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 6.62×10-05

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

Eye Morphology

VIP of left fundus

19 Images

X-ray

XRay Images Forepaw

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Eye Morphology

VIP of right eye

19 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Eye Morphology

VIP of left eye

19 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
Vocal cord paralysis, Axonal degeneration, Inability to walk, Broad-based gait 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
Band keratopathy, Corneal opacity, 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
Megalocornea
Megalocornea OMIM:249300
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
Babinski sign, Tremor, Optic atrophy, Dysdiadochokinesis OMIM:311050
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Cerebellar atrophy, Cerebral atrophy, Generalized myoclonic seizure, Ataxia, Pigment... 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
Cerebellar atrophy, Retinal degeneration, Ataxia, Gait ataxia, Spasticity, Limb ataxia, Babinski ... OMIM:614322
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Generalized myoclonic seizure, Ataxia, Retinal dystrophy, Seizure, Optic atrophy OMIM:614706
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Olivopontocerebellar atrophy, Ataxia, Cerebral cortical atrophy, Seizure,... ORPHA:2732
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Limb ataxia,... OMIM:617018
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebral atrophy, Cerebellar atrophy, Bilateral tonic-clonic seizure with focal onset, Generalize... OMIM:611726
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Dystonia, Apraxia, Ataxia, Spasticity, Neurodegeneration, Tremor OMIM:615889
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Pigmentary retinopathy, Spasticity, Seizure, Status epilepticus, Tremor OMIM:614307
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Seizure, Myoclonus, Tremor OMIM:616187
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, U... ORPHA:98769
Ceroid Lipofuscinosis, Neuronal, 9
Cerebral atrophy, Ataxia, Rod-cone dystrophy, Rigidity, Loss of ambulation, Seizure, Optic atrophy OMIM:609055
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Ataxia, Abnormal cerebellum morphology, Diffuse cerebral atrophy, Abnormality... OMIM:615362
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Generalized dystonia, Cerebellar vermis atrophy, Inability to walk, Lower lim... OMIM:619389
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Ataxia, Unsteady gait, Tremor OMIM:615945
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Gait ataxia, Spasticity, Tremor ORPHA:217012
Camos Syndrome
Ataxia, Seizure, Progressive extrapyramidal movement disorder, Spasticity, Brain atrophy, Aplasia... ORPHA:83472
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Gait ataxia, Difficulty walking, Tremor ORPHA:423296
Neuroectodermal Melanolysosomal Disease
Hypertonia, Cerebral cortical hemiatrophy, Abnormality of the optic nerve, Cerebellar hypoplasia,... ORPHA:33445
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Dysmetria, Retinal degeneration, Ataxia, Increased neuronal autofluorescent l... OMIM:256731
Neurodegeneration With Brain Iron Accumulation 5
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, ... OMIM:300894
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Behr Syndrome
Cerebellar atrophy, Dysmetria, Ataxia, Progressive spasticity, Gait disturbance, Babinski sign, O... OMIM:210000
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Ataxia, Tremor OMIM:213000
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Cerebellar vermis atrophy, Cogwheel rigidity, Gait disturbance, Myoc... ORPHA:363710
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Ataxia, Cerebral cortical atrop... OMIM:617862
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Spastic tetraparesis, Dysmetria... OMIM:612319
Ceroid Lipofuscinosis, Neuronal, 2
Cerebral atrophy, Retinal degeneration, Increased extraneuronal autofluorescent lipopigment, Atax... OMIM:204500
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Intention tremor, Ataxia, Rigidity, Giant somatosensory evoked potentials, Se... OMIM:618876
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Hemiplegia, Hemiparesis, Seizure, Tremor OMIM:141500
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Dysmetria, Tremor, Abnormal cerebellum morphology, Poor coordination, Spasticity, Clumsiness, Bab... OMIM:270500
Ceroid Lipofuscinosis, Neuronal, 8
Cerebral atrophy, Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Sei... OMIM:600143
Diaminopentanuria
Spasticity, Ataxia, Seizure, Neurodegeneration OMIM:222350
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Parkinsonism, Ataxia, Abnormal cerebellum morphology, Increased neuronal autofluorescent lipopigm... OMIM:162350
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Babinski sign, Episodic ataxia, Slurred speech, Tremor OMIM:160120
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Spastic gait, Somatic sensory dysfunction, Lower limb spasticity,... ORPHA:101010
Morquio Syndrome C
Corneal opacity OMIM:252300
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Dysmetria, Myoclonic seizure, Atonic seizure, Cerebellar hypoplasia, Apraxia,... OMIM:617810
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Dysmetria, Inability to walk, Generalized myoclonic seizure, Rigidity, Gait d... OMIM:618090
Spinocerebellar Ataxia 23
Cerebellar atrophy, Dysmetria, Impaired vibration sensation in the lower limbs, Gait ataxia, Neur... OMIM:610245
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Gait disturbance, Abnormality ... OMIM:614561
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Dystonia, Oculogyric crisis, Inability to walk, Generalized myoclonic seizure... ORPHA:330050
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Cerebral atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Truncal ataxia OMIM:615268
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral atrophy, Cerebellar atrophy, Abnormal pyramidal sign, Parkinsonism, Dystonia, Ataxia, Ri... OMIM:617672
Ataxia-Tapetoretinal Degeneration Syndrome
Ataxia, Rod-cone dystrophy, Pigmentary retinopathy, Gait disturbance, Aplasia/Hypoplasia of the c... ORPHA:1178
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Tremor OMIM:617917
Spinocerebellar Ataxia 45
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia OMIM:617769
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Opacification of the cor... ORPHA:98960
Spinocerebellar Ataxia 7
Dysmetria, Olivopontocerebellar atrophy, Progressive cerebellar ataxia, Pigmentary retinopathy, S... OMIM:164500
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Seizure, Neurodegeneration OMIM:613068
Spinocerebellar Ataxia Type 12
Cerebral atrophy, Cerebellar atrophy, Action tremor, Abnormal pyramidal sign, Parkinsonism, Inten... ORPHA:98762
Spinocerebellar Ataxia, Autosomal Recessive 16
Ankle clonus, Cerebellar atrophy, Cerebellar hypoplasia, Unsteady gait, Spasticity, Limb ataxia, ... OMIM:615768
Dystonia 23
Cerebellar atrophy, Axial dystonia, Head tremor, Limb dystonia, Cerebral cortical atrophy, Gait d... OMIM:614860
Cerebellar Ataxia And Albinism
Head tremor, Olivopontocerebellar atrophy, Ataxia OMIM:258300
Developmental And Epileptic Encephalopathy 38
Dystonia, Ataxia, Retinal dystrophy, Status epilepticus, Hypertonia OMIM:617020
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar hypoplasia, Retinal dysplasia, Ataxia OMIM:615771
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Spastic Paraplegia 79, Autosomal Recessive
Tetraparesis, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Neurodegeneration, Intention tremo... OMIM:615491
Corneal Endothelial Dystrophy
Congenital corneal dystrophy, Increased corneal thickness, Opacification of the corneal stroma, A... OMIM:217700
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Neurodegeneration, Apr... OMIM:615157
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Dystonia, Choreoathetosis, Ataxia, Rigidity, Spasticity, Seizure, Optic atrop... OMIM:612438
Gordon Holmes Syndrome
Chorioretinal dystrophy, Cerebellar atrophy, Cerebral atrophy, Ataxia OMIM:212840
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait OMIM:616410
Spinocerebellar Ataxia Type 20
Kinetic tremor, Cerebellar atrophy, Abnormal pyramidal sign, Isometric tremor, Intention tremor, ... ORPHA:101110
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titu... OMIM:611302
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebral atrophy, Cerebellar atrophy, Action tremor, Parkinsonism, Apraxia, Bradykinesia, Seizure... OMIM:300423
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar vermis atrophy, Progressive cerebella... ORPHA:284332
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Dysmetria, Intention tremor, Gait ataxia, Progressive cerebellar ataxia, Tort... ORPHA:276193
Neurodegeneration With Brain Iron Accumulation
Retinopathy, Cerebellar atrophy, Dystonia, Rigidity, Spasticity, Chorea, Abnormality of extrapyra... ORPHA:385
Spinocerebellar Ataxia 18
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor OMIM:607458
Neuropathy, Ataxia, And Retinitis Pigmentosa
Corticospinal tract atrophy, Retinopathy, Ataxia, Retinal pigment epithelial mottling, Rod-cone d... OMIM:551500
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
Beta-Propeller Protein-Associated Neurodegeneration
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, ... ORPHA:329284
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Cerebellar vermis atrophy, Gait ataxia, Progressive cerebellar ataxi... ORPHA:98763
Spastic Ataxia-Corneal Dystrophy Syndrome
Ataxia, Gait disturbance, Hemiplegia/hemiparesis, Aplasia/Hypoplasia of the cerebellum, Optic atr... ORPHA:2572
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Ataxia, Seizure, Spasticity, Clumsiness, Abnormality of extrapyramidal m... ORPHA:79262
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Optic disc pallor, Optic atrophy, Tremor OMIM:165300
Spinocerebellar Ataxia 35
Incoordination, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Torticollis, Babinski si... OMIM:613908
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Diffuse cerebral atrophy, Gait disturbance, Babinski sign, Tremor OMIM:300660
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Cerebellar atrophy, Ataxia, Seizure, Myoclonus, Tremor OMIM:612016
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Cerebral atrophy, Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Neuronal l... OMIM:615924
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal dystrophy, Corneal guttata, Corneal stromal edema, Corneal degen... OMIM:136800
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Cerebellar atrophy, Dysmetria, Intention tremor, Lower limb spasticity, ... OMIM:616948
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Ataxia, Intention tremor OMIM:302500
Spinocerebellar Ataxia 12
Cerebellar atrophy, Dysmetria, Parkinsonism, Action tremor, Axial dystonia, Head tremor, Progress... OMIM:604326
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Seizure OMIM:615705
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Dilated fourth ventricle, Retrocerebellar... OMIM:614831
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Spastic gait, Lower limb spasticity, Aplasia/Hypoplasia of the ce... ORPHA:401820
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Myoclonic spasms, Dystonia, Generalized-onset se... ORPHA:79263
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Seizure, Hyperkinetic movements, Tremor OMIM:616921
X-Linked Non Progressive Cerebellar Ataxia
Frequent falls, Action tremor, Intention tremor, Cerebellar hypoplasia, Spastic dysarthria, Unste... ORPHA:314978
Spinocerebellar Ataxia 19
Cerebellar atrophy, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Limb ataxia, T... OMIM:607346
Galactosialidosis
Corneal opacity ORPHA:351
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal opacity, Corneal erosion, Corneal dystrophy OMIM:608470
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Focal-onset seizure, Paroxysmal dystonia, Prolonged somatosensor... OMIM:608105
Intellectual Developmental Disorder, Autosomal Recessive 6
Dystonia, Involuntary movements, Seizure, Myoclonus, Tremor OMIM:611092
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Ataxia, Impaired tandem gait, Bilateral ton... OMIM:619028
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Generalized-onset seizure, Fasciculations, Generalized myoclonic seizure, Degener... OMIM:159950
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Dysmetria, Intention tremor, Fasciculations, Gait ataxia, Limb ataxia, Trunca... OMIM:613728
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Spinocerebellar Ataxia Type 40
Dysmetria, Intention tremor, Pontocerebellar atrophy, Spastic paraparesis, Unsteady gait, Gait at... ORPHA:423275
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Cerebellar hypoplasia, Abnormality of retinal pigmentation, Optic atrophy, Ataxia ORPHA:2246
Dentatorubral-Pallidoluysian Atrophy
Abnormal pyramidal sign, Choreoathetosis, Ataxia, Chorea, Seizure, Atrophy of the dentate nucleus... OMIM:125370
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Dysmetria, Cerebellar hypoplasia, Seizure, Gait ataxia, Spasticity, Oculomoto... ORPHA:529665
Epilepsy, Familial Adult Myoclonic, 4
Enhancement of the C-reflex, Bilateral tonic-clonic seizure, Seizure, Myoclonus, Tremor OMIM:615127
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Abnormal lower motor neuron morphology, Frequent falls, Atonic seizure, Inabili... ORPHA:2590
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Ankle clonus, Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Oromandibular dystoni... ORPHA:521406
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Pontocerebellar atrophy, Spastic paraparesis, Unsteady gait, Dysdiad... OMIM:616053
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Cerebellar atrophy, Spastic tetraplegia, Ataxia, Spasticity, Seizure, Optic atrophy OMIM:617207
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity, Nuclear cataract ORPHA:293621
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Dysmetria, Ataxia, Steppage gait, Gait ataxia, Distal sensory impairment, Tremor OMIM:618387
Atypical Pantothenate Kinase-Associated Neurodegeneration
Retinopathy, Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Oromandibular... ORPHA:216873
Spinocerebellar Ataxia, Autosomal Recessive 18
Incoordination, Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Ataxia, Gait ataxia, Tr... OMIM:616204
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Cerebellar hypoplasia, Unsteady gait, Truncal ataxia, Tremor OMIM:616127
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Bilateral tonic-clonic seizure, Hyperkinetic movements, Tr... OMIM:618425
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Lopes-Maciel-Rodan Syndrome
Cerebral atrophy, Abnormal pyramidal sign, Cerebellar atrophy, Hypertonia, Dystonia, Caudate atro... OMIM:617435
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor OMIM:608687
Cln5 Disease
Cerebellar atrophy, Dysmetria, Atrophy/Degeneration affecting the central nervous system, General... ORPHA:228360
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure... OMIM:615400
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Granular corneal dystrophy, Corneal crystals, Central opacificat... ORPHA:98963
Developmental And Epileptic Encephalopathy 32
Seizure, Ataxia, Myoclonus, Tremor OMIM:616366
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Dysmetria, Cerebellar hypoplasia, Global brain atrophy, Dysdiadochokinesis, T... OMIM:610185
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Ataxia, Gait ataxia, Generalized n... OMIM:617831
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Gait ataxia, Spasticity, Clumsiness OMIM:608029
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Gait ataxia, Cerebellar atrophy, Retinal telangiectasia, Neurodegeneration ORPHA:438134
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Atonic seizure, Generalized myoclonic seizure, Babinski sign, Tremor OMIM:612437
Spinocerebellar Ataxia 29
Dysmetria, Cerebellar vermis atrophy, Intention tremor, Gait ataxia, Impaired tandem gait, Broad-... OMIM:117360
Spinocerebellar Ataxia 48
Cerebellar atrophy, Dysmetria, Parkinsonism, Dystonia, Ataxia, Gait ataxia, Chorea, Bilateral ton... OMIM:618093
Monomelic Amyotrophy
Fasciculations, Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction, ... ORPHA:65684
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Impaired vibration sensation in the lower limbs, Progressive cerebellar ataxia, Impaired distal p... ORPHA:137898
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Myoclonic absence seizure, Bradykinesia, Generalized myoclonic seizure, Ataxia, Rigidit... OMIM:617836
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Intention tremor, Chorioretinal dystrophy, Ataxia, Spinocerebellar atrophy, G... OMIM:215470
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Involuntary movements, Ataxia, Craniofacial dystonia, Spasticity, Chorea, Gait disturba... OMIM:617282
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Parkinsonism, Resting tremor, Bradykinesia, Craniofacial dystonia, Limb dysto... ORPHA:71517
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Spasticity, Cerebral cortical atrophy, Seizure, Optic atrophy, Tremor OMIM:300983
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Lower limb spasticity, Spastic paraplegia, Impaired vibration sensation in the lowe... OMIM:600363
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait, Rod-cone dystrophy, Ret... OMIM:614867
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Frequent falls, Intention tremor, Cerebellar vermis atrophy, Febrile seizure ... ORPHA:512260
Ceroid Lipofuscinosis, Neuronal, 10
Cerebral atrophy, Cerebellar atrophy, Ataxia, Retinal atrophy, Rod-cone dystrophy, Increased neur... OMIM:610127
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait, Seizure, Optic atrophy, Tremor OMIM:614947
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Atonic seizure, Bilateral tonic-clonic seizure, Generalized-onset seizure, Genera... ORPHA:36387
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Cerebellar atrophy, Dystonia, Progressive cerebellar ataxia, Seizure, My... ORPHA:139485
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Dystonia, Ataxia, Gait disturbance, Gait ... OMIM:617145
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Inability to walk, Epileptic spasm, Seizure, Tremor OMIM:619561
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Dysmetria, Cerebellar hypoplasia, Ataxia, Unsteady gait, Gait ataxia, Spasticity,... OMIM:213200
Spastic Paraplegia 78, Autosomal Recessive
Abnormal pyramidal sign, Cerebellar atrophy, Parkinsonism, Resting tremor, Impaired vibratory sen... OMIM:617225
Spinocerebellar Ataxia Type 17
Atrophy/Degeneration affecting the brainstem, Abnormal pyramidal sign, Cerebellar atrophy, Parkin... ORPHA:98759
Dravet Syndrome
Cerebral atrophy, Abnormal pyramidal sign, Myoclonic seizure, Atonic seizure, Focal hemiclonic se... OMIM:607208
Spinocerebellar Ataxia, Autosomal Recessive 21
Cerebellar atrophy, Frequent falls, Ataxia, Gait ataxia, Distal sensory impairment, Spasticity, T... OMIM:616719
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Generalized-onset seizure, Intention tremor, Fasciculations, Progr... ORPHA:284289
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Abnormal pyramidal sign, Cerebellar atrophy, Spastic tetraplegia, Ataxia, Decre... OMIM:256600
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Ataxia, Tremor OMIM:611105
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Increased corneal thickness, Abnormal Descemet membrane morphology, Cornea... ORPHA:293603
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Spinocerebellar Ataxia 17
Cerebellar atrophy, Dysmetria, Parkinsonism, Dystonia, Intention tremor, Apraxia, Bradykinesia, A... OMIM:607136
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Abnormal pons morphology, Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Impaired vibrat... ORPHA:98
Autosomal Spastic Paraplegia Type 58
Cerebral atrophy, Cerebellar atrophy, Frequent falls, Dysmetria, Abnormal pyramidal sign, Titubat... ORPHA:397946
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Enhancement of the C-reflex, Giant somatosensory evoked potentials, Bilatera... OMIM:613608
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Cerebellar atrophy, Dysmetria, Impaired vibratory sensation, Oculomotor apraxia, Progressive cere... ORPHA:284324
Multiple Mitochondrial Dysfunctions Syndrome 6
Cerebellar atrophy, Dysmetria, Dystonia, Ataxia, Optic disc pallor, Spasticity, Seizure OMIM:617954
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Gait ataxia, Gen... OMIM:618587
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Ataxia, Seizure, Generalized non-motor (absence) seizure, Difficulty walking, Myo... OMIM:614018
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Enhancement of the C-reflex, Giant somatosensory evoked potentials... OMIM:601068
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Spastic tetraplegia, Neurodegeneration, Spastic paraparesis, Bradykinesia, Gait disturb... OMIM:615643
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Spasticity, Babinski sign, Myoclon... OMIM:607317
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, Cerebral atrophy, Cerebellar atrophy, Chin myoclonus, Focal myo... ORPHA:263516
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Focal dystonia, Motor stereotypy, Generalized dystonia... ORPHA:98807
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Neurodegeneration With Brain Iron Accumulation 2B
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Neurodegeneration, Intention tremor, B... OMIM:610217
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Dystonia, Impaired proprioception, Spastic dysarthria, Spastic parapleg... ORPHA:251282
Spinocerebellar Ataxia, Autosomal Recessive 7
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Gait ataxia, Babinski sign, Limb ataxia... OMIM:609270
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Parkinsonism, Dystonia, Neurodegenera... OMIM:614298
Parkinson Disease 19A, Juvenile-Onset
Abnormal pyramidal sign, Parkinsonism, Dystonia, Shuffling gait, Bradykinesia, Rigidity, Spastici... OMIM:615528
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Difficulty walking, Tremor OMIM:158580
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Primary Dystonia, Dyt27 Type
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... ORPHA:464440
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Choreoathetosis, Ataxia, Spasticity, C... OMIM:618088
Parkinson Disease 2, Autosomal Recessive Juvenile
Cerebral atrophy, Parkinsonism, Dystonia, Bradykinesia, Rigidity, Gait disturbance, Tremor OMIM:600116
Atypical Juvenile Parkinsonism
Abnormal pyramidal sign, Short stepped shuffling gait, Resting tremor, Shuffling gait, Dystonia, ... ORPHA:391411
Glutathione Synthetase Deficiency
Spastic tetraparesis, Intention tremor, Ataxia, Pigmentary retinopathy, Seizure OMIM:266130
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Macular Corneal Dystrophy
Punctate opacification of the cornea, Hyperopic astigmatism, Decreased corneal thickness, Corneal... ORPHA:98969
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Retinal dysplasia OMIM:615041
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor ORPHA:401901
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central corneal dystrophy, Corneal crystals, Central opacificati... ORPHA:98962
Spinocerebellar Ataxia, Autosomal Recessive 31
Retinopathy, Cerebral atrophy, Dystonia, Choreoathetosis, Cerebellar hypoplasia, Ataxia, Seizure,... OMIM:619422
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Dystonia, Bradykinesia, Postural tremor, Rigidity, Diffuse cerebral atrophy, Gait disturbance, Ba... ORPHA:314632
4H Leukodystrophy
Cerebellar atrophy, Dysmetria, Dystonia, Ataxia, Upper motor neuron dysfunction, Progressive gait... ORPHA:289494
Spinocerebellar Ataxia 42
Cerebellar atrophy, Abnormal pyramidal sign, Spastic gait, Ataxia, Unsteady gait, Loss of Purkinj... OMIM:616795
Cyanide-Induced Parkinsonism-Dystonia
Parkinsonism, Short stepped shuffling gait, Resting tremor, Shuffling gait, Bradykinesia, Rigidit... ORPHA:306692
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... OMIM:314250
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Decreased nerve conduction velocity, Rod... OMIM:612674
Hsd10 Disease
Choreoathetosis, Spastic paraparesis, Ataxia, Rigidity, Gait disturbance, Frontotemporal cerebral... ORPHA:391417
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Cerebellar atrophy, Dysmetria, Frequent falls, Hand tremor, Axonal degeneration, ... OMIM:302800
Combined Oxidative Phosphorylation Defect Type 29
Retinopathy, Myoclonic spasms, Global brain atrophy, Optic neuropathy, Abnormal autonomic nervous... ORPHA:478029
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Action tremor, Frequent falls, Dysmetria, Atonic seizure, Apraxia, Extrapyram... ORPHA:93952
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar dysplasia, Dilated fourth ventricle, Cerebellar cyst, Inferior cerebellar vermis hypop... ORPHA:370022
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebral atrophy, Cerebellar atrophy, Ataxia, Steppage gait, Distal sensory impairment, Seizure OMIM:607250
Bilateral Frontoparietal Polymicrogyria
Cerebellar dysplasia, Abnormal pyramidal sign, Atonic seizure, Generalized myoclonic seizure, Abn... ORPHA:101070
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dysmetria, Dilated fourth ventricle, Cerebellar vermis atrophy, Ataxia, Gait ... ORPHA:1170
Glutathionuria
Tremor OMIM:231950
Dystonia, Dopa-Responsive
Incoordination, Dystonia, Resting tremor, Bradykinesia, Cogwheel rigidity, Gait ataxia, Impaired ... OMIM:128230
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Lower ... ORPHA:98811
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dysmetria, Dystonia, Abnormal cerebellum morphology, Ataxia, Postural tremor,... OMIM:607694
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Action tremor, Generalized-onset seizure, Intention tremor, Gait ataxia, Post... OMIM:254900
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Hand tremor, Akinesia, Gait ataxia, Limb ataxia, Gait disturbance, Truncal at... ORPHA:98764
Autosomal Dominant Cerebellar Ataxia
Action tremor, Dystonia, Progressive cerebellar ataxia, Pigmentary retinopathy, Paraparesis, Macu... ORPHA:99
Spinocerebellar Ataxia Type 2
Kinetic tremor, Parkinsonism, Dystonia, Fasciculations, Progressive cerebellar ataxia, Gait ataxi... ORPHA:98756
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Spasticity, Myoclonus, Tremor OMIM:616494
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Ataxia, Unsteady gait, Titubation, Tremor OMIM:619405
Spinocerebellar Ataxia 15
Cerebellar atrophy, Action tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Postural tremor OMIM:606658
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Abnormal Descemet membrane morphology, Corneal guttata, Corneal stromal edema,... OMIM:613270
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Juvenile Huntington Disease
Cerebellar atrophy, Dystonia, Cerebellar vermis atrophy, Bradykinesia, Ataxia, Progressive cerebe... ORPHA:248111
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Seizure, Optic atrophy, Broad-based gait, Tremor OMIM:619470
Winchester Syndrome
Corneal opacity OMIM:277950
Corneal Dystrophy, Meesmann, 1
Corneal dystrophy, Punctate opacification of the cornea OMIM:122100
Leukodystrophy, Hypomyelinating, 2
Cerebral atrophy, Dystonia, Choreoathetosis, Intention tremor, Spastic paraparesis, Ataxia, Decre... OMIM:608804
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait, Distal sensory impairme... OMIM:617633
Spinocerebellar Ataxia 2
Action tremor, Dysmetria, Parkinsonism, Dilated fourth ventricle, Impaired vibratory sensation, F... OMIM:183090
Poretti-Boltshauser Syndrome
Cerebellar dysplasia, Dilated fourth ventricle, Retinal thinning, Cerebellar cyst, Oculomotor apr... OMIM:615960
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Tremor ORPHA:494526
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Dentatorubral Pallidoluysian Atrophy
Action tremor, Dysmetria, Choreoathetosis, Impaired proprioception, Optic neuropathy, Involuntary... ORPHA:101
Parkinson Disease 14, Autosomal Recessive
Parkinsonism, Dystonia, Apraxia, Global brain atrophy, Bradykinesia, Rigidity, Spasticity, Clumsi... OMIM:612953
Limbal Stem Cell Deficiency
Corneal perforation, Corneal scarring, Opacification of the corneal epithelium, Cornea verticilla... ORPHA:171673
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Spinocerebellar Ataxia Type 10
Kinetic tremor, Cerebellar atrophy, Dysmetria, Generalized-onset seizure, Intention tremor, Lower... ORPHA:98761
Gm2 Gangliosidosis, Ab Variant
Cherry red spot of the macula, Abnormal pyramidal sign, Cerebral atrophy, Dystonia, Neurodegenera... ORPHA:309246
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Corneal opacity, Reduced number of corneal endothelial c... ORPHA:98974
Spinocerebellar Ataxia Type 1
Abnormality of somatosensory evoked potentials, Atrophy/Degeneration affecting the brainstem, Cer... ORPHA:98755
Neurodegeneration With Brain Iron Accumulation 3
Parkinsonism, Dystonia, Choreoathetosis, Blepharospasm, Bradykinesia, Ataxia, Laryngeal dystonia,... OMIM:606159
Keratoendotheliitis Fugax Hereditaria
Opacification of the corneal stroma, Conjunctival hyperemia, Keratitis OMIM:148200
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebral atrophy, Optic neuritis, Cerebellar atrophy, Action tremor, Abnormal retinal morphology,... ORPHA:254886
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Abnormal nerve conduction velocity, Ataxia, Paraparesis, Gait disturbanc... ORPHA:99014
Null Syndrome
Progressive spastic paraplegia, Inability to walk, Abnormal cerebellum morphology, Decreased nerv... ORPHA:280234
Jaberi-Elahi Syndrome
Cerebellar atrophy, Dysmetria, Dystonia, Choreoathetosis, Inability to walk, Gait ataxia, Spastic... OMIM:617988
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia ORPHA:284271
Dystonia 27
Action tremor, Laryngeal dystonia, Postural tremor, Writer's cramp, Oromandibular dystonia OMIM:616411
Tremor-Ataxia-Central Hypomyelination Syndrome
Dysmetria, Dystonia, Autonomic bladder dysfunction, Cerebellar hypoplasia, Spastic dysarthria, In... ORPHA:447896
Developmental And Epileptic Encephalopathy 56
Action tremor, Status epilepticus, Ataxia, Poor coordination, Generalized non-motor (absence) sei... OMIM:617665
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Steppage gait, Decreased sensory nerve conduction velocity, Decreased motor nerve con... OMIM:609260
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Dysmetria, Hypertonia, Intention tremor, Ataxia, Steppage gait, Cerebellar gl... OMIM:616505
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Action tremor, Hypertonia, Parkinsonism, Dystonia, Global brain atrophy, Atax... OMIM:619738
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Dystonia, Spastic paraparesis, Generalized myoclonic seizure, Atax... OMIM:614487
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar vermis atrophy, Ataxia, Gait ataxia, ... ORPHA:208513
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Difficulty walking, Distal sensory impairment, Tremor OMIM:615048
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Dravet Syndrome
Photosensitive myoclonic seizure, Action tremor, Global brain atrophy, Focal aware seizure, Cogwh... ORPHA:33069
Krabbe Disease
Neurodegeneration, Decreased nerve conduction velocity, Progressive spasticity, Diffuse cerebral ... OMIM:245200
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Dystonia, Choreoathetosis, Oculomotor apraxia, Ataxia, Axonal degeneration, G... OMIM:208920
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Intention tremor, Progressive cerebellar ataxia, Spasticity, Progr... ORPHA:352403
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Spastic tetraplegia, Cerebellar hypoplasia, Ataxia, Rigidity, Spasticity, Neurodegeneration, Seiz... OMIM:618476
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... OMIM:260300
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Parkinsonism, Abnormal cranial nerve morphology, Resting tremor, Shuffling gait, Intention tremor... ORPHA:247234
Hsd10 Disease, Infantile Type
Cerebral atrophy, Spastic tetraparesis, Retinal degeneration, Choreoathetosis, Dystonia, Loss of ... ORPHA:391428
Spinocerebellar Ataxia 13
Abnormal pyramidal sign, Cerebellar atrophy, Gait ataxia, Progressive cerebellar ataxia, Limb dys... OMIM:605259
Non-Specific Early-Onset Epileptic Encephalopathy
Cerebral atrophy, Retinal degeneration, Involuntary movements, Limb hypertonia, Ataxia, Seizure, ... ORPHA:442835
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Dystonia, Myoclonus, Tremor OMIM:619647
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy, Dystonia, Ataxia, Tetraplegia, Oculomotor apraxia OMIM:616267
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Generalized non-motor (absence) seizure, Ataxia, Tremor OMIM:616421
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Tremor, Seizure, Myoclonus, Hypertonia OMIM:261630
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Spinocerebellar Ataxia Type 21
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Progressive cerebellar ataxia, Rigidity, Abnorm... ORPHA:98773
Spinocerebellar Ataxia 5
Incoordination, Cerebellar atrophy, Dysmetria, Impaired vibratory sensation, Intention tremor, Ga... OMIM:600224
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Subepithelial corneal opacities, Corneal dystrophy, Corneal scarring, Kera... ORPHA:293381
Corticobasal Syndrome
Somatic sensory dysfunction, Parkinsonism, Dystonia, Involuntary movements, Bradykinesia, Limb ap... ORPHA:454887
Pelizaeus-Merzbacher Disease
Abnormal pyramidal sign, Dystonia, Choreoathetosis, Generalized dystonia, Cerebellar vermis atrop... OMIM:312080
Spinocerebellar Ataxia 34
Abnormal pyramidal sign, Cerebellar atrophy, Intention tremor, Fasciculations, Ataxia, Gait ataxi... OMIM:133190
Caribbean Parkinsonism
Orthostatic hypotension, Action tremor, Parkinsonism, Dystonia, Autonomic bladder dysfunction, Ap... ORPHA:97355
Parkinson Disease 22, Autosomal Dominant
Orthostatic hypotension, Resting tremor, Bradykinesia, Gait disturbance, Tremor OMIM:616710
Spinocerebellar Ataxia 27
Cerebellar atrophy, Impaired vibratory sensation, Head tremor, Ataxia, Gait ataxia, Truncal ataxi... OMIM:609307
Neurotrophic Keratopathy
Corneal ulceration, Corneal perforation, Corneal scarring, Astigmatism, Corneal stromal edema, Al... ORPHA:137596
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar vermis atrophy, Ata... OMIM:618170
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Dysmetria, Hypertonia, Dystonia, Abnormality of retinal pigmentation, At... ORPHA:96
Spinocerebellar Ataxia 44
Cerebellar atrophy, Frequent falls, Dysmetria, Ataxia, Gait ataxia, Spasticity, Dysdiadochokinesis OMIM:617691
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Impaired tactile sensation, Tremor, Ataxia, Focal-onset seizure, Gait ataxia, Bilateral tonic-clo... OMIM:619092
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Athetosis, Gait disturbance, Rigid... OMIM:213600
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Neuronal loss in central nervous system, Spasticity, Neurodegeneration, Facia... OMIM:616239
Glut1 Deficiency Syndrome 2
Cerebral atrophy, Dystonia, Choreoathetosis, Ataxia, Tremor OMIM:612126
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Bradykinesia, Seizure, Gait ataxia, Impaired distal vibration sensation, Opti... ORPHA:98768
Atypical Rett Syndrome
Dystonia, Pill-rolling tremor, Apraxia, Loss of ability to walk, Involuntary movements, Stereotyp... ORPHA:3095
Combined Oxidative Phosphorylation Deficiency 45
Seizure, Ataxia, Tremor OMIM:618951
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Degeneration of anterior horn cells, Axonal degeneration, Distal sen... OMIM:604484
Paralysis Agitans, Juvenile, Of Hunt
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Gait disturbance, Tremor OMIM:168100
Infantile Cerebellar-Retinal Degeneration
Cerebellar atrophy, Athetosis, Ataxia, Focal-onset seizure, Cerebral cortical atrophy, Retinal dy... OMIM:614559
Inherited Creutzfeldt-Jakob Disease
Central nervous system degeneration, Abnormal pyramidal sign, Senile plaques, Spastic dysarthria,... ORPHA:282166
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Abnormal nerve conduction velocity, Ataxia, Gait disturbance, Tremor ORPHA:101075
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Dystonia, Cerebellar vermis atrophy, Inte... OMIM:614381
Leukodystrophy, Hypomyelinating, 15
Cerebral atrophy, Abnormal pyramidal sign, Cerebellar atrophy, Dystonia, Intention tremor, Inabil... OMIM:617951
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Eyelid myoclonus, Incoordination, Abnormal pyramidal sign, Cerebellar hypoplasia, Pontocerebellar... OMIM:618060
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Ataxia, Optic di... ORPHA:97229
Parkinsonism With Polyneuropathy
Resting tremor, Decreased amplitude of sensory action potentials, Bradykinesia, Decreased motor n... OMIM:619279
Hyperphenylalaninemia, Bh4-Deficient, A
Parkinsonism, Dystonia, Choreoathetosis, Bradykinesia, Tremor, Ataxia, Rigidity, Seizure, Hypertonia OMIM:261640
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Myoclonus, Tremor OMIM:159900
Lower Motor Neuron Syndrome With Late-Adult Onset
Abnormal sensory nerve conduction velocity, Fasciculations, Inability to walk, Impaired distal vi... ORPHA:276435
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Focal dystonia, Axial dystonia, Head tremor, Craniofacial dystonia, Unsteady ... ORPHA:420492
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hemiballismus, Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Cerebral atrophy, Bradykinesi... OMIM:618877
Autosomal Dominant Keratitis
Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris stroma, Kera... ORPHA:2334
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Global brain atrophy, Phonic tics, Pigmentary retinopathy, Abnormality of extrapyramida... OMIM:234200
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Spastic paraparesis, Bradykinesia, Cogwheel rigidity, Spasticity, Scissor gait, D... ORPHA:363654
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Dystonia, Cerebral cortical hemiatrophy, Bradykinesia, Hemiparesis, Difficulty walk... ORPHA:306669
Hypermanganesemia With Dystonia 2
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Opisthotonus, Dystonia, Generalized dystonia,... OMIM:617013
Spinocerebellar Ataxia 8
Incoordination, Abnormal pyramidal sign, Cerebellar atrophy, Progressive cerebellar ataxia, Spast... OMIM:608768
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Ataxia, Infantile spasms, Tremor OMIM:278780
Severe Neurodegenerative Syndrome With Lipodystrophy
Tetraparesis, Cerebral atrophy, Abnormal pyramidal sign, Caudate atrophy, Status epilepticus, Ata... ORPHA:363400
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Cerebellar hypoplasia, Ankle clonus, Cerebellar atrophy, Unsteady gait, Speech apraxia, Rigidity,... ORPHA:412057
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Decreased sensory nerve conduction velocity, Decreased motor... OMIM:603472
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Resting tremor, Involuntary movements, Ataxia, Progressive extrapyramidal movement diso... ORPHA:401768
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Somatic sensory dysfunction, Focal dystonia, Apraxia, In... ORPHA:240103
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Abnormal pyramidal sign, Spastic tetraparesis, Paralysis, Dystonia, Neurodegene... OMIM:272750
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Ataxia, Decreased nerve conduction velocity, Gait disturbance, Tremor ORPHA:101078
Combined Oxidative Phosphorylation Deficiency 29
Retinopathy, Cerebellar atrophy, Dystonia, Global brain atrophy, Optic neuropathy, Axonal degener... OMIM:616811
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Parkinsonism With Spasticity, X-Linked
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign OMIM:300911
Spastic Paraplegia 39, Autosomal Recessive
Progressive spastic paraplegia, Cerebellar atrophy, Atrophy of the spinal cord, Ataxia, Gait dist... OMIM:612020
Spastic Tetraplegia And Axial Hypotonia, Progressive
Abnormal pyramidal sign, Cerebellar atrophy, Spastic tetraparesis, Hypertonia, Fasciculations, Lo... OMIM:618598
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Ataxia, Spasticity, Oculomotor apraxia, Seizure, Tremor OMIM:612716
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Blepharospasm, Generalized myoclonic seizure, Ataxia, Focal-onset seizure, Bi... ORPHA:352582
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Cerebral atrophy, Ataxia, Tremor OMIM:618637
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Dysmetria, Hypertonia, Abnormal cerebellum morphology, Gait ataxia, Truncal t... OMIM:618056
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration, Neurodegeneration, Arm dystonia, Speech apraxia, Paroxysmal dystonia, Gait ... ORPHA:79244
Brittle Cornea Syndrome 2
Keratoglobus, Sclerocornea, Decreased corneal thickness, Flat cornea, Keratoconus, Megalocornea OMIM:614170
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Poor coordination, Ataxia, Cogwheel rigidity, Limb ataxia, Slurred speech, Tr... ORPHA:98772
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal sensory nerve conduction velocity, Impaired proprioception, Impaired vibration sensation... ORPHA:88628
Late-Infantile/Juvenile Krabbe Disease
Frequent falls, Impaired tactile sensation, Spastic diplegia, Spastic paraparesis, Lower limb spa... ORPHA:206443
Developmental And Epileptic Encephalopathy 4
Cerebral atrophy, Spastic tetraplegia, Generalized myoclonic seizure, Spastic paraplegia, General... OMIM:612164
Spinocerebellar Ataxia Type 36
Dysmetria, Hand tremor, Intention tremor, Head tremor, Fasciculations, Ataxia, Truncal ataxia, Lo... ORPHA:276198
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebral atrophy, Cerebellar atrophy, Frequent falls, Spastic tetraplegia, Inability to walk, Gen... ORPHA:1947
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Vestibular areflexia, Dysmetria, Intention tremor, Gait ataxia, Progressive cerebellar ataxia, Dy... ORPHA:504476
Myopathy With Extrapyramidal Signs
Cerebellar dysplasia, Frequent falls, Dystonia, Choreoathetosis, Ataxia, Seizure, Clonus, Chorea,... OMIM:615673
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Dysmetria, Action tremor, Resting tremor, Parkinsonism, Intention tremor, Bra... OMIM:300623
Aceruloplasminemia
Parkinsonism, Retinal degeneration, Dystonia, Abnormality of retinal pigmentation, Involuntary mo... ORPHA:48818
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Decreased nerve conduction velocity, Hypertonia ORPHA:1368
Adult-Onset Autosomal Dominant Leukodystrophy
Atrophy of the spinal cord, Orthostatic hypotension, Action tremor, Clonus, Abnormal cerebellar p... ORPHA:99027
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Spastic paraparesis, Inability to walk, Decreased motor nerve conduc... ORPHA:101077
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Abnormal pyramidal sign, Dystonia, Caudate atroph... ORPHA:52368
Cerebral Visual Impairment
Central nervous system degeneration, Optic nerve hypoplasia, Cerebral palsy, Retinopathy of prema... ORPHA:447788
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Dysmetria, Somatic sensory dysfunction, Head tremor, Gait ataxia, Titubation ORPHA:98771
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Tremor OMIM:619651
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Somatic sensory dysfunction, Limb fasciculations, Abnor... ORPHA:90117
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Apraxia, Bradykinesia, Gait ataxia, Truncal ataxia, Rigidity, S... OMIM:137440
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Degeneration of anterior horn... OMIM:602433
Kufor-Rakeb Syndrome
Hypertonia, Parkinsonism, Dystonia, Bradykinesia, Spastic paraplegia, Ataxia, Akinesia, Seizure, ... OMIM:606693
Spinocerebellar Ataxia 21
Cerebellar atrophy, Parkinsonism, Dystonia, Intention tremor, Ataxia, Akinesia, Cogwheel rigidity... OMIM:607454
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor OMIM:610297
Parkinsonism-Dystonia 1, Infantile-Onset
Abnormal pyramidal sign, Hypertonia, Parkinsonism, Dystonia, Oculogyric crisis, Oromandibular dys... OMIM:613135
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Spinocerebellar Ataxia, Autosomal Recessive 11
Truncal ataxia, Cerebellar atrophy, Limb ataxia, Ataxia OMIM:614229
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Photosensitive myoclonic seizure, Tremor, Cerebral cortical atrophy, Gait disturbance, Aplasia/Hy... ORPHA:1192
Herpes Simplex Virus Stromal Keratitis
Descemet Membrane Folds, Corneal perforation, Herpetiform corneal ulceration, Corneal stromal ede... ORPHA:137599
Subacute Inflammatory Demyelinating Polyneuropathy
Abnormality of somatosensory evoked potentials, Abnormality of the autonomic nervous system, Freq... ORPHA:206594
Spinocerebellar Ataxia Type 42
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Spastic gait, Resting tremor, C... ORPHA:458803
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Dystonia, Resting tremor, Intention tremor, Bradykinesia, Ataxia, Cogwheel rigidity... OMIM:619725
Atopic Keratoconjunctivitis
Corneal opacity, Keratoconjunctivitis sicca, Chemosis, Keratitis, Corneal neovascularization ORPHA:163934
Primary Dystonia, Dyt2 Type
Torsion dystonia, Generalized dystonia, Blepharospasm, Involuntary movements, Limb dystonia, Tort... ORPHA:99657
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Spastic dysarthria, Head tremor, Impaired vibration sensation in the lower limbs, Spinocerebellar... ORPHA:95433
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Babin... ORPHA:477673
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Vestibular areflexia, Cerebellar atrophy, Ataxia, Abnormal autonomic nervous system physiology, G... OMIM:614575
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Parkinsonism, Olivopontocerebellar atrophy, Bradykinesia, Abnormal auton... OMIM:146500
Dystonia 12
Parkinsonism, Dystonia, Bradykinesia, Unsteady gait, Torticollis, Tremor OMIM:128235
Urocanic Aciduria
Action tremor, Ataxia, Gait ataxia, Truncal ataxia, Broad-based gait ORPHA:210128
Dopa-Responsive Dystonia
Parkinsonism, Dystonia, Generalized dystonia, Oculogyric crisis, Inability to walk, Leg dystonia,... ORPHA:255
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Tetraparesis, Ataxia, Cerebellar edema, Seizure, Brain atrophy, Tremor OMIM:617186
Tay-Sachs Disease
Cherry red spot of the macula, Dystonia, Global brain atrophy, Gait disturbance, Typical absence ... ORPHA:845
Adrenoleukodystrophy
Incoordination, Spastic paraplegia, Paraparesis, Truncal ataxia, Neurodegeneration, Limb ataxia, ... OMIM:300100
Aicardi-Goutieres Syndrome 6
Loss of ability to walk, Rigidity, Dystonia, Tremor OMIM:615010
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Congenital Disorder Of Glycosylation, Type Ie
Retinopathy, Abnormal macular morphology, Pontocerebellar atrophy, Ataxia, Seizure, Optic atrophy... OMIM:608799
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Ataxia, Tremor OMIM:619099
Myopathy, Spheroid Body
Waddling gait, Broad-based gait, Tremor OMIM:182920
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Cerebellar hypoplasia, Inability to walk, Tremor, Ataxia, Seizure, Hypertonia OMIM:619556
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Abnormal pyramidal sign, Dystonia, Impaired proprioception, Pontocerebellar a... OMIM:606002
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Cerebral atrophy, Abnormality of the optic nerve, Spastic paraplegia, Gait disturbance, Tip-toe g... ORPHA:83629
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Myoclonic absence seizure, Ataxia, Poor coordination, Recurrent hand f... ORPHA:544254
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Spasticity, Seizure, Brain atrophy, Tremor OMIM:618718
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Hand tremor, Resting tremor, Shuffling gait, Focal dystonia, Bl... ORPHA:53351
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy, Ataxia, Tremor OMIM:619473
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Ataxia, Enhancement of the C-reflex, Giant somatosensory evoked potentials, Bilate... OMIM:607876
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Resting tremo... ORPHA:314404
Multiple System Atrophy
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Resting tremor, Autonomic bladder dysfunct... ORPHA:102
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Tetraparesis, Abnormal pyramidal sign, Action tremor, Opisthotonus, Frequent falls, Dystonia, Ina... OMIM:607483
3-Methylglutaconic Aciduria, Type Viii
Cerebral atrophy, Dystonia, Tremor, Seizure, Hypertonia OMIM:617248
Spinocerebellar Ataxia Type 8
Cerebellar atrophy, Dystonia, Impaired vibratory sensation, Cerebellar vermis atrophy, Spastic dy... ORPHA:98760
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Parkinsonism, Resting tremor, Shuffling gait, Choreoathetosis, Apraxia, Spastic tet... OMIM:300055
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Cerebellar cyst, Cerebellar hypoplasia, Retinal detachment, Optic nerve hyp... OMIM:615181
Neuroferritinopathy
Parkinsonism, Dystonia, Resting tremor, Focal dystonia, Caudate atrophy, Blepharospasm, Involunta... ORPHA:157846
Sialidosis Type 2
Abnormal macular morphology, Seizure, Ataxia, Tremor ORPHA:87876
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Parkinsonism, Dystonia, Shuffling gait, Oculogyric crisis, Abnormal autonomic ner... OMIM:618049
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Ectopia pupillae, Corneal dystrophy OMIM:612868
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cerebellar dysplasia, Motor stereotypy, Gait disturbance, Bilateral tonic-clonic seizure, Upper l... ORPHA:457240
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cerebral atrophy, Dystonia, Ataxia, Chorea, Neurodegeneration, Seizure OMIM:618321
Leber Optic Atrophy
Dystonia, Leber optic atrophy, Optic neuropathy, Ataxia, Postural tremor, Optic atrophy, Central ... OMIM:535000
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dilated fourth ventricle, Spastic tetraplegia, A... ORPHA:572798
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cerebral atrophy, Dystonia, Spastic tetraplegia, Neurodegeneration, Poor coordination, Ataxia, Ga... OMIM:616878
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Cerebellar atrophy, Cataplexy, Ataxia, Spasticity, Optic atrophy OMIM:604121
Autosomal Dominant Spastic Paraplegia Type 9A
Abnormal pyramidal sign, Spastic gait, Spastic dysarthria, Impaired vibration sensation in the lo... ORPHA:447753
Parkinson Disease 17
Parkinsonism, Resting tremor, Bradykinesia, Akinesia, Rigidity, Tremor OMIM:614203
Multiple System Atrophy, Cerebellar Type
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Resting tremor, Autonomic bladder dysfunct... ORPHA:227510
Wolfram Syndrome 1
Cerebral atrophy, Ataxia, Pigmentary retinopathy, Seizure, Optic atrophy, Tremor OMIM:222300
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Abnormal pyramidal sign, Somatic sensory dysfunction, Dystonia, Choreoathetosis, Cerebellar vermi... ORPHA:64753
Crigler-Najjar Syndrome Type 1
Seizure, Tremor ORPHA:79234
Atypical Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Freezing of gait, Parkinsonism, Focal dystonia, Extrapyramidal muscular ... ORPHA:99750
Amyloidosis, Hereditary, Transthyretin-Related
Abnormal autonomic nervous system physiology, Ataxia, Spasticity, Hemiparesis, Paraplegia, Orthos... OMIM:105210
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Spinocerebellar Ataxia, X-Linked 4
Abnormal pyramidal sign, Ataxia, Tremor OMIM:301840
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Ataxia, Neurodegeneration, Unsteady gait OMIM:615919
Brain Dopamine-Serotonin Vesicular Transport Disease
Spastic tetraparesis, Parkinsonism, Dystonia, Shuffling gait, Oculogyric crisis, Tremor, Ataxia, ... ORPHA:352649
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity... ORPHA:240085
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal ulceration, Corneal scarring OMIM:616488
Urocanase Deficiency
Ataxia, Tremor OMIM:276880
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Choreoathetosis, Limb hypertonia, Rigidity, Seizure, Hyperkinetic movements, Tremor OMIM:233910
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Paralysis, Spasticity, Neurodegeneration, Amyotrophic lateral sclerosis ORPHA:803
Multiple System Atrophy, Parkinsonian Type
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Resting tremor, Autonomic bladder dysfunct... ORPHA:98933
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Atrophy of the spinal cord, Tremor, Ce... ORPHA:466768
Familial Dyskinesia And Facial Myokymia
Dystonia, Resting tremor, Limb hypertonia, Chorea, Difficulty walking, Myoclonus ORPHA:324588
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Blepharospasm, Tremor, Limb dystonia, Torticollis, Writer's cramp, Oromandibula... OMIM:607671
Developmental And Epileptic Encephalopathy 42
Athetosis, Ataxia, Tremor, Seizure, Hypertonia OMIM:617106
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Distal sensory impairment, Tremor OMIM:616668
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microcornea, Astigmatism, Corneal opacity, Cataract, Myopic astigmatism OMIM:152950