type 58	Spasticity, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Frequent falls, Fasciculations, C...	ORPHA:397946
Congenital Hereditary Endothelial Dystrophy Type Ii	Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co...	ORPHA:293603
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Impaired vibratory sensation, Spasticity, Cerebellar vermis hypoplasia, Cerebellar atrophy, Parie...	ORPHA:98
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Hand tremor, Myoclonus, Paroxysmal dystonia, Prolonged somatosensory evoked potentials, Focal hem...	OMIM:608105
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia	ORPHA:401901
Intellectual Developmental Disorder, Autosomal Recessive 6	Involuntary movements, Postural tremor, Myoclonus, Torticollis, Atonic seizure, Kinetic tremor	OMIM:611092
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Trun...	OMIM:607346
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Tremor, Dysmetria, Oculomotor apraxia, Rod-cone dystrophy, Ataxia, Unsteady g...	OMIM:614867
Neurodegeneration With Brain Iron Accumulation 2A	Optic atrophy, Cerebellar atrophy, Seizure, Cerebral atrophy, Neurodegeneration, Decreased nerve ...	OMIM:256600
Ceroid Lipofuscinosis, Neuronal, 10	Spasticity, Myoclonic seizure, Cerebellar atrophy, Seizure, Cerebral atrophy, Increased neuronal ...	OMIM:610127
Spinocerebellar Ataxia, Autosomal Recessive 14	Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Dysmetria, Unsteady gait, Intent...	OMIM:615386
Primary Dystonia, Dyt27 Type	Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Axial dystonia, Action tremor, Oro...	ORPHA:464440
Paroxysmal Exertion-Induced Dyskinesia	Involuntary movements, Generalized non-motor (absence) seizure, Seizure, Chorea, Paresthesia, Low...	ORPHA:98811
Neurodegeneration With Brain Iron Accumulation 4	Optic atrophy, Spasticity, Cerebellar atrophy, Generalized dystonia, Neurodegeneration, Tremor, A...	OMIM:614298
Spinocerebellar Ataxia 2	Spasticity, Action tremor, Parkinsonism, Rod-cone dystrophy, Ataxia, Unsteady gait, Bradykinesia,...	OMIM:183090
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata...	ORPHA:251282
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Generalized-onset seizure, Difficulty walking, Myoclonus, Tremor, Facial p...	OMIM:159950
Neurodegeneration With Brain Iron Accumulation 2B	Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Neurodegeneration, Chor...	OMIM:610217
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Focal sensory seizure with visual features, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Fo...	OMIM:615400
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus	OMIM:618463
Combined Oxidative Phosphorylation Defect Type 29	Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Retinopathy, Axonal degenera...	ORPHA:478029
Neurodegeneration With Brain Iron Accumulation 6	Spastic paraparesis, Tip-toe gait, Neurodegeneration, Rigidity, Dystonia, Gait disturbance, Oroma...	OMIM:615643
Dystonia 27	Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O...	OMIM:616411
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Seizure, Ina...	ORPHA:391411
Sandhoff Disease, Adult Form	Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia	ORPHA:309169
Myoclonic-Atonic Epilepsy	Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Tremor, Atonic seizure, Eyeli...	OMIM:616421
Developmental And Epileptic Encephalopathy 47	Cerebellar atrophy, Inability to walk, Limb ataxia, Attenuation of retinal blood vessels, Focal-o...	OMIM:617166
Macular Corneal Dystrophy	Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification...	ORPHA:98969
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Diffuse cerebral atrophy, Babinski sign, Dystonia, ...	ORPHA:314632
Granular Corneal Dystrophy Type I	Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr...	ORPHA:98962
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal guttata, Corneal dystrophy	OMIM:615523
Glutathione Synthetase Deficiency	Pigmentary retinopathy, Seizure, Ataxia, Spastic tetraparesis, Intention tremor	OMIM:266130
Developmental And Epileptic Encephalopathy 97	Inability to walk, Epileptic spasm, Tremor, Seizure	OMIM:619561
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Typical absence seizure, Hypoplasia of the pons, Seizure, Cerebella...	ORPHA:101070
Spinocerebellar Ataxia 42	Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast...	OMIM:616795
4H Leukodystrophy	Optic atrophy, Cerebellar atrophy, Seizure, Dysmetria, Tremor, Abnormality of extrapyramidal moto...	ORPHA:289494
Cyanide-Induced Parkinsonism-Dystonia	Short stepped shuffling gait, Shuffling gait, Cerebral cortical atrophy, Falls, Resting tremor, R...	ORPHA:306692
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Impaired vibratory sensation, Cerebellar atrophy, Decreased motor nerve conduction velocity, Seiz...	OMIM:607250
Anterior Segment Dysgenesis 1	Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif...	OMIM:107250
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Inability to walk, Extrapyramidal muscular rigidity, Action tremor, Dysmetria...	ORPHA:93952
Hsd10 Disease	Optic atrophy, Spastic paraparesis, Frontotemporal cerebral atrophy, Seizure, Myoclonus, Tremor, ...	ORPHA:391417
Myoclonic Epilepsy, Familial Infantile	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, Gait ataxia,...	OMIM:605021
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Elongated ...	ORPHA:370022
Gm2 Gangliosidosis, Ab Variant	Seizure, Cherry red spot of the macula, Neurodegeneration, Cerebral atrophy, Chorea, Progressive ...	ORPHA:309246
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, ...	ORPHA:98764
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt...	ORPHA:1170
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst...	OMIM:128230
Leukodystrophy, Hypomyelinating, 11	Spasticity, Cerebellar atrophy, Myoclonus, Tremor, Ataxia	OMIM:616494
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Tip-toe gait, Hand tremor, Decreased motor nerve conduction velocity, Incoord...	OMIM:302800
Corneal Dystrophy, Thiel-Behnke Type	Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy	OMIM:602082
Spinocerebellar Ataxia Type 2	Cerebral cortical atrophy, Fasciculations, Chorea, Postural tremor, Gait ataxia, Dystonia, Parkin...	ORPHA:98756
Spinocerebellar Ataxia 13	Optic atrophy, Spasticity, Cerebellar atrophy, Limb ataxia, Myoclonus, Limb dysmetria, Gait ataxi...	OMIM:605259
Primary Dystonia, Dyt13 Type	Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac...	ORPHA:98807
Spinocerebellar Ataxia, Autosomal Recessive 21	Spasticity, Impaired pain sensation, Cerebellar vermis atrophy, Paresthesia, Limb ataxia, Gait at...	OMIM:616719
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Developmental And Epileptic Encephalopathy 56	Broad-based gait, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Action tre...	OMIM:617665
Spinocerebellar Ataxia, Autosomal Recessive 31	Optic atrophy, Seizure, Cerebral atrophy, Retinopathy, Tremor, Cerebellar hypoplasia, Ataxia, Dys...	OMIM:619422
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal guttata, Corneal degeneration, Corneal dystrophy	OMIM:610158
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal...	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, Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, ...	OMIM:619738
Spinocerebellar Ataxia Type 10	Focal impaired awareness seizure, Dysdiadochokinesis, Cerebellar atrophy, Generalized-onset seizu...	ORPHA:98761
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia	OMIM:606658
Developmental And Epileptic Encephalopathy 32	Myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclo...	OMIM:616366
Developmental And Epileptic Encephalopathy 42	Ataxia, Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, Focal tonic seiz...	OMIM:617106
Limbal Stem Cell Deficiency	Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea...	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	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Involuntary movements, Dysdiadochokinesis, Seizure, Limb ataxia, Myoclonus, Action...	ORPHA:101
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus	ORPHA:494526
Poretti-Boltshauser Syndrome	Cerebellar vermis hypoplasia, Retinal thinning, Cerebellar dysplasia, Dilated fourth ventricle, R...	OMIM:615960
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Laryngeal dystonia, Neurodegeneration, Chorea, Tremor, Rigidity, Dysto...	OMIM:606159
Dravet Syndrome	Incoordination, Action tremor, Focal hemiclonic seizure, Parkinsonism, Photosensitive tonic-cloni...	ORPHA:33069
Bilateral Striopallidodentate Calcinosis	Corneal opacity	ORPHA:1980
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of...	ORPHA:98974
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Spasticity, Involuntary movements, Seizure, Cerebral atrophy, Difficulty walking, ...	ORPHA:442835
Congenital Disorder Of Glycosylation, Type Iibb	Cerebellar vermis hypoplasia, Spasticity, Myoclonic seizure, Cerebellar atrophy, Tetraparesis, An...	OMIM:620546
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation	OMIM:619405
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Difficulty walking, Abnormal motor nerve conduction velocity, Tremor, Vocal c...	OMIM:158580
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Spasticity, Decreased motor nerve conduction velocity, Distal sensory impairment, ...	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, Cerebellar atrophy, Myoclonus, Gait ataxia, Dysmetria, Distal sensory impairment, ...	OMIM:616505
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Optic atrophy, Cerebellar atrophy, Athetosis, Seizure, Cerebral atrophy, Dysmetria, Tremor, Diffu...	OMIM:617710
Dystonia 11, Myoclonic	Myoclonus, Writer's cramp, Tremor, Torticollis	OMIM:159900
Cerebral Creatine Deficiency Syndrome 2	Ataxia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Tremor...	OMIM:612736
Spinocerebellar Ataxia 27B, Late-Onset	Postural tremor, Limb ataxia, Gait ataxia, Cerebellar atrophy	OMIM:620174
Tremor-Ataxia-Central Hypomyelination Syndrome	Optic atrophy, Spasticity, Cerebral cortical atrophy, Autonomic bladder dysfunction, Impaired vib...	ORPHA:447896
Null Syndrome	Optic atrophy, Progressive spastic paraplegia, Difficulty walking, Inability to walk, Decreased n...	ORPHA:280234
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ...	OMIM:208920
Spinal Muscular Atrophy, Jokela Type	Difficulty walking, Distal sensory impairment, Tremor, Fasciculations	OMIM:615048
Autosomal Recessive Progressive External Ophthalmoplegia	Optic atrophy, Shuffling gait, Cerebellar atrophy, Cerebral atrophy, Paresthesia, Cogwheel rigidi...	ORPHA:254886
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Cerebellar hypoplasia, Limb dystonia, Tremor, Ataxia	OMIM:620270
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Optic atrophy, Spasticity, Cerebellar atrophy, Decreased nerve conduction velocity, Dysmetria, Di...	OMIM:612674
Spastic Ataxia 5, Autosomal Recessive	Spasticity, Spastic paraparesis, Dysdiadochokinesis, Cerebellar atrophy, Myoclonus, Dysmetria, Sp...	OMIM:614487
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel...	OMIM:604229
Spinocerebellar Ataxia 5	Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Incoordination, Limb ataxia, ...	OMIM:600224
Spinocerebellar Ataxia Type 1	Progressive cerebellar ataxia, Loss of Purkinje cells in the cerebellar vermis, Optic atrophy, Ab...	ORPHA:98755
Spinocerebellar Ataxia Type 29	Dysdiadochokinesis, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Oculom...	ORPHA:208513
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Loss of ambulation, Tremor, Fasciculations	OMIM:182980
Spinocerebellar Ataxia With Epilepsy	Optic atrophy, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Gait ataxia, Dysmetria...	ORPHA:254881
Neurotrophic Keratopathy	Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Corneal stromal e...	ORPHA:137596
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Truncal a...	ORPHA:352403
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Gait disturbance, Tremor	OMIM:611808
Hsd10 Disease, Infantile Type	Optic atrophy, Frontotemporal cerebral atrophy, Poor coordination, Seizure, Cerebral atrophy, Neu...	ORPHA:391428
Leukoencephalopathy With Ataxia	Choroidal neovascularization, Limb ataxia, Gait ataxia, Chorioretinal atrophy, Action tremor, Ret...	OMIM:615651
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Spasticity, Shuffling gait, Macular degeneration, Resting tremor, Akinesia, Gait ataxia, Intentio...	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	Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston...	OMIM:617284
Epithelial Recurrent Erosion Dystrophy	Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi...	ORPHA:293381
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe...	OMIM:260300
L-2-Hydroxyglutaric Aciduria	Optic atrophy, Global brain atrophy, Cerebellar atrophy, Seizure, Abnormality of extrapyramidal m...	OMIM:236792
Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Somatic sensory dysfunction, Progressive extrapyramidal mu...	ORPHA:454887
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sensory action ...	OMIM:619279
Urocanase Deficiency	Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia	OMIM:276880
Caribbean Parkinsonism	Cerebral cortical atrophy, Autonomic bladder dysfunction, Myoclonus, Action tremor, Rigidity, Dys...	ORPHA:97355
Tremor, Hereditary Essential, 1	Postural tremor, Action tremor, Hand tremor	OMIM:190300
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebral cortical atrophy, Cerebellar atrophy, Difficulty walking, Head tremor, Myoclonus, Axial ...	ORPHA:420492
Spinocerebellar Ataxia Type 21	Cerebellar vermis atrophy, Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor fun...	ORPHA:98773
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Dystonia, Myoclonus, Tremor, Frequent falls	OMIM:619647
Leukoencephalopathy With Calcifications And Cysts	Spasticity, Cerebellar dentate nucleus calcification, Seizure, Tremor, Abnormal pyramidal sign, G...	ORPHA:542310
Pelizaeus-Merzbacher Disease	Spastic paraplegia, Broad-based gait, Optic atrophy, Global brain atrophy, Seizure, Generalized d...	OMIM:312080
Parkinson Disease 2, Autosomal Recessive Juvenile	Shuffling gait, Pill-rolling tremor, Resting tremor, Cerebral atrophy, Postural tremor, Cogwheel ...	OMIM:600116
Spinocerebellar Ataxia, Autosomal Recessive 7	Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi...	OMIM:609270
Glut1 Deficiency Syndrome 2	Cerebral atrophy, Seizure, Tremor, Ataxia, Dystonia, Choreoathetosis	OMIM:612126
Spinocerebellar Ataxia 44	Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis	OMIM:617691
Pyruvate Dehydrogenase E2 Deficiency	Broad-based gait, Arm dystonia, Difficulty walking, Speech apraxia, Neurodegeneration, Paroxysmal...	ORPHA:79244
Spinocerebellar Ataxia Type 13	Optic atrophy, Cerebellar atrophy, Seizure, Difficulty walking, Limb ataxia, Myoclonus, Gait atax...	ORPHA:98768
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity	ORPHA:1473
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Hemiplegia/hemiparesis, Dysmetria, Tremor, Abnormal pyramida...	ORPHA:96
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia	Spastic paraplegia, Impaired vibratory sensation, Cerebellar atrophy, Seizure, Myoclonus, Babinsk...	OMIM:620538
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal guttata, Corneal dystrophy	OMIM:613268
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Seizure, Incoordination, Tremor, Pontocerebellar atrophy, Cerebellar hypoplasia, Abnormal pyramid...	OMIM:618060
Lower Motor Neuron Syndrome With Late-Adult Onset	Tongue fasciculations, Fasciculations, Inability to walk, Abnormal sensory nerve conduction veloc...	ORPHA:276435
Hemiparkinsonism-Hemiatrophy Syndrome	Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Cerebral cortical hemiatrophy, B...	ORPHA:306669
Hyperphenylalaninemia, Bh4-Deficient, C	Seizure, Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis	OMIM:261630
X-Linked Parkinsonism-Spasticity Syndrome	Spasticity, Spastic paraparesis, Resting tremor, Seizure, Cogwheel rigidity, Ankle clonus, Diffus...	ORPHA:363654
Krabbe Disease	Optic atrophy, Seizure, Neurodegeneration, Decreased nerve conduction velocity, Diffuse cerebral ...	OMIM:245200
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	Resting tremor, Seizure, Postural tremor, Akinesia, Freezing of gait, Rigidity, Dystonia, Clumsin...	OMIM:619911
Atypical Rett Syndrome	Spasticity, Involuntary movements, Neonatal seizure, Limb myoclonus, Seizure, Pill-rolling tremor...	ORPHA:3095
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Optic atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Intention ...	OMIM:614381
Inherited Creutzfeldt-Jakob Disease	Progressive cerebellar ataxia, Global brain atrophy, Central nervous system degeneration, Vestibu...	ORPHA:282166
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Seizure, Ataxia	OMIM:618951
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Myoclonic seizure, Brain atrophy, Myoclonus, Gait ataxia, Tremor, Impaired tactile sensation, Bil...	OMIM:619092
Spinocerebellar Ataxia 34	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Fasciculations, Limb ataxia, Gait atax...	OMIM:133190
Proximal Myopathy With Extrapyramidal Signs	Optic atrophy, Involuntary movements, Resting tremor, Progressive extrapyramidal muscular rigidit...	ORPHA:401768
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
Cataract 1, Multiple Types	Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract	OMIM:116200
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Seizure, Cerebral atrophy, Inability to walk, Myoclonus, Gait ataxia, ...	OMIM:618877
Riboflavin Transporter Deficiency	Cerebral cortical atrophy, Abnormality of macular pigmentation, Seizure, Myoclonus, Abnormal cran...	ORPHA:97229
Combined Oxidative Phosphorylation Deficiency 29	Optic atrophy, Spasticity, Global brain atrophy, Cerebellar atrophy, Seizure, Retinopathy, Axonal...	OMIM:616811
Combined Oxidative Phosphorylation Deficiency 32	Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Inability to walk, Tremor, Dystonia, Chor...	OMIM:617664
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Hypoplasia of the pons, Difficulty walking, Speech apraxia, Head tremor, Unsteady gait, Parietal ...	ORPHA:412057
Gm2-Gangliosidosis, Ab Variant	Myoclonic seizure, Seizure, Cerebral atrophy, Neurodegeneration, Chorea, Dystonia, Paralysis, Abn...	OMIM:272750
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Blepharospasm, Optic atrophy, Spasticity, Involuntary movements, Pigmentary retinopathy, Chorea, ...	OMIM:617282
Hypermanganesemia With Dystonia 2	Spasticity, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Generalized dystonia, Inability t...	OMIM:617013
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apr...	OMIM:602481
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Somatic sensory dysfunction, Progressive extrapyramidal mu...	ORPHA:240103
Parkinsonism-Dystonia 2, Infantile-Onset	Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Abnormal autonomic nervo...	OMIM:618049
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia	OMIM:614229
Spinocerebellar Ataxia 8	Spasticity, Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cere...	OMIM:608768
Spinocerebellar Ataxia 6	Cerebral cortical atrophy, Cerebellar atrophy, Frequent falls, Incoordination, Dysmetria, Loss of...	OMIM:183086
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me...	ORPHA:98973
Severe Neurodegenerative Syndrome With Lipodystrophy	Poor motor coordination, Spasticity, Seizure, Tetraparesis, Cerebral atrophy, Myoclonus, Gait ata...	ORPHA:363400
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Seizure, Tremor, Rigidity...	OMIM:603472
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Infantile spasms, Tremor, Ataxia	OMIM:278780
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Familial Infantile Myoclonic Epilepsy	Ataxia, Blepharospasm, Cerebellar atrophy, Limb myoclonus, Seizure, Focal-onset seizure, Clumsine...	ORPHA:352582
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hand tremor, Fasciculations, Distal sensory impairment, Axonal degeneration, Gait disturbance, Te...	OMIM:604484
X-Linked Charcot-Marie-Tooth Disease Type 4	Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Gait disturbance, Ataxia	ORPHA:101078
Brittle Cornea Syndrome 2	Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease...	OMIM:614170
Fragile X Tremor/Ataxia Syndrome	Poor fine motor coordination, Cerebellar atrophy, Resting tremor, Postural tremor, Gait ataxia, A...	OMIM:300623
Spinocerebellar Ataxia Type 36	Loss of Purkinje cells in the cerebellar vermis, Tongue fasciculations, Limb myoclonus, Hand trem...	ORPHA:276198
Developmental And Epileptic Encephalopathy 4	Spastic paraplegia, Spastic tetraplegia, Generalized myoclonic seizure, Cerebral atrophy, Epilept...	OMIM:612164
Combined Oxidative Phosphorylation Deficiency 24	Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Neurodegeneration, Neuronal loss in centr...	OMIM:616239
Myopathy With Extrapyramidal Signs	Optic atrophy, Seizure, Difficulty walking, Cerebellar dysplasia, Chorea, Tremor, Abnormality of ...	OMIM:615673
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Progressive spastic paraplegia, Babinski sign, Gait disturbance, Atrophy of t...	OMIM:612020
X-Linked Charcot-Marie-Tooth Disease Type 3	Spastic paraparesis, Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Diff...	ORPHA:101077
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Optic atrophy, Dysdiadochokinesis, Gait ataxia, Dysmetria, Babinski sign, Vestibular areflexia, I...	ORPHA:504476
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Truncal titubation, Pigmentary retinopathy, Seizure, Impaired vibration sensation in the lower li...	ORPHA:88628
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Cerebral atrophy, Tremor, Ataxia	OMIM:618637
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Cerebellar atrophy, Generalized dystonia, Inability to walk, Tremor, Babinski sign...	OMIM:128100
Gómez-López-Hernández Syndrome	Corneal opacity	ORPHA:1532
Aceruloplasminemia	Blepharospasm, Involuntary movements, Macular degeneration, Chorea, Akinesia, Limb ataxia, Gait a...	ORPHA:48818
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Spastic paraparesis, Acroparesthesia,...	ORPHA:206443
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Dystonia, Myoclonus, Tremor	OMIM:619651
Gerstmann-Straussler Disease	Spasticity, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsoni...	OMIM:137440
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Somatic sensory dysfunction, Head tremor, Gait ataxia, Dysmetria, Titubation	ORPHA:98771
Neurodegeneration With Brain Iron Accumulation 1	Spasticity, Neurodegeneration, Parkinsonism, Abnormal pyramidal sign, Ataxia, Bradykinesia, Chore...	OMIM:234200
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Spastic paraplegia, Broad-based gait, Seizure, Febrile seizure (within the age range of 3 months ...	ORPHA:477673
Mohr-Tranebjaerg Syndrome	Optic atrophy, Shuffling gait, Global brain atrophy, Generalized dystonia, Abnormality of somatos...	ORPHA:52368
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Spasticity, Spastic tetraplegia, Seizure, Difficulty walking, Neurodegeneration, R...	OMIM:618476
Cataract-Ataxia-Deafness Syndrome	Decreased nerve conduction velocity, Hypertonia, Tremor, Ataxia	ORPHA:1368
Spinocerebellar Ataxia 21	Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Akinesia, Abnor...	OMIM:607454
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Cerebellar atrophy, Seizure, Abnormal cerebellum morphology, Gait ataxia, Dys...	OMIM:618056
Adult-Onset Autosomal Dominant Leukodystrophy	Spasticity, Tetraparesis, Autonomic bladder dysfunction, Action tremor, Distal sensory impairment...	ORPHA:99027
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Seizure, Akinesia, Myoclonus, Distal sensory impairment, Rigidity...	OMIM:606693
Cerebral Visual Impairment	Optic atrophy, Central nervous system degeneration, Cerebral palsy, Seizure, Neurodegeneration, C...	ORPHA:447788
Developmental And Epileptic Encephalopathy 46	Seizure, Cerebral atrophy, Generalized-onset seizure, Tremor, Limb hypertonia	OMIM:617162
Phenylketonuria	Tremor, Lower limb spasticity, Seizure, Ataxia	ORPHA:716
Dystonia 12	Bradykinesia, Tremor, Dystonia, Parkinsonism, Torticollis, Unsteady gait	OMIM:128235
Amyotrophic Lateral Sclerosis 4, Juvenile	Amyotrophic lateral sclerosis, Difficulty walking, Decreased compound muscle action potential amp...	OMIM:602433
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Cerebral cortical atrophy, Tremor, Photosensitive myoclonic seizure, Gait disturbance, Aplasia/Hy...	ORPHA:1192
Multiple System Atrophy 1, Susceptibility To	Neurodegeneration, Tremor, Rigidity, Olivopontocerebellar atrophy, Babinski sign, Parkinsonism, O...	OMIM:146500
Tay-Sachs Disease	Cherry red spot of the macula, Incoordination, Poor fine motor coordination, Global brain atrophy...	ORPHA:845
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Difficulty walking, Impaired vibration sensation in the lower limbs, Head tremor, ...	ORPHA:95433
Spinocerebellar Ataxia Type 42	Upper limb postural tremor, Cerebellar atrophy, Resting tremor, Cerebellar vermis atrophy, Head t...	ORPHA:458803
Adrenoleukodystrophy	Spastic paraplegia, Seizure, Incoordination, Neurodegeneration, Limb ataxia, Paraparesis, Truncal...	OMIM:300100
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Primary Dystonia, Dyt2 Type	Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr...	ORPHA:99657
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Seizure, Inability to walk, Tremor, Cerebellar hypoplasia, Hypertonia, Ataxia	OMIM:619556
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Chorea, Myoclonus, Cogwheel rigidity, Dystonia, Parkinsonism, Nocturnal seizures,...	OMIM:619725
Hyperphenylalaninemia, Bh4-Deficient, A	Seizure, Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykine...	OMIM:261640
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Global brain atrophy, Pill-rolling tremor, Resting tremor...	OMIM:612953
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Abnormal peripheral action p...	ORPHA:90117
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebral cortical atrophy, Inferior cerebellar vermis hypoplasia, Myoclonic seizure, Cerebellar a...	OMIM:620327
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hyperkinetic movem...	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	Cerebellar atrophy, Decreased motor nerve conduction velocity, Head tremor, Chorea, Gait ataxia, ...	OMIM:606002
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Spastic paraplegia, Tip-toe gait, Abnormal optic nerve morphology, Cerebral atrophy, Tremor, Babi...	ORPHA:83629
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
X-Linked Dystonia-Parkinsonism	Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r...	ORPHA:53351
Jaberi-Elahi Syndrome	Optic atrophy, Broad-based gait, Inability to walk, Cerebellar vermis atrophy, Gait ataxia, Dysme...	OMIM:617988
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased amplitude of se...	ORPHA:206594
Congenital Disorder Of Glycosylation, Type Ie	Optic atrophy, Seizure, Abnormal macular morphology, Retinopathy, Pontocerebellar atrophy, Tremor...	OMIM:608799
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d...	OMIM:606703
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Seizure, Generalized-onset seizure, Tremor, Hemiparesis, Hypertonia...	OMIM:619737
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Seizure, Myoclonus, Tremor, Loss of ambulation, Diffuse cerebral atrophy, Rig...	OMIM:607426
Urocanic Aciduria	Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia	ORPHA:210128
Brachyolmia Type 1, Hobaek Type	Opacification of the corneal stroma, Corneal opacity	OMIM:271530
Multiple System Atrophy	Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dystonia, Rigi...	ORPHA:102
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Developmental cataract, Corneal opacity	OMIM:618815
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, Giant somatosensory evoked potentials, Myoclonus, Tremor, Enhancement of the C-ref...	OMIM:607876
Gelatinous Drop-Like Corneal Dystrophy	Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi...	ORPHA:98957
Neuroferritinopathy	Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Chorea, L...	ORPHA:157846
Familial Dyskinesia And Facial Myokymia	Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia	ORPHA:324588
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy, Tremor, Ataxia	OMIM:619473
Corneal Dystrophy, Posterior Polymorphous, 3	Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae	OMIM:609141
Basal Ganglia Disease, Biotin-Thiamine Responsive	Truncal titubation, Seizure, Tetraparesis, Inability to walk, Chorea, Cogwheel rigidity, Action t...	OMIM:607483
Atopic Keratoconjunctivitis	Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju...	ORPHA:163934
Sialidosis Type 2	Abnormal macular morphology, Tremor, Seizure, Ataxia	ORPHA:87876
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Optic atrophy, Spasticity, Cerebellar atrophy, Resting tremor, Cerebral atrophy, Head tremor, Bab...	ORPHA:314404
Corneal Dystrophy, Posterior Amorphous	Iris coloboma, Corneal dystrophy, Ectopia pupillae	OMIM:612868
Multiple System Atrophy, Cerebellar Type	Broad-based gait, Resting tremor, Autonomic bladder dysfunction, Postural tremor, Limb ataxia, Ga...	ORPHA:227510
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Optic atrophy, Seizure, Cerebral atrophy, Neurodegeneration, Gait ataxia, Dystonia, Gait disturba...	OMIM:616878
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Spasticity, Seizure, Inability to walk, Tremor, Brain atrophy	OMIM:618718
Leber Optic Atrophy	Optic atrophy, Leber optic atrophy, Central retinal vessel vascular tortuosity, Postural tremor, ...	OMIM:535000
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Positive Romberg sign, Dysmetria, Impaired proprioception, Clumsiness, Gait d...	OMIM:277460
Norrie Disease	Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit...	OMIM:310600
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Cerebellar vermis atrophy, Head tremor, Gait imbalance, Postural tre...	ORPHA:64753
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar vermis hypoplasia, Cerebellar atrophy, Athetosis, Seizure, Cerebral atrophy, Difficult...	ORPHA:572798
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Cerebral palsy, Seizure, Tremor, Rigidity, Dystonia, Limb hypertonia, Bradykin...	ORPHA:70594
Multiple System Atrophy, Parkinsonian Type	Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dystonia, Rigi...	ORPHA:98933
Brain Dopamine-Serotonin Vesicular Transport Disease	Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ...	ORPHA:352649
Congenital Primary Aphakia	Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm...	ORPHA:83461
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Freezing of gait, Rigidit...	ORPHA:99750
Autosomal Dominant Spastic Paraplegia Type 9A	Falls, Seizure, Impaired vibration sensation in the lower limbs, Abnormal cerebellum morphology, ...	ORPHA:447753
Spastic Paraplegia 9A, Autosomal Dominant	Spastic paraplegia, Impaired vibratory sensation, Resting tremor, Abnormal upper motor neuron mor...	OMIM:601162
Syngap1-Related Developmental And Epileptic Encephalopathy	Myoclonic absence seizure, Generalized-onset seizure, Eating-induced seizure, Tremor, Gait distur...	ORPHA:544254
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Seizure, Tremor, Dystoni...	OMIM:300055
Parkinson Disease 17	Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Spinocerebellar Ataxia 27A	Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Abno...	OMIM:193003
Erythrokeratodermia Variabilis	Cataract, Corneal opacity	ORPHA:317
Pyruvate Dehydrogenase E1-Alpha Deficiency	Seizure, Episodic ataxia, Cerebral atrophy, Myoclonus, Tremor, Dystonia, Choreoathetosis	OMIM:312170
Spastic Paraplegia 9B, Autosomal Recessive	Spastic paraplegia, Spasticity, Cerebral cortical atrophy, Pseudobulbar paralysis, Tremor, Babins...	OMIM:616586
Cataract 23, Multiple Types	Lamellar cataract, Microcornea, Nuclear cataract	OMIM:610425
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio...	ORPHA:240085
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Seizure, Cerebellar dysplasia, Tremor, Hyperkinetic movements, Gait disturbance, Bilateral tonic-...	ORPHA:457240
Intellectual Developmental Disorder, X-Linked 12	Cerebellar vermis hypoplasia, Spasticity, Seizure, Abnormal cerebellum morphology, Tremor, Hyperk...	OMIM:300957
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Seizure, Cerebral atrophy, Neurodegeneration, Generalized dystonia, Chorea, Infantile spasms, Myo...	OMIM:618321
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Upper limb postural tremor, Hand tremor, Myoclonus, Limb dystonia, Torticollis, Or...	ORPHA:420485
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Myoclonic seizure, Global brain atrophy, Seizure, Tetraparesis, Tremor, Rigidity, Cerebellar edem...	OMIM:617186
Saccharopinuria	Seizure, Gait ataxia, Tremor, Distal sensory impairment, Spastic diplegia	ORPHA:3124
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy, Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Distal sen...	OMIM:617675
Amyloidosis, Hereditary Systemic 1	Spasticity, Spastic paraparesis, Seizure, Paraplegia, Limb ataxia, Positive Romberg sign, Tremor,...	OMIM:105210
Glutaryl-Coa Dehydrogenase Deficiency	Poor motor coordination, Seizure, Chorea, Infantile spasms, Pallidal degeneration, Limb dystonia,...	ORPHA:25
Wolfram Syndrome 1	Optic atrophy, Pigmentary retinopathy, Seizure, Cerebral atrophy, Tremor, Ataxia	OMIM:222300
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Microcornea, Myopic astigmatism, Astigmatism, Corneal opacity	OMIM:152950
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Difficulty walking, Impaired tactile sensation, Impaired vibratory sensation, Tongue tremor, Soma...	ORPHA:466768
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Seizure, Progressive extrapyramidal muscular rigidity, Hemiplegia, Chorea, Gait a...	ORPHA:225147
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Seizure, Neurodegeneration, Cerebellar hypoplasia, Diffuse cerebral atrophy, ...	OMIM:214150
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane...	OMIM:221900
Sialidosis Type 1	Seizure, Cherry red spot of the macula, Decreased nerve conduction velocity, Myoclonus, Retinopat...	ORPHA:812
Dermochondrocorneal Dystrophy	Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities	OMIM:221800
Cystathioninuria	Tremor, Seizure	ORPHA:212
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Shuffling gait, Resting tremor, Seizure, Tremor, Parkinsonism, Lower limb spast...	ORPHA:3077
Spontaneous Periodic Hypothermia	Tremor, Gait disturbance, Seizure, Ataxia	ORPHA:29822
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Megalocornea	ORPHA:2741
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Pigmentary retinopathy, Somatic sensory dysfunction, Difficulty walking, Dysmetria, Tremor, Cereb...	ORPHA:502423
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebellar atrophy, Seizure, Cerebral atrophy, Difficulty walking, Speech apraxia, Inability to w...	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	Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Neuronal ...	OMIM:168600
Tremor, Nystagmus, And Duodenal Ulcer	Kinetic tremor, Abnormal cerebellum morphology, Tremor	OMIM:190310
Myoclonic-Astatic Epilepsy	Ataxia, Atonic seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Tremor, Bil...	ORPHA:1942
Bartsocas-Papas Syndrome 2	Axillary pterygium, Popliteal pterygium, Antecubital pterygium, Corneal opacity	OMIM:619339
Parkinson Disease 7, Autosomal Recessive Early-Onset	Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab...	OMIM:606324
Hyperphenylalaninemia, Bh4-Deficient, B	Seizure, Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Dystonia, Choreoathetosis	OMIM:233910
Amyotrophic Lateral Sclerosis	Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Neurodegeneration, Babinski sign, Para...	ORPHA:803
Joubert Syndrome With Ocular Defect	Cerebellar vermis hypoplasia, Seizure, Retinal coloboma, Tremor, Aganglionic megacolon, Oculomoto...	ORPHA:220493
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Frontotemporal cerebral atrophy, Seizur...	ORPHA:199351
Fish-Eye Disease	Corneal opacity	ORPHA:79292
Pyruvate Dehydrogenase Deficiency	Spasticity, Seizure, Cerebral palsy, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, D...	ORPHA:765
Congenital Bile Acid Synthesis Defect Type 4	Tremor, Pigmentary retinopathy, Seizure, Ataxia	ORPHA:79095
Ataxia-Telangiectasia-Like Disorder 2	Neurodegeneration, Unsteady gait, Cerebellar atrophy, Ataxia	OMIM:615919
Asparagine Synthetase Deficiency	Cerebellar vermis hypoplasia, Global brain atrophy, Hypoplasia of the pons, Seizure, Dilated four...	OMIM:615574
Congenital Rubella Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:290
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Parkinson Disease 20, Early-Onset	Short stepped shuffling gait, Involuntary movements, Shuffling gait, Cerebral cortical atrophy, T...	OMIM:615530
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity	OMIM:613153
Glutathionuria	Dysdiadochokinesis, Action tremor, Tremor	OMIM:231950
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Neurodegeneration, Seizure	OMIM:620210
Sneddon Syndrome	Seizure, Hemiplegia, Tremor, Impaired distal tactile sensation, Facial palsy	OMIM:182410
East Syndrome	Cerebellar atrophy, Seizure, Generalized-onset seizure, Difficulty walking, Inability to walk, Ac...	ORPHA:199343
Parkinson Disease 23, Autosomal Recessive Early-Onset	Cerebral cortical atrophy, Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkins...	OMIM:616840
Short Syndrome	Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ...	ORPHA:3163
Mietens Syndrome	Sclerocornea, Cataract, Microcornea, Corneal opacity	ORPHA:2557
Multicentric Carpotarsal Osteolysis Syndrome	Corneal opacity	OMIM:166300
Alpha-Mannosidosis	Cataract, Corneal opacity	ORPHA:61
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Parkinson Disease 1, Autosomal Dominant	Shuffling gait, Global brain atrophy, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Dy...	OMIM:168601
Sjogren-Larsson Syndrome	Astigmatism, Opacification of the corneal epithelium	OMIM:270200
3-Methylglutaconic Aciduria, Type Viib	Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Myoclonus, Tremor, Hyperkinetic moveme...	OMIM:616271
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Ataxia, Optic disc pallor	OMIM:618527
Hurler-Scheie Syndrome	Corneal opacity	ORPHA:93476
Chediak-Higashi Syndrome	Seizure, Ocular albinism, Neurodegeneration, Decreased nerve conduction velocity, Tremor, Macular...	OMIM:214500
Waisman Syndrome	Shuffling gait, Resting tremor, Seizure, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism ...	OMIM:311510
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Generalized-onset seizure, Postural tremor, Myoclonus, Action tremor, Gait at...	OMIM:254900
Microphthalmia/Coloboma 9	Sclerocornea, Microcornea, Iris coloboma, Ocular anterior segment dysgenesis	OMIM:615145
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity	ORPHA:1064
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Conjunctivitis, Keratitis, Corneal opacity	OMIM:602562
Early Infantile Epileptic Encephalopathy	Spasticity, Cerebellar atrophy, Seizure, Generalized non-motor (absence) seizure, Febrile seizure...	ORPHA:1934
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi...	ORPHA:240071
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity	ORPHA:281090
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Microcornea, Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy	ORPHA:1806
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Vocal cord paresis, Impaired pain sensation, Fasciculations, Impaired temperature sensation, Trem...	OMIM:619574
Persistent Hyperplastic Primary Vitreous	Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal...	ORPHA:91495
Osteoporosis-Pseudoglioma Syndrome	Corneal opacity	ORPHA:2788
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Retinal dystrophy, Tremor, Ataxia	ORPHA:713
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity	ORPHA:1867
Angelman Syndrome	Ataxia, Optic atrophy, Broad-based gait, Cerebral cortical atrophy, Seizure, Inability to walk, I...	ORPHA:72
Nipah Virus Disease	Tremor, Myoclonus, Seizure	ORPHA:99825
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait	ORPHA:209335
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Corneal opacity	ORPHA:496790
Rodrigues Blindness	Sclerocornea, Microcornea	OMIM:268320
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma	OMIM:271630
Progressive Supranuclear Palsy	Blepharospasm, Cerebral cortical atrophy, Falls, Tremor, Rigidity, Dystonia, Neuronal loss in cen...	ORPHA:683
O'Sullivan-Mcleod Syndrome	Atrophy of the spinal cord, Tremor, Fasciculations	ORPHA:99965
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Dystonia, Pa...	OMIM:613280
Parkinson-Dementia Syndrome	Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity	OMIM:260540
Olmsted Syndrome 1	Opacification of the corneal stroma, Corneal opacity	OMIM:614594
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar vermis hypoplasia, Cerebellar atrophy, Seizure, Olivopontocerebellar hypoplasia, Gener...	OMIM:212065
Combined Oxidative Phosphorylation Deficiency 15	Optic atrophy, Seizure, Incoordination, Tremor, Abnormal pyramidal sign, Ataxia, Optic disc pallo...	OMIM:614947
Supranuclear Palsy, Progressive, 1	Falls, Cerebral atrophy, Akinesia, Gait imbalance, Retrocollis, Limb dystonia, Tremor, Rigidity, ...	OMIM:601104
Dystonia 2, Torsion, Autosomal Recessive	Blepharospasm, Torsion dystonia, Tremor, Torticollis	OMIM:224500
Microphthalmia With Brain And Digit Anomalies	Sclerocornea, Cataract, Microcornea, Iris coloboma	ORPHA:139471
Niemann-Pick Disease Type C	Speech apraxia, Limb dystonia, Axial dystonia, Frontal cortical atrophy, Abnormal pyramidal sign,...	ORPHA:646
Joubert Syndrome With Renal Defect	Cerebellar vermis hypoplasia, Seizure, Tremor, Aganglionic megacolon, Oculomotor apraxia, Gait di...	ORPHA:220497
Ophthalmomandibulomelic Dysplasia	Opacification of the corneal stroma, Megalocornea	OMIM:164900
Joubert Syndrome	Cerebellar vermis hypoplasia, Seizure, Tremor, Aganglionic megacolon, Oculomotor apraxia, Gait di...	ORPHA:475
Joubert Syndrome With Hepatic Defect	Cerebellar vermis hypoplasia, Seizure, Chorioretinal coloboma, Optic disc coloboma, Tremor, Oculo...	ORPHA:1454
Cystinosis, Adult Nonnephropathic	Corneal crystals	OMIM:219750
Japanese Encephalitis	Pill-rolling tremor, Decreased motor nerve conduction velocity, Myoclonus, Cogwheel rigidity, Tre...	ORPHA:79139
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Broad-based gait, Decreased motor nerve conduction velocity, Inability to walk, Axonal degenerati...	OMIM:615490
Lcat Deficiency	Corneal opacity	ORPHA:650
Charcot-Marie-Tooth Disease Type 4B2	Optic atrophy, Tip-toe gait, Difficulty walking, Inability to walk, Paresthesia, Distal sensory i...	ORPHA:99956
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Cerebellar vermis hypoplasia, Spasticity, Myoclonic seizure, Hypoplasia of the pons, Seizure, Gen...	OMIM:620455
Dpagt1-Cdg	Optic atrophy, Cerebral cortical atrophy, Global brain atrophy, Seizure, Inability to walk, Epile...	ORPHA:86309
Mucopolysaccharidosis, Type Ii	Neurodegeneration, Papilledema, Abnormality of retinal pigmentation, Seizure	OMIM:309900
Oculomaxillofacial Dysostosis	Corneal opacity	ORPHA:1794
Aniridia 1	Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular...	OMIM:106210
Distal Deletion 6P	Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho...	ORPHA:96125
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor...	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	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Posterior embryoto...	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	Decreased nerve conduction velocity, Tremor, Seizure	ORPHA:397744
Alpha-Mannosidosis, Adult Form	Cataract, Corneal opacity	ORPHA:309288
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Zellweger Syndrome	Cataract, Posterior embryotoxon, Brushfield spots, Corneal opacity	ORPHA:912
Lowry-Maclean Syndrome	Corneal opacity, Developmental glaucoma, Megalocornea	ORPHA:2409
Autosomal Dominant Optic Atrophy And Cataract	Optic atrophy, Cerebellar atrophy, Somatic sensory dysfunction, Resting tremor, Extrapyramidal mu...	ORPHA:67036
Mucolipidosis Type Iv	Corneal opacity	ORPHA:578
Walker-Warburg Syndrome	Cataract, Microcornea, Iris coloboma, Corneal opacity	ORPHA:899
Alternating Hemiplegia Of Childhood	Seizure, Tetraparesis, Episodic hemiplegia, Chorea, Tremor, Rigidity, Abnormal pyramidal sign, Oc...	ORPHA:2131
8Q21.11 Microdeletion Syndrome	Iris hypopigmentation, Cataract, Sclerocornea, Corneal opacity	ORPHA:284160
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Optic atrophy, Spasticity, Seizure, Hemiplegia, Tremor, Abnormality of extrapyramidal motor funct...	OMIM:612199
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Astigmatism, Corneal opacity	OMIM:301056
Congenital Sialidosis Type 2	Cataract, Developmental cataract, Corneal opacity	ORPHA:93400
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma	OMIM:230650
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, Aniridia, Corneal opacity	OMIM:612469
Oculocerebrocutaneous Syndrome	Iris coloboma, Corneal opacity	ORPHA:1647
Nasopalpebral Lipoma-Coloboma Syndrome	Conjunctival hyperemia, Cataract, Corneal opacity	ORPHA:2399
Parkinson Disease 21	Parkinsonism, Bradykinesia, Tremor, Rigidity	OMIM:616361
Multiple Sulfatase Deficiency	Cataract, Corneal opacity	ORPHA:585
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculogyric crisis, Seizure, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent fa...	OMIM:612716
Cutis Laxa, Autosomal Dominant 3	Developmental cataract, Corneal opacity	OMIM:616603
Metachromatic Leukodystrophy	Tip-toe gait, Seizure, Incoordination, Decreased nerve conduction velocity, Tremor, Dystonia, Gai...	ORPHA:512
Autosomal Dominant Progressive External Ophthalmoplegia	Cerebellar atrophy, Resting tremor, Seizure, Cogwheel rigidity, Gait ataxia, Tremor, Rigidity, Ab...	ORPHA:254892
Chédiak-Higashi Syndrome	Spastic paraplegia, Cerebellar atrophy, Somatic sensory dysfunction, Seizure, Inability to walk, ...	ORPHA:167
Cystinosis	Corneal opacity	ORPHA:213
Scheie Syndrome	Corneal opacity	OMIM:607016
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
Familial Dysautonomia	Heterochromia iridis, Abnormal pupil morphology, Corneal erosion, Corneal opacity	ORPHA:1764
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Spasticity, Broad-based gait, Chorioretinal coloboma, Neurodegeneration, Progressive spastic quad...	OMIM:619475
Mucopolysaccharidosis, Type Ivb	Opacification of the corneal stroma, Corneal opacity	OMIM:253010
3Q29 Microduplication Syndrome	Sclerocornea, Cataract, 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, Bilateral tonic-clonic seizure, Ataxia, Dystonia, Optic neuropathy	OMIM:610505
Chromosome 6Pter-P24 Deletion Syndrome	Peters anomaly, Axenfeld anomaly, Posterior embryotoxon, Ocular anterior segment dysgenesis, Opac...	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	Iris hypopigmentation, Cataract, Ocular albinism, Corneal opacity	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	Spasticity, Cerebral atrophy, Tremor, Dystonia, Optic disc pallor, Unsteady gait	OMIM:615512
Farber Disease	Opacification of the corneal stroma, Abnormal conjunctiva morphology, Corneal opacity	ORPHA:333
Fucosidosis	Corneal opacity	ORPHA:349
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae	OMIM:601499
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Sclerocornea, Cataract, Microcornea, Ectopia pupillae	OMIM:615877
Schimke Immuno-Osseous Dysplasia	Corneal opacity	ORPHA:1830
Ataxia-Telangiectasia	Progressive cerebellar ataxia, Dysdiadochokinesis, Seizure, Inability to walk, Myoclonus, Intenti...	OMIM:208900
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma	OMIM:256540
Mucopolysaccharidosis Type 7	Corneal opacity	ORPHA:584
Cockayne Syndrome A	Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Cerebellar atrophy, R...	OMIM:216400
Stromme Syndrome	Cataract, Microcornea, Peters anomaly, Sclerocornea, 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
Aprosencephaly And Cerebellar Dysgenesis	Cerebellar dysplasia, Retinal dysplasia, Poorly formed metencephalon	OMIM:601374
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Astigmatism	ORPHA:2095
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Sclerocornea, Iris coloboma	ORPHA:77298
Schimmelpenning-Feuerstein-Mims Syndrome	Corneal opacity	OMIM:163200
Complex Regional Pain Syndrome	Allodynia	ORPHA:83452
Hurler Syndrome	Opacification of the corneal stroma, Corneal opacity	OMIM:607014
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Peters anomaly, Megalocornea, Corneal opacity, Buphthalmos	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	Sclerocornea, Limbal dermoid, 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, Keratitis, Corneal opacity	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
Mucopolysaccharidosis Type 1	Corneal opacity	ORPHA:579
Mosaic Trisomy 8	Corneal opacity	ORPHA:96061
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Spasticity, Hypertonia, Tremor, 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, Brushfield spots, Opacification of the corneal stroma	OMIM:214110
Spondylodysplastic Ehlers-Danlos Syndrome	Posterior subcapsular cataract, Iris coloboma, Corneal opacity, Megalocornea	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	Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovascularization, Cataract	OMIM:158310
Fabry Disease	Cataract, Conjunctival telangiectasia, Corneal opacity, Cornea verticillata, Corneal dystrophy	ORPHA:324
3Mc Syndrome 3	Corneal opacity	OMIM:248340
Hurler Syndrome	Corneal opacity	ORPHA:93473
Chromosome 8Q21.11 Deletion Syndrome	Sclerocornea, Cataract	OMIM:614230
Histiocytoid Cardiomyopathy	Congenital aphakia, Corneal opacity, Megalocornea	ORPHA:137675
Anterior Cutaneous Nerve Entrapment Syndrome	Allodynia	ORPHA:51890
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Astigmatism, Corneal opacity	ORPHA:464311
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity	ORPHA:364577
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microcornea, Hypoplasia of the iris, Ectopia pupillae, Astigmatism, Corneal neovascularization, P...	OMIM:175780
Nijmegen Breakage Syndrome	Neurodegeneration, Retinal pigment epithelial mottling	OMIM:251260
Carpenter Syndrome 1	Microcornea, Opacification of the corneal stroma	OMIM:201000
Dyrk1A-Related Intellectual Disability Syndrome	Astigmatism, Corneal opacity	ORPHA:464306
Moebius Syndrome	Corneal opacity	ORPHA:570
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Congenital Disorder Of Deglycosylation 1	Corneal ulceration, Corneal opacity	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	Sclerocornea, Cataract, Iris coloboma, Peters anomaly	OMIM:309801
Encephalocraniocutaneous Lipomatosis	Iris coloboma, Corneal opacity	ORPHA:2396
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Cataract, Abnormal pupil morphology, Corneal opacity, Buphthalmos	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	Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia	ORPHA:1578
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea	OMIM:300952
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Buphthalmos, Keratoconjunctivitis sicca, Corneal dystrophy, Corneal opacity	ORPHA:495875
Norrie Disease	Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Aplasia/Hypoplasia o...	ORPHA:649
Ablepharon Macrostomia Syndrome	Corneal erosion, Corneal opacity	ORPHA:920
Microphthalmia With Linear Skin Defects Syndrome	Sclerocornea, Posterior embryotoxon, Corneal opacity	ORPHA:2556
Mucopolysaccharidosis Type 6	Opacification of the corneal stroma	ORPHA:583
Phace Syndrome	Cataract, Heterochromia iridis, Sclerocornea, Lens coloboma, Iris coloboma	ORPHA:42775
Thrombocytopenia-Absent Radius Syndrome	Cataract, Corneal opacity	OMIM:274000
Lathosterolosis	Cataract, Microcornea, Opacification of the corneal stroma	ORPHA:46059
Mucopolysaccharidosis, Type Iva	Opacification of the corneal stroma	OMIM:253000
Larsen Syndrome	Corneal opacity	OMIM:150250
Peroxisome Biogenesis Disorder 1A (Zellweger)	Cataract, Brushfield spots, Opacification of the corneal stroma	OMIM:214100
Proboscis Lateralis	Cataract, Microcornea, Iris coloboma, Corneal opacity	ORPHA:141099
Tangier Disease	Corneal opacity	ORPHA:31150
Chime Syndrome	Corneal opacity	ORPHA:3474
Oculoectodermal Syndrome	Microcornea, Opacification of the corneal stroma, Limbal dermoid, Astigmatism	OMIM:600268
Benign Schwannoma	Allodynia	ORPHA:252164
Peters Plus Syndrome	Cataract, Microcornea, Peters anomaly, Corneal opacity, Iris coloboma, Anterior chamber synechiae	ORPHA:709
Galloway-Mowat Syndrome 1	Cataract, Opacification of the corneal stroma, Hypoplasia of the iris	OMIM:251300
Kindler Epidermolysis Bullosa	Conjunctivitis, Corneal opacity	ORPHA:2908
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Keratitis, Astigmatism, Corneal opacity, Conjunctivitis, Corneal erosion	ORPHA:2273
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Brushfield spots, Opacification of the corneal stroma	OMIM:614866
Meckel Syndrome	Sclerocornea, Cataract, Microcornea, Aplasia/Hypoplasia of the iris	ORPHA:564
Limb Body Wall Complex	Lens subluxation, Iris coloboma, Corneal opacity	ORPHA:2369
Microphthalmia, Syndromic 3	Sclerocornea, Cataract	OMIM:206900
Neurofibromatosis Type 1	Heterochromia iridis, Cataract, Lisch nodules, Corneal opacity	ORPHA:636
Williams Syndrome	Cataract, Megalocornea, Aplasia/Hypoplasia of the iris, Posterior embryotoxon, Blue irides, Corne...	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, Iris coloboma, Megalocornea	ORPHA:280
Smith-Lemli-Opitz Syndrome	Sclerocornea, Cataract, 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	Cataract, Keratitis, Pterygium, Conjunctival telangiectasia, Opacification of the corneal stroma	ORPHA:910
Neurocardiofaciodigital Syndrome	Sclerocornea, Cataract	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	Axillary pterygium, Popliteal pterygium, Pterygium, Opacification of the corneal stroma, Corneal ...	OMIM:263650
Fraser Syndrome 1	Corneal opacity	OMIM:219000
Cockayne Syndrome B	Microcornea, Opacification of the corneal stroma, Developmental cataract, Hypoplasia of the iris	OMIM:133540
Hutchinson-Gilford Progeria Syndrome	Corneal ulceration, Corneal opacity	ORPHA:740
Wilson Disease	Sunflower cataract, Kayser-Fleischer ring	OMIM:277900
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Allodynia	OMIM:603041
Hereditary Acrokeratotic Poikiloderma	Keratoconjunctivitis, Opacification of the corneal stroma	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	Sclerocornea, Cataract	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	Neurodegeneration, Seizure, Ataxia	OMIM:259050
Fryns Syndrome	Opacification of the corneal stroma	OMIM:229850
Digeorge Syndrome	Sclerocornea, Posterior embryotoxon	OMIM:188400
Microphthalmia, Syndromic 6	Sclerocornea, Microcornea	OMIM:607932
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent corneal erosions, Opacification of the corneal stroma, Keratitis, Corneal neovasculariz...	OMIM:308205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Opacification of the corneal stroma	OMIM:615287
Yunis-Varon Syndrome	Sclerocornea, Cataract	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 14 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Loss of TRIM29 mitigates viral myocarditis by attenuating PERK-driven ER stress response in male mice.	Nature communications (April 2024)	Trim29^{tm1c(EUCOMM)Wtsi} Trim29^{tm1a(EUCOMM)Wtsi}	PMC11045800
TRIM29 (Tripartite Motif Containing 29) Alleviates NLRC4 (NLR Family CARD Domain Containing Protein 4) Inflammasome Related Cerebral Injury via Promoting Proteasomal Degradation of NLRC4 in Ischemic Stroke.	Stroke (April 2023)	Trim29^{tm1a(EUCOMM)Wtsi}	37021569
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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Trim2 MGI:1933163

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Eye Morphology

Eye Morphology

X-ray

Eye Morphology

Eye Morphology

X-ray

X-ray

Human diseases caused by Trim2 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.1 Data