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Gene: Atxn7 MGI:2179277

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Gene Summary

Name:
ataxin 7
Synonyms:
Sca7,  ataxin-7,  A430107N12Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased bone mineral content Atxn7em1(IMPC)Bay HOM Early adult 3.44×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

Phenotype associated images not available

Human diseases caused by Atxn7 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 Atxn7 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinocerebellar Ataxia 7
Optic atrophy, Spasticity, Macular degeneration, Pigmentary retinopathy, Chorea, Dysmetria, Tremo... OMIM:164500
Spinocerebellar Ataxia Type 7
Macular degeneration, Cerebellar atrophy, Somatic sensory dysfunction, Cerebral atrophy, Dysmetri... ORPHA:94147

The table below shows human diseases predicted to be associated to Atxn7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Posterior Column Ataxia
Impaired vibratory sensation, Scoliosis, Impaired proprioception, Ataxia OMIM:176250
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Scoliosis, Tremor, Ataxia OMIM:213000
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait OMIM:616410
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance, Medial flaring of the eyebrow ORPHA:1168
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Cerebe... OMIM:615268
Spinocerebellar Ataxia Type 5
Incoordination, Gait disturbance, Cerebellar atrophy, Slurred speech ORPHA:98766
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy OMIM:605388
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata... ORPHA:95434
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,... OMIM:617018
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Somatic sensory dysfunction, Progressive spastic paraplegia, Distal s... ORPHA:101010
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ... OMIM:616053
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor ORPHA:217012
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Giant somatosensory evoked potentials, Seizure,... OMIM:618876
Spinocerebellar Ataxia 37
Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:617769
Myasthenic Syndrome, Congenital, 18
Difficulty walking, Ptosis, Ataxia OMIM:616330
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Rod-cone dystroph... ORPHA:1178
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Nonprogressive cerebellar a... ORPHA:94122
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Cerebellar atrophy, Ataxia OMIM:619333
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb d... ORPHA:363710
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Cerebellar atrophy, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia OMIM:616187
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Seizure, Myoclonus, Dysmetria, Retinal degeneration, Loss of ambulation, Clum... OMIM:256731
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Limb dyst... OMIM:605407
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Seizure, Abnormal cerebellum morphology, Myoclonus, Abnormality of extrapyrami... OMIM:162350
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... ORPHA:251282
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:617133
Spinocerebellar Ataxia 31
Cerebellar atrophy, Limb ataxia, Gait ataxia, Ataxia OMIM:117210
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Cerebellar atrophy, Seizure, Gait imbalance, Myoclonus, Rod-cone d... OMIM:301020
Spastic Paraplegia 62, Autosomal Recessive
Spasticity, Tip-toe gait, Fasciculations, Difficulty walking, Abnormal cerebellum morphology, Ank... OMIM:615681
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Seizure, Myoclonus, Loss of ambulation, Ataxia OMIM:600143
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Spasticity, Cerebellar atrophy, Chiari type I malformation, Babinski sign, Impaired dista... OMIM:619742
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait disturbance, Bilateral ... OMIM:616230
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia OMIM:615957
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxi... OMIM:614322
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... OMIM:614561
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Cerebellar atrophy, Seizure, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski... OMIM:607317
Spastic Paraplegia 18B, Autosomal Recessive
Spastic paraplegia, Inability to walk, Ankle clonus, Babinski sign, Lower limb spasticity, Gait d... OMIM:611225
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Cerebellar atrophy, Retinal dystrophy, Ataxia OMIM:614706
Dentatorubral-Pallidoluysian Atrophy
Seizure, Chorea, Myoclonus, Parkinsonism, Atrophy of the dentate nucleus, Ataxia, Choreoathetosis OMIM:125370
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness,... ORPHA:79262
Spinocerebellar Ataxia 35
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o... OMIM:613908
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Limb myoclonus, Seizure, Difficulty walking, Inability to walk, Myoclonu... ORPHA:2590
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Spasticity, Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, ... ORPHA:284332
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Hemiplegia/hemiparesis, Spastic ataxia, Gait disturbance, Aplasia/Hypoplasia of th... ORPHA:2572
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at... OMIM:616948
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Seizure, Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor ... OMIM:615362
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Cerebellar hypoplasia, Babinski sign, Ataxia, Truncal ataxia OMIM:617584
Developmental And Epileptic Encephalopathy 37
Spasticity, Cerebellar atrophy, Chorea, Cogwheel rigidity, Myoclonus, Rigidity, Hyperkinetic move... OMIM:616981
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor ORPHA:308
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk... OMIM:615768
Progressive Myoclonic Epilepsy Type 3
Optic atrophy, Cerebellar atrophy, Limb myoclonus, Focal myoclonic seizure, Febrile seizure (with... ORPHA:263516
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Cerebellar atrophy, Somatic sensory dysfunction, Limb myoclon... OMIM:619862
Oculomotor-Levator Synkinesis
Eyelid retraction, Ptosis, Abnormal eyelid morphology OMIM:151610
Spinocerebellar Ataxia 50
Froment sign, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Postural tremor, Myoclonus, ... OMIM:620158
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Spinocerebellar Ataxia Type 28
Spasticity, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, Rigidity, Dystonia, Babinski si... ORPHA:101109
Huntington Disease-Like 2
Involuntary movements, Chorea, Parkinsonism, Gait disturbance, Weight loss, Dystonia ORPHA:98934
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Pontocerebella... ORPHA:423275
Spastic Ataxia 1, Autosomal Dominant
Spastic paraplegia, Spastic ataxia, Ptosis, Gait disturbance, Dystonia OMIM:108600
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr... ORPHA:276193
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Seizure, Abnormal cerebellum morphology, Myoclonus, Retinal ... OMIM:204200
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration, Myoclonus, Seizure, Ataxia OMIM:204500
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Cerebellar atrophy, Aplasia of the inferior half of the cerebellar vermis, Gait... OMIM:610185
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Frequent falls, Myoclonus, Gait ataxia, Bilateral tonic-clonic sei... OMIM:616540
Spinocerebellar Ataxia 11
Cerebellar atrophy, Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebel... OMIM:604432
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Action tremor, Cerebellar hypoplasia, Clumsiness, Truncal ataxia, U... ORPHA:314978
Myasthenic Syndrome, Congenital, 15
Difficulty walking, Ptosis, Frequent falls OMIM:616227
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy, Cerebellar atrophy, Hypoplasia of the pons, Myoclonus, Cerebellar hypoplasia OMIM:619303
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Generalized myoclonic seizure, Cerebellar atrophy, Focal impaired awareness seizur... ORPHA:330050
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Generalized non-motor (absence) seizure, Difficulty walking, Myoclonus, Tremor, L... OMIM:614018
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Laryngeal dystonia, Gait ataxia, Ab... ORPHA:101110
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morphology, Limb dysmetria... ORPHA:98762
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Abnormality o... OMIM:610743
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Trem... ORPHA:98763
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Retinal dysplasia OMIM:615041
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Tremor, Gait disturbance, Ataxia, Scoliosis, Kyphosis ORPHA:101075
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... OMIM:610245
Spinocerebellar Ataxia 48
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia... OMIM:618093
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent... OMIM:614831
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia OMIM:208700
Juvenile Huntington Disease
Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Myoclonus, Gait ataxia, ... ORPHA:248111
Progressive Myoclonic Epilepsy With Dystonia
Diffuse cerebellar atrophy, Optic atrophy, Hemiplegia, Myoclonus, Hemiparesis, Abnormality of ext... ORPHA:352596
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Retinal pigment epithelial mottling, Inability to walk, Cerebellar vermis atr... OMIM:619389
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Thick eyebrow, Gait ataxia, L... OMIM:616127
Autosomal Recessive Spastic Paraplegia Type 48
Broad-based gait, Progressive spastic paraplegia, Myoclonus, Retinopathy, Abnormality of the cerv... ORPHA:306511
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Cerebellar atrophy, Seizure, Myoclonus, Tremor, Generalized tonic s... OMIM:612016
Creutzfeldt-Jakob Disease
Extrapyramidal muscular rigidity, Abnormal cerebellum morphology, Myoclonus, Gait ataxia, Hemipar... OMIM:123400
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia ORPHA:2589
Camos Syndrome
Optic atrophy, Spasticity, Aplasia/Hypoplasia of the cerebellum, Ataxia, Progressive extrapyramid... ORPHA:83472
Mitochondrial Complex I Deficiency, Nuclear Type 19
Optic atrophy, Cerebellar atrophy, Seizure, Inability to walk, Myoclonus, Rigidity, Loss of ambul... OMIM:618241
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Cerebellar hypoplasia, Optic atrophy, Abnormality of retinal pigmentation, Ataxia ORPHA:2246
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis OMIM:607458
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, R... OMIM:610951
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... OMIM:616291
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Tremor, Gait disturbance, Ataxia, Scoliosis, Kyphosis ORPHA:101078
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Failure to thrive, Upper limb hypertonia, Limb dystonia, Clonus, Ky... ORPHA:319199
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Cerebellar atrophy, Hand tremor, Impaired vibra... OMIM:614409
Epilepsy, Progressive Myoclonic, 1B
Atonic seizure, Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia, Generalized myoclonic seizure OMIM:612437
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista... ORPHA:101108
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy, Spastic paraparesis, Upper limb hypertonia, Lower limb hypertonia, Myoclonus, Prog... ORPHA:254343
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Tremor, Hereditary Essential, 6
Cerebellar atrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Cerebellar atrophy, Generalized myoclonic seizure, Myoclonus, Dy... OMIM:614487
Spinocerebellar Ataxia 12
Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiado... OMIM:604326
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Spasticity, Seizure, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Letha... OMIM:606777
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Myoclonus, Trun... OMIM:607346
Spinocerebellar Ataxia 13
Optic atrophy, Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Limb dysmetria, Myoclonu... OMIM:605259
Dystonia 23
Cerebellar atrophy, Head tremor, Myoclonus, Gait disturbance, Torticollis OMIM:614860
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cerebellar atrophy, Seizure, Epileptic spasm, Myoclonus, Cerebellar hypoplasia, Ataxia, Erratic m... OMIM:619971
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Fasciculations, Tortuosity of conjunctival vessels, Limb ataxia, Gait ataxia,... OMIM:613728
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Bilateral tonic-clonic se... OMIM:619028
Yoon-Bellen Neurodevelopmental Syndrome
Optic atrophy, Spasticity, Downslanted palpebral fissures, Bilateral ptosis, Inability to walk, I... OMIM:619701
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Unsteady gait, Gait ataxia, Ataxia OMIM:615705
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Seizure, Chorea, Limb ataxia, Positive Romberg sign, Gait a... OMIM:607136
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Tremor, Epicanthus, Short neck, Ataxia OMIM:618951
Spinocerebellar Ataxia 28
Spasticity, Cerebellar atrophy, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Babinski s... OMIM:610246
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Bab... OMIM:611302
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Gait ataxia, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-cl... OMIM:618587
Spinocerebellar Ataxia 2
Spasticity, Action tremor, Parkinsonism, Rod-cone dystrophy, Ataxia, Unsteady gait, Bradykinesia,... OMIM:183090
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor OMIM:608029
Marcus Gunn Phenomenon
Unilateral ptosis, Congenital ptosis OMIM:154600
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis, Bilateral ptosis OMIM:193240
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Cerebellar Ataxia, Cayman Type
Broad-based gait, Cerebellar atrophy, Gait ataxia, Cerebellar hypoplasia, Abnormal retinal morpho... OMIM:601238
X-Linked Progressive Cerebellar Ataxia
Scoliosis, Cerebellar vermis atrophy, Limb ataxia, Intention tremor, Dysmetria, Babinski sign, Pr... ORPHA:1175
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Cerebellar atrophy, Generalized myoclonic seizure, Myoclonus, Dy... ORPHA:313772
Myoclonic-Atonic Epilepsy
Myoclonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Tremor, Ataxia, Eyeli... OMIM:616421
Developmental And Epileptic Encephalopathy 92
Spasticity, Seizure, Difficulty walking, Inability to walk, Myoclonus, Lethargy, Ataxia OMIM:617829
Epilepsy, Familial Adult Myoclonic, 3
Giant somatosensory evoked potentials, Difficulty walking, Myoclonus, Tremor, Enhancement of the ... OMIM:613608
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration, Cerebellar atrophy, Fasciculations, Generalized-onset seizure, Tortuosity o... ORPHA:284289
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Axial dystonia, Action tremor, Oro... ORPHA:464440
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Combined Saposin Deficiency
Optic atrophy, Fasciculations, Myoclonus, Hyperkinetic movements, Babinski sign, Generalized clon... OMIM:611721
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Babinski s... OMIM:616204
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Seizure, Upslanted palpebral fissure, Hypoplasia of the fovea, Epicanthus, Ptosis OMIM:620086
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady... OMIM:302500
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebellar atrophy, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Parkinso... ORPHA:521406
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Myoclonus, Abnormality of extrapyramidal motor function, Status epilepticus without prominent mot... OMIM:204300
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Roussy-Lévy Syndrome
Impaired vibratory sensation, Somatic sensory dysfunction, Impaired pain sensation, Difficulty wa... ORPHA:3115
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis, Tremor, Ataxia OMIM:619099
Myasthenic Syndrome, Congenital, 17
Difficulty walking, Ptosis OMIM:616304
Myoclonus, Intractable, Neonatal
Chorea, Myoclonus, Ptosis, Optic disc pallor, Athetosis, Clonic seizure, Dandy-Walker malformation OMIM:617235
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Gait ataxia, Dysmetria, Dystonia, Babinski sign, Synophrys, Clumsin... ORPHA:453521
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Myasthenic Syndrome, Congenital, 13
Ptosis, Scoliosis OMIM:614750
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ... OMIM:619317
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Spasticity, Macular degeneration, Seizure, Myoclonus, Retinal degeneration, Ataxia OMIM:256730
Ataxia-Telangiectasia-Like Disorder
Cerebellar vermis hypoplasia, Cerebellar atrophy, Chorea, Dilated fourth ventricle, Gait ataxia, ... ORPHA:251347
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait ORPHA:284271
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Developmental And Epileptic Encephalopathy 23
Hypoplasia of the pons, Long eyelashes, Telecanthus, Thick eyebrow, Myoclonus, Infantile spasms, ... OMIM:615859
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Cerebellar atrophy, Dysmetria, Ankle clonus, Babinski sign, Lower limb spasti... OMIM:610357
Peho-Like Syndrome
Optic atrophy, Cerebellar atrophy, Myoclonus, Epicanthus, Bilateral tonic-clonic seizure, Status ... OMIM:617507
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gai... OMIM:213200
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Spasticity, Myoclonic seizure, Cerebellar atrophy, Seizure, Inability to walk, Epileptic spasm, C... OMIM:614254
Ataxia, Sensory, 1, Autosomal Dominant
Sensory ataxia, Decreased amplitude of sensory action potentials, Abnormal cerebellum morphology,... OMIM:608984
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Bilateral tonic-clonic seizure with focal onset, Gait ataxia, Myoclonus, Dysmetria... ORPHA:254881
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Diffuse cerebellar atrophy, Broad-based gait, Progressive truncal ataxia, Difficulty walking, Dys... ORPHA:363429
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Seizure, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Lethargy, Hypertonia, At... ORPHA:71277
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Inability to walk, Lumbar hyperlordosis, Obesity, Lower limb spasticity, Ataxia... OMIM:616756
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Myoclonus, Tremor, Enhancement of the C-reflex, Bilateral tonic-clonic seizure OMIM:615127
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Dysmetria, Unsteady gait, Intent... OMIM:615386
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Gait ataxia, Limb dysmetria, Dysmetria, Ptosis, Dysdiadochokinesis ORPHA:324262
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Cerebellar atrophy, Gait ataxia, Myoclonus, Dysmetria, Distal sensory impairment, ... OMIM:616505
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Bilateral tonic-clonic seizure on awakening, Episodic ataxia, Generalize... OMIM:607682
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Seizure, Myoclonus, Ataxia, Generalized myoclonic seizure OMIM:545000
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal sensory impairment, Tremor OMIM:614369
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Cerebellar atrophy, Seizure, Generalized-onset seizure, Chorea, Myoclonus, Dysmetria,... ORPHA:79263
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Atonic seizure, Kinetic tremor OMIM:611092
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Scoliosis, Difficulty walking, Generalized-onset seizure, Myoclonus, Tremo... OMIM:159950
Spastic Paraplegia 53, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Upper limb hypertonia, Gait disturbance, Clonus... OMIM:614898
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ... ORPHA:284324
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Myoclonus, Dysmetria, Bilateral tonic-clonic seizure, Ataxia OMIM:619191
Spinocerebellar Ataxia Type 36
Loss of Purkinje cells in the cerebellar vermis, Tongue fasciculations, Limb myoclonus, Hand trem... ORPHA:276198
Spinocerebellar Ataxia 7
Optic atrophy, Spasticity, Macular degeneration, Pigmentary retinopathy, Chorea, Dysmetria, Tremo... OMIM:164500
Striatonigral Degeneration, Infantile, Mitochondrial
Poor motor coordination, Difficulty walking, Incoordination, Chorea, Myoclonus, Babinski sign, Cl... OMIM:500003
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Seizure, Ina... ORPHA:391411
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Myoclonus, Bilateral tonic-clonic seizure, Status epilepticus, Choreoathetosis OMIM:609056
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Riboflavin Transporter Deficiency
Abnormality of macular pigmentation, Seizure, Hypogonadism, Abnormal cranial nerve morphology, My... ORPHA:97229
Familial Infantile Bilateral Striatal Necrosis
Optic atrophy, Spasticity, Tetraparesis, Gait ataxia, Cogwheel rigidity, Myoclonus, Rigidity, Los... ORPHA:225154
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyr... OMIM:617145
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Seizure, Myoclonus, Babinsk... OMIM:620538
Leukodystrophy, Hypomyelinating, 11
Spasticity, Cerebellar atrophy, Failure to thrive, Myoclonus, Tremor, Ataxia OMIM:616494
Developmental And Epileptic Encephalopathy 16
Optic atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis, Status epile... OMIM:615338
Foxg1 Syndrome
Spasticity, Optic disc hypoplasia, Difficulty walking, Inability to walk, Infantile spasms, Myocl... ORPHA:561854
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Seizure, Cherry red spot of the macula, Myoclonus, Ataxia, Anterior beaking of lum... OMIM:230650
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia, Scoliosis, Kyphosis ORPHA:99014
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Spasticity, Involuntary movements, Seizure, Downslanted palpebral fissures, Diffic... ORPHA:442835
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Hsd10 Disease
Optic atrophy, Spastic paraparesis, Seizure, Myoclonus, Tremor, Rigidity, Gait disturbance, Ataxi... ORPHA:391417
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity, Limb dystonia, Tremor, Cerebellar hypoplasia, Ataxia OMIM:620270
Episodic Ataxia, Type 5
Typical absence seizure, Episodic ataxia, Febrile seizure (within the age range of 3 months to 6 ... OMIM:613855
Alexander Disease Type I
Spasticity, Cerebellar atrophy, Failure to thrive, Cachexia, Abnormal pyramidal sign, Ataxia, Sco... ORPHA:363717
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonic seizure, Gait ataxia, Upslanted palpebral fissure, Myoclonus, Impaired tactile sensatio... OMIM:619092
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Seizure, Myoclonus, Tremor, Abnormal pyramidal sign, Progressive cerebellar a... ORPHA:139485
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Distal sensory impairment, Tremor, Fasciculations OMIM:615048
Fibrosis Of Extraocular Muscles, Congenital, 3C
Congenital fibrosis of extraocular muscles, Highly arched eyebrow, Kyphosis, Congenital bilateral... OMIM:609384
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Spasticity, Head tremor, Impaired vibration sensation in the lower limbs, Gait ataxia, Impaired p... ORPHA:352641
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Hand tremor, Myoclonus, Prolonged somatosensory evoked potentials, Focal hemifacial clonic seizur... OMIM:608105
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Seizure, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia OMIM:615924
Basal Ganglia Calcification, Idiopathic, 1
Cerebellar dentate nucleus calcification, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Par... OMIM:213600
Spinocerebellar Ataxia 49
Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Loss of ambulation, ... OMIM:619806
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Steppage gait, Ataxia OMIM:618387
Huntington Disease-Like 2
Bradykinesia, Chorea, Action tremor, Rigidity, Weight loss, Dystonia OMIM:606438
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Difficulty walking, Distal sensory impairment, Optic disc pallor, Scoliosis, Kyphosis OMIM:617087
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Abnormal vertebral morphology, Abnormality of the vertebral column, Seizure, Myoclonus, Dysmetria... OMIM:250620
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy, Spasticity, Seizure, Myoclonus, Babinski sign, Ptosis, Ata... OMIM:252011
Spinocerebellar Ataxia 29
Truncal titubation, Diffuse cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, C... OMIM:117360
Spinocerebellar Ataxia Type 13
Optic atrophy, Cerebellar atrophy, Seizure, Difficulty walking, Limb ataxia, Gait ataxia, Myoclon... ORPHA:98768
Null Syndrome
Optic atrophy, Progressive spastic paraplegia, Difficulty walking, Inability to walk, Decreased n... ORPHA:280234
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Limb ataxia, Babinski sign, Progressive gait ataxia, Truncal ataxia, Progress... ORPHA:101112
Myoclonic Epilepsy Of Infancy
Poor motor coordination, Poor hand-eye coordination, Generalized non-motor (absence) seizure, Leb... ORPHA:86909
Developmental And Epileptic Encephalopathy 40
Spasticity, Seizure, Myoclonus, Lethargy, Spastic tetraparesis, Choreoathetosis OMIM:617065
Isaacs Syndrome
Weight loss, Distal sensory impairment, Fasciculations ORPHA:84142
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Falls, Resting tremor, Cerebellar atrophy, Gait... OMIM:617225
Developmental And Epileptic Encephalopathy 27
Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Infantile spasms, Myoclonus, Bil... OMIM:616139
Ptosis-Vocal Cord Paralysis Syndrome
Hemiplegia, Ptosis ORPHA:2997
Narp Syndrome
Retinal pigment epithelial mottling, Seizure, Retinal arteriolar tortuosity, Progressive gait ata... ORPHA:644
Myoclonus-Dystonia Syndrome
Myoclonus, Limb myoclonus, Torticollis, Spinal myoclonus ORPHA:36899
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Seizure, Limb ataxia, Gait ataxia, Acti... ORPHA:101
Spinocerebellar Ataxia 46
Cerebellar atrophy, Limb ataxia, Gait ataxia, Positive Romberg sign, Dysmetria OMIM:617770
Congenital Disorder Of Glycosylation, Type In
Spasticity, Seizure, Myoclonus, Short neck, Ataxia OMIM:612015
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Tongue fasciculations, Kyphosis, Failure to thrive, Ataxia OMIM:620007
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ptosis, Ataxia, Dystonia... OMIM:618049
Childhood-Onset Spasticity With Hyperglycinemia
Optic atrophy, Spastic dysarthria, Myoclonus, Babinski sign, Loss of ability to walk in early chi... ORPHA:401866
Alexander Disease
Spasticity, Seizure, Dysmetria, Abnormal dentate nucleus morphology, Babinski sign, Ataxia, Palat... OMIM:203450
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Difficulty walking, Impaired vibration sensation in the lower limbs, Loss of ambulation, Spastic ... ORPHA:137898
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetr... OMIM:618090
Leukodystrophy, Hypomyelinating, 20
Cerebellar atrophy, Babinski sign, Ptosis, Hypertonia, Torticollis, Dystonia, Scoliosis, Spastic ... OMIM:619071
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Difficulty walking, Ataxia OMIM:619425
Dystonia 22, Juvenile-Onset
Cerebellar atrophy, Generalized dystonia, Laryngeal dystonia, Intention tremor, Dysmetria, Lower ... OMIM:620453
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Scoliosis, Decreased motor nerve conduction velocity, Impaired pain sensation, Distal sensory imp... OMIM:607684
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Cerebellar atrophy, Ataxia, Unsteady gait, Scoliosis, Kyphosis, Synophrys OMIM:300861
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation, Ataxia ORPHA:2579
Restless Legs Syndrome, Susceptibility To, 1
Paresthesia, Myoclonus OMIM:102300
Spinocerebellar Ataxia 44
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis OMIM:617691
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Gait ataxia, Myoclonus, Rigidity, Abnormality of extrapyramidal motor function, ... ORPHA:101150
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development
Spastic paraplegia, Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Ankle cl... OMIM:607565
Neuropathy, Hereditary Motor And Sensory, Russe Type
Difficulty walking, Distal sensory impairment, Paralysis, Ptosis, Scoliosis OMIM:605285
Cerebral Creatine Deficiency Syndrome 2
Atonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus... OMIM:612736
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxi... OMIM:617633
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Inability to walk, Extrapyramidal muscular rigidity, Obesity, Action tremor, ... ORPHA:93952
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia OMIM:614229
Pontocerebellar Hypoplasia, Type 4
Loss of Purkinje cells in the cerebellar vermis, Spasticity, Hypoplasia of the pons, Seizure, Myo... OMIM:225753
Atypical Rett Syndrome
Spasticity, Involuntary movements, Pill-rolling tremor, Impaired pain sensation, Limb myoclonus, ... ORPHA:3095
Myasthenic Syndrome, Congenital, 16
Bilateral ptosis, Ptosis, Gait disturbance, Hyperlordosis, Periodic paralysis OMIM:614198
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Fo... OMIM:615400
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Cerebellar atrophy, Cerebral atrophy, Positive Romberg sign, Dysmetria, Loss of ambul... OMIM:618088
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Impaired vibratory sensation, Spasticity, Cerebellar vermis hypoplasia, Cerebellar atrophy, Parie... ORPHA:98
Ptosis, Hereditary Congenital 2
Ptosis OMIM:300245
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Dravet Syndrome
Incoordination, Action tremor, Focal hemiclonic seizure, Parkinsonism, Photosensitive tonic-cloni... ORPHA:33069
Caribbean Parkinsonism
Autonomic bladder dysfunction, Myoclonus, Action tremor, Rigidity, Progressive gait ataxia, Parki... ORPHA:97355
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cerebellar atrophy, Gait disturbance, Ataxia, Scoliosis, Kyphosis, Synophrys ORPHA:85317
Ptosis, Hereditary Congenital 1
Congenital ptosis OMIM:178300
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ptosis, Tremor, Ataxia OMIM:618637
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Autosomal Spastic Paraplegia Type 58
Spasticity, Cerebellar atrophy, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia... ORPHA:397946
Developmental And Epileptic Encephalopathy 32
Myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclo... OMIM:616366
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Cerebellar atrophy, Generalized dystonia, Inability to walk, Tremor, Babinski sign... OMIM:128100
Developmental And Epileptic Encephalopathy 69
Spastic tetraplegia, Inability to walk, Myoclonus, Hyperkinetic movements, Status epilepticus OMIM:618285
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Developmental And Epileptic Encephalopathy 109
Spasticity, Crouch gait, Myoclonic seizure, Typical absence seizure, Myoclonus, Gait ataxia, Foca... OMIM:620145
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Blepharospasm, Optic atrophy, Pigmentary retinopathy, Spasticity, Involuntary movements, Chorea, ... OMIM:617282
Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:454887
Spinocerebellar Ataxia 4
Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Babinski sign, Progressive cerebel... OMIM:600223
Intellectual Developmental Disorder, Autosomal Dominant 56
Broad-based gait, Spasticity, Seizure, Inability to walk, Myoclonus, Upslanted palpebral fissure,... OMIM:617854
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Seizure, Inability to walk, Epileptic spasm, Myoclonus, Hyperkinetic movements... OMIM:618497
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast... OMIM:616795
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Falls, Seizure, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abnormality of... ORPHA:13
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure, Ataxia OMIM:254800
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Involuntary movements, Macular degeneration, Cerebellar atrophy, Myoclonus, Dysmetria, Abnormal p... OMIM:619780
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar atrophy, Bradykinesia, Cerebellar vermis atrophy, Tremor, Ankle clonus, Dy... OMIM:617435
Fibrosis Of Extraocular Muscles, Congenital, 5
Ptosis OMIM:616219
Early Myoclonic Encephalopathy
Infantile spasms, Myoclonus, Focal seizure with eyelid myoclonia, Lethargy, Focal tonic seizure, ... ORPHA:1935
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Boucher-Neuhauser Syndrome
Spasticity, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait ataxia, Chorioretina... OMIM:215470
Mitochondrial Complex I Deficiency, Nuclear Type 16
Spasticity, Failure to thrive, Ptosis, Dystonia, Scoliosis, Spastic tetraplegia, Choreoathetosis OMIM:618238
Gerstmann-Straussler Disease
Spasticity, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsoni... OMIM:137440
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Spasticity, Arm dystonia, Cerebellar atrophy, Fasciculations, Dysme... ORPHA:88644
Peroxisome Biogenesis Disorder 8B
Spasticity, Spastic paraparesis, Loss of ambulation, Clonus, Ataxia, Unsteady gait, Retinal dystr... OMIM:614877
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Impaired pain sensation, Cerebellar vermis atrophy, Paresthesia, Limb ataxia, Gait at... OMIM:616719
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia OMIM:609306
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia OMIM:617916
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Focal-onset seizure, Paraparesis, Bilateral tonic-clo... ORPHA:726
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Shuffling gait, Cerebellar atrophy, Paresthesia, Cogwheel rigidity, Action tremor,... ORPHA:254886
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Gait ataxia, Limb dystonia, Parkinsonism, Craniofacial dyston... ORPHA:71517
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, Gait ataxia,... ORPHA:512260
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Seizure, Decreased nerve conduction velocity, Myoclonus, Intention tremor, Dy... OMIM:618356
Behr Syndrome
Optic atrophy, Cerebellar atrophy, Hypoplastic optic chiasm, Cerebellar vermis atrophy, Dysmetria... OMIM:210000
Gerstmann-Straussler-Scheinker Syndrome
Acroparesthesia, Limb myoclonus, Paresthesia, Gait ataxia, Abnormal cerebellum morphology, Abnorm... ORPHA:356
Proximal Myopathy With Extrapyramidal Signs
Involuntary movements, Resting tremor, Progressive extrapyramidal muscular rigidity, Difficulty w... ORPHA:401768
Ptosis, Strabismus, And Ectopic Pupils
Ptosis OMIM:178330
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Small for gestational age, Tremor, Ataxia OMIM:278780
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Hemimegalencephaly
Optic atrophy, Seizure, Epileptic spasm, Myoclonus, Hemiparesis, Focal tonic seizure, Atonic seiz... ORPHA:99802
Oculopharyngeal Muscular Dystrophy 1
Ptosis, Gait disturbance, Progressive ptosis OMIM:164300
Mitochondrial Complex I Deficiency, Nuclear Type 4
Spasticity, Myoclonic seizure, Seizure, Myoclonus, Lethargy, Ptosis, Ataxia OMIM:618225
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, ... ORPHA:98764
Primary Dystonia, Dyt4 Type
Blepharospasm, Upper limb postural tremor, Involuntary movements, Generalized dystonia, Laryngeal... ORPHA:98805
Spinocerebellar Ataxia 36
Tongue fasciculations, Cerebellar atrophy, Fasciculations, Incoordination, Limb ataxia, Gait atax... OMIM:614153
Pontocerebellar Hypoplasia Type 4
Seizure, Myoclonus, Olivopontocerebellar hypoplasia, Hypertonia ORPHA:166063
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Focal dystonia, Chorea, Limb dystonia, Tremor, Rigidity, Clumsiness, Parkinsonism, Ab... ORPHA:216873
Infantile Spasms Syndrome
Infantile spasms, Myoclonus ORPHA:3451
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Oculomotor-Abducens Synkinesis
Ptosis OMIM:619215
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Benign Adult Familial Myoclonic Epilepsy
Generalized-onset seizure, Myoclonus, Focal-onset seizure, Hand tremor ORPHA:86814
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus, Seizure OMIM:217200
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the pons, Generalized non-motor (absence) seizure, Inability to walk, Long eyelashe... ORPHA:411986
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Broad-based gait, Cerebellar atrophy, Bilateral ptosis, Difficulty walking, Positive Romberg sign... OMIM:616479
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Ataxia, Spastic diplegia OMIM:619065
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Generalized non-motor (absence) seizure, Seizure, Chorea, Infantil... ORPHA:485350
Hyperphenylalaninemia, Bh4-Deficient, C
Seizure, Myoclonus, Tremor, Hypertonia, Choreoathetosis OMIM:261630
Sandhoff Disease
Kyphosis, Failure to thrive, Ataxia ORPHA:796
Lennox-Gastaut Syndrome
Falls, Myoclonus, Focal-onset seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure,... ORPHA:2382
Familial Infantile Myoclonic Epilepsy
Blepharospasm, Cerebellar atrophy, Limb myoclonus, Seizure, Focal-onset seizure, Clumsiness, Bila... ORPHA:352582
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Cerebellar atrophy, Action tremor, Rigidity, Babinski sign, Parkinsonism, Impa... OMIM:300423
Alexander Disease Type Ii
Spasticity, Spastic paraparesis, Abnormal medulla oblongata morphology, Rigidity, Babinski sign, ... ORPHA:363722
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Progressive spastic paraplegia, Babinski sign, Gait disturbance, Atrophy of t... OMIM:612020
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Seizure, Retinopathy, Tremor, Cerebellar hypoplasia, Lumbar kyphoscoliosis, Ptosis... OMIM:619422
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Camptocormia, Paroxysm... OMIM:606703
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Gait disturbance, Parkinsonism with ... ORPHA:314632
Spinocerebellar Ataxia 5
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Incoordination, Limb ataxia, ... OMIM:600224
Spinocerebellar Ataxia Type 17
Blepharospasm, Spasticity, Involuntary movements, Cerebellar atrophy, Chorea, Rigidity, Parkinson... ORPHA:98759
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Oculom... ORPHA:208513
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Cerebellar atrophy, Resting tremor, Incoordination, Limb fasciculations, Lim... OMIM:615157
X-Linked Intellectual Disability, Stocco Dos Santos Type
Epicanthus, Small for gestational age, Kyphosis ORPHA:85288
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:240103
Pontocerebellar Hypoplasia, Type 2E
Optic atrophy, Spasticity, Myoclonic seizure, Cerebellar atrophy, Infantile spasms, Myoclonus, Op... OMIM:615851
Huntington Disease-Like 1
Involuntary movements, Cerebellar atrophy, Incoordination, Chorea, Gait ataxia, Simultanapraxia, ... ORPHA:157941
Juvenile Amyotrophic Lateral Sclerosis
Difficulty walking, Axial dystonia, Opisthotonus, Parkinsonism, Cachexia, Clonus, Ataxia, Tip-toe... ORPHA:300605
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Perioral Myoclonia With Absences
Falls, Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclon... ORPHA:139426
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Cerebellar atrophy, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ataxia,... ORPHA:98772
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Spasticity, Thick eyebrow, Gait disturbance, Truncal obesity, Scoliosis, Kyphosis, Synophrys ORPHA:2429
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Failure to thrive, Tremor OMIM:619651
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... OMIM:618357
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ... OMIM:208920
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Rigidity, Chiari type I malformation, Dystonia, Ataxia, Bradykinesia OMIM:617836
Wernicke-Korsakoff Syndrome
Ptosis, Ataxia OMIM:277730
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Somatic sensory dysfunction, Difficulty walking, Inability to walk, Tremor, ... ORPHA:101077
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Impaired pain sensation, Obesity, Distal sensory impairment, Loss of ambulation, Ataxia, Unsteady... OMIM:618124
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Seizure, Incoordination, Tremor, Pontocerebellar atrophy, Cerebellar hypoplasia, Oculomotor aprax... OMIM:618060
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... OMIM:617391
Microcephaly 16, Primary, Autosomal Recessive
Spasticity, Telecanthus, Decreased body weight, Ptosis, Spastic tetraplegia OMIM:616681
Late Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonic seizure, Cerebellar atrophy, Atonic seizure, Seizure, Typical absence seizu... ORPHA:168491
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Optic atrophy, Spasticity, Seizure, Paresthesia, Myoclonus, Hemiplegia/hemiparesis, Abnormality o... ORPHA:79279
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Lower... OMIM:600363
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston... OMIM:617284
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spinocerebellar Ataxia 27B, Late-Onset
Postural tremor, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:620174
Fatty Acyl-Coa Reductase 1 Deficiency
Highly arched eyebrow, Cerebellar atrophy, Seizure, Inability to walk, Ptosis, Spastic tetrapares... ORPHA:438178
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Tip-toe gait, Lower limb spasticity, Gait disturbance, Hyperlordosis, Scoliosis, Kyphosis, Spinal... OMIM:617404
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ... ORPHA:352649
Hemifacial Atrophy, Progressive
Horner syndrome, Kyphosis, Blepharophimosis, Ataxia OMIM:141300
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Highly arched eyebrow, Spasticity, Cerebellar vermis atrophy, Ptosis, Spastic tetraparesis, Dandy... OMIM:616154
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Phosphoserine Aminotransferase Deficiency
Cerebellar vermis hypoplasia, Myoclonus, Seizure, Hypertonia OMIM:610992
Combined Oxidative Phosphorylation Deficiency 20
Cerebellar hypoplasia, Ptosis, Hypertonia, Ataxia, Small for gestational age OMIM:615917
Glycosylphosphatidylinositol Biosynthesis Defect 15
Spasticity, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetria, Cerebellar hyp... OMIM:617810
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt... ORPHA:1170
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Optic atrophy, Cerebellar atrophy, Secondary amenorrhea, Bilateral ptosis, Limb ataxia, Gait atax... OMIM:258450
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Intellectual Disability-Developmental Delay-Contractures Syndrome
Oculomotor apraxia, Ptosis, Scoliosis, Kyphosis ORPHA:3454
Cdkl5-Deficiency Disorder
Impaired pain sensation, Difficulty walking, Infantile spasms, Focal-onset seizure, Generalized t... ORPHA:505652
Myoclonus, Familial, 2
Limb myoclonus, Seizure OMIM:618364
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Truncal a... ORPHA:352403
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis OMIM:168400
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility OMIM:619009
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Azoospermia, Testicular atrophy, Male infertility, Progressive cerebellar ataxia ORPHA:276183
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Ataxia, Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentia... OMIM:616688
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Gait ataxia, Action tremor, Distal sensory impairment, Kyphoscoliosis OMIM:180800
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Unsteady gait, Myoclonus, Seizure, Hypertonia OMIM:610090
Intellectual Developmental Disorder, Autosomal Dominant 26
Highly arched eyebrow, Short palpebral fissure, Small for gestational age, Cerebral palsy, Downsl... OMIM:615834
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tongue fasciculations, Cerebellar atrophy, Generalized non-motor (absence) seizure, Seizure, Cere... OMIM:618170
Hyperprolactinemia
Oligomenorrhea, Female infertility, Menorrhagia OMIM:615555
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi... OMIM:609270
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Sialidosis Type 1
Abnormal form of the vertebral bodies, Seizure, Cherry red spot of the macula, Decreased nerve co... ORPHA:812
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Frequent falls, Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity OMIM:300718
Microcephaly, Amish Type
Optic atrophy, Cerebellar vermis hypoplasia, Myoclonus, Hypoplasia of the fovea, Cerebellar hypop... OMIM:607196
Myasthenic Syndrome, Congenital, 8
Ptosis OMIM:615120
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Retinal at... ORPHA:370022
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Huntington Disease
Involuntary movements, Seizure, Difficulty walking, Inability to walk, Chorea, Gait imbalance, My... ORPHA:399
2p15-16.1 microdeletion syndrome
Telecanthus, Ptosis, Optic disc hypoplasia, Downslanted palpebral fissures DECIPHER:70
Myasthenic Syndrome, Congenital, 12
Fatigable weakness, Ptosis, Retinoschisis, Facial palsy, Waddling gait OMIM:610542
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Juvenile Neuronal Ceroid Lipofuscinosis
Poor motor coordination, Pigmentary retinopathy, Cerebellar atrophy, Seizure, Retinal degeneratio... ORPHA:79264
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Myoclonus, Intention tremor, Ptosis, Clonic seizure, Status epilepticus, Bilateral tonic... OMIM:610539
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Developmental And Epileptic Encephalopathy 99
Cerebellar atrophy, Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure... OMIM:619606
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance, Impaired dist... ORPHA:276435
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Bradykinesia, Extrapyramidal muscular rigidity, Speech apraxia, Freezing of... ORPHA:99750
Dystonia 34, Myoclonic
Hand tremor, Head tremor, Myoclonus, Impaired tandem gait, Ptosis, Torticollis, Writer's cramp, D... OMIM:619724
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Paroxysmal dyskines... ORPHA:98810
Spinocerebellar Ataxia Type 21
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor fun... ORPHA:98773
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hyperton... OMIM:619738
Spermatogenic Failure 17
Male infertility OMIM:617214
Baker-Gordon Syndrome
Involuntary movements, Inability to walk, Hyperkinetic movements, Epicanthus, Ataxia, Scoliosis, ... OMIM:618218
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Mepan Syndrome
Optic atrophy, Spasticity, Cerebellar atrophy, Chorea, Myoclonus, Gait disturbance, Ataxia ORPHA:508093
Spinocerebellar Ataxia 47
Spasticity, Cerebellar vermis atrophy, Chorea, Dysmetria, Ptosis, Ataxia OMIM:617931
Machado-Joseph Disease
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Facial-lingual fasciculations, Fasc... OMIM:109150
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, Dystonia, Ptosis, Limb hypertonia, Bradykine... ORPHA:70594
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy, Bilateral ptosis, Gait imbalance, Limb dysmetria, Fatigable weakness of r... ORPHA:329336
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ata... OMIM:600116
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Seizure, Myoclonus, Limb tremor, Focal tonic seizure, Hypertonia OMIM:300699
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Broad-based gait, Tip-toe gait, Fasciculations, Babinski sign, Steppage gait, Lower limb spastici... OMIM:615290
Spastic Ataxia 3, Autosomal Recessive
Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Loss of ambula... OMIM:611390
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Spasticity, Distal sensory impairment, Tremor, Babinski sign, Steppage gait, Hypertonia, Scoliosis OMIM:609260
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Seizure, Downslanted palpebral fissures, Difficulty walki... OMIM:611890
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia ORPHA:210128
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Seizure, Akinesia, Myoclonus, Distal sensory impairment, Rigidity... OMIM:606693
Pontocerebellar Hypoplasia, Type 7
Optic atrophy, Tongue fasciculations, Spasticity, Spastic paraplegia, Hypoplasia of the pons, Sei... OMIM:614969
Pulmonary Blastoma
Weight loss ORPHA:64741
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Generalized myoclonic seizure, Focal myoclonic seizure, Progressive spastic paraplegi... ORPHA:464282
Stxbp1-Related Encephalopathy
Spasticity, Inability to walk, Tremor, Ataxia, Dystonia, Spastic tetraplegia ORPHA:599373
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Neuroectodermal Melanolysosomal Disease
Spasticity, Tremor, Rigidity, Cerebellar hypoplasia, Hypertonia, Ataxia, Abnormal cerebellar verm... ORPHA:33445
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Broad-based gait, Cerebellar atrophy, Dysmetria, Ptosis, Ataxia OMIM:618098
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Typical absence seizure, Hypoplasia of the pons, Seizure, Cerebella... ORPHA:101070
Mitochondrial Complex I Deficiency, Nuclear Type 31
Myoclonus, Seizure, Dysmetria OMIM:618251
Spastic Ataxia, Charlevoix-Saguenay Type
Loss of Purkinje cells in the cerebellar vermis, Spasticity, Falls, Decreased motor nerve conduct... OMIM:270550
Dna2-Related Mitochondrial Dna Deletion Syndrome
Difficulty walking, Slender build, Gait disturbance, Hyperlordosis, Congenital ptosis ORPHA:352470
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49