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 5.92×10-05

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

11 Images

Eye Morphology

VIP of right fundus

19 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Eye Morphology

VIP of right eye

19 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Eye Morphology

VIP of left eye

19 Images

Eye Morphology

VIP of left fundus

19 Images

X-ray

XRay Images Forepaw

11 Images

Electrocardiogram (ECG)

Waveform Image

1 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
Broad-based gait, Inability to walk, Vocal cord paralysis, Axonal degeneration 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 opacity, Corneal dystrophy OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Optic Atrophy 2
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Ceroid Lipofuscinosis, Neuronal, 7
Ataxia, Cerebral atrophy, Generalized myoclonic seizure, Retinopathy, Neurodegeneration, Pigmenta... OMIM:610951
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Retinal degeneration, Limb ataxia, Babinski sign, Optic atrophy, Gait ataxia, Spasticity,... OMIM:614322
Ceroid Lipofuscinosis, Neuronal, 11
Ataxia, Generalized myoclonic seizure, Retinal dystrophy, Optic atrophy, Cerebellar atrophy, Seizure OMIM:614706
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Spinocerebellar Ataxia 43
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait... OMIM:617018
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia OMIM:615889
Olivopontocerebellar Atrophy-Deafness Syndrome
Hypertonia, Ataxia, Cerebral cortical atrophy, Olivopontocerebellar atrophy, Optic atrophy, Seizu... ORPHA:2732
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebral atrophy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:611726
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Epilepsy, Progressive Myoclonic 7
Ataxia, Myoclonus, Tremor, Cerebellar atrophy, Seizure OMIM:616187
Ceroid Lipofuscinosis, Neuronal, 9
Ataxia, Loss of ambulation, Cerebral atrophy, Rod-cone dystrophy, Rigidity, Optic atrophy, Seizure OMIM:609055
Spinocerebellar Ataxia 37
Ataxia, Frequent falls, Tremor, Unsteady gait, Cerebellar atrophy OMIM:615945
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Abnormal cerebellum morphology, Ataxia, Myoclonus, Babinski sign, Diffuse cerebral atrophy, Tremo... OMIM:615362
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Cerebellar atrophy ORPHA:217012
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Cerebellar atrophy ORPHA:423296
Camos Syndrome
Ataxia, Brain atrophy, Aplasia/Hypoplasia of the cerebellum, Progressive extrapyramidal movement ... ORPHA:83472
Neuroectodermal Melanolysosomal Disease
Hypertonia, Ataxia, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Abnormal cerebellar... ORPHA:33445
Spinocerebellar Ataxia, Autosomal Recessive 29
Ataxia, Cerebellar vermis atrophy, Inability to walk, Retinal pigment epithelial mottling, Corpus... OMIM:619389
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Clumsiness, Retinal degeneration, Dysmetria, Myoclonus, Dysdiadochokinesis, Increased neu... OMIM:256731
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Cerebral atrophy, Abnormal autonomic nervous system physiology, Spastic paraparesis... OMIM:300894
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem... OMIM:617862
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Babinski sign, Frequent falls, Impaired distal vibration sensation, Spasticity, Cerebella... OMIM:619742
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia OMIM:213000
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Ataxia, Dysmetria, Ankle clonus, Dysdiadochokinesis, Babinski sign, Neurodegeneration, Atrophy/De... OMIM:612319
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... ORPHA:363710
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Cerebral atrophy, Retinal degeneration, Myoclonus, Increased extraneuronal autofluorescen... OMIM:204500
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Optic atrophy, Tremor, Progressive spasticity, Gait disturbance... OMIM:210000
Epilepsy, Progressive Myoclonic, 11
Ataxia, Intention tremor, Myoclonus, Rigidity, Giant somatosensory evoked potentials, Cerebellar ... OMIM:618876
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Hemiparesis, Tremor, Cerebellar atrophy, Seizure OMIM:141500
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Abnormal cerebellum morphology, Ataxia, Myoclonus, Parkinsonism, Myoclonic seizure, Bilateral ton... OMIM:162350
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Abnormal cerebellum morphology, Clumsiness, Dysmetria, Poor coordination, Ankle... OMIM:270500
Ceroid Lipofuscinosis, Neuronal, 8
Ataxia, Cerebral atrophy, Myoclonus, Increased neuronal autofluorescent lipopigment, Cerebellar a... OMIM:600143
Diaminopentanuria
Ataxia, Neurodegeneration, Spasticity, Seizure OMIM:222350
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Ataxia, Babinski sign, Distal sensory impairment, Somatic sensory dys... ORPHA:101010
Glycosylphosphatidylinositol Biosynthesis Defect 15
Atonic seizure, Inability to walk, Dysmetria, Myoclonic seizure, Cerebellar hypoplasia, Optic atr... OMIM:617810
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Status epilepticus, Inability to walk, Focal impaired awareness seizure, Generalized myoclonic se... ORPHA:330050
Morquio Syndrome C
Corneal opacity OMIM:252300
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Generalized myoclonic seizure, Dysmetria, Rigidity, Gait disturbance, Tremor, ... OMIM:618090
Spinocerebellar Ataxia 23
Neuronal loss in central nervous system, Dysmetria, Limb ataxia, Impaired vibration sensation in ... OMIM:610245
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Seizure, Dysto... OMIM:614561
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Cerebral atrophy, Corpus callosum atrophy, Truncal ataxia, Cerebellar atrophy OMIM:615268
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... ORPHA:98960
Spinocerebellar Ataxia 45
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:617769
Ataxia-Tapetoretinal Degeneration Syndrome
Ataxia, Rod-cone dystrophy, Aplasia/Hypoplasia of the cerebellum, Pigmentary retinopathy, Gait di... ORPHA:1178
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy OMIM:217800
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Cerebral cortical atrophy, Cerebral atrophy, Abnormality of extrapyramidal motor function... OMIM:617672
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Macular degeneration, Dysmetria, Babinski sign, Pigmentary retinop... OMIM:164500
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration, Seizure OMIM:613068
Dystonia 23
Torticollis, Cerebral cortical atrophy, Axial dystonia, Myoclonus, Head tremor, Gait disturbance,... OMIM:614860
Spinocerebellar Ataxia Type 12
Abnormal cerebellum morphology, Ataxia, Action tremor, Cerebral atrophy, Poor fine motor coordina... ORPHA:98762
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Cerebellar hypoplasia, Truncal ataxia, Tremor, Spastici... OMIM:615768
Cerebellar Ataxia And Albinism
Ataxia, Head tremor, Olivopontocerebellar atrophy OMIM:258300
Developmental And Epileptic Encephalopathy 38
Status epilepticus, Hypertonia, Ataxia, Retinal dystrophy, Dystonia OMIM:617020
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar hypoplasia, Ataxia, Retinal dysplasia OMIM:615771
Spastic Paraplegia 79, Autosomal Recessive
Ataxia, Cerebral atrophy, Dysmetria, Intention tremor, Ankle clonus, Babinski sign, Neurodegenera... OMIM:615491
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy OMIM:616291
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Axonal degeneration, Spastic paraparesis, Dysd... OMIM:615157
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Spinocerebellar Ataxia 41
Ataxia, Unsteady gait, Cerebellar atrophy OMIM:616410
Gordon Holmes Syndrome
Cerebellar atrophy, Cerebral atrophy, Chorioretinal dystrophy, Ataxia OMIM:212840
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Cerebellar atrophy, Unsteady gait OMIM:617917
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Cereb... OMIM:611302
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Cerebral atrophy, Babinski sign, Parkinsonism, Rigidity, Falls, Gait... OMIM:300423
Spinocerebellar Ataxia 35
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Dysmetria... ORPHA:284332
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Leukodystrophy, Hypomyelinating, 6
Ataxia, Rigidity, Optic atrophy, Tremor, Choreoathetosis, Spasticity, Cerebellar atrophy, Seizure... OMIM:612438
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Cerebellar atrophy, Progressive gait ataxia OMIM:607458
Neurodegeneration With Brain Iron Accumulation
Retinopathy, Rigidity, Chorea, Optic atrophy, Spasticity, Cerebellar atrophy, Dystonia, Abnormali... ORPHA:385
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy, Seizure OMIM:612016
Neuropathy, Ataxia, And Retinitis Pigmentosa
Ataxia, Rod-cone dystrophy, Retinal pigment epithelial mottling, Retinopathy, Seizure, Corticospi... OMIM:551500
Spinocerebellar Ataxia Type 14
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremo... ORPHA:98763
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Spastic Ataxia-Corneal Dystrophy Syndrome
Ataxia, Hemiplegia/hemiparesis, Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Gait disturb... ORPHA:2572
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Cerebral atrophy, Abnormal autonomic nervous system physiology, Spastic paraparesis... ORPHA:329284
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Aplasia/Hypoplasia of the cerebellum, Tre... ORPHA:79262
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Spinocerebellar Ataxia, Autosomal Recessive 22
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Cerebellar atrophy,... OMIM:616948
Spinocerebellar Ataxia, X-Linked 1
Intention tremor, Ataxia, Action tremor, Cerebellar atrophy OMIM:302500
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Spastic paraplegia, Diffuse cerebral atrophy, Tremor, Gait disturbance OMIM:300660
Spinocerebellar Ataxia 12
Action tremor, Cerebral cortical atrophy, Progressive cerebellar ataxia, Dysmetria, Axial dystoni... OMIM:604326
Encephalopathy, Progressive, With Or Without Lipodystrophy
Neuronal loss in central nervous system, Ataxia, Cerebral atrophy, Myoclonus, Abnormal pyramidal ... OMIM:615924
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... OMIM:136800
Spinocerebellar Ataxia, Autosomal Recessive 15
Ataxia, Gait ataxia, Unsteady gait, Cerebellar atrophy, Seizure OMIM:615705
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Dilated fourth... OMIM:614831
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Prolonged somatosensory evoked potentials, Myoclonus, Writer's c... OMIM:608105
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Difficulty... ORPHA:401820
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Cerebral cortical atrophy, Clumsiness, Cerebral atrophy, Brain atrophy, Dysmetria, Poor f... ORPHA:79263
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Cerebellar hypopla... ORPHA:314978
Galactosialidosis
Corneal opacity ORPHA:351
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... OMIM:607346
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy OMIM:608470
Alpha-Methylacyl-Coa Racemase Deficiency
Status epilepticus, Ataxia, Rod-cone dystrophy, Intention tremor, Pigmentary retinopathy, Hemipar... OMIM:614307
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Dysmetria, Myoclonus, Tremor, Cere... OMIM:619028
Intellectual Developmental Disorder, Autosomal Recessive 6
Myoclonus, Tremor, Involuntary movements, Seizure, Dystonia OMIM:611092
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Fascic... OMIM:613728
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Pontocerebellar atrophy, Dysd... ORPHA:423275
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Clumsiness, Atoni... ORPHA:2590
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Seizure, Atrophy of the dentate nucleus... OMIM:125370
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Ataxia, Abnormality of retinal pigmentation, Cerebellar hypoplasia ORPHA:2246
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor, Bilateral tonic-clonic seizure, Seizure, Enhancement of the C-reflex OMIM:615127
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Atrophy/Degeneration affecting the brai... OMIM:616230
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Status epilepticus, Dysmetria, Cerebellar hypoplasia, Optic atrophy, Tremor, Difficulty walking, ... ORPHA:529665
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Pontocerebellar atrophy, Dysd... OMIM:616053
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Seizure, Foca... OMIM:615400
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized myoclonic seizure, Degeneration of anterior horn cells, Facial palsy, Myoclonus, Fasc... OMIM:159950
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microcornea ORPHA:2432
Spinocerebellar Ataxia, Autosomal Recessive 18
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dysdiadochokinesis, Babinski sign, Truncal ataxia, ... OMIM:616204
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Cerebral atrophy, Ankle clonus, Babinsk... ORPHA:521406
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Distal sensory impairment, Tremor, Gait ataxia, Cerebellar atrophy, Steppage gait OMIM:618387
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Ataxia, Optic atrophy, Spasticity, Cerebellar atrophy, Spastic tetraplegia, Seizure OMIM:617207
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait, Seizure OMIM:616921
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Bilateral tonic-clonic seizure, Dyst... OMIM:618425
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Retinopathy, Abnormal pyramidal sign, Parkinsonism, Rigidity,... ORPHA:216873
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Cerebral atrophy, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasti... OMIM:617435
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... OMIM:180550
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizure, Tremo... OMIM:617831
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysmetria, Dysdiadochokinesis, Cerebellar hypoplasia, Truncal ataxia, Tremor, Aplasia of the infe... OMIM:610185
Cln5 Disease
Ataxia, Atrophy/Degeneration affecting the central nervous system, Cerebral cortical atrophy, Poo... ORPHA:228360
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus, Seizure OMIM:616366
Spinocerebellar Ataxia, Autosomal Recessive 6
Ataxia, Clumsiness, Dysmetria, Intention tremor, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:608029
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... ORPHA:98963
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Retinal telangiectasia, Gait ataxia, Neurodegeneration, Cerebellar atrophy ORPHA:438134
Epilepsy, Progressive Myoclonic, 1B
Atonic seizure, Generalized myoclonic seizure, Dysmetria, Babinski sign, Tremor OMIM:612437
Spinocerebellar Ataxia 29
Broad-based gait, Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Truncal titubation, Foca... OMIM:117360
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Cerebellar vermis atrophy, Poor fine motor coordination, Intention tremor, Freq... ORPHA:512260
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Bilateral tonic-clon... OMIM:618093
Boucher-Neuhauser Syndrome
Ataxia, Spinocerebellar atrophy, Intention tremor, Retinal dystrophy, Gait ataxia, Abnormal upper... OMIM:215470
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive cerebellar ataxia, Babinski sign, Truncal ataxia, Optic atrophy, Tremor, Difficulty w... ORPHA:137898
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Generalized myoclonic seizure, Rigidity, Tremor, Bilateral tonic-clonic sei... OMIM:617836
Generalized Epilepsy With Febrile Seizures-Plus
Status epilepticus, Ataxia, Atonic seizure, Bradykinesia, Poor fine motor coordination, Focal imp... ORPHA:36387
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Optic atrophy, Gait disturbance, Involuntary mo... OMIM:617282
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Ataxia, Clumsiness, Limb ataxia, Dysmetria, Intention tremor, Cerebellar hypopl... OMIM:616127
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Craniofacial dystonia, Gait ataxia, Cere... ORPHA:71517
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells, Fasciculations, ... ORPHA:65684
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Peroxisome Biogenesis Disorder 5B
Ataxia, Rod-cone dystrophy, Dysmetria, Retinal dystrophy, Tremor, Cerebellar atrophy, Unsteady ga... OMIM:614867
Spastic Paraplegia 6, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Babinski sign, Degeneration of the lateral corti... OMIM:600363
Ceroid Lipofuscinosis, Neuronal, 10
Status epilepticus, Neuronal loss in central nervous system, Ataxia, Cerebral atrophy, Rod-cone d... OMIM:610127
Dravet Syndrome
Status epilepticus, Ataxia, Atonic seizure, Focal hemiclonic seizure, Cerebral atrophy, Focal imp... OMIM:607208
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Abnormal pyramidal sign, Optic atrophy, Tremor, Unsteady gait, Seizure, Incoordination OMIM:614947
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Giant somatosensory evoked potentials, Tremor, Bilateral tonic-clo... OMIM:601068
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Giant somatosensory evoked potentials, Tremor, Difficulty walking, Bilateral tonic-clo... OMIM:613608
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... OMIM:617145
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Cerebral cortical atrophy, Optic atrophy, Tremor, Spasticity, Seizure OMIM:300983
Developmental And Epileptic Encephalopathy 97
Inability to walk, Epileptic spasm, Stereotypical hand wringing, Tremor, Seizure OMIM:619561
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Limb ataxia, Dysmetria, Cerebellar hypoplasia, Tremor, Gait ataxia, Spasticity, Unsteady ... OMIM:213200
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Atonic seizure, Absence seizure with eyelid myoclonia, Focal impaired a... OMIM:618587
Progressive Myoclonic Epilepsy Type 3
Progressive cerebellar ataxia, Cerebral atrophy, Myoclonus, Limb myoclonus, Optic atrophy, Febril... ORPHA:263516
Spastic Paraplegia 78, Autosomal Recessive
Ataxia, Cerebral cortical atrophy, Bradykinesia, Resting tremor, Impaired vibratory sensation, Ba... OMIM:617225
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Distal sensory impairment, Frequent falls, Tremor, Gait ataxia, Spasticity, Cerebellar at... OMIM:616719
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Macular degeneration, Limb ataxia, Dysmetria, Intention tremor, An... ORPHA:284289
Multiple Mitochondrial Dysfunctions Syndrome 6
Ataxia, Dysmetria, Optic disc pallor, Spasticity, Cerebellar atrophy, Seizure, Dystonia OMIM:617954
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Cerebral cortical atrophy, Loss of ambulation, Dysmetria, Babinski sign, Optic atrophy, T... OMIM:607694
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy, Se... ORPHA:139485
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Bradykinesia, Limb ataxia, Atrophy/Degeneration affecting the brainstem, Limb myoclo... OMIM:619862
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Neurodegeneration With Brain Iron Accumulation 2A
Neuronal loss in central nervous system, Ataxia, Cerebral atrophy, Decreased nerve conduction vel... OMIM:256600
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Spinocerebellar Ataxia Type 17
Torticollis, Neuronal loss in central nervous system, Ataxia, Blepharospasm, Cerebellar Purkinje ... ORPHA:98759
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... ORPHA:293603
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Abnormal cerebellum morphology, Abnormal pons morphology, Ataxia, Progressive cerebellar ataxia, ... ORPHA:98
Spinocerebellar Ataxia 17
Broad-based gait, Neuronal loss in central nervous system, Ataxia, Bradykinesia, Limb ataxia, Dys... OMIM:607136
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired vib... ORPHA:284324
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Neurodegeneration With Brain Iron Accumulation 6
Oromandibular dystonia, Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Neurodegenerat... OMIM:615643
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Cerebral atrophy, Dysmetria, Tip-toe gait, Intention tremor, Babi... ORPHA:397946
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Epilepsy, Progressive Myoclonic, 6
Ataxia, Atonic seizure, Loss of ambulation, Myoclonus, Tremor, Myoclonic status epilepticus, Bila... OMIM:614018
Neurodegeneration With Brain Iron Accumulation 2B
Hypertonia, Bradykinesia, Cerebral atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Babi... OMIM:610217
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spinocerebellar Ataxia, Autosomal Recessive 7
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Cerebe... OMIM:609270
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinsk... ORPHA:251282
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Spinocerebellar Ataxia 2
Ataxia, Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Spasticity, Unsteady gait, Pos... OMIM:183090
Infantile Cerebellar-Retinal Degeneration
Ataxia, Cerebral cortical atrophy, Retinal dystrophy, Athetosis, Optic atrophy, Bilateral tonic-c... OMIM:614559
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Ataxia, Cerebral atrophy, Dysmetria, Corpus callosum atrophy, Choreoathetosis, Spasticity, Cerebe... OMIM:618088
Neurodegeneration With Brain Iron Accumulation 4
Oromandibular dystonia, Ataxia, Loss of ambulation, Babinski sign, Parkinsonism, Neurodegeneratio... OMIM:614298
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Cerebral atrophy, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:600116
Glutathione Synthetase Deficiency
Ataxia, Intention tremor, Pigmentary retinopathy, Seizure, Spastic tetraparesis OMIM:266130
Macular Corneal Dystrophy
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... ORPHA:98969
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Motor stereotypy, Broad-based gait, Optic atrophy, Tremor, Seizure, Spastic tetraparesis OMIM:619470
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Brain atrophy, Resting tremor, Myoclonus, Abnormal pyr... ORPHA:391411
4H Leukodystrophy
Ataxia, Dysmetria, Dysdiadochokinesis, Optic atrophy, Tremor, Cerebellar atrophy, Progressive gai... ORPHA:289494
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... ORPHA:98962
Hsd10 Disease
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Optic atrophy, Tremor, Gait disturbance, Choreo... ORPHA:391417
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Ataxia, Impaired vibration sensation at ankles, ... OMIM:616795
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Cerebral atrophy, Retinopathy, Cerebellar hypoplasia, Optic atrophy, Tremor, Choreoatheto... OMIM:619422
Bilateral Frontoparietal Polymicrogyria
Typical absence seizure, Gait imbalance, Abnormal cerebellum morphology, Bilateral tonic-clonic s... ORPHA:101070
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Retinal dysplasia OMIM:615041
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Diffuse cerebellar atrophy, Abnormal autonomic nervous system physiology, Axona... ORPHA:478029
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Cyanide-Induced Parkinsonism-Dystonia
Cerebral cortical atrophy, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling... ORPHA:306692
X-Linked Intellectual Disability, Hedera Type
Action tremor, Atonic seizure, Inability to walk, Extrapyramidal muscular rigidity, Dysmetria, Ba... ORPHA:93952
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Dysmetria, Axonal degeneration, Hand tremor, Tip-toe gait, Decreased motor nerve con... OMIM:302800
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Ataxia, Dilated fourth ventricle, Retinal dystrophy, Infe... ORPHA:370022
Glutathionuria
Tremor OMIM:231950
Paroxysmal Exertion-Induced Dyskinesia
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Generalized non-motor (absence) seizure, ... ORPHA:98811
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dilated fourth ventricle, Diffuse cerebral atrophy,... ORPHA:1170
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Action tremor, Intention tremor, Myoclonus, Gait ataxia, Generalized-onset seizure, Cerebellar at... OMIM:254900
Leukodystrophy, Hypomyelinating, 11
Ataxia, Myoclonus, Tremor, Spasticity, Cerebellar atrophy OMIM:616494
Spinocerebellar Ataxia Type 27
Akinesia, Hand tremor, Limb ataxia, Truncal ataxia, Gait disturbance, Tremor, Difficulty walking,... ORPHA:98764
Spinocerebellar Ataxia Type 2
Cerebral cortical atrophy, Progressive cerebellar ataxia, Cerebellar Purkinje layer atrophy, Park... ORPHA:98756
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Cerebral atrophy, Dysmetria, Tremor, Titubation, Cerebellar atrophy, Unsteady gait OMIM:619405
Spinocerebellar Ataxia 15
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Postural tremor OMIM:606658
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Retinal degeneration, Macular degeneration, Laryngeal... ORPHA:99
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Corneal Dystrophy, Fuchs Endothelial, 6
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... OMIM:613270
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Winchester Syndrome
Corneal opacity OMIM:277950
Spinocerebellar Ataxia, Autosomal Recessive 26
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... OMIM:617633
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Retinal thinning, Retinal dystrophy, Cerebellar vermis hypoplasia, Reti... OMIM:615960
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Spinocerebellar Ataxia Type 10
Status epilepticus, Focal motor seizure, Gait imbalance, Progressive cerebellar ataxia, Focal imp... ORPHA:98761
Limbal Stem Cell Deficiency
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Cornea... ORPHA:171673
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Cerebral atrophy, Cherry red spot of the macula, Abnormal pyramidal... ORPHA:309246
Fuchs Endothelial Corneal Dystrophy
Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... ORPHA:98974
Spinocerebellar Ataxia Type 1
Loss of Purkinje cells in the cerebellar vermis, Gait imbalance, Impaired proprioception, Progres... ORPHA:98755
Dentatorubral Pallidoluysian Atrophy
Oromandibular dystonia, Optic neuropathy, Ataxia, Action tremor, Progressive cerebellar ataxia, D... ORPHA:101
Spastic Ataxia 5, Autosomal Recessive
Ataxia, Spastic ataxia, Dysmetria, Spastic paraparesis, Generalized myoclonic seizure, Myoclonus,... OMIM:614487
Developmental And Epileptic Encephalopathy 56
Status epilepticus, Focal motor seizure, Ataxia, Action tremor, Broad-based gait, Poor coordinati... OMIM:617665
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Blepharospasm, Laryngeal dystonia, Bradykinesia, Babinski sign, Parkinsonism, Neurodegene... OMIM:606159
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Null Syndrome
Abnormal cerebellum morphology, Ataxia, Inability to walk, Decreased nerve conduction velocity, P... ORPHA:280234
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Optic neuritis, Parkinsonism with favorable response to dopaminergic medication, Cerebral... ORPHA:254886
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Hypertonia, Ataxia, Cerebellar gliosis, Dysmetria, Intention tremor, Myoclonus, Babinski sign, Di... OMIM:616505
Dravet Syndrome
Focal impaired awareness seizure, Cogwheel rigidity, Photosensitive myoclonic seizure, Photosensi... ORPHA:33069
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Ataxia, Limb ataxia, Truncal ataxia, Gait disturbance, Cerebellar atrophy, Unsteady gait ORPHA:284271
Tremor-Ataxia-Central Hypomyelination Syndrome
Ataxia, Cerebral cortical atrophy, Clumsiness, Dysmetria, Impaired vibration sensation in the low... ORPHA:447896
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Limb ataxia, Axonal degeneration, Truncal ataxia, Chorea, Distal sens... OMIM:208920
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Ataxia, Optic atrophy, Tremor, Gait disturbance, Impaired pain sensation, Abnormal n... ORPHA:99014
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocit... OMIM:609260
Spinocerebellar Ataxia Type 29
Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, ... ORPHA:208513
Leukodystrophy, Hypomyelinating, 2
Ataxia, Cerebral atrophy, Spastic paraparesis, Focal impaired awareness seizure, Intention tremor... OMIM:608804
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Ataxia, Decreased nerve conduction velocity, Rod-cone dystrophy, Dysmetria, Intention tremor, Bab... OMIM:612674
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor, Cerebell... OMIM:619738
Non-Specific Early-Onset Epileptic Encephalopathy
Status epilepticus, Ataxia, Brain atrophy, Cerebral atrophy, Retinal degeneration, Limb hypertoni... ORPHA:442835
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:616421
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypertonia, Ataxia, Cerebral atrophy, Rod-cone dystrophy, Dysmetria, Limb hypertonia, Athetosis, ... OMIM:617710
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Rigidity, Cerebellar hypoplasia, Neurodegeneration, Optic atrophy, Spasticity, Spastic te... OMIM:618476
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... OMIM:604229
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, S... ORPHA:352403
Hsd10 Disease, Infantile Type
Loss of ambulation, Retinal degeneration, Rod-cone dystrophy, Cerebral atrophy, Poor coordination... ORPHA:391428
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Abnormal autonomic nervous system physiology, Macular degeneration, Resting tre... ORPHA:247234
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Atonic seizure, Myoclonus, Rigidity, Progressive extrapyramidal ... OMIM:612736
Ataxia-Oculomotor Apraxia 4
Ataxia, Cerebellar atrophy, Oculomotor apraxia, Dystonia, Tetraplegia OMIM:616267
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Spinocerebellar Ataxia 13
Progressive cerebellar ataxia, Limb ataxia, Abnormal pyramidal sign, Optic atrophy, Limb dysmetri... OMIM:605259
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Hypertonia, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Brai... OMIM:619092
Spinocerebellar Ataxia 5
Dysmetria, Limb ataxia, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis, Gait ... OMIM:600224
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Subepithelial corneal opacities, Irregular astigmatism, Recurrent corneal erosi... ORPHA:293381
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Spinocerebellar Ataxia Type 21
Akinesia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia... ORPHA:98773
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... OMIM:617284
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Glut1 Deficiency Syndrome 2
Ataxia, Cerebral atrophy, Tremor, Choreoathetosis, Seizure, Dystonia OMIM:612126
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Neurotrophic Keratopathy
Corneal scarring, Corneal ulceration, Corneal perforation, Allodynia, Corneal stromal edema, Recu... ORPHA:137596
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Parkinsonism, Or... ORPHA:454887
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Krabbe Disease
Hypertonia, Decreased nerve conduction velocity, Decerebrate rigidity, Neurodegeneration, Optic a... OMIM:245200
Pelizaeus-Merzbacher Disease
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Inability to walk, Intention tremor, Abnorma... OMIM:312080
Spinocerebellar ataxia 27
Ataxia, Limb ataxia, Impaired vibratory sensation, Head tremor, Truncal ataxia, Gait ataxia, Cere... OMIM:609307
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Orthostatic hypotension, Gait disturbance, Tremor OMIM:616710
Caribbean Parkinsonism
Cerebral cortical atrophy, Action tremor, Bradykinesia, Abnormal autonomic nervous system physiol... ORPHA:97355
Spinocerebellar Ataxia 44
Ataxia, Dysmetria, Dysdiadochokinesis, Frequent falls, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:617691
Ataxia With Vitamin E Deficiency
Hypertonia, Ataxia, Abnormality of retinal pigmentation, Hemiplegia/hemiparesis, Dysmetria, Dysdi... ORPHA:96
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma ORPHA:1473
Combined Oxidative Phosphorylation Deficiency 24
Status epilepticus, Neuronal loss in central nervous system, Neurodegeneration, Optic atrophy, Sp... OMIM:616239
Spinocerebellar Ataxia Type 13
Torticollis, Clumsiness, Bradykinesia, Limb ataxia, Myoclonus, Optic atrophy, Optic disc pallor, ... ORPHA:98768
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Distal sensory impairment,... OMIM:604484
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Abnormal pyra... OMIM:614381
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Gait disturbance, Tremor, Impaired pain sensation, Abnormal nerve conduction velocity ORPHA:101075
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:168100
Atypical Rett Syndrome
Loss of ambulation, Inability to walk, Generalized myoclonic seizure, Hand apraxia, Pill-rolling ... ORPHA:3095
Inherited Creutzfeldt-Jakob Disease
Senile plaques, Neuronal loss in central nervous system, Progressive extrapyramidal muscular rigi... ORPHA:282166
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Ataxia, Pontocerebellar atrophy, Abnormal pyramidal sign, Cerebellar hypoplasia, Incoordination, ... OMIM:618060
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus, Writer's cramp OMIM:159900
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Seizure, Dystonia OMIM:261630
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Retinal degeneration, Babinski sign, Optic atrophy, Tremor, Spasticity, Dystonia, Abnorma... OMIM:234200
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Seizure OMIM:618951
Spinocerebellar Ataxia 34
Ataxia, Cerebral cortical atrophy, Limb ataxia, Intention tremor, Dysdiadochokinesis, Abnormal py... OMIM:133190
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... OMIM:619279
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Gait disturbance, Tremor, Impaired distal vibration sensation,... ORPHA:276435
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Focal motor seizure, Akinesia, Clumsiness, Bradykinesia, Freezing of gait, Resting tremor, Rigidi... OMIM:619911
Riboflavin Transporter Deficiency
Ataxia, Cerebral cortical atrophy, Abnormal autonomic nervous system physiology, Abnormality of m... ORPHA:97229
Adult-Onset Cervical Dystonia, Dyt23 Type
Torticollis, Cerebral cortical atrophy, Axial dystonia, Myoclonus, Head tremor, Craniofacial dyst... ORPHA:420492
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hypertonia, Inability to walk, Bradykinesia, Cerebral atrophy, Myoclonus, Parkinsonism, Truncal a... OMIM:618877
Pyruvate Dehydrogenase E2 Deficiency
Arm dystonia, Hypertonia, Broad-based gait, Retinal degeneration, Babinski sign, Neurodegeneratio... ORPHA:79244
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Cerebellar atrophy, I... OMIM:608768
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Diffuse cerebral ... ORPHA:363654
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Rigidity, Parkinsonism, Tremor, Choreoathetosis, Seizure, Dystonia OMIM:261640
Hypermanganesemia With Dystonia 2
Oromandibular dystonia, Clumsiness, Bradykinesia, Cerebral atrophy, Opisthotonus, Lower limb hype... OMIM:617013
Severe Neurodegenerative Syndrome With Lipodystrophy
Status epilepticus, Neuronal loss in central nervous system, Ataxia, Cerebral atrophy, Myoclonus,... ORPHA:363400
Neuronal Intranuclear Inclusion Disease
Ataxia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, R... OMIM:603472
Migraine, Familial Hemiplegic, 2
Hemiplegia, Focal motor seizure, Dysmetria, Hemiparesis, Tremor, Gait ataxia, Bilateral tonic-clo... OMIM:602481
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Infantile spasms, Spasticity OMIM:278780
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Chorea, Progressive extrapy... ORPHA:401768
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Parkinsonism-Dystonia 2, Infantile-Onset
Ataxia, Abnormal autonomic nervous system physiology, Oculogyric crisis, Dysdiadochokinesis, Park... OMIM:618049
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Combined Oxidative Phosphorylation Deficiency 29
Optic neuropathy, Axonal degeneration, Retinopathy, Optic atrophy, Spasticity, Cerebellar atrophy... OMIM:616811
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Decreased nerve conduction velocity, Gait disturbance, Tremor, Impaired pain sensation ORPHA:101078
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Spastic Paraplegia 39, Autosomal Recessive
Ataxia, Babinski sign, Atrophy of the spinal cord, Gait disturbance, Progressive spastic parapleg... OMIM:612020
Brittle Cornea Syndrome 2
Flat cornea, Megalocornea, Keratoconus, Keratoglobus, Sclerocornea, Decreased corneal thickness OMIM:614170
Gm2-Gangliosidosis, Ab Variant
Hypertonia, Cerebral atrophy, Exaggerated startle response, Abnormal pyramidal sign, Neurodegener... OMIM:272750
Familial Infantile Myoclonic Epilepsy
Ataxia, Clumsiness, Blepharospasm, Bilateral tonic-clonic seizure with generalized onset, General... ORPHA:352582
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Rod-cone dystrophy, Axonal degeneration, Impaired vibration sensation... ORPHA:88628
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Cerebral atrophy OMIM:618637
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Ataxia, Impaired vibration sensation at ankles, Limb ataxia, Poor coordination,... ORPHA:98772
Myopathy With Extrapyramidal Signs
Status epilepticus, Ataxia, Clumsiness, Chorea, Optic atrophy, Tremor, Frequent falls, Choreoathe... OMIM:615673
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Progressive cerebellar ataxia, Dysmetria, Vestibular areflexia, Intention tremor, Dysdiadochokine... ORPHA:504476
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Ataxia, Upper motor neuron dysfunction, Clumsiness, Decreased nerve conduction veloci... ORPHA:206443
Spinocerebellar Ataxia Type 36
Loss of Purkinje cells in the cerebellar vermis, Ataxia, Limb ataxia, Dysmetria, Hand tremor, Int... ORPHA:276198
Developmental And Epileptic Encephalopathy 4
Status epilepticus, Cerebral atrophy, Generalized myoclonic seizure, Generalized tonic seizure, E... OMIM:612164
Developmental And Epileptic Encephalopathy 42
Hypertonia, Ataxia, Athetosis, Tremor, Seizure OMIM:617106
Fragile X Tremor/Ataxia Syndrome
Action tremor, Bradykinesia, Poor fine motor coordination, Dysmetria, Resting tremor, Intention t... OMIM:300623
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Hypertonia, Oromandibular dystonia, Inability to walk, Blepharospasm, Babinski sign,... OMIM:128100
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Hypertonia, Abnormal cerebellum morphology, Truncal titubation, Dysmetria, Tremor, Gait ataxia, C... OMIM:618056
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Spasticity, Seizure, Oculomotor apraxia, Dystonia OMIM:612716
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Aceruloplasminemia
Torticollis, Ataxia, Abnormality of retinal pigmentation, Blepharospasm, Retinal degeneration, Ma... ORPHA:48818
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Brain atrophy, Cerebral cortical hemiatrophy, Parkinsonism, Hemiparesis, Tremor, Di... ORPHA:306669
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Cerebral Visual Impairment
Clumsiness, Central nervous system degeneration, Increased cup-to-disc ratio, Optic nerve hypopla... ORPHA:447788
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Ataxia, Decreased nerve conduction velocity, Tremor ORPHA:1368
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Orthostatic hypotension, Babinski sign, Aplasia/Hypoplasia of the cerebellum, Autonomic b... ORPHA:99027
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Spastic paraparesis, Decreased motor nerve conduction velocity, Gait disturban... ORPHA:101077
Mohr-Tranebjaerg Syndrome
Oromandibular dystonia, Absent brainstem auditory responses, Inability to walk, Ankle clonus, Bab... ORPHA:52368
Spinocerebellar Ataxia Type 18
Dysmetria, Head tremor, Titubation, Somatic sensory dysfunction, Gait ataxia, Cerebellar atrophy ORPHA:98771
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Babinski... OMIM:602433
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude, Inabili... ORPHA:90117
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor, Gait ataxia... OMIM:137440
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, Inability to walk, Brain atrophy, Tremor, Spasticity, Seizure OMIM:618718
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... OMIM:606693
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Spinocerebellar Ataxia 21
Ataxia, Akinesia, Progressive cerebellar ataxia, Limb ataxia, Intention tremor, Abnormality of ex... OMIM:607454
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Nocturnal se... OMIM:619725
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Babinski sign, Spastic paraplegia, Tremor, Febrile seizure (within the age rang... ORPHA:477673
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertonia, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Tr... ORPHA:1192
Herpes Simplex Virus Stromal Keratitis
Keratitis, Corneal perforation, Corneal stromal edema, Descemet Membrane Folds, Herpetiform corne... ORPHA:137599
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Spinocerebellar Ataxia Type 42
Abnormal cerebellum morphology, Cerebellar vermis atrophy, Impaired vibration sensation at ankles... ORPHA:458803
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased nerve conduction velocity, Decreased sensory nerve conduction v... ORPHA:206594
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Progressive cerebellar ataxia, Spinocerebellar atrophy, Impaired vibration sensation in the lower... ORPHA:95433
Atopic Keratoconjunctivitis
Keratitis, Corneal opacity, Corneal neovascularization, Chemosis, Keratoconjunctivitis sicca ORPHA:163934
Multiple System Atrophy 1, Susceptibility To
Ataxia, Bradykinesia, Abnormal autonomic nervous system physiology, Orthostatic hypotension, Babi... OMIM:146500
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... ORPHA:99657
Adrenoleukodystrophy
Paraparesis, Impaired vibration sensation at ankles, Limb ataxia, Truncal ataxia, Neurodegenerati... OMIM:300100
Dystonia 12
Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait, Dystonia OMIM:128235
Urocanic Aciduria
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia ORPHA:210128
Dopa-Responsive Dystonia
Leg dystonia, Inability to walk, Poor coordination, Generalized tonic seizure, Abnormality of ext... ORPHA:255
Tay-Sachs Disease
Typical absence seizure, Inability to walk, Laryngeal dystonia, Focal impaired awareness seizure,... ORPHA:845
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Hypertonia, Ataxia, Inability to walk, Cerebellar hypoplasia, Tremor, Seizure OMIM:619556
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ambulation, Rigidity, Dystonia OMIM:615010
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma OMIM:252650
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
Parkinson Disease 14, Autosomal Recessive
Loss of ambulation, Axial dystonia, Clumsiness, Bradykinesia, Resting tremor, Hand tremor, Ankle ... OMIM:612953
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Jaberi-Elahi Syndrome
Broad-based gait, Cerebellar vermis atrophy, Inability to walk, Dysmetria, Appendicular spasticit... OMIM:617988
Congenital Disorder Of Glycosylation, Type Ie
Ataxia, Abnormal macular morphology, Retinopathy, Pontocerebellar atrophy, Optic atrophy, Tremor,... OMIM:608799
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Limb ataxia, Decreased motor nerve conduction velocity, Pontocerebellar atrophy, Abnormal pyramid... OMIM:606002
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Recurrent hand flapping, Poor coordination, Gait disturbance, Tremor, Generalized-onset s... ORPHA:544254
Coenzyme Q10 Deficiency, Primary, 1
Status epilepticus, Ataxia, Loss of ambulation, Rod-cone dystrophy, Myoclonus, Right hemiplegia, ... OMIM:607426
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Cerebral atrophy, Tip-toe gait, Babinski sign, Spastic paraplegia, Tremor, Gait disturbance, Abno... ORPHA:83629
Combined Oxidative Phosphorylation Deficiency 54
Hypertonia, Hypoesthesia, Impaired vibratory sensation, Hemiparesis, Optic disc pallor, Tremor, G... OMIM:619737
Oculopharyngodistal Myopathy 3
Tremor, Ataxia, Pigmentary retinopathy OMIM:619473
Spinocerebellar Ataxia Type 8
Ataxia, Cerebellar vermis atrophy, Bradykinesia, Limb ataxia, Impaired vibratory sensation, Hypop... ORPHA:98760
X-Linked Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:53351
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Blepharospasm, Myoclonus, Giant somatosensory evoked potentials, Tremor, Bilateral tonic-... OMIM:607876
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Neuronal loss in central nervous system, Ataxia, Cerebral atrophy, Resting tremor, Babinski sign,... ORPHA:314404
3-Methylglutaconic Aciduria, Type Viii
Hypertonia, Cerebral atrophy, Tremor, Seizure, Dystonia OMIM:617248
Multiple System Atrophy
Axial dystonia, Progressive cerebellar ataxia, Autonomic erectile dysfunction, Abnormal autonomic... ORPHA:102
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Inability to walk, Opisthotonus, Babi... OMIM:607483
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Sialidosis Type 2
Abnormal macular morphology, Tremor, Ataxia, Seizure ORPHA:87876
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Sh... OMIM:300055
Neuroferritinopathy
Leg dystonia, Blepharospasm, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Chorea, A... ORPHA:157846
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Ataxia With Vitamin E Deficiency
Ataxia, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Abnormality of central somatosensor... OMIM:277460
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Hyperkinetic movements, Gait disturbance, Tremor, Bilateral tonic-clonic seizur... ORPHA:457240
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... OMIM:310600
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Cerebral atrophy, Poor coordination, Spastic diplegia, Neurodegeneration, Optic atrophy, ... OMIM:616878
Leber Optic Atrophy
Optic neuropathy, Ataxia, Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic ... OMIM:535000
Wars2-Related Combined Oxidative Phosphorylation Defect
Ataxia, Cerebral atrophy, Rod-cone dystrophy, Dysmetria, Multifocal seizures, Limb hypertonia, Di... ORPHA:572798
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Ataxia, Cataplexy, Optic atrophy, Spasticity, Cerebellar atrophy OMIM:604121
Autosomal Dominant Spastic Paraplegia Type 9A
Abnormal cerebellum morphology, Impaired vibration sensation in the lower limbs, Babinski sign, C... ORPHA:447753
Crigler-Najjar Syndrome Type 1
Tremor, Seizure ORPHA:79234
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Ataxia, Cerebellar vermis atrophy, Babinski sign, Abnormal pyramidal sign, Head t... ORPHA:64753
Ataxia-Telangiectasia-Like Disorder 2
Ataxia, Unsteady gait, Neurodegeneration, Cerebellar atrophy OMIM:615919
Parkinson Disease 17
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Seizure, Dystonia OMIM:233910
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Ataxia, Brain atrophy, Cerebellar edema, Rigidity, Myoclonic seizure, Tetraparesis, ... OMIM:617186
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Axial dystonia, Progressive cerebellar ataxia, Autonomic erectile dysfunction, ... ORPHA:227510
Erythrokeratodermia Variabilis
Corneal opacity, Cataract ORPHA:317
Atypical Progressive Supranuclear Palsy Syndrome
Freezing of gait, Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Tremor by anatom... ORPHA:99750
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dy... OMIM:105210
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Neurodegeneration, Paralysis, Spasticity, Motor neuron atrophy ORPHA:803
Wolfram Syndrome 1
Ataxia, Cerebral atrophy, Pigmentary retinopathy, Optic atrophy, Tremor, Seizure OMIM:222300
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity, Falls, T... ORPHA:240085
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Ataxia, Oculogyric crisis, Dysdiadochokinesis, Parkinsonism, Abnormality of coordinat... ORPHA:352649
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Limb hypertonia, Oculogyric crisis, Rigidity, Cerebral palsy, Tremor, Seizure, Dyst... ORPHA:70594
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Aplasia/Hypoplasia of the iris ORPHA:137902
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Inability to walk, Brain atrophy, Babinski sign, Tremor, Difficulty walking, Impaired tactile sen... ORPHA:466768
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Cataract OMIM:152950
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... OMIM:607671
Cerebrooculofacioskeletal Syndrome 1
Brain atrophy, Neurodegeneration, Cerebellar hypoplasia, Diffuse cerebral atrophy, Cerebellar atr... OMIM:214150
Sialidosis Type 1
Ataxia, Decreased nerve conduction velocity, Cherry red spot of the macula, Retinopathy, Myoclonu... ORPHA:812
Glutaryl-Coa Dehydrogenase Deficiency