Gene Summary

Name:
tripartite motif-containing 2
Synonyms:
narf,  neural activity-related ring finger protein

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Trim2em1(IMPC)Bay HOM   Early adult 1.61×10-05 *
corneal opacity Trim2em1(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 Dorso Ventral

13 Images

Eye Morphology

VIP of right fundus

19 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

Eye Morphology

VIP of right eye

19 Images

Eye Morphology

VIP of left eye

19 Images

X-ray

XRay Images Forepaw

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Eye Morphology

VIP of left fundus

19 Images

X-ray

XRay Images Skull Lateral Orientation

13 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.

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Corneal dystrophy, lisch epithelial
Corneal dystrophy OMIM:300778
Optic Atrophy 2
Optic atrophy, Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Cerebral atrophy, Generalized myoclonic seizure, Cerebellar atrophy, Retinopathy, ... OMIM:610951
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Generalized myoclonic seizure, Retinal dystrophy, Seizure, Cerebellar atrophy, Ataxia OMIM:614706
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Seizure, Tremor, Ataxia OMIM:213000
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Hypertonia, Seizure, Cerebral cortical atrophy, Olivopontocerebellar atrophy, Atax... ORPHA:2732
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Spinocerebellar Ataxia 43
Limb ataxia, Distal sensory impairment, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigidity,... OMIM:617018
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy, Cerebral atrophy, Generalized myoclonic seizure, Myoclonic status epilepticus, Tru... OMIM:611726
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Cerebellar atrophy, Head tremor, Action tremor, Gait ataxia, Upper lim... ORPHA:98769
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Babinski sign, Limb ataxia, Lower limb spasticity, Cerebellar vermis atrophy, Spas... OMIM:614322
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Cerebral atrophy, Seizure, Rigidity, Ataxia, Loss of ambulation, Rod-cone dystrophy OMIM:609055
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Seizure, Cerebellar atrophy, Cerebral cortical atrophy, Limb tremor, Increase... OMIM:256731
Epilepsy, Progressive Myoclonic 7
Tremor, Cerebellar atrophy, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Myoclonus OMIM:616187
Spinocerebellar Ataxia 37
Tremor, Cerebellar atrophy, Frequent falls, Unsteady gait, Ataxia OMIM:615945
Spinocerebellar Ataxia Type 31
Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Impaired vibratory sensation ORPHA:217012
Spinocerebellar Ataxia 40
Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Tremor, Intention tremor, Gait ata... OMIM:616053
Spinocerebellar Ataxia Type 38
Difficulty walking, Tremor, Cerebellar atrophy, Gait ataxia, Somatic sensory dysfunction ORPHA:423296
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Focal-onset seizure, Abnormality of extrapyramidal motor function, Neuronal loss i... OMIM:615362
Camos Syndrome
Optic atrophy, Brain atrophy, Spasticity, Seizure, Progressive extrapyramidal movement disorder, ... ORPHA:83472
Spinocerebellar Ataxia, Autosomal Recessive 29
Inability to walk, Lower limb spasticity, Cerebellar vermis atrophy, Seizure, Cerebellar atrophy,... OMIM:619389
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem, Tremor, Gai... OMIM:615957
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Macular dystrophy, Hypertonia, Spasticity, Subcortical cerebral atrophy, Tremor, S... ORPHA:33445
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Spastic gait, Babinski sign, Chiari type I malformation, Impaired distal proprioception, Spastici... OMIM:619742
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Optic atrophy, Babinski sign, Difficulty walking, Lower limb spasticity, Atrophy/Degeneration aff... OMIM:612319
Spinocerebellar Ataxia Type 37
Falls, Cerebellar vermis atrophy, Dysdiadochokinesis, Tremor, Truncal ataxia, Myoclonus, Cogwheel... ORPHA:363710
Ceroid Lipofuscinosis, Neuronal, 8
Cerebral atrophy, Seizure, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, At... OMIM:600143
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Cerebellar... OMIM:615268
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Seizure, Cerebellar atrophy, Intention tremor, Rigidity, Ataxia, Gi... OMIM:618876
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Generalized myoclonic seizure, Difficulty walking, Focal-onset seizure, Inability ... ORPHA:330050
Migraine, Familial Hemiplegic, 1
Seizure, Tremor, Cerebellar atrophy, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Corneal dystrophy, Map-dot-fingerprint corneal dystrophy OMIM:121820
Ceroid Lipofuscinosis, Neuronal, 2
Cerebral atrophy, Seizure, Retinal degeneration, Increased neuronal autofluorescent lipopigment, ... OMIM:204500
Spinocerebellar Ataxia 41
Cerebellar vermis atrophy, Cerebellar atrophy, Gait ataxia, Unsteady gait, Ataxia OMIM:616410
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Generalized non-motor (absence) seizure, Inability to walk, Apraxia, Spasticity, T... OMIM:617810
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Abnormality of extrapyramidal motor function, Seizure, Bilateral tonic-clonic seizure, Abnormal c... OMIM:162350
Diaminopentanuria
Seizure, Spasticity, Neurodegeneration, Ataxia OMIM:222350
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Seizure, Gait disturbance, Dyst... OMIM:614561
Nescav Syndrome
Optic atrophy, Cerebral atrophy, Babinski sign, Inability to walk, Appendicular spasticity, Cereb... OMIM:614255
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech OMIM:160120
Ataxia-Tapetoretinal Degeneration Syndrome
Gait disturbance, Ataxia, Rod-cone dystrophy, Aplasia/Hypoplasia of the cerebellum, Pigmentary re... ORPHA:1178
Dystonia 23
Torticollis, Writer's cramp, Axial dystonia, Cerebellar atrophy, Limb dystonia, Head tremor, Cere... OMIM:614860
Morquio Syndrome C
Corneal opacity OMIM:252300
Thiel-Behnke Corneal Dystrophy
Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop... ORPHA:98960
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Retinal dysplasia OMIM:615041
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atrophy, Seizure, Freq... OMIM:607317
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Impaired distal proprioception, Neuronal loss in central nervous syst... OMIM:610245
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Spinocerebellar Ataxia 7
Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor ... OMIM:164500
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Spinocerebellar Ataxia Type 12
Cerebral atrophy, Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Cerebell... ORPHA:98762
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Seizure, Neurodegeneration OMIM:613068
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Unsteady gait... OMIM:615768
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Generalized myoclonic seizure, Inability to walk, Cerebellar vermis hypoplasia, Tremor, Cerebella... OMIM:618090
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral atrophy, Inability to walk, Abnormality of extrapyramidal motor function, Chorea, Spasti... OMIM:617672
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Tremor, Hereditary Essential, 6
Cerebellar atrophy, Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebral atrophy, Babinski sign, Bradykinesia, Apraxia, Falls, Spasticity, Seizure, Cerebellar at... OMIM:300423
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Cerebellar atrophy, Gait ataxia, Inten... ORPHA:101110
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Cerebellar atrophy, Head tremo... OMIM:604326
Cerebellar Ataxia, Cayman Type
Bradykinesia, Broad-based gait, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Intention tremor... OMIM:601238
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Cerebellar atrophy, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria OMIM:617917
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Cerebellar ve... ORPHA:284332
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con... OMIM:180550
Spinocerebellar Ataxia Type 35
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Cereb... ORPHA:276193
Cataract 21, Multiple Types
Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I... OMIM:610202
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Spastic Paraplegia 79B, Autosomal Recessive
Fasciculations, Cerebellar atrophy, Spastic paraplegia, Head titubation, Ataxia, Impaired vibrato... OMIM:615491
Spinocerebellar Ataxia 35
Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Cerebell... OMIM:613908
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Cerebral atrophy, Bradykinesia, Seizure, Tremor, Cerebellar atrophy, Abnormal auto... ORPHA:329284
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Spastic Ataxia 2, Autosomal Recessive
Cerebral atrophy, Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atro... OMIM:611302
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Progressive gait ataxia, Dysmetria OMIM:607458
Lichtenstein-Knorr Syndrome
Limb ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Acti... OMIM:616291
Stxbp1-Related Encephalopathy
Epileptic spasm, Generalized myoclonic seizure, Inability to walk, Spasticity, Tremor, Focal moto... ORPHA:599373
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigid... ORPHA:98763
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Abnormality of extrapyramidal motor function, Tremor, Optic disc pallor OMIM:165300
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Seizure, Ataxia, Abnormal pyram... ORPHA:79262
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Leukoencephalopathy, Progressive, With Ovarian Failure
Babinski sign, Apraxia, Spasticity, Cerebellar atrophy, Dystonia, Ataxia, Hand tremor, Neurodegen... OMIM:615889
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea OMIM:217300
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Gait imbalance, Seizure, Cerebellar atrophy, Frequent falls, Bilat... OMIM:301020
Neuropathy, Ataxia, And Retinitis Pigmentosa
Corticospinal tract atrophy, Seizure, Retinopathy, Retinal pigment epithelial mottling, Ataxia, R... OMIM:551500
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Truncal ataxia, Cerebellar atrophy, Intention tremor, Ataxia, Unsteady gai... OMIM:616948
Encephalopathy, Progressive, With Or Without Lipodystrophy
Cerebral atrophy, Neuronal loss in central nervous system, Spasticity, Tremor, Seizure, Dystonia,... OMIM:615924
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ... OMIM:136800
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Inability to walk, Dysdiadochokinesis, Tremor, Cerebellar ... OMIM:614831
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Cerebellar hypoplasia, Abnormality of retinal pigmentation, Ataxia ORPHA:2246
Autosomal Recessive Spastic Paraplegia Type 67
Spastic gait, Babinski sign, Difficulty walking, Lower limb spasticity, Cerebral cortical atrophy... ORPHA:401820
Spinocerebellar Ataxia, Autosomal Recessive 15
Seizure, Cerebellar atrophy, Gait ataxia, Unsteady gait, Ataxia OMIM:615705
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Global brain atrophy, Aplasia of the inferior half of the cerebellar vermis, Atrophy of the denta... OMIM:610185
Neurodegeneration With Brain Iron Accumulation 5
Cerebral atrophy, Bradykinesia, Akinesia, Seizure, Tremor, Cerebellar atrophy, Abnormal autonomic... OMIM:300894
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Generalized myoclonic seizure, Difficulty walking, Myoclonic status epilepticus... ORPHA:2590
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Brain atrophy, Chorea, Tremor, Cerebellar atrophy, Spasticity, Poor fine motor ... ORPHA:79263
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Falls, Truncal ataxia, Atrophy/Degeneration affecting the brainstem, Cerebellar atro... OMIM:616230
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Chorea, Seizure, Dystonia, Ataxia, Parkinsonism, Myoclonus, Chore... OMIM:125370
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Generalized myoclonic seizure, Tremor, Atonic seizure, Ataxia, Myoclonus, Dysmetria OMIM:612437
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Galactosialidosis
Corneal opacity ORPHA:351
X-Linked Non Progressive Cerebellar Ataxia
Spastic dysarthria, Cerebellar vermis hypoplasia, Truncal ataxia, Frequent falls, Intention tremo... ORPHA:314978
Spinocerebellar Ataxia, X-Linked 1
Abnormality of extrapyramidal motor function, Cerebellar atrophy, Intention tremor, Action tremor... OMIM:302500
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Spinocerebellar Ataxia Type 40
Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Intention tremor, Gait ataxia, Uns... ORPHA:423275
Dystonia 22, Juvenile-Onset
Oromandibular dystonia, Torticollis, Lower limb spasticity, Dysdiadochokinesis, Cerebellar atroph... OMIM:620453
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Optic atrophy, Difficulty walking, Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Se... ORPHA:529665
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion OMIM:608470
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Tremor, Bilatera... OMIM:617831
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Spasticity, Seizure, Cerebellar atrophy, Ataxia, Spastic tetraplegia OMIM:617207
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebellar atrophy, Gait apraxia, Gait ataxia, Ataxia, Babinski sign, Limb fascic... OMIM:615157
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebral atrophy, Babinski sign, Bradykinesia, Oromandibular dystonia, Scissor gait, Spasticity, ... ORPHA:521406
Spinocerebellar Ataxia 48
Babinski sign, Chorea, Tremor, Cerebellar atrophy, Bilateral tonic-clonic seizure, Gait ataxia, D... OMIM:618093
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Resting tremor, Seizure, Cerebellar atrophy, Craniofacial dystonia, Li... ORPHA:71517
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebral atrophy, Babinski sign, Positive Romberg sign, Spasticity, Seizure, Cerebellar atrophy, ... OMIM:618088
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset... ORPHA:36387
Spinocerebellar Ataxia, Autosomal Recessive 18
Babinski sign, Oculomotor apraxia, Cerebellar vermis atrophy, Incoordination, Truncal ataxia, Cer... OMIM:616204
Behr Syndrome
Optic atrophy, Babinski sign, Cerebellar vermis atrophy, Truncal ataxia, Tremor, Cerebellar atrop... OMIM:210000
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Seizure, Tremor, Frequent falls, Unsteady gait OMIM:616921
Epilepsy, Familial Adult Myoclonic, 4
Enhancement of the C-reflex, Seizure, Tremor, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Cerebellar vermis atrophy, Incoordination, Tremor, Spasticity, Gait ataxia, Dilated ... OMIM:213200
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Difficulty walking, Broad-based gait, Cerebellar vermis atrophy, Poor fine motor coordination, Ce... ORPHA:512260
Alpha-Methylacyl-Coa Racemase Deficiency
Focal-onset seizure, Spasticity, Tremor, Seizure, Intention tremor, Hemiparesis, Ataxia, Status e... OMIM:614307
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction... ORPHA:216873
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Seizure, Rigidity, Dys... OMIM:612438
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Tremor, Cerebellar ... OMIM:619028
Granular Corneal Dystrophy Type Ii
Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube... ORPHA:98963
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Bilateral tonic-clonic seizure, Dystonia, At... OMIM:618425
Spinocerebellar Ataxia 29
Limb ataxia, Truncal titubation, Broad-based gait, Cerebellar vermis hypoplasia, Cerebellar vermi... OMIM:117360
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Focal-onset seizure, Enhancement of the C-reflex, Tremor, Bilateral tonic-clo... OMIM:613608
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Retinal telangiectasia, Neurodegeneration, Cerebellar atrophy, Gait ataxia ORPHA:438134
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Degeneration of the striatum, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidit... OMIM:609161
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Cerebellar atrophy, Intention tremor, Gait ataxia, Ataxia, Clumsiness, Dysmetria OMIM:608029
Spinocerebellar Ataxia 50
Apraxia, Chorea, Cerebellar vermis atrophy, Cerebellar atrophy, Head tremor, Action tremor, Ataxi... OMIM:620158
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Enhancement of the C-reflex, Tremor, Bilateral tonic-clonic seizur... OMIM:601068
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Spasticity, Tremor, Seizure, Cerebral cortical atrophy, Ataxia OMIM:300983
Dravet Syndrome
Cerebral atrophy, Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalize... OMIM:607208
Multiple Mitochondrial Dysfunctions Syndrome 6
Optic atrophy, Inability to walk, Atrophy/Degeneration affecting the brainstem, Spasticity, Seizu... OMIM:617954
Boucher-Neuhauser Syndrome
Retinal dystrophy, Spinocerebellar atrophy, Abnormal upper motor neuron morphology, Spasticity, C... OMIM:215470
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Cerebellar atrophy, Clumsiness, Optic atrophy, Babinski sign, Hypertonia, Difficulty walking, Imp... ORPHA:137898
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Generalized myoclonic seizure, Chiari type I malformation, Myoclonic absence seizur... OMIM:617836
Progressive Myoclonic Epilepsy Type 3
Optic atrophy, Cerebral atrophy, Focal myoclonic seizure, Progressive cerebellar ataxia, Photosen... ORPHA:263516
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Seizure, Gait disturbance, Cerebella... OMIM:213600
Peroxisome Biogenesis Disorder 8B
Cerebellar atrophy, Corpus callosum atrophy, Gait ataxia, Rigidity, Ataxia, Optic atrophy, Babins... OMIM:614877
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Inferior cerebellar vermis hypoplasia, Broad-based gait, Cerebellar ataxia associated with quadru... OMIM:224050
Spinocerebellar Ataxia, Autosomal Recessive 17
Limb ataxia, Oculomotor apraxia, Broad-based gait, Cerebellar vermis hypoplasia, Truncal ataxia, ... OMIM:616127
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul... ORPHA:65684
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Truncal ataxia, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic sei... OMIM:618587
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim... OMIM:600363
Spastic Paraplegia 78, Autosomal Recessive
Bradykinesia, Babinski sign, Distal sensory impairment, Falls, Resting tremor, Impaired tactile s... OMIM:617225
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Gait disturbance... OMIM:617145
Spinocerebellar Ataxia Type 17
Cerebellar Purkinje layer atrophy, Torticollis, Writer's cramp, Neuronal loss in central nervous ... ORPHA:98759
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Steppage gait, Distal sensory impairment, Tremor, Cerebellar atrophy, Gait ataxia, Ataxia, Dysmetria OMIM:618387
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Neurodegeneration With Brain Iron Accumulation 7
Cerebral atrophy, Lower limb spasticity, Tremor, Cerebellar atrophy, Dystonia, Ataxia, Loss of am... OMIM:617916
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Seizure, Tremor, Cerebellar atrophy, Ataxia, Myoclonus, Abnormal py... OMIM:612016
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Lopes-Maciel-Rodan Syndrome
Cerebral atrophy, Bradykinesia, Hypertonia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebe... OMIM:617435
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Spinocerebellar Ataxia 17
Bradykinesia, Limb ataxia, Apraxia, Broad-based gait, Neuronal loss in central nervous system, Ch... OMIM:607136
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Difficulty walking, Myoclonic status epilepticus, Tremor... OMIM:614018
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Seizure, Tremor, Cerebellar atrophy, Dystonia, Myoclonus, Abnormal... ORPHA:139485
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Spinocerebellar Ataxia, Autosomal Recessive 32
Bradykinesia, Limb ataxia, Abnormal nerve conduction velocity, Torticollis, Atrophy/Degeneration ... OMIM:619862
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Limb ataxia, Progressive cerebellar ataxia, Fasciculations, Macular degeneration, Truncal ataxia,... ORPHA:284289
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia... ORPHA:284324
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Babinski sign, Spasticity, Tremor, Cerebellar atrophy, Seizure, Cerebral cortical ... OMIM:607694
Autosomal Spastic Paraplegia Type 58
Cerebral atrophy, Babinski sign, Tip-toe gait, Torticollis, Erratic myoclonus, Fasciculations, Ch... ORPHA:397946
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ... ORPHA:293603
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Abnormal cerebellar peduncle mo... ORPHA:98
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Writer's cramp, Focal motor seizure, Bilateral tonic-clonic seizure, Prolong... OMIM:608105
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Involuntary movements, Atonic seizure, Myoclonus, Postural tremor, Kinetic tremor OMIM:611092
Spinocerebellar Ataxia 19
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cerebellar atrophy, Cogwheel rigidity... OMIM:607346
Peroxisome Biogenesis Disorder 5B
Oculomotor apraxia, Retinal dystrophy, Tremor, Cerebellar atrophy, Ataxia, Unsteady gait, Rod-con... OMIM:614867
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Neuronal loss in central ne... OMIM:256600
Ceroid Lipofuscinosis, Neuronal, 10
Cerebral atrophy, Neuronal loss in central nervous system, Spasticity, Retinal atrophy, Cerebella... OMIM:610127
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Intention tremor, Gait ataxia, Unsteady gait,... OMIM:615386
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto... ORPHA:464440
Paroxysmal Exertion-Induced Dyskinesia
Paroxysmal dyskinesia, Generalized non-motor (absence) seizure, Lower limb spasticity, Torsion dy... ORPHA:98811
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Babinski sign, Oromandibular dystonia, Abnormality of extrapyramidal motor functio... OMIM:614298
Spinocerebellar Ataxia 2
Oculomotor apraxia, Fasciculations, Cerebellar atrophy, Action tremor, Rigidity, Ataxia, Myoclonu... OMIM:183090
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Difficulty walking, Low... ORPHA:251282
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized myoclonic seizure, Difficulty walking, Tongue fasciculations, Tremor, Facial palsy, G... OMIM:159950
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Cerebral atrophy, Babinski sign, Hypertonia, Bradykinesia, Chorea, Spasticity, Dys... OMIM:610217
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Tremor, Bilateral tonic-clonic seizure, Myoclonus, Focal sensory seizure with visual features, Fo... OMIM:615400
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Combined Oxidative Phosphorylation Defect Type 29
Global brain atrophy, Axonal degeneration, Abnormal autonomic nervous system physiology, Optic ne... ORPHA:478029
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Neurodegeneration With Brain Iron Accumulation 6
Bradykinesia, Tip-toe gait, Oromandibular dystonia, Gait disturbance, Rigidity, Dystonia, Spastic... OMIM:615643
Dystonia 27
Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
Atypical Juvenile Parkinsonism
Bradykinesia, Akinesia, Inability to walk, Resting tremor, Brain atrophy, Seizure, Shuffling gait... ORPHA:391411
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia ORPHA:309169
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus, Tremor, Myoclonic seizure, Atonic seiz... OMIM:616421
Macular Corneal Dystrophy
Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy... ORPHA:98969
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Developmental And Epileptic Encephalopathy 47
Limb ataxia, Focal-onset seizure, Inability to walk, Cerebellar atrophy, Gait disturbance, Bilate... OMIM:617166
Granular Corneal Dystrophy Type I
Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ... ORPHA:98962
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Glutathione Synthetase Deficiency
Seizure, Spastic tetraparesis, Intention tremor, Ataxia, Pigmentary retinopathy OMIM:266130
Developmental And Epileptic Encephalopathy 97
Epileptic spasm, Seizure, Tremor, Inability to walk OMIM:619561
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Tremor, Cerebellar atrophy, ... OMIM:616795
Bilateral Frontoparietal Polymicrogyria
Generalized myoclonic seizure, Typical absence seizure, Gait imbalance, Cerebellar vermis hypopla... ORPHA:101070
4H Leukodystrophy
Optic atrophy, Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Tremor, Cerebell... ORPHA:289494
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Falls, Resting tremor, Subcortical cerebral atrophy, Shuffling gait, Cerebral corti... ORPHA:306692
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebral atrophy, Steppage gait, Distal sensory impairment, Impaired distal proprioception, Seizu... OMIM:607250
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Cerebellar atrophy, ... ORPHA:93952
Hsd10 Disease
Frontotemporal cerebral atrophy, Optic atrophy, Seizure, Tremor, Gait disturbance, Rigidity, Atax... ORPHA:391417
Myoclonic Epilepsy, Familial Infantile
Limb ataxia, Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic ... OMIM:605021
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Chorea, Seizure, Exaggerated startle response, Dystonia, Cherry red spot of the... ORPHA:309246
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, R... ORPHA:370022
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Tremor, Cerebellar atrophy, Gait distu... ORPHA:98764
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Oculomotor apraxia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Poor motor... ORPHA:1170
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Writer's cramp, Torticollis, Resting tremor, Incoordination, Spastic... OMIM:128230
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Cerebellar atrophy, Ataxia, Myoclonus OMIM:616494
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal dystrophy, Corneal scarring OMIM:602082
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Babinski sign, Difficulty walking, Distal sensory impairment, Axonal degeneration, ... OMIM:302800
Spinocerebellar Ataxia Type 2
Cerebellar Purkinje layer atrophy, Progressive cerebellar ataxia, Fasciculations, Chorea, Gait at... ORPHA:98756
Spinocerebellar Ataxia 13
Optic atrophy, Limb ataxia, Progressive cerebellar ataxia, Limb dysmetria, Spasticity, Cerebellar... OMIM:605259
Primary Dystonia, Dyt13 Type
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio... ORPHA:98807
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Distal sensory impairment, Impaired pain sensation, Cerebellar vermis atrophy, Spast... OMIM:616719
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Developmental And Epileptic Encephalopathy 56
Generalized non-motor (absence) seizure, Broad-based gait, Focal motor seizure, Seizure, Action t... OMIM:617665
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Cerebral atrophy, Seizure, Tremor, Retinopathy, Dystonia, Ataxia, Cerebellar hypop... OMIM:619422
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Corneal dystrophy, Corneal guttata, Abnormal Descemet membrane morphology,... OMIM:613270
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Seizure, Tremor, Spastic tetraparesis OMIM:619470
Parkinsonism-Dystonia 3, Childhood-Onset
Global brain atrophy, Hypertonia, Hyperkinetic movements, Chorea, Tremor, Cerebellar atrophy, Act... OMIM:619738
Spinocerebellar Ataxia Type 10
Babinski sign, Progressive cerebellar ataxia, Gait imbalance, Lower limb spasticity, Dysdiadochok... ORPHA:98761
Spinocerebellar Ataxia 15
Limb ataxia, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Action tremor, Postural tremor OMIM:606658
Developmental And Epileptic Encephalopathy 32
Seizure, Tremor, Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure... OMIM:616366
Developmental And Epileptic Encephalopathy 42
Hypertonia, Tremor, Athetosis, Focal tonic seizure, Bilateral tonic-clonic seizure, Tonic seizure... OMIM:617106
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Corneal... ORPHA:171673
Winchester Syndrome
Corneal opacity OMIM:277950
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Impaired proprioception, Oromandibular dystonia, Progressive cerebellar ataxia, Dyss... ORPHA:101
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Poretti-Boltshauser Syndrome
Retinal thinning, Cerebellar cyst, Retinal dystrophy, Oculomotor apraxia, Cerebellar vermis hypop... OMIM:615960
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Rigidity,... OMIM:606159
Dravet Syndrome
Epilepsia partialis continua, Focal-onset seizure, Incoordination, Action tremor, Atypical absenc... ORPHA:33069
Fuchs Endothelial Corneal Dystrophy
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of... ORPHA:98974
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Cerebral atrophy, Difficulty walking, Limb hypertonia, Brain atrophy, Spasticity, ... ORPHA:442835
Congenital Disorder Of Glycosylation, Type Iibb
Cerebellar vermis hypoplasia, Spasticity, Tremor, Cerebellar atrophy, Tonic seizure, Myoclonic se... OMIM:620546
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebral atrophy, Tremor, Cerebellar atrophy, Titubation, Ataxia, Unsteady gait, Dysmetria OMIM:619405
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Difficulty walking, Tremor, Vocal cord paralysis, Vocal cord paresis, Abnormal motor nerve conduc... OMIM:158580
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Babinski sign, Decreased sensory nerve conduction velocity, Hypertonia, Distal sen... OMIM:609260
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Babinski sign, Hypertonia, Steppage gait, Distal sensory impairment, Tremor, Cereb... OMIM:616505
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Optic atrophy, Cerebral atrophy, Hypertonia, Limb hypertonia, Seizure, Tremor, Cerebellar atrophy... OMIM:617710
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis, Writer's cramp OMIM:159900
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Seizure, Tremor, Bilateral tonic-clonic seizure, Paraparesis, ... OMIM:612736
Spinocerebellar Ataxia 27B, Late-Onset
Limb ataxia, Postural tremor, Cerebellar atrophy, Gait ataxia OMIM:620174
Tremor-Ataxia-Central Hypomyelination Syndrome
Optic atrophy, Babinski sign, Focal-onset seizure, Spastic dysarthria, Impaired distal propriocep... ORPHA:447896
Null Syndrome
Optic atrophy, Decreased nerve conduction velocity, Difficulty walking, Inability to walk, Abnorm... ORPHA:280234
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Distal sensory impairment, Oculomotor apraxia, Axonal degeneration, Chorea, Truncal ... OMIM:208920
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor, Distal sensory impairment, Difficulty walking OMIM:615048
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Cerebral atrophy, Bradykinesia, Distal sensory impairment, Optic neuritis, Parkins... ORPHA:254886
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Cerebellar hypoplasia, Tremor, Ataxia, Limb dystonia OMIM:620270
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Distal sensory impairment, Spa... OMIM:612674
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Cerebellar atr... OMIM:614487
Spinocerebellar Ataxia 5
Limb ataxia, Broad-based gait, Incoordination, Dysdiadochokinesis, Cerebellar atrophy, Upper moto... OMIM:600224
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Tremor, Loss of ambulation OMIM:182980
Spinocerebellar Ataxia Type 1
Optic atrophy, Bradykinesia, Impaired proprioception, Progressive cerebellar ataxia, Abnormal ner... ORPHA:98755
Spinocerebellar Ataxia Type 29
Oculomotor apraxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxi... ORPHA:208513
Neurotrophic Keratopathy
Recurrent corneal erosions, Astigmatism, Corneal ulceration, Corneal stromal edema, Corneal scarr... ORPHA:137596
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Bilateral ... ORPHA:254881
Anterior Segment Dysgenesis 5
Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac... OMIM:604229
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Truncal ataxia, Spasticity, Dysdiadochokinesis, Cerebellar atrophy... ORPHA:352403
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Optic atrophy, Cerebral atrophy, Hyperkinetic movements, Seizure... ORPHA:391428
Leukoencephalopathy With Ataxia
Limb ataxia, Choroidal neovascularization, Chorioretinal atrophy, Retinoschisis, Optic neuropathy... OMIM:615651
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal vestibulo-ocular reflex, Babinski sign, Akinesia, Cerebellar cortical atrophy, Abnormal ... ORPHA:247234
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturba... ORPHA:99014
Dystonia 28, Childhood-Onset
Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ... OMIM:617284
Epithelial Recurrent Erosion Dystrophy
Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,... ORPHA:293381
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
L-2-Hydroxyglutaric Aciduria
Optic atrophy, Global brain atrophy, Abnormality of extrapyramidal motor function, Seizure, Spast... OMIM:236792
Corticobasal Syndrome
Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid... ORPHA:454887
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Parkinsonism With Polyneuropathy
Bradykinesia, Decreased compound muscle action potential amplitude, Resting tremor, Parkinsonism ... OMIM:619279
Urocanase Deficiency
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria OMIM:276880
Caribbean Parkinsonism
Bradykinesia, Orthostatic hypotension, Apraxia, Abnormal autonomic nervous system physiology, Cer... ORPHA:97355
Adult-Onset Cervical Dystonia, Dyt23 Type
Difficulty walking, Torticollis, Writer's cramp, Axial dystonia, Cerebellar atrophy, Craniofacial... ORPHA:420492
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Cerebellar... ORPHA:98773
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Dystonia, Frequent falls, Myoclonus OMIM:619647
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Tremor, Focal motor seizure, Seizure, Gait disturbance, Cerebellar dentate nucleus ca... ORPHA:542310
Pelizaeus-Merzbacher Disease
Optic atrophy, Global brain atrophy, Writer's cramp, Inability to walk, Broad-based gait, Cerebel... OMIM:312080
Spinocerebellar Ataxia, Autosomal Recessive 7
Limb ataxia, Babinski sign, Truncal titubation, Oculomotor apraxia, Cerebellar atrophy, Gait atax... OMIM:609270
Parkinson Disease 2, Autosomal Recessive Juvenile
Cerebral atrophy, Babinski sign, Pill-rolling tremor, Bradykinesia, Resting tremor, Tremor, Shuff... OMIM:600116
Glut1 Deficiency Syndrome 2
Cerebral atrophy, Seizure, Tremor, Dystonia, Ataxia, Choreoathetosis OMIM:612126
Spinocerebellar Ataxia 44
Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Frequent falls, Gait ataxia, Ataxia, Dysmetria OMIM:617691
Pyruvate Dehydrogenase E2 Deficiency
Babinski sign, Hypertonia, Difficulty walking, Paroxysmal dystonia, Broad-based gait, Gait distur... ORPHA:79244
Spinocerebellar Ataxia Type 13
Optic atrophy, Bradykinesia, Limb ataxia, Difficulty walking, Torticollis, Seizure, Cerebellar at... ORPHA:98768
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Corneal opacity, Iris coloboma ORPHA:1473
Ataxia With Vitamin E Deficiency
Hypertonia, Dysdiadochokinesis, Tremor, Gait disturbance, Hemiplegia/hemiparesis, Abnormality of ... ORPHA:96
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Spastic gait, Babinski sign, Paroxysmal dyskinesia, Seizure, Cerebellar atrophy, Optic neuropathy... OMIM:620538
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Eyelid myoclonus, Pontocerebellar atrophy, Oculomotor apraxia, Incoordination, Seizure, Tremor, A... OMIM:618060
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Impaired distal vibration sensa... ORPHA:276435
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Brain atrophy, Tremor, Hemiparesis, Dystonia, Parkinsonism, Cer... ORPHA:306669
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Seizure, Tremor, Dystonia, Myoclonus, Choreoathetosis OMIM:261630
Krabbe Disease
Optic atrophy, Hypertonia, Decreased nerve conduction velocity, Decerebrate rigidity, Seizure, Pr... OMIM:245200
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Seizure, Cogwheel rigidity... ORPHA:363654
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturbance, Ataxia ORPHA:101075
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Akinesia, Resting tremor, Freezing of gait, Focal motor seizure, Seizure, Bilateral... OMIM:619911
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Dysdiadochokine... OMIM:614381
Atypical Rett Syndrome
Pill-rolling tremor, Generalized myoclonic seizure, Neonatal seizure, Inability to walk, Apraxia,... ORPHA:3095
Inherited Creutzfeldt-Jakob Disease
Bradykinesia, Babinski sign, Senile plaques, Global brain atrophy, Progressive cerebellar ataxia,... ORPHA:282166
Combined Oxidative Phosphorylation Deficiency 45
Seizure, Tremor, Ataxia OMIM:618951
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Hypertonia, Focal-onset seizure, Impaired tactile sensation, Bilateral tonic-clonic seizure with ... OMIM:619092
Spinocerebellar Ataxia 34
Limb ataxia, Fasciculations, Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Cer... OMIM:133190
Proximal Myopathy With Extrapyramidal Signs
Optic atrophy, Difficulty walking, Progressive extrapyramidal muscular rigidity, Resting tremor, ... ORPHA:401768
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract OMIM:116200
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Cerebral atrophy, Hemiballismus, Hypertonia, Bradykinesia, Inability to walk, Truncal ataxia, Spa... OMIM:618877
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Abnormality of macular pigmentation, Seizure, Tremor, Facial p... ORPHA:97229
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Global brain atrophy, Axonal degeneration, Spasticity, Seizure, Cerebellar atrophy... OMIM:616811
Combined Oxidative Phosphorylation Deficiency 32
Optic atrophy, Inability to walk, Spasticity, Tremor, Cerebellar atrophy, Seizure, Dystonia, Chor... OMIM:617664
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Oculomotor apraxia, Retinal atrophy, Cerebellar atrophy, Corpus callosum atrophy, Rigidity, Impai... ORPHA:412057
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Hypertonia, Chorea, Seizure, Spastic tetraparesis, Exaggerated startle response... OMIM:272750
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic atrophy, Babinski sign, Paroxysmal dyskinesia, Chorea, Spasticity, Athetosis, Blepharospasm... OMIM:617282
Hypermanganesemia With Dystonia 2
Cerebral atrophy, Babinski sign, Bradykinesia, Oromandibular dystonia, Generalized dystonia, Scis... OMIM:617013
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Migraine, Familial Hemiplegic, 2
Apraxia, Focal motor seizure, Tremor, Cerebellar atrophy, Episodic ataxia, Bilateral tonic-clonic... OMIM:602481
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Shuffling gait, Abnormal autonomic... OMIM:618049
Spinocerebellar Ataxia, Autosomal Recessive 11
Limb ataxia, Cerebellar vermis atrophy, Truncal ataxia, Cerebellar atrophy, Gait disturbance, Ataxia OMIM:614229
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Cerebellar atrophy, Abnormal p... OMIM:608768
Spinocerebellar Ataxia 6
Abnormal vestibulo-ocular reflex, Progressive cerebellar ataxia, Incoordination, Truncal ataxia, ... OMIM:183086
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Incre... ORPHA:98973
Severe Neurodegenerative Syndrome With Lipodystrophy
Cerebral atrophy, Neuronal loss in central nervous system, Spasticity, Tremor, Seizure, Poor moto... ORPHA:363400
Neuronal Intranuclear Inclusion Disease
Decreased sensory nerve conduction velocity, Seizure, Tremor, Gait disturbance, Rigidity, Ataxia,... OMIM:603472
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia, Infantile spasms OMIM:278780
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Distal sensory impairment, Axonal degeneration, Fasciculations, Tetraplegia, Gait disturbance, De... OMIM:604484
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturbance, Ataxia ORPHA:101078
Familial Infantile Myoclonic Epilepsy
Simple febrile seizure, Focal-onset seizure, Generalized myoclonic seizure, Bilateral tonic-cloni... ORPHA:352582
Brittle Cornea Syndrome 2
Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ... OMIM:614170
Fragile X Tremor/Ataxia Syndrome
Bradykinesia, Resting tremor, Poor fine motor coordination, Dysdiadochokinesis, Cerebellar atroph... OMIM:300623
Spinocerebellar Ataxia Type 36
Limb ataxia, Babinski sign, Difficulty walking, Fasciculations, Tongue fasciculations, Truncal at... ORPHA:276198
Developmental And Epileptic Encephalopathy 4
Cerebral atrophy, Epileptic spasm, Generalized myoclonic seizure, Generalized tonic seizure, Trem... OMIM:612164
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Neuronal loss in central nervous system, Spasticity, Seizure, Cerebellar atrophy, ... OMIM:616239
Myopathy With Extrapyramidal Signs
Optic atrophy, Difficulty walking, Abnormality of extrapyramidal motor function, Chorea, Seizure,... OMIM:615673
X-Linked Charcot-Marie-Tooth Disease Type 3
Difficulty walking, Inability to walk, Tremor, Gait disturbance, Decreased motor nerve conduction... ORPHA:101077
Spastic Paraplegia 39, Autosomal Recessive
Babinski sign, Atrophy of the spinal cord, Cerebellar atrophy, Gait disturbance, Ataxia, Progress... OMIM:612020
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Dysdiadochokinesis, Gait ataxia, Int... ORPHA:504476
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Impaired proprioception, Bone spicule pigmentation of the retina, Truncal titubation, Axonal dege... ORPHA:88628
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Cerebral atrophy, Tremor, Ataxia OMIM:618637
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Dystonia 1, Torsion, Autosomal Dominant
Babinski sign, Hypertonia, Oromandibular dystonia, Writer's cramp, Torticollis, Inability to walk... OMIM:128100
Aceruloplasminemia
Limb ataxia, Akinesia, Torticollis, Abnormal dentate nucleus morphology, Chorea, Macular degenera... ORPHA:48818
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Late-Infantile/Juvenile Krabbe Disease
Acroparesthesia, Delayed brainstem auditory evoked response conduction time, Decreased nerve cond... ORPHA:206443
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Dystonia, Myoclonus OMIM:619651
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Gait ... OMIM:137440
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Titubation, Head tremor, Gait ataxia, Somatic sensory dysfunction, Dysmetria ORPHA:98771
Neurodegeneration With Brain Iron Accumulation 1
Rigidity, Ataxia, Optic atrophy, Babinski sign, Akinesia, Tremor, Blepharospasm, Cerebral degener... OMIM:234200
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Difficulty walking, Broad-based gait, Seizure, Tremor, Spastic paraplegia, Febrile... ORPHA:477673
Mohr-Tranebjaerg Syndrome
Optic atrophy, Babinski sign, Global brain atrophy, Oromandibular dystonia, Generalized dystonia,... ORPHA:52368
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Difficulty walking, Focal-onset seizure, Chiari type I malformation, Dandy-Walker ... OMIM:618476
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Decreased nerve conduction velocity, Ataxia, Tremor ORPHA:1368
Spinocerebellar Ataxia 21
Limb ataxia, Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor functio... OMIM:607454
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Hypertonia, Truncal titubation, Limb hypertonia, Seizure, Tremor, Cerebellar atrophy, Exaggerated... OMIM:618056
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Atrophy/Degeneration affecting the brainstem, Impaired distal vibration sensation, ... ORPHA:99027
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Akinesia, Distal sensory impairment, Torticollis, Spasti... OMIM:606693
Cerebral Visual Impairment
Optic atrophy, Oculomotor apraxia, Optic nerve hypoplasia, Clumsiness, Seizure, Central nervous s... ORPHA:447788
Developmental And Epileptic Encephalopathy 46
Cerebral atrophy, Limb hypertonia, Seizure, Tremor, Generalized-onset seizure OMIM:617162
Phenylketonuria
Seizure, Tremor, Ataxia, Lower limb spasticity ORPHA:716
Dystonia 12
Bradykinesia, Torticollis, Tremor, Dystonia, Unsteady gait, Parkinsonism OMIM:128235
Amyotrophic Lateral Sclerosis 4, Juvenile
Babinski sign, Difficulty walking, Decreased compound muscle action potential amplitude, Axonal d... OMIM:602433
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertonia, Photosensitive myoclonic seizure, Tremor, Gait disturbance, Cerebral cortical atrophy... ORPHA:1192
Multiple System Atrophy 1, Susceptibility To
Bradykinesia, Babinski sign, Orthostatic hypotension, Tremor, Abnormal autonomic nervous system p... OMIM:146500
Tay-Sachs Disease
Fasciculations, Incoordination, Decerebrate rigidity, Cerebellar atrophy, Myoclonus, Clumsiness, ... ORPHA:845
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Difficulty walking, Spastic dysarthria, Progressive cerebellar ataxia, Spinocerebe... ORPHA:95433
Spinocerebellar Ataxia Type 42
Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Resting tremor, Cerebellar v... ORPHA:458803
Adrenoleukodystrophy
Limb ataxia, Impaired vibration sensation at ankles, Incoordination, Truncal ataxia, Seizure, Par... OMIM:300100
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Primary Dystonia, Dyt2 Type
Difficulty walking, Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involunt... ORPHA:99657
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Hypertonia, Inability to walk, Seizure, Tremor, Ataxia, Cerebellar hypoplasia OMIM:619556
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Nocturnal seizures, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Bi... OMIM:619725
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Seizure, Tremor, Rigidity, Dystonia, Ataxia, Parkinson... OMIM:261640
Parkinson Disease 14, Autosomal Recessive
Frontotemporal cerebral atrophy, Pill-rolling tremor, Global brain atrophy, Eyelid myoclonus, Bra... OMIM:612953
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal seventh cranial physiology, Limb fasciculations, Distal sensory impairment, Inability to... ORPHA:90117
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Inferior cerebellar vermis hypoplasia, Limb hypertonia, Fasciculations, Brain atrophy, Tremor, Ce... OMIM:620327
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Limb ataxia, Pontocerebellar atrophy, Impaired proprioception, Oculomotor apraxia, Chorea, Tremor... OMIM:606002
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Cerebral atrophy, Babinski sign, Tip-toe gait, Tremor, Abnormal optic nerve morphology, Gait dist... ORPHA:83629
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
X-Linked Dystonia-Parkinsonism
Bradykinesia, Difficulty walking, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with fav... ORPHA:53351
Jaberi-Elahi Syndrome
Optic atrophy, Inability to walk, Appendicular spasticity, Broad-based gait, Dandy-Walker malform... OMIM:617988
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased distal sensory nerve action potential, Decreased sensory nerve conduction velocity, Dec... ORPHA:206594
Congenital Disorder Of Glycosylation, Type Ie
Optic atrophy, Pontocerebellar atrophy, Seizure, Tremor, Retinopathy, Ataxia, Abnormal macular mo... OMIM:608799
Combined Oxidative Phosphorylation Deficiency 54
Hypertonia, Seizure, Tremor, Generalized-onset seizure, Hemiparesis, Impaired vibratory sensation... OMIM:619737
Coenzyme Q10 Deficiency, Primary, 1
Right hemiplegia, Seizure, Tremor, Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Loss of ... OMIM:607426
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Multiple System Atrophy
Bradykinesia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Abnormal autonomic n... ORPHA:102
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity OMIM:618815
Epilepsy, Familial Adult Myoclonic, 2
Enhancement of the C-reflex, Tremor, Blepharospasm, Bilateral tonic-clonic seizure, Ataxia, Giant... OMIM:607876
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacities, Central op... ORPHA:98957
Neuroferritinopathy
Bradykinesia, Babinski sign, Caudate atrophy, Difficulty walking, Writer's cramp, Leg dystonia, R... ORPHA:157846
Oculopharyngodistal Myopathy 3
Tremor, Ataxia, Pigmentary retinopathy OMIM:619473
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata OMIM:609141
Atopic Keratoconjunctivitis
Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ... ORPHA:163934
Basal Ganglia Disease, Biotin-Thiamine Responsive
Babinski sign, Hypertonia, Truncal titubation, Inability to walk, Chorea, Seizure, Facial palsy, ... OMIM:607483
Sialidosis Type 2
Seizure, Abnormal macular morphology, Tremor, Ataxia ORPHA:87876
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Optic atrophy, Cerebral atrophy, Babinski sign, Resting tremor, Atrophy/Degeneration affecting th... ORPHA:314404
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Optic atrophy, Cerebral atrophy, Seizure, Gait disturbance, Gait ataxia, Clonus, Dystonia, Ataxia... OMIM:616878
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Brain atrophy, Seizure, Spasticity, Tremor OMIM:618718
Leber Optic Atrophy
Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Dystonia, Ataxia, Le... OMIM:535000
Ataxia With Vitamin E Deficiency
Impaired proprioception, Progressive cerebellar ataxia, Positive Romberg sign, Dysdiadochokinesis... OMIM:277460
Norrie Disease
Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar... OMIM:310600
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebral atrophy, Difficulty walking, Limb hypertonia, Cerebellar vermis hypoplasia, Seizure, Tre... ORPHA:572798
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Babinski sign, Gait imbalance, Oculomotor apraxia, Cerebellar vermis atrophy, Head tremor, Dyston... ORPHA:64753
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Oculogyric crisis, Limb hypertonia, Seizure, Tremor, Cerebral palsy, Rigidity, Dyst... ORPHA:70594
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Shuffling gait, ... ORPHA:352649
Congenital Primary Aphakia
Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, C... ORPHA:83461
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Oculomotor apraxia, Falls, Tremor by anatomical site, Extrapyramidal muscular rigid... ORPHA:99750
Autosomal Dominant Spastic Paraplegia Type 9A
Spastic gait, Babinski sign, Spastic dysarthria, Abnormality of pain sensation, Falls, Impaired v... ORPHA:447753
Spastic Paraplegia 9A, Autosomal Dominant
Spastic gait, Hoffmann sign, Babinski sign, Lower limb spasticity, Abnormal upper motor neuron mo... OMIM:601162
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Seizure, Tremor, Shuffling ga... OMIM:300055
Syngap1-Related Developmental And Epileptic Encephalopathy
Abnormality of pain sensation, Myoclonic absence seizure, Tremor, Generalized-onset seizure, Gait... ORPHA:544254
Parkinson Disease 17
Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Spinocerebellar Ataxia 27A
Limb ataxia, Abnormal vestibulo-ocular reflex, Cerebellar atrophy, Gait ataxia, Postural tremor, ... OMIM:193003
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Seizure, Tremor, Episodic ataxia, Dystonia, Myoclonus, Choreoathetosis OMIM:312170
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Tetraplegia, Tremor, Spasticity, Impaired distal vibration sensation, Gait disturb... OMIM:616586
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Falls, Tremor, Parkinsonism with favorable response to dopaminergic medication, Rig... ORPHA:240085
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Hyperkinetic movements, Seizure, Tremor, Gait disturbance, Bilateral tonic-clonic seizure, Cerebe... ORPHA:457240
Intellectual Developmental Disorder, X-Linked 12
Hyperkinetic movements, Cerebellar vermis hypoplasia, Spasticity, Tremor, Seizure, Gait disturban... OMIM:300957
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cerebral atrophy, Generalized dystonia, Chorea, Seizure, Infantile spasms, Gait ataxia, Dystonia,... OMIM:618321
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... OMIM:607671
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur... ORPHA:420485
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Global brain atrophy, Torticollis, Brain atrophy, Seizure, Tremor, Cerebellar edema, Rigidity, At... OMIM:617186
Saccharopinuria
Distal sensory impairment, Seizure, Tremor, Gait ataxia, Spastic diplegia ORPHA:3124
Myopathy, Mitochondrial, And Ataxia
Limb ataxia, Difficulty walking, Distal sensory impairment, Inability to walk, Truncal ataxia, Dy... OMIM:617675
Amyloidosis, Hereditary, Transthyretin-Related
Limb ataxia, Paraplegia, Truncal ataxia, Spasticity, Tremor, Positive Romberg sign, Abnormal auto... OMIM:105210
Glutaryl-Coa Dehydrogenase Deficiency
Chorea, Seizure, Tremor, Pallidal degeneration, Athetosis, Limb dystonia, Retinal hemorrhage, Poo... ORPHA:25
Wolfram Syndrome 1
Optic atrophy, Cerebral atrophy, Seizure, Tremor, Ataxia, Pigmentary retinopathy OMIM:222300
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Astigmatism, Myopic astigmatism, Microcornea, Corneal opacity, Cataract OMIM:152950
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Fasciculations, Cerebellar atrophy, Abnormal motor nerve conduction velocity, Impaired vibratory ... ORPHA:466768
Cerebrooculofacioskeletal Syndrome 1
Brain atrophy, Seizure, Cerebellar atrophy, Diffuse cerebral atrophy, Cerebellar hypoplasia, Neur... OMIM:214150
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Leukocoria... OMIM:221900
Sialidosis Type 1
Decreased nerve conduction velocity, Seizure, Tremor, Gait disturbance, Retinopathy, Ataxia, Cher... ORPHA:812
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Broad-based gait, Resting tremor, Seizure, Tremor, Shuffling gait, Parkins... ORPHA:3077
Dermochondrocorneal Dystrophy
Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract OMIM:221800
Cystathioninuria
Seizure, Tremor