Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
galactosidase, beta 1
Synonyms:
Bgs,  Bge,  Bgt,  Bgl,  Bgl-t,  Bgl-s,  Bgl-e,  C130097A14Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Glb1 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 Glb1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Glb1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neuropathy, Hereditary Sensory, Atypical
Sensory ataxia, Babinski sign, Ataxia OMIM:256860
Cerebellar Degeneration-Related Autoantigen 3
Abnormal cerebellum morphology OMIM:602197
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Episodic Ataxia, Type 1
Episodic ataxia, Tremor, Incoordination, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Abasia, Ataxia OMIM:209100
Spastic Paraplegia 24, Autosomal Recessive
Spastic paraplegia, Clonus, Tip-toe gait, Spasticity OMIM:607584
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired prop... ORPHA:98765
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Somatic sensory dysfunction, Steppage gait, Hand tremor OMIM:300905
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance, Hypertonia ORPHA:256
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Neuhauser-Eichner-Opitz Syndrome
Hypertonia, Rigidity, Ataxia, Spasticity ORPHA:2672
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Cerebellar Ataxia, Cayman Type
Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor, Broad-based gait ORPHA:94122
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Spinocerebellar Ataxia 37
Frequent falls, Unsteady gait, Tremor, Ataxia OMIM:615945
Myoclonus, Familial, 1
Frequent falls, Falls, Myoclonus, Ataxia OMIM:614937
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal sensory impairment, Rigidity OMIM:617018
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign ORPHA:85292
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Pontocerebellar Hypoplasia, Type 12
Hypoplasia of the brainstem, Cerebellar hypoplasia OMIM:618266
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Spasticity ORPHA:217012
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Spinocerebellar Ataxia Type 38
Difficulty walking, Somatic sensory dysfunction, Tremor, Gait ataxia ORPHA:423296
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Abnormal lower motor neuron mo... ORPHA:95434
Spinocerebellar Ataxia Type 23
Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Impaired distal vibration sensation, Bab... ORPHA:101108
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Dystonia, Tremor, Myoclonus OMIM:611092
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Ataxia, Somatic sensory dysfunction, Lower limb spasticity, Unste... ORPHA:101010
Spinocerebellar Ataxia, Autosomal Recessive 17
Unsteady gait, Tremor, Truncal ataxia, Dysmetria OMIM:616127
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
Spinocerebellar Ataxia 48
Tremor, Dystonia, Gait ataxia, Dysphagia, Chorea, Ataxia, Urinary incontinence, Cerebellar atroph... OMIM:618093
Cerebellar Ataxia, Cayman Type
Intention tremor, Gait ataxia, Broad-based gait OMIM:601238
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia OMIM:616410
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebral palsy, Broad-based gait OMIM:605388
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor, Broad-based ... OMIM:616053
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Spinocerebellar Ataxia 17
Dystonia, Gait ataxia, Apraxia, Gliosis, Limb ataxia, Dysphagia, Chorea, Ataxia, Bradykinesia, Ur... OMIM:607136
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Spinocerebellar Ataxia, Autosomal Recessive 27
Gait ataxia, Gliosis, Dysphagia, Cerebral atrophy, Cerebellar atrophy, Torticollis, Frequent fall... OMIM:618369
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia, Ataxia OMIM:617769
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Fo... ORPHA:464440
Glutathionuria
Tremor OMIM:231950
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor,... ORPHA:423275
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Gait disturbance, Tremor, Babinski sign OMIM:300660
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Gliosis, Limb ataxia, Cerebellar hypoplasia, Ataxia, Unstead... OMIM:213200
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... ORPHA:98807
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Intention tremor, Broad-based gait, Nonprogre... OMIM:117360
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Unsteady gait, Lower limb spasticity, Dysmetria,... OMIM:616948
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Unsteady gait, Intention tremor, Frequent falls, Spast... ORPHA:314978
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Dystonia, Tremor, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... ORPHA:251282
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Spasticity OMIM:615768
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Resting tremor, Bradykinesia OMIM:616710
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Difficulty walking, Progressive gait ataxia, Spasticity, Progressive cerebellar ataxi... ORPHA:284332
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Torticollis, Dysmetria, Intention tremor, Babinski sign OMIM:613908
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Incoordination, Pa... OMIM:128230
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi... OMIM:607688
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Br... OMIM:270500
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Hemiparesis, Ataxia, Paralysis, Myoclonus, Babinski sign, Choreoat... OMIM:606777
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign,... OMIM:610245
Autosomal Spastic Paraplegia Type 72
Impaired vibration sensation at ankles, Postural tremor, Spastic gait, Rigidity ORPHA:401849
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Lethargy, Apraxia, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Abnormal erythro... ORPHA:71277
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
Huntington Disease
Gait ataxia, Gliosis, Chorea, Bradykinesia, Cerebellar atrophy, Rigidity, Neuronal loss in centra... OMIM:143100
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Gait ataxia, Tremor, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, ... OMIM:607317
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Unsteady gait, Torticollis, Parkinsonism,... ORPHA:210571
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Myoclonus, Limb dystonia OMIM:614860
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations OMIM:613728
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor, Distal sensory impairment OMIM:615048
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity, Shuffl... ORPHA:306692
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Juvenile Amyotrophic Lateral Sclerosis
Dystonia, Axial dystonia, Hypertonia, Toe walking, Head titubation, Spastic diplegia, Upper limb ... ORPHA:300605
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Progressive extrapyramidal movement disorder, Myoclonus, Ataxia OMIM:612736
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Ataxia OMIM:619333
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Neuronopathy, Distal Hereditary Motor, Type Iib
Difficulty walking, Paralysis OMIM:608634
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Somatic sensory dysfunction, Myo... ORPHA:98763
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Gait disturbance, Degeneration of anterior horn cells, Tetraplegia, Fasciculations, Hand... OMIM:604484
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy OMIM:616192
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Cerebral atrophy, Tetraparesis, Abnormal pyramidal sign, Ataxia, Hepatomegaly, ... OMIM:615924
Leukoencephalopathy, Hereditary Diffuse, With Spheroids
Apraxia, Gliosis, Bradykinesia, Rigidity, Neuronal loss in central nervous system, Shuffling gait... OMIM:221820
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Action tremor, Ataxia, Broad-based gait ORPHA:210128
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Limb tremor, Lower limb spasticity, Spastic gait, Babinski sign, Progressive ... ORPHA:401820
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Dystonia, Apraxia, Neurodegeneration, Ataxia, Cerebellar atrophy, Premature ovarian insuf... OMIM:615889
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Hypoplasia of the brainstem, Cerebellar hypoplasia OMIM:615771
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Developmental And Epileptic Encephalopathy 14
Gliosis, Poor eye contact, Cerebral cortical atrophy, Tetraplegia, Clonus, Neuronal loss in centr... OMIM:614959
Hypermanganesemia With Dystonia 2
Dystonia, Tremor, Gait disturbance, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Orom... OMIM:617013
Frontotemporal Dementia With Motor Neuron Disease
Degeneration of the lateral corticospinal tracts, Apraxia, Gliosis, Global brain atrophy, Abnorma... ORPHA:275872
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Difficulty walking, Limb ataxia, Progr... ORPHA:284324
Primary Dystonia, Dyt2 Type
Torsion dystonia, Tremor, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Dysmetria, Distal sensory impairment, Steppage gait OMIM:618387
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Gait ataxia, Proximal tubulopathy, Aminoaciduria, Weight loss, Cachexia, Failure to thrive OMIM:612075
Christianson Syndrome
Aplasia/Hypoplasia of the cerebellum, Dystonia, Gait ataxia, Truncal ataxia, Dysphagia, Cerebral ... ORPHA:85278
Huntington Disease-Like 2
Dystonia, Chorea, Gait disturbance, Weight loss, Cerebral cortical atrophy, Parkinsonism, Involun... ORPHA:98934
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Gliosis, Incoordination, Chorea, Gait disturbance, Poor fine motor coord... ORPHA:157941
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign OMIM:615362
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Clumsiness, Ataxia, Dysmetria, Intention tremor, Spasticity OMIM:608029
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy, Hemiparesis, Gliosis OMIM:613002
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Pa... OMIM:604326
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Chorea, Gait disturbance, Craniofacial dystonia, Ataxia, Myoclonus, Involuntary movemen... OMIM:617282
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Spinocerebellar Ataxia Type 28
Kinetic tremor, Dystonia, Gait ataxia, Head tremor, Limb ataxia, Parkinsonism, Limb dystonia, Bab... ORPHA:101109
Autosomal Dominant Striatal Neurodegeneration
Dysdiadochokinesis, Gait disturbance, Rigidity, Bradykinesia ORPHA:228169
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Hepatic fibrosis, Hepatomegaly, Cerebellar atrophy, Hepatic failure,... OMIM:616719
Intellectual Developmental Disorder, X-Linked 12
Tremor, Microphallus, Gliosis, Gait disturbance, Cerebellar vermis hypoplasia, Hyperkinetic movem... OMIM:300957
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Dystonia, Gliosis, Dysphagia, Amyotrophic lateral sclerosis, Paralysis, Athetosis OMIM:300857
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Myoclonus, Ataxia OMIM:614018
Riboflavin Transporter Deficiency
Tremor, Dysphagia, Ataxia, Cerebral cortical atrophy, Myoclonus, Cachexia, Hypogonadism ORPHA:97229
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Lethargy, Paralysis OMIM:613710
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Choreoathetosis, Spastic paraparesis, Ataxia ORPHA:67047
Chorea, Benign Hereditary
Chorea, Gait disturbance OMIM:118700
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Gait ataxia, Truncal ataxia, Clumsiness, Slurred speech, Oculomotor apraxia, Unsteady g... ORPHA:453521
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Rigidity, Frequent falls, Chorea, Gait disturbance, Abnormal pyramidal sign, ... ORPHA:216873
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia, Impaired pain sensation ORPHA:101075
Leukodystrophy, Hypomyelinating, 16
Dystonia, Gait ataxia, Hypertonia, Abnormal pyramidal sign, Dysmetria, Intention tremor, Broad-ba... OMIM:617964
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Tremor, Bradykinesia, Ankle clonus, Progressive inability to walk, Parkinsonism, Babins... ORPHA:521406
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Paresthesia, Chorea, Paroxysmal dyskinesia, Ataxia, Lower limb spasti... ORPHA:98811
Aicardi-Goutieres Syndrome 6
Dystonia, Loss of ability to walk, Tremor, Rigidity OMIM:615010
X-Linked Progressive Cerebellar Ataxia
Dysdiadochokinesis, Clumsiness, Progressive gait ataxia, Limb ataxia, Progressive cerebellar atax... ORPHA:1175
Myopathy With Extrapyramidal Signs
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxia OMIM:615673
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Dystonia, Gait ataxia, Tremor, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Bradykinesia, Action tremor, Parkinsonism, Babinski sign OMIM:300423
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Gait ataxia, Paralysis, Progressive cerebellar ataxia, Cerebellar atrophy, Dysmetria, Limb fascic... OMIM:606183
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Impaired tandem gait, Myoclonus, Dysmetria OMIM:619028
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Impaired vibration sensation in ... OMIM:600363
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Truncal ataxia, Ataxia OMIM:617584
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Apraxia, Gliosis, Gait disturbance, Cerebral atrophy, Abnormal upper motor neuron morphology, Uri... OMIM:221770
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Babi... OMIM:609270
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Dystonia With Ringbinden
Gait disturbance, Dystonia, Chorea OMIM:224550
Leukodystrophy, Hypomyelinating, 9
Abnormality of extrapyramidal motor function, Ataxia, Dysmetria, Intention tremor, Spasticity OMIM:616140
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Tremor, Myoclonus OMIM:159900
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Weight loss, Cachexia, Ataxia OMIM:613662
Porphyria, Acute Hepatic
Hemolytic anemia, Paralysis, Respiratory paralysis, Failure to thrive, Elevated urinary delta-ami... OMIM:612740
Monomelic Amyotrophy
Fasciculations, Tremor, Degeneration of anterior horn cells ORPHA:65684
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Huntington Disease
Dystonia, Decreased body mass index, Clumsiness, Poor fine motor coordination, Weight loss, Rigid... ORPHA:399
Pontocerebellar Hypoplasia, Type 4
Gliosis, Hypertonia, Cerebellar hypoplasia, Spasticity, Loss of Purkinje cells in the cerebellar ... OMIM:225753
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Tremor, Ataxia, Impaired pain sensation ORPHA:101078
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Babinski sign, Intention tremor, Dysmetria, Clonus, Nonprogressive cerebellar... OMIM:301310
Machado-Joseph Disease
Urinary bladder sphincter dysfunction, Dystonia, Truncal ataxia, Gliosis, Abnormality of extrapyr... OMIM:109150
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance,... ORPHA:98764
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Gliosis, Abnormality of extrapyramidal motor function, Cerebral atrophy, Abnormal p... ORPHA:204
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Abnorm... OMIM:617225
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Ataxia, Bradykinesia, Weight loss, Progressive cerebellar ataxia, ... ORPHA:248111
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Gait disturbance, Impaired distal vibration sensation, Fasciculations,... ORPHA:276435
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Spinocerebellar Ataxia, X-Linked 3
Unilateral vocal cord paralysis, Lethargy, Incoordination, Gliosis, Dysphagia, Head titubation, C... OMIM:301790
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Dystonia, Tremor, Limb dysmetria, Chorea, Gait disturbance, Abnormal pyramida... OMIM:213600
Leukoencephalopathy With Vanishing White Matter
Lethargy, Gliosis, Gait disturbance, Primary amenorrhea, Unsteady gait, Secondary amenorrhea, Pre... OMIM:603896
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Gait ataxia, Truncal ataxia, Head tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia,... ORPHA:352641
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Unsteady... ORPHA:397946
Neuropathy, Hereditary Motor And Sensory, Russe Type
Difficulty walking, Paralysis OMIM:605285
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Fasciculations, Gait disturbance, Amyotrophic lateral sclerosis OMIM:608030
Myopathy, Spheroid Body
Tremor, Waddling gait, Broad-based gait OMIM:182920
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Overweight, Gliosis, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Cer... ORPHA:457240
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Oculomotor apraxia, Ataxia, Unsteady gait... OMIM:617633
Roussy-Lévy Syndrome
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Difficulty walking, Limb ... ORPHA:3115
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Hemimegalencephaly
Pachygyria, Gliosis, Gray matter heterotopia, Hemiparesis, Polymicrogyria, Abnormal neuron morpho... ORPHA:99802
Progressive Supranuclear Palsy
Tremor, Dystonia, Gliosis, Dysphagia, Blepharospasm, Bradykinesia, Cerebral cortical atrophy, Uns... ORPHA:683
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Astrocytosis, Micronodular cirrhosis, Gliosis, Microvesicular hepatic steatosis, Elevated hepatic... OMIM:203700
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Apraxia, Gliosis, Paraparesis, Cerebral atrophy, Tetraparesis, Abnormal lower motor neuron morpho... OMIM:105550
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Dystonia, Episodic ataxia, Paresthesia, Paroxysmal dyskinesia, Abnormal pyram... ORPHA:53583
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Postural tremor, Impaired vibratory sensation, Gait disturbance, Lower limb s... ORPHA:100988
Combined Oxidative Phosphorylation Deficiency 14
Gliosis, Cerebral atrophy, Aminoaciduria, Thrombocytopenia, Cerebellar atrophy, Myoclonus, Anemia... OMIM:614946
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Myoclonus, Dysmetria, Attention deficit hyperactivity disorder OMIM:619191
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Unsteady gait ORPHA:284271
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
Cerebellar dysplasia, Cerebellar hypoplasia OMIM:616531
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Tremor, Ataxia OMIM:612126
Encephalopathy, Recurrent, Of Childhood
Lethargy, Truncal ataxia, Incoordination, Chorea, Babinski sign, Intention tremor, Athetosis, Cho... OMIM:130950
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Paroxysmal dystonia, Tremor, Myoclonus OMIM:608105
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Tremor, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... OMIM:607671
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia OMIM:612016
Lopes-Maciel-Rodan Syndrome
Tremor, Dystonia, Dysphagia, Hypertonia, Cerebral atrophy, Abnormal pyramidal sign, Bradykinesia,... OMIM:617435
Butyrylcholinesterase Deficiency
Abnormality of the liver, Paralysis ORPHA:132
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Eyelid myoclonus, Abnormal lower motor... ORPHA:2590
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Focal segmental glomerulosclerosis, Dysphagia, Action tremor, Nephr... OMIM:254900
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Fasciculations, Rigidity, Spasticity OMIM:183050
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Cerebral atrophy, Paralysis, Oral-pharyngeal dysphagia OMIM:616286
Pelizaeus-Merzbacher Disease, Connatal Form
Inability to walk, Gliosis, Difficulty walking, Cerebellar hypoplasia, Ataxia, Lower limb spastic... ORPHA:280210
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... ORPHA:53351
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... OMIM:164500
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity, Choreoathetosis, Spasticity OMIM:612716
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Tremor, Myoclonus OMIM:613608
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Atrophy/Degeneration involving the caudate nucleus, Dystonia, Gait ataxia, Basal ga... ORPHA:225154
Parkinson Disease 14, Autosomal Recessive
Dystonia, Apraxia, Clumsiness, Tremor, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:612953
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tremor, Microvesicular hepatic steatosis, Gliosis, Increased hepatocellular lipid droplets, Ataxi... OMIM:220111
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Hypertonia, Myoclonus, Choreoathetosis OMIM:261630
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Ataxia, ... OMIM:616795
Hsd10 Disease
Tremor, Choreoathetosis, Spastic paraparesis, Dysphagia, Gait disturbance, Abnormal social behavi... ORPHA:391417
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Difficulty walking, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus... OMIM:159950
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology ORPHA:1532
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Intellectual Developmental Disorder, X-Linked 104
Tremor, Poor eye contact, Ataxia, Cerebral cortical atrophy, Hyperactivity, Spasticity OMIM:300983
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Chorea, Abnormal pyramidal sign, Ataxia, Bradykinesia, Parkinsonism, Dysmetria OMIM:618317
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Dystonia, Clumsiness, Dysphagia, Chorea, Cerebral atrophy, Poor fine motor coordination, ... ORPHA:79263
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:605909
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Dystonia 16
Postural tremor, Gait disturbance, Abnormal pyramidal sign, Bradykinesia, Laryngeal dystonia, Par... OMIM:612067
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Speech apraxia, Abnormal pyramidal sign, Blepharospasm,... ORPHA:99750
Pleoconial Myopathy With Salt Craving
Salt craving, Paralysis OMIM:262900
Parkinson Disease 1, Autosomal Dominant
Dystonia, Gliosis, Dysphagia, Gait disturbance, Resting tremor, Bradykinesia, Urinary urgency, Pa... OMIM:168601
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Ataxia, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Hereditary Late-Onset Parkinson Disease
Dystonia, Gliosis, Akinesia, Parkinsonism with favorable response to dopaminergic medication, Spa... ORPHA:411602
Spastic Paraplegia 50, Autosomal Recessive
Spastic paraplegia, Gliosis, Cerebellar atrophy, Spastic tetraplegia, Babinski sign, Cerebral palsy OMIM:612936
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Elevated hepatic transaminase, Hepatic steatosis, Ataxia, Hepatomegaly, Decreased liver... ORPHA:42
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Pseudobulbar paralysis, Corpus callosum atrophy, Gliosis, Autonomic erectile dysfunction, Impoten... OMIM:169500
Familial Dyskinesia And Facial Myokymia
Dystonia, Difficulty walking, Chorea, Resting tremor, Limb hypertonia, Myoclonus ORPHA:324588
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Gait disturbance, Ataxia, Impaired pain sensation ORPHA:99014
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Dilated fourth ventricle, Inferior vermis hypoplasia, Elon... ORPHA:370022
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Gliosis OMIM:615119
Spinocerebellar Ataxia Type 21
Tremor, Gait ataxia, Akinesia, Abnormality of extrapyramidal motor function, Progressive cerebell... ORPHA:98773
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Dysdiadochokinesis, Truncal ataxia, Progressive gait ataxia, Slurred speech, Progressive cerebell... ORPHA:352403
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology ORPHA:99852
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Blepharospasm, Torticollis, Upper limb postural tremor, Myoclonus, Limb dystonia, Or... ORPHA:420485
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Dystonia, Basal ganglia gliosis, Gliosis, Cerebellar cyst, Cerebral atrophy, A... ORPHA:79243
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Dystonia, Choreoathetosis, Dysphagia, Hypertonia, Bradykinesia, Ataxia, Parkinsonism, Sma... OMIM:261640
Leigh Syndrome
Dystonia, Hepatocellular necrosis, Gliosis, Ataxia, Failure to thrive, Spasticity OMIM:256000
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Tremor, Ataxia, Bradykinesia, Rigidity OMIM:617836
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia ORPHA:157973
Rabies
Vocal cord paresis, Cerebral palsy, Attention deficit hyperactivity disorder ORPHA:770
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Dysphagia, Resting tremor, Bradykinesia, Craniofacial dystonia, Cerebellar atrophy, ... ORPHA:71517
Pelizaeus-Merzbacher Disease
Dystonia, Gait disturbance, Ataxia, Failure to thrive in infancy, Cerebral cortical atrophy, Cach... ORPHA:702
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Tremor, Spastic paraparesis, Difficulty walking, Gait disturbance, Somatic sen... ORPHA:101077
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Choreoathetosis, Limb ataxia, Blepharospasm, Ata... ORPHA:101
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Dystonia, Abnormality of extrapyramidal motor function, Ataxia, Athetosis OMIM:615159
Pick Disease Of Brain
Stereotypy, Polyphagia, Neuronal loss in central nervous system, Gliosis OMIM:172700
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Lethargy, Ataxia, Hepatomegaly, Impaired T cell function, Failure to thrive, Splenomegaly... OMIM:201100
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Gait ataxia, Difficulty walking, Poor fine motor coordination, Intention tremor, Frequent falls, ... ORPHA:512260
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Dysm... OMIM:614831
Spinocerebellar Ataxia 5
Dysdiadochokinesis, Gait ataxia, Incoordination, Impaired vibratory sensation, Limb ataxia, Inten... OMIM:600224
Galactosemia
Dystonia, Abnormality of extrapyramidal motor function, Speech apraxia, Jaundice, Secondary ameno... ORPHA:352
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait OMIM:614947
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Huntington Disease-Like 2
Dystonia, Chorea, Action tremor, Bradykinesia, Weight loss, Rigidity OMIM:606438
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Cerebellar hypoplasia, Ataxia, Subcortical cerebral atrophy, Cerebral cortica... ORPHA:33445
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Cerebral atr... OMIM:300894
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Lethargy, Ataxia, Bradykinesia OMIM:618683
Spinocerebellar Ataxia 34
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Ataxia, Intention tremor, ... OMIM:133190
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Spinocerebellar Ataxia Type 36
Truncal ataxia, Difficulty walking, Limb ataxia, Head tremor, Ataxia, Tongue fasciculations, Dysm... ORPHA:276198
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, ... ORPHA:240085
Hodgkin Lymphoma
Weight loss, Ataxia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:98293
Neurodegeneration With Brain Iron Accumulation 2A
Gliosis, Cerebral atrophy, Neurodegeneration, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy... OMIM:256600
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Chorea, Myoclonus OMIM:618587
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Dystonia, Gait ataxia, Apraxia, Tremor, Gait disturbance,... ORPHA:3095
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Dystonia, Apraxia, Spastic paraparesis, Incoordination, Cerebral atro... OMIM:615157
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Inability to walk, Global brain atrophy, Hypertonia, Cerebral atrophy, Failure to thrive in infan... OMIM:616801
Spinocerebellar Ataxia 27
Postural tremor, Gait ataxia, Truncal ataxia, Impaired vibratory sensation, Head tremor, Limb ata... OMIM:609307
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Hand tremor, Difficulty walking, Paraparesis, Gait disturbance, Toe walki... OMIM:302800
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Cirrhosis, Poor motor coordination, Hepatic steatosis, Cerebral atrophy, Tet... ORPHA:363400
Dystonia 7, Torsion
Torsion dystonia, Clumsiness, Hand tremor, Blepharospasm, Writer's cramp, Torticollis, Oromandibu... OMIM:602124
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Apraxia, Gait ataxia, Dysmetria, Spasticity OMIM:617810
Kufor-Rakeb Syndrome
Spastic paraplegia, Dystonia, Tremor, Akinesia, Parkinsonism with favorable response to dopaminer... OMIM:606693
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia ORPHA:139436
Spinocerebellar Ataxia 44
Dysdiadochokinesis, Gait ataxia, Ataxia, Dysmetria, Frequent falls, Spasticity OMIM:617691
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Dysdiadochokinesis, Vestibular areflexia, Gait ataxia, Progressive cerebellar ataxia, Dysmetria, ... ORPHA:504476
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Acute Peripheral Arterial Occlusion
Leukocytosis, Paralysis ORPHA:90064
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Dystonia, Gait ataxia, Truncal ataxia, Choreoathetosis, Tremor, Hypertonia, He... OMIM:618877
Neuropathy, Congenital Hypomyelinating, 3
Dystonia, Cerebellar atrophy, Cachexia, Babinski sign, Spasticity OMIM:618186
Mannosidosis, Alpha B, Lysosomal
Gait ataxia, Corpus callosum atrophy, Gliosis, Vacuolated lymphocytes, Limb ataxia, Decreased cir... OMIM:248500
Whipple Disease
Erectile dysfunction, Abnormal pyramidal sign, Ataxia, Hepatomegaly, Myoclonus, Anemia, Splenomeg... ORPHA:3452
Machado-Joseph Disease Type 3
Neurogenic bladder, Dystonia, Clumsiness, Abnormality of extrapyramidal motor function, Progressi... ORPHA:276244
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Gait disturbance, Slurred speech, A... ORPHA:93952
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Gliosis, Hypertonia, Babinski sign, Clonus, Myoclonic spasms, Rigidity, Neuronal loss in central ... OMIM:614498
Congenital Neuronal Ceroid Lipofuscinosis
Pachygyria, Gliosis, Cerebellar hypoplasia, Cerebellar atrophy, Abnormal astrocyte morphology, Sp... ORPHA:168486
Bilateral Frontoparietal Polymicrogyria
Hypoplasia of the brainstem, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Abnormal cerebel... ORPHA:101070
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Choreoathetosis, Tremor, Chorea, Blepharospasm, Ataxia, Bradykinesia, Writer's cramp, L... OMIM:606159
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Dysphagia, Macrovesicul... ORPHA:298
Mu-Heavy Chain Disease
Increased circulating antibody level, Nephropathy, Weight loss, Hepatomegaly, Abnormal B cell cou... ORPHA:100024
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus ORPHA:139485
Spinocerebellar Ataxia Type 19/22
Cogwheel rigidity, Truncal ataxia, Difficulty walking, Limb ataxia, Slurred speech, Poor coordina... ORPHA:98772
Roussy-Levy Hereditary Areflexic Dystasia
Gait ataxia, Upper limb postural tremor, Action tremor, Distal sensory impairment OMIM:180800
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Babinski sign... ORPHA:363654
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Ataxia, Spastic gait, Parkinsonism, Babinski sign, Choreoathetosis, Shuffling gait OMIM:300055
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Tremor, Blepharospasm, Torticollis OMIM:224500
Ataxia-Oculomotor Apraxia 4
Tetraplegia, Dystonia, Oculomotor apraxia, Ataxia OMIM:616267
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Atrophy of the dentate nucleus, Tremor, Truncal ataxia, Aplasia of the inferi... OMIM:610185
Hypermanganesemia With Dystonia 1
Tremor, Dystonia, Cirrhosis, Spastic paraparesis, Elevated hepatic transaminase, Abnormality of e... OMIM:613280
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Tremor, Impaired distal proprioception, Truncal ataxia, Clumsiness, Spastic ataxia, Difficulty wa... ORPHA:137898
Neuronopathy, Distal Hereditary Motor, Type Viib
Vocal cord paralysis, Abnormal lower motor neuron morphology OMIM:607641
Mantle Cell Lymphoma
Weight loss, Lymphadenopathy, Splenomegaly ORPHA:52416
Tay-Sachs Disease
Inability to walk, Dystonia, Tremor, Clumsiness, Gliosis, Incoordination, Global brain atrophy, D... ORPHA:845
Leukodystrophy, Hypomyelinating, 6
Dystonia, Tremor, Rigidity, Ataxia, Choreoathetosis, Spasticity OMIM:612438
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Hypertonia, Babinski sign, Distal sensory impairment, Steppage gait, Spasticity OMIM:609260
Gm2-Gangliosidosis, Ab Variant
Dystonia, Chorea, Hypertonia, Cerebral atrophy, Neurodegeneration, Abnormal pyramidal sign, Paral... OMIM:272750
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombo... ORPHA:824
Dystonia 24
Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor OMIM:615034
X-Linked Adrenoleukodystrophy
Neurogenic bladder, Urinary bladder sphincter dysfunction, Incoordination, Clumsiness, Paraparesi... ORPHA:43
Machado-Joseph Disease Type 1
Neurogenic bladder, Dystonia, Clumsiness, Abnormality of extrapyramidal motor function, Progressi... ORPHA:276238
Machado-Joseph Disease Type 2
Neurogenic bladder, Dystonia, Clumsiness, Abnormality of extrapyramidal motor function, Progressi... ORPHA:276241
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dystonia, Lethargy, Gliosis, Chorea, Cerebral atrophy, Neurodegeneration, Ataxia, Pancytopenia OMIM:618321
X-Linked Creatine Transporter Deficiency
Dystonia, Chorea, Hypertonia, Ataxia, Cachexia, Hyperactivity, Athetosis ORPHA:52503
Gabriele-De Vries Syndrome
Dystonia, Tremor, Waddling gait OMIM:617557
Wilson Disease
Acute hepatitis, Abnormality of the menstrual cycle, Cirrhosis, Clumsiness, Elevated hepatic tran... ORPHA:905
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Dystonia, Tremor, Abnormality of coordination, Gait disturbance, Hypertonia, ... ORPHA:352649
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Tremor, Difficulty walking, Hemiparesis, Bradykinesia, Parkinsonism ORPHA:306669
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Dystonia, Tremor, Difficulty walking, Cerebellar atrophy, Oculogyric crisis, D... ORPHA:330050
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Tremor, Somatic sensory dysfunction, Distal sensory impairment, Limb fascicula... ORPHA:90117
Supranuclear Palsy, Progressive, 1
Tremor, Axial dystonia, Eyelid apraxia, Gliosis, Akinesia, Gait imbalance, Dysphagia, Bradykinesi... OMIM:601104
Microcephaly 10, Primary, Autosomal Recessive
Gliosis, Hypertonia, Cerebral atrophy, Cerebellar atrophy, Small for gestational age, Spasticity OMIM:615095
Spinocerebellar Ataxia Type 17
Dystonia, Chorea, Gait disturbance, Abnormal pyramidal sign, Blepharospasm, Ataxia, Writer's cram... ORPHA:98759
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Resting tremo... ORPHA:401768
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Dystonia, Tremor, Gait disturbance, Hypertonia, Abnormal pyramidal sign, Atax... ORPHA:96
Classic Galactosemia
Dystonia, Clumsiness, Speech apraxia, Jaundice, Secondary amenorrhea, Abnormal erythrocyte enzyme... ORPHA:79239
Parkinsonism-Dystonia, Infantile, 2
Dystonia, Gait ataxia, Tremor, Incoordination, Oculogyric crisis, Parkinsonism, Shuffling gait OMIM:618049
Dopa-Responsive Dystonia
Inability to walk, Tremor, Dystonia, Lethargy, Abnormality of extrapyramidal motor function, Diff... ORPHA:255
Parkinson Disease 21
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:616361
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia OMIM:615041
Moynahan Syndrome
Hypogonadism, Cachexia ORPHA:2574
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Truncal ataxia, C... ORPHA:228360
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Tremor, Difficulty walking, Babinski sign, Broad-based gait ORPHA:477673
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Cerebellar hypoplasia OMIM:604213
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Poor coordination, Cachexia, Renal insufficiency, Proteinuria OMIM:610965
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Gliosis, Abnormality of extrapyramidal motor function, Cerebral atrophy, Myoclonus, Neuronal loss... OMIM:604218
Caribbean Parkinsonism
Dystonia, Apraxia, Progressive gait ataxia, Bradykinesia, Weakness due to upper motor neuron dysf... ORPHA:97355
Supranuclear Palsy, Progressive, 2
Postural tremor, Eyelid apraxia, Axial dystonia, Gliosis, Akinesia, Gait imbalance, Dysphagia, Br... OMIM:609454
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Abnormality of extrapyramidal motor function, Difficulty walking, Head tremor, Abnormal... ORPHA:280219
Neuronal Intranuclear Inclusion Disease
Tremor, Gait disturbance, Ataxia, Somatic sensory dysfunction, Rigidity OMIM:603472
Peroxisome Biogenesis Disorder 5B
Tremor, Oculomotor apraxia, Ataxia, Unsteady gait, Dysmetria OMIM:614867
Horner Syndrome, Congenital
Paralysis OMIM:143000
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi... OMIM:619279
Flynn-Aird Syndrome
Cerebral cortical atrophy, Cachexia, Ataxia ORPHA:2047
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Tremor, Clumsiness, Spastic paraparesis, Impaired tactile sensation, Difficulty walki... ORPHA:206443
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dysmetria, Spasticity ORPHA:1170
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Impaired vibratory sensation, Limb ataxia, Oculomotor apraxi... OMIM:183090
Diencephalic Syndrome
Cachexia, Long penis, Decreased body weight ORPHA:1672
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Frequent falls, Poor fine motor coordination, Inability to walk by childhood/ado... ORPHA:99947
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Dystonia, Spastic paraparesis, Cerebral atrophy, Bradykinesia, Cerebellar atrophy, Parkin... ORPHA:329284
Rett Syndrome
Dystonia, Gait ataxia, Truncal ataxia, Cerebral cortical atrophy, Gait apraxia, Cachexia, Spasticity OMIM:312750
Laryngotracheoesophageal Cleft Type 4
Abnormality of mesentery morphology, Abnormality of the spleen, Cachexia, Abnormal lower motor ne... ORPHA:93941
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Methylmalonic aciduria, Aminoaciduria, Ataxia ORPHA:1933
Leukoencephalopathy With Dystonia And Motor Neuropathy
Head tremor, Torticollis, Abnormal motor neuron morphology, Intention tremor OMIM:613724
Mohr-Tranebjaerg Syndrome
Inability to walk, Dystonia, Tremor, Attention deficit hyperactivity disorder, Apraxia, Global br... ORPHA:52368
Variegate Porphyria
Paralysis, Porphyrinuria OMIM:176200
Leigh Syndrome
Dystonia, Gliosis, Abnormality of extrapyramidal motor function, Spastic diplegia, Neutropenia, A... ORPHA:506
L-2-Hydroxyglutaric Aciduria
Corpus callosum atrophy, Gliosis, Abnormality of extrapyramidal motor function, Global brain atro... OMIM:236792
Wolman Disease
Bone-marrow foam cells, Hepatomegaly, Splenomegaly, Cachexia, Hepatic failure, Anemia ORPHA:75233
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Spastic paraplegia, Tremor, Gait disturbance, Babinski sign, Tetraplegia,... OMIM:616586
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Spinocerebellar Ataxia 8
Tremor, Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
X-Linked Intellectual Disability, Cabezas Type
Tremor, Obesity, Cachexia, Hypoplasia of penis, Hyperactivity, Hypogonadism, Broad-based gait ORPHA:85293
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Dystonia, Gliosis, Microvesicular hepatic steatosis, Small for gestational age, Impaired orophary... ORPHA:404454
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Gait ataxia, Truncal ataxia, Tremor, Limb ataxia, Oculomotor apraxia, Ataxia, Distal se... OMIM:208920
Ataxia-Telangiectasia
Tremor, Elevated hepatic transaminase, Decreased circulating antibody level, Gait disturbance, Ly... ORPHA:100
4H Leukodystrophy
Dysdiadochokinesis, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Progressive g... ORPHA:289494
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Desmoplastic Small Round Cell Tumor
Abnormality of the peritoneum, Weight loss, Hepatomegaly, Cachexia, Anemia, Mediastinal lymphaden... ORPHA:83469
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Distal sensory impairment OMIM:616668
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Spastic tetraparesis, Abnormal pyramidal sign, Ankle clonus, Ataxia, Lower limb spast... OMIM:618598
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Tremor, Gait ataxia, Clumsiness, Global brain atrophy, Senile plaques, Spastic hemi... ORPHA:282166
Cerebrooculofacioskeletal Syndrome 1
Cerebellar hypoplasia, Gliosis, Failure to thrive OMIM:214150
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Lethargy, Choreoathetosis, Tremor, Hyperkinetic movements, Limb hypertonia, Rigidity OMIM:233910
Syngap1-Related Developmental And Epileptic Encephalopathy
Impaired social interactions, Tremor, Gait disturbance, Poor coordination, Ataxia, Abnormal eatin... ORPHA:544254
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Abnormal brainstem morphology ORPHA:255182
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Lower limb spasticity, Parkinsonism, Hyperactivity, Shuffling gait, Broad... ORPHA:3077
Primary Angiitis Of The Central Nervous System
Paraparesis, Tetraparesis, Hemiparesis, Paralysis, Ataxia, Parkinsonism ORPHA:140989
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Dysphagia, Gait disturbance, Toe walking, Weight loss, Opisthotonus, Generaliz... ORPHA:216866
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Fragile X Tremor/Ataxia Syndrome
Dysdiadochokinesis, Postural tremor, Gait ataxia, Poor fine motor coordination, Resting tremor, B... OMIM:300623
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Difficulty walking, Head tremor, Craniofacial dystonia, Writer's cramp, Limb trem... ORPHA:420492
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Aplasia/Hypoplasia of the cerebellum, Tremor, Gait disturbance, Hypertonia, Nephropathy, Cerebral... ORPHA:1192
Dyskinesia, Familial, With Facial Myokymia
Chorea, Dystonia, Limb hypertonia, Resting tremor OMIM:606703
Pelizaeus-Merzbacher Disease
Tremor, Dystonia, Reduction of oligodendroglia, Dysphagia, Progressive spastic quadriplegia, Abno... OMIM:312080
Pontocerebellar Hypoplasia, Type 2A
Gliosis, Cerebellar hypoplasia, Opisthotonus, Cerebral cortical atrophy, Extrapyramidal dyskinesi... OMIM:277470
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Cerebellar vermis hypoplasia, Elongated superior cerebell... OMIM:609583
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Cachexia, Nephropathy, Proteinuria ORPHA:2774
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Ataxia, Myoclonus, Stereotypy OMIM:619092
Majeed Syndrome
Hypochromic microcytic anemia, Leukocytosis, Congenital hypoplastic anemia, Weight loss, Hepatome... ORPHA:77297
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal biliary tract morphology, Abn... ORPHA:3032
Oculopharyngodistal Myopathy
Vocal cord paresis, Difficulty walking, Loss of ability to walk, Weight loss, Oral-pharyngeal dys... ORPHA:98897
Cronkhite-Canada Syndrome
Hepatomegaly, Cachexia, Anemia, Splenomegaly ORPHA:2930
Galactose Epimerase Deficiency
Aminoaciduria, Weight loss, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Classic Hodgkin Lymphoma
Ataxia, Weight loss, Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Jaberi-Elahi Syndrome
Inability to walk, Tremor, Dystonia, Gait ataxia, Cerebellar atrophy, Dysmetria, Failure to thriv... OMIM:617988
Meckel Syndrome 13
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:617562
Spinocerebellar Ataxia 21
Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Akinesia, Abnormality of extrapyramida... OMIM:607454
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Lacticaciduria, Gliosis, Elevated hepatic transaminase, Gray matter heterotopi... ORPHA:26791
Spinocerebellar Ataxia Type 10
Dysdiadochokinesis, Kinetic tremor, Gait ataxia, Progressive cerebellar ataxia, Unsteady gait, Lo... ORPHA:98761
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Hypochromic microcytic anemia, Gliosis, Cerebellar hypoplasia, Head titubat... ORPHA:3240
Developmental And Epileptic Encephalopathy 42
Athetosis, Hypertonia, Tremor, Ataxia OMIM:617106
Parkinson Disease 20, Early-Onset
Dystonia, Eyelid apraxia, Tremor, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait OMIM:615530
Spinocerebellar Ataxia Type 42
Gait ataxia, Head tremor, Dysphagia, Resting tremor, Impotence, Urinary incontinence, Urinary urg... ORPHA:458803
Joubert Syndrome 30
Cerebellar atrophy, Molar tooth sign on MRI, Dandy-Walker malformation, Superior cerebellar dyspl... OMIM:617622
Spinocerebellar Ataxia Type 18
Gait ataxia, Head tremor, Somatic sensory dysfunction, Titubation, Dysmetria ORPHA:98771
Gm1-Gangliosidosis, Type Ii
Gait disturbance, Spastic tetraplegia, Ataxia OMIM:230600
Carcinoma Of Esophagus
Dysphagia, Weight loss, Lymphadenopathy, Obesity ORPHA:70482
3-Methylglutaconic Aciduria, Type Viii
Tremor, Dystonia, Hypertonia, Cerebral atrophy, Neutropenia, 3-Methylglutaconic aciduria OMIM:617248
Classic Progressive Supranuclear Palsy Syndrome
Dystonia, Axial dystonia, Tremor, Akinesia, Parkinsonism with favorable response to dopaminergic ... ORPHA:240071
Gerstmann-Straussler Disease
Tremor, Gait ataxia, Truncal ataxia, Apraxia, Limb ataxia, Bradykinesia, Weight loss, Cerebellar ... OMIM:137440
Trisomy X
Tremor, Secondary amenorrhea, Attention deficit hyperactivity disorder, Multicystic kidney dysplasia ORPHA:3375
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Brain atrophy, Stereotypy, Hyperactivity, Spasticity OMIM:618718
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Dystonia, Lethargy, Gait ataxia, Cogwheel rigidity, Chorea, Hypertonia, Abnorm... OMIM:607483
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Japanese Encephalitis
Pill-rolling tremor, Tremor, Dystonia, Cogwheel rigidity, Increased circulating IgM level, Abnorm... ORPHA:79139
Aredyld Syndrome
Hepatomegaly, Splenomegaly, Cachexia, Abnormality of the ureter ORPHA:1133
Parkinson Disease, Late-Onset
Dystonia, Tremor, Dysphagia, Resting tremor, Bradykinesia, Urinary urgency, Parkinsonism, Short s... OMIM:168600
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Multiple System Atrophy
Postural tremor, Axial dystonia, Gait ataxia, Abnormal pyramidal sign, Resting tremor, Bradykines... ORPHA:102
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Inability to walk, Gliosis, Upper limb spasticity, Ataxia, Urinary incontinence, Cerebellar atrop... OMIM:617193
Spinocerebellar Ataxia Type 3
Dystonia, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Prog... ORPHA:98757
Crigler-Najjar Syndrome Type 1
Prolonged neonatal jaundice, Tremor, Abnormality of the liver, Biliary tract abnormality ORPHA:79234
Spontaneous Periodic Hypothermia
Gait disturbance, Tremor, Ataxia ORPHA:29822
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal brainstem MRI signal intensity ORPHA:263410
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Abnormality of coordination, Difficulty walking, Cerebral atrophy, Ataxia, Brain atrophy,... ORPHA:442835
Combined Oxidative Phosphorylation Deficiency 24
Gliosis, Focal segmental glomerulosclerosis, Neurodegeneration, Cerebellar atrophy, Neuronal loss... OMIM:616239
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tremor, Gait disturbance, Cerebral atrophy, Toe walking, Babinski sign, Abnor... ORPHA:83629
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Familial Acute Necrotizing Encephalopathy
Gliosis, Gait disturbance, Hypertonia, Spastic tetraplegia, Rigidity, Spasticity ORPHA:88619
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Hypertonia, Ataxia, Myoclonus, Dysmetria, Intention tremor, Babinski sign, S... OMIM:616505
Mast Cell Sarcoma
Weight loss, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the brainstem, Cerebellar cyst, Cerebellar dysplasia, Cerebellar hypoplasia, Dandy-... OMIM:613153
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Multiple System Atrophy, Cerebellar Type
Postural tremor, Axial dystonia, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Resting tremo... ORPHA:227510
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Dysdiadochokinesis, Gait ataxia, Akinesia, Abnormal vestibulo-ocular reflex, Resting tremor, Atax... ORPHA:247234
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Difficulty walking, Oculomotor apraxia, Dysmetria, Spasticity ORPHA:529665
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Sialidosis Type 2
Tremor, Nephropathy, Ataxia, Hepatomegaly, Splenomegaly ORPHA:87876
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Bradykinesia, Oculogyric crisis, Limb hypertonia, Small for gestational age, Ri... ORPHA:70594
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Weight loss, Lymphadenopathy, Splenomegaly ORPHA:86893
Mcdonough Syndrome
Cachexia ORPHA:2471
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Myoclonus, Ataxia OMIM:607876
Cerebrotendinous Xanthomatosis
Dystonia, Gliosis, Global brain atrophy, Palatal myoclonus, Abnormality of extrapyramidal motor f... ORPHA:909
Cockayne Syndrome
Neurogenic bladder, Gliosis, Hypertonia, Renal insufficiency, Spasticity, Unilateral renal agenes... ORPHA:191
Adducted Thumbs Syndrome
Dysphagia, Myelin-dependent gliosis OMIM:201550
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spastic paraplegia, Azoospermia, Limb ataxia, Hypertonia, Oculomotor apraxia, Paralysis, Cholelit... ORPHA:2072
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Tremor, Gait ataxia, Polymicrogyria, Cerebellar vermis atrophy, Hyperactivity,... OMIM:300354
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Lissencephaly, X-Linked, 2
Pachygyria, Gliosis, Micropenis, Lissencephaly, Spasticity OMIM:300215
Marburg Hemorrhagic Fever
Lethargy, Hematuria, Elevated hepatic transaminase, Menometrorrhagia, Weight loss, Thrombocytopen... ORPHA:99826
Immunodeficiency 27A
Increased circulating IgM level, Thrombocytosis, Leukocytosis, Weight loss, Histiocytosis, Increa... OMIM:209950