Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cathepsin F
Synonyms:
N/A

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 Ctsf 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 Ctsf by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign OMIM:615362

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Abnormal lower motor neuron mo... ORPHA:95434
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Abnormal upper motor neuron morphology, Spastic gait, Babinski sign, Spasti... OMIM:611637
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Gliosis, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Spas... OMIM:213200
Juvenile Primary Lateral Sclerosis
Spastic tetraparesis, Abnormal pyramidal sign, Abnormal upper motor neuron morphology, Spastic ga... ORPHA:247604
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Dystonia, Chorea, Ataxia, Parkinsonism, Cachexia, Dysmetria, Babinski sign OMIM:618093
Frontotemporal Dementia With Motor Neuron Disease
Apraxia, Gliosis, Abnormality of extrapyramidal motor function, Paraparesis, Tetraparesis, Abnorm... ORPHA:275872
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Gait disturbance, Degeneration of anterior horn cells, Distal sensory impairment, Tetrap... OMIM:604484
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Autosomal Recessive Spastic Paraplegia Type 43
Impaired vibratory sensation, Spastic paraparesis, Difficulty walking, Poor fine motor coordinati... ORPHA:320370
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Apraxia, Gliosis, Paraparesis, Tetraparesis, Abnormal lower motor neuron morphology, Amyotrophic ... OMIM:105550
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Gait disturbance, Ataxia, Impaired pain sensation ORPHA:99014
Huntington Disease-Like 2
Dystonia, Chorea, Gait disturbance, Weight loss, Parkinsonism, Involuntary movements ORPHA:98934
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal sensory impairment, Rigidity OMIM:617018
Amyotrophic Lateral Sclerosis 4, Juvenile
Difficulty walking, Abnormal lower motor neuron morphology, Degeneration of anterior horn cells, ... OMIM:602433
Spastic Paraparesis-Deafness Syndrome
Spastic paraparesis, Gait disturbance, Ataxia, Hemiplegia/hemiparesis, Impaired pain sensation ORPHA:2815
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Gait ataxia, Cachexia, Weight loss OMIM:612075
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Gait ataxia, Apraxia, Gliosis, Limb ataxia, Chorea, Ataxia, Brad... OMIM:607136
Amyotrophic Lateral Sclerosis 2, Juvenile
Dystonia, Upper limb spasticity, Spastic tetraparesis, Abnormal lower motor neuron morphology, Sp... OMIM:205100
Alpers-Huttenlocher Syndrome
Spastic paraparesis, Paraparesis, Ataxia, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... ORPHA:726
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Frequent falls, Difficulty walking, Paraparesis, Gait disturbance, Toe wa... OMIM:302800
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Gait disturbance, Tremor, Babinski sign OMIM:300660
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor,... ORPHA:423275
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor, Broad-based ... OMIM:616053
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired pain sensation, Impaired vibratory sensation, Impaired temperature sensation, Abnormal m... DECIPHER:29
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Spastic paraparesis, Babinski sign OMIM:613672
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Dystonia, Akinesia, Parkinsonism with favorable response to dopaminer... OMIM:606693
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Spasticity ORPHA:217012
Spinocerebellar Ataxia, Autosomal Recessive 27
Gait ataxia, Gliosis, Torticollis, Frequent falls, Spasticity OMIM:618369
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Myelopathy, Htlv-1-Associated
Myelopathy, Abnormal pyramidal sign, Spastic paraparesis OMIM:159580
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Spinocerebellar Ataxia Type 38
Difficulty walking, Somatic sensory dysfunction, Tremor, Gait ataxia ORPHA:423296
Mast Syndrome
Spastic paraplegia, Apraxia, Spastic paraparesis, Gait disturbance, Babinski sign OMIM:248900
Huntington Disease
Gait ataxia, Gliosis, Chorea, Bradykinesia, Rigidity OMIM:143100
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Weight loss, Cachexia, Ataxia OMIM:613662
Juvenile Amyotrophic Lateral Sclerosis
Inability to walk, Dystonia, Axial dystonia, Difficulty walking, Chorea, Hypertonia, Upper limb s... ORPHA:300605
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Action tremor, Ataxia, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... ORPHA:251282
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Huntington Disease-Like 2
Dystonia, Chorea, Weight loss, Action tremor, Bradykinesia, Rigidity OMIM:606438
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Steppage gait, Paraparesis, Distal sensory impairment OMIM:302802
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy, Hemiparesis, Gliosis OMIM:613002
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Substantia nigra gliosis, Rigidity OMIM:600116
Primary Lateral Sclerosis, Juvenile
Spastic tetraparesis, Spasticity of pharyngeal muscles, Abnormal upper motor neuron morphology, S... OMIM:606353
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Dystonia, Lethargy, Gait ataxia, Cogwheel rigidity, Chorea, Hypertonia, Abnorm... OMIM:607483
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Leukoencephalopathy, Hereditary Diffuse, With Spheroids
Apraxia, Gliosis, Bradykinesia, Rigidity, Shuffling gait, Spasticity OMIM:221820
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Gliosis, Incoordination, Chorea, Gait disturbance, Poor fine motor coord... ORPHA:157941
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor, Distal sensory impairment OMIM:615048
Mental Retardation, Autosomal Dominant 56
Paraparesis, Attention deficit hyperactivity disorder, Ataxia, Spasticity OMIM:617854
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Dystonia, Gliosis, Amyotrophic lateral sclerosis, Paralysis, Athetosis OMIM:300857
Primary Lateral Sclerosis
Cervical spinal cord atrophy, Atrophy of the spinal cord, Weakness due to upper motor neuron dysf... ORPHA:35689
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Ataxia, Bradykinesia, Weight loss, Progressive cerebellar ataxia, ... ORPHA:248111
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Dystonia 3, Torsion, X-Linked
Tremor, Torsion dystonia, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Polyglucosan Body Neuropathy, Adult Form
Spastic paraplegia, Paresthesia, Gait disturbance, Tetraparesis, Abnormal upper motor neuron morp... OMIM:263570
Paraparetic Variant Of Guillain-Barré Syndrome
Impaired distal proprioception, Paraparesis ORPHA:231445
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Choreoathetosis, Spastic paraparesis, Ataxia ORPHA:67047
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Incoordination, Pa... OMIM:128230
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Dystonia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, ... OMIM:607317
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Developmental And Epileptic Encephalopathy 14
Tetraplegia, Clonus, Gliosis, Spasticity OMIM:614959
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Dystonia, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Spastic Paraplegia 2, X-Linked
Spastic paraplegia, Spastic paraparesis, Spinocerebellar tract degeneration, Lower limb spasticit... OMIM:312920
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Eyelid myoclonus, Abnormal lower motor... ORPHA:2590
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Spasticity OMIM:615768
Leukoencephalopathy With Dystonia And Motor Neuropathy
Head tremor, Torticollis, Abnormal motor neuron morphology, Intention tremor OMIM:613724
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus, Dystonia OMIM:611092
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... ORPHA:98807
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Gliosis, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ata... ORPHA:204
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Dystonia, Ataxia, Spasticity OMIM:615889
Parkinson Disease 19A, Juvenile-Onset
Tremor, Dystonia, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Spastic Paraplegia, Epilepsy, And Mental Retardation
Spastic paraplegia, Spastic paraparesis OMIM:182610
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Basal ganglia gliosis, Dystonia, Gait ataxia, Rigidity, Cogwheel rigidity, Gait dis... ORPHA:225154
Riboflavin Transporter Deficiency
Myoclonus, Tremor, Cachexia, Ataxia ORPHA:97229
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Apraxia, Gliosis, Gait disturbance, Abnormal upper motor neuron morphology, Myoclonus, Babinski s... OMIM:221770
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Li... ORPHA:464440
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Hyperactivity, Spasti... OMIM:615924
Machado-Joseph Disease
Dystonia, Truncal ataxia, Gliosis, Impaired vibratory sensation, Abnormality of extrapyramidal mo... OMIM:109150
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Spasticity, Ankle clonus, Dysmetria, Babin... OMIM:270500
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Tremor, Spastic paraparesis, Difficulty walking, Gait disturbance, Somatic sen... ORPHA:101077
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Tremor, Truncal ataxia, Unsteady gait OMIM:616127
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Intellectual Developmental Disorder, X-Linked 12
Tremor, Gliosis, Gait disturbance, Hyperkinetic movements, Truncal obesity, Small for gestational... OMIM:300957
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Impaired vibration sensation in ... OMIM:600363
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Failure to thrive, Ataxia OMIM:618951
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Rigidity, Frequent falls, Chorea, Gait disturbance, Abnormal pyramidal sign, ... ORPHA:216873
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal pyramidal sign, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, B... OMIM:602099
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:614373
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Glutathionuria
Tremor OMIM:231950
Pelizaeus-Merzbacher Disease, Connatal Form
Inability to walk, Gliosis, Difficulty walking, Ataxia, Lower limb spasticity, Titubation, Failur... ORPHA:280210
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Christianson Syndrome
Dystonia, Gait ataxia, Truncal ataxia, Cachexia, Stereotypy ORPHA:85278
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Dysmetria, Bab... OMIM:610245
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Dystonia, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Unsteady gait, Intention tremor, Frequent falls, Spast... ORPHA:314978
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Autosomal Dominant Spastic Paraplegia Type 73
Difficulty walking, Lower limb spasticity, Spastic gait, Impaired vibration sensation in the lowe... ORPHA:444099
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign OMIM:615362
Pontocerebellar Hypoplasia, Type 4
Myoclonus, Hypertonia, Gliosis, Spasticity OMIM:225753
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Neuronopathy, Distal Hereditary Motor, Type Viib
Vocal cord paralysis, Abnormal lower motor neuron morphology OMIM:607641
Boucher-Neuhauser Syndrome
Gait ataxia, Ataxia, Abnormal upper motor neuron morphology, Intention tremor, Spasticity OMIM:215470
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Dystonia, Rigidity, Hypertonia, Bradykinesia, Ataxia, Small for gestational age, Parkinso... OMIM:261640
Pelizaeus-Merzbacher Disease
Dystonia, Gait disturbance, Ataxia, Failure to thrive in infancy, Cachexia, Choreoathetosis, Spas... ORPHA:702
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Abnorm... OMIM:617225
Primary Angiitis Of The Central Nervous System
Paraparesis, Tetraparesis, Hemiparesis, Paralysis, Ataxia, Parkinsonism ORPHA:140989
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Myo... ORPHA:98763
Hypermanganesemia With Dystonia 2
Tremor, Dystonia, Gait disturbance, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Orom... OMIM:617013
X-Linked Adrenoleukodystrophy
Incoordination, Clumsiness, Paraparesis, Gait disturbance, Hemiparesis, Paralysis, Somatic sensor... ORPHA:43
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Overweight, Gliosis, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Ste... ORPHA:457240
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia ORPHA:157973
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Gait disturbance, Impaired distal vibration sensation, Fasciculations,... ORPHA:276435
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity, Shuffl... ORPHA:306692
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Spinocerebellar Ataxia Type 28
Kinetic tremor, Gait ataxia, Dystonia, Head tremor, Limb ataxia, Parkinsonism, Limb dystonia, Bab... ORPHA:101109
Spastic Paraplegia 50, Autosomal Recessive
Spastic paraplegia, Gliosis, Spastic tetraplegia, Babinski sign, Cerebral palsy OMIM:612936
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait, Obesity OMIM:614947
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Dystonia, Ataxia, Abnormal upper motor neuron morphology, Dysmetria, Babinski si... OMIM:607694
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Isaac Syndrome
Fasciculations, Weight loss, Distal sensory impairment ORPHA:84142
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Spastic paraparesis, Gait disturbance, Toe walking, Bradykinesia, Spastic tetraplegia, ... OMIM:615643
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Myoclonus, Limb dystonia OMIM:614860
X-Linked Creatine Transporter Deficiency
Dystonia, Chorea, Hypertonia, Ataxia, Cachexia, Hyperactivity, Athetosis ORPHA:52503
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Postural tremor, Impaired vibratory sensation, Gait disturbance, Lower limb s... ORPHA:100988
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Dystonia, Bradykinesia, Ankle clonus, Progressive inability to walk, Parkinsonism, Babins... ORPHA:521406
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Dysmetria, Distal sensory impairment, Steppage gait OMIM:618387
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Mulibrey Nanism
Cachexia ORPHA:2576
Autosomal Recessive Spastic Paraplegia Type 25
Spastic paraplegia, Paraparesis ORPHA:101005
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy, Paraparesis, Tetraparesis, Ataxia, Choreoathetosis ORPHA:27
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Intention tremor OMIM:302500
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Spastic paraparesis, Progressive gait ataxia, Lower limb hypertonia, Progressive cerebellar ataxi... ORPHA:254343
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Tremor, Difficulty walking, Failure to thrive, Babinski sign, Broad-based gait ORPHA:477673
Hemimegalencephaly
Myoclonus, Hemiparesis, Abnormal neuron morphology, Gliosis ORPHA:99802
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Resting tremor, Bradykinesia OMIM:616710
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Torticollis, Unsteady gait, Parkinsonism,... ORPHA:210571
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia, Impaired pain sensation ORPHA:101075
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Huntington Disease
Inability to walk, Dystonia, Decreased body mass index, Clumsiness, Difficulty walking, Chorea, G... ORPHA:399
Adrenoleukodystrophy
Spastic paraplegia, Incoordination, Truncal ataxia, Impaired vibration sensation at ankles, Limb ... OMIM:300100
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Progressive spastic paraparesis, Spastic tetraparesis ORPHA:496756
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Gait disturbance, Ataxia, Myoclonus, Choreoathetosis ORPHA:391417
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Dystonia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Bradykinesia... OMIM:300894
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Gait ataxia, Truncal ataxia, Head tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia,... ORPHA:352641
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Dystonia, Hypertonia, Myoclonus, Choreoathetosis OMIM:261630
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tremor, Failure to thrive, Gliosis, Ataxia OMIM:220111
Leukoencephalopathy With Vanishing White Matter
Lethargy, Gliosis, Gait disturbance, Unsteady gait, Spasticity OMIM:603896
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Myoclonus, Gliosis, Distal sensory impairment, Abnormality of extrapyramidal motor function OMIM:604218
Pulmonary Blastoma
Weight loss ORPHA:64741
Leigh Syndrome
Dystonia, Gliosis, Ataxia, Failure to thrive, Spasticity OMIM:256000
Parkinson Disease 1, Autosomal Dominant
Dystonia, Gliosis, Gait disturbance, Resting tremor, Bradykinesia, Parkinsonism, Myoclonus, Rigid... OMIM:168601
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Myopathy With Extrapyramidal Signs
Tremor, Dystonia, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxia OMIM:615673
Spastic Paraplegia 20, Autosomal Recessive
Spastic paraplegia, Spastic paraparesis, Difficulty walking, Upper limb spasticity, Knee clonus, ... OMIM:275900
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi... OMIM:607688
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Impaired tandem gait, Myoclonus, Dysmetria OMIM:619028
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Gliosis, Hypertonia, Babinski sign, Clonus, Myoclonic spasms, Rigidity OMIM:614498
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Difficulty walking, Waddling gait, Abnormal lower motor neuron morphology OMIM:611067
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ability to walk, Rigidity, Dystonia OMIM:615010
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Pa... OMIM:604326
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Dystonia 11, Myoclonic
Writer's cramp, Tremor, Myoclonus, Torticollis OMIM:159900
Congenital Arthrogryposis With Anterior Horn Cell Disease
Inability to walk, Abnormal anterior horn cell morphology, Dystonia, Difficulty walking, Paucity ... OMIM:611890
Spastic Paraplegia 35, Autosomal Recessive
Spastic paraplegia, Dystonia, Spastic paraparesis, Difficulty walking, Spastic tetraparesis, Atax... OMIM:612319
Hereditary Late-Onset Parkinson Disease
Dystonia, Gliosis, Akinesia, Parkinsonism with favorable response to dopaminergic medication, Res... ORPHA:411602
Huntington Disease-Like 1
Basal ganglia gliosis, Incoordination, Chorea, Unsteady gait, Dysmetria, Rigidity OMIM:603218
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Difficulty walking, Progressive gait a... ORPHA:284324
Myopathy, Spheroid Body
Tremor, Waddling gait, Broad-based gait OMIM:182920
Moynahan Syndrome
Cachexia ORPHA:2574
Spinocerebellar Ataxia, X-Linked 3
Unilateral vocal cord paralysis, Lethargy, Incoordination, Gliosis, Head titubation, Dysmetria, I... OMIM:301790
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Difficulty walking, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus... OMIM:159950
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Progressive Supranuclear Palsy
Tremor, Dystonia, Gliosis, Blepharospasm, Bradykinesia, Unsteady gait, Falls, Rigidity ORPHA:683
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Microcephaly 10, Primary, Autosomal Recessive
Hypertonia, Small for gestational age, Gliosis, Spasticity OMIM:615095
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Babinski sign... ORPHA:363654
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Myoclonus, Ataxia OMIM:614018
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Tremor, Ataxia, Impaired pain sensation ORPHA:101078
Gerstmann-Straussler Disease
Tremor, Gait ataxia, Truncal ataxia, Apraxia, Limb ataxia, Bradykinesia, Weight loss, Parkinsonis... OMIM:137440
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Difficulty walking, Paraparesis, Ataxia, Meningocele, Opisthotonus, Somatic sen... ORPHA:1136
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Tremor, Clumsiness, Spastic paraparesis, Impaired tactile sensation, Difficulty walki... ORPHA:206443
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Dystonia, Apraxia, Spastic paraparesis, Incoordination, Ataxia, Brady... OMIM:615157
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Amyotrophic lateral sclerosis, Parkinsonism, Abnormal lower motor neuron morphology, Paralysis OMIM:105500
Flynn-Aird Syndrome
Cachexia, Ataxia, Impaired pain sensation ORPHA:2047
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Ataxia ORPHA:1933
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Action tremor, Bradykinesia, Parkinsonism, Babinski sign OMIM:300423
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Distal sensory impairment, Frequent falls, Spasticity OMIM:616719
Machado-Joseph Disease Type 3
Dystonia, Clumsiness, Spinocerebellar tract degeneration, Abnormality of extrapyramidal motor fun... ORPHA:276244
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Overweight, Abnormality of extrapyramidal motor function, Paraparesis, Gait di... ORPHA:2822
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Hypertonia, Cachexia ORPHA:1389
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Tremor, Dystonia, Gait ataxia, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Gait disturbance, Slurred speech, A... ORPHA:93952
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Hypertonia, Distal sensory impairment, Babinski sign, Steppage gait, Spasticity OMIM:609260
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Inability to walk, Hypertonia, Failure to thrive in infancy, Cachexia, Spasticity OMIM:616801
Monomelic Amyotrophy
Fasciculations, Tremor, Degeneration of anterior horn cells ORPHA:65684
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia OMIM:612016
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... OMIM:164500
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Torticol... ORPHA:397946
Peroxisome Biogenesis Disorder 8B
Spastic paraparesis, Ataxia, Dysmetria, Failure to thrive, Spasticity OMIM:614877
Leukodystrophy, Hypomyelinating, 2
Dystonia, Rigidity, Spastic paraparesis, Head titubation, Ataxia, Babinski sign, Intention tremor... OMIM:608804
Tuberculosis
Weight loss ORPHA:3389
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive spasticity, Tremor, Truncal ataxia, Clumsiness, Spastic ataxia, Difficulty walking, H... ORPHA:137898
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Dystonia, Limb dysmetria, Chorea, Gait disturbance, Abnormal pyramida... OMIM:213600
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Rett Syndrome
Dystonia, Gait ataxia, Truncal ataxia, Gait apraxia, Cachexia, Spasticity OMIM:312750
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Fasciculations, Gait disturbance, Amyotrophic lateral sclerosis OMIM:608030
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Intellectual Developmental Disorder, X-Linked 104
Tremor, Spasticity, Ataxia, Hyperactivity OMIM:300983
Parkinson Disease 14, Autosomal Recessive
Tremor, Dystonia, Clumsiness, Apraxia, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:612953
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Neuropathy, Congenital Hypomyelinating, 3
Dystonia, Cachexia, Babinski sign, Spasticity OMIM:618186
Spastic Paralysis, Infantile-Onset Ascending
Spastic paraplegia, Abnormal lower motor neuron morphology, Spastic tetraplegia, Babinski sign, T... OMIM:607225
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait ORPHA:210128
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Dystonia, Spastic paraparesis, Bradykinesia, Parkinsonism, Rigidity ORPHA:329284
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Gait disturbance, Toe walking, Weight loss, Opisthotonus, Generalized dystonia... ORPHA:216866
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Oculomotor apraxia, Ataxia, Hyperactivity, Choreoathetosis, Spasticity OMIM:612716
Developmental And Epileptic Encephalopathy 82
Inability to walk, Spastic tetraplegia, Spastic paraparesis, Decreased body weight OMIM:618721
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Dystonia, Gait ataxia, Apraxia, Gait disturbance,... ORPHA:3095
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Dystonia, Basal ganglia gliosis, Gliosis, Ataxia, Small for gestational age, C... ORPHA:79243
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Primary Dystonia, Dyt2 Type
Tremor, Torsion dystonia, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Ataxia, ... OMIM:616795
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Frequent falls, Spastic paraparesis, Gait disturbance, Bradykinesia, Parkinsonism, Babi... ORPHA:289560
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Tetraplegia/tetraparesis, Progressive spastic paraparesis, Ankle clonus, Babinski sign, Upper mot... ORPHA:506353
Progressive Non-Fluent Aphasia
Astrocytosis, Apraxia, Abnormality of extrapyramidal motor function, Abnormal lower motor neuron ... ORPHA:100070
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Pelizaeus-Merzbacher Disease
Tremor, Dystonia, Reduction of oligodendroglia, Progressive spastic quadriplegia, Abnormal pyrami... OMIM:312080
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance,... ORPHA:98764
Pick Disease Of Brain
Gliosis, Stereotypy OMIM:172700
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Ataxia, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Tremor, Somatic sensory dysfunction, Distal sensory impairment, Limb fascicula... ORPHA:90117
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Babi... OMIM:609270
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Tremor, Myoclonus, Writer's cramp OMIM:608105
Spastic Paraplegia 9A, Autosomal Dominant
Spastic paraplegia, Impaired vibratory sensation, Gait disturbance, Dysfunction of lateral cortic... OMIM:601162
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Palatal myoclonus, Truncal ataxia, Spastic paraparesis, Atrophy of the spinal cord OMIM:113610
Spinal Arteriovenous Metameric Syndrome
Paraparesis, Spinal arteriovenous malformation, Abnormality of the spinal cord ORPHA:53721
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... ORPHA:53351
Perry Syndrome
Tremor, Parkinsonism, Weight loss, Abnormality of extrapyramidal motor function ORPHA:178509
Glut1 Deficiency Syndrome 2
Tremor, Choreoathetosis, Ataxia, Dystonia OMIM:612126
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Dystonia, Bradykinesia, Ataxia, Rigidity OMIM:617836
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis OMIM:615119
Hodgkin Lymphoma
Weight loss, Ataxia ORPHA:98293
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Ataxia, Rigidity, Spasticity ORPHA:33445
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Tremor, Myoclonus OMIM:613608
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology, Waddling gait, Upper motor neuro... ORPHA:52430
Gabriele-De Vries Syndrome
Tremor, Waddling gait, Dystonia OMIM:617557
Lopes-Maciel-Rodan Syndrome
Tremor, Dystonia, Hypertonia, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Unsteady gait,... OMIM:617435
Neurodegeneration With Brain Iron Accumulation 2A
Gliosis, Abnormal pyramidal sign, Ataxia, Unsteady gait, Spastic tetraplegia OMIM:256600
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Speech apraxia, Abnormal pyramidal sign, Blepharospasm,... ORPHA:99750
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spastic ataxia, Oculomotor apraxia, Ataxia, My... OMIM:614487
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Obesity, Lower limb spasticity, Parkinsonism, Hyperactivity, Shuffling ga... ORPHA:3077
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Xfe Progeroid Syndrome
Poor coordination, Cachexia OMIM:610965
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Gait ataxia, Apraxia, Dysmetria, Spasticity OMIM:617810
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, ... ORPHA:240085
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Bradykinesia, Craniofacial dystonia, Torticollis, Parkinsonism, Limb... ORPHA:71517
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Dystonia, Clumsiness, Chorea, Poor fine motor coordination, Ataxia, Unsteady gait, Myoclo... ORPHA:79263
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Cachexia, Ataxia ORPHA:42
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Chorea, Myoclonus OMIM:618587
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Pseudobulbar paralysis, Gliosis, Ataxia, Babinski sign, Spasticity OMIM:169500
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Dystonia, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus ORPHA:139485
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:605909
Caribbean Parkinsonism
Dystonia, Apraxia, Progressive gait ataxia, Action tremor, Bradykinesia, Weakness due to upper mo... ORPHA:97355
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Dysm... OMIM:614831
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Impaired vibratory sensation, Spinocerebellar tract degenera... OMIM:183090
Familial Dyskinesia And Facial Myokymia
Dystonia, Difficulty walking, Chorea, Resting tremor, Limb hypertonia, Myoclonus ORPHA:324588
Neurodegeneration With Brain Iron Accumulation 4
Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait disturbance, Abnormal lower ... OMIM:614298
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Leukodystrophy, Hypomyelinating, 6
Tremor, Dystonia, Rigidity, Ataxia, Choreoathetosis, Spasticity OMIM:612438
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Parkinsonism, Babinski sign, Ataxia OMIM:615911
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Cachexia ORPHA:93941
Perry Syndrome
Tremor, Dystonia, Akinesia, Bradykinesia, Weight loss, Parkinsonism, Short stepped shuffling gait... OMIM:168605
Tay-Sachs Disease
Inability to walk, Tremor, Dystonia, Clumsiness, Gliosis, Incoordination, Gait disturbance, Poor ... ORPHA:845
Cerebrooculofacioskeletal Syndrome 1
Gliosis, Failure to thrive OMIM:214150
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Ataxia, Spastic gait, Parkinsonism, Babinski sign, Choreoathetosis, Shuffling gait OMIM:300055
Cerebrotendinous Xanthomatosis
Dystonia, Gliosis, Spastic paraparesis, Abnormality of extrapyramidal motor function, Palatal myo... ORPHA:909
Gaucher Disease, Type Iii
Decreased body weight, Myoclonus, Spastic paraparesis, Ataxia OMIM:231000
Congenital Neuronal Ceroid Lipofuscinosis
Gliosis, Abnormal astrocyte morphology, Spasticity ORPHA:168486
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Dystonia, Difficulty walking, Hemiparesis, Bradykinesia, Parkinsonism ORPHA:306669
Oculopharyngodistal Myopathy
Vocal cord paresis, Difficulty walking, Loss of ability to walk, Weight loss, Paraplegia ORPHA:98897
Roussy-Levy Hereditary Areflexic Dystasia
Gait ataxia, Upper limb postural tremor, Action tremor, Distal sensory impairment OMIM:180800
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Fasciculations, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Fasciculations, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Bradykinesia, Oculogyric crisis, Limb hypertonia, Small for gestational age, Ri... ORPHA:70594
Mcdonough Syndrome
Cachexia ORPHA:2471
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Cachexia ORPHA:2774
Neurodegeneration With Brain Iron Accumulation 3
Tremor, Dystonia, Rigidity, Chorea, Blepharospasm, Ataxia, Bradykinesia, Writer's cramp, Laryngea... OMIM:606159
Adult Krabbe Disease
Hemiplegia, Hoffmann sign, Clumsiness, Impaired tactile sensation, Gait disturbance, Tetraparesis... ORPHA:206448
Neuronal Intranuclear Inclusion Disease
Tremor, Gait disturbance, Ataxia, Somatic sensory dysfunction, Rigidity OMIM:603472
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Tremor, Dystonia, Truncal ataxia, Gait ataxia, Rigidity, Hypertonia, Hemiballi... OMIM:618877
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Tetraplegia, Hypertonia, Spastic tetraplegia, Gliosis OMIM:608033
Combined Oxidative Phosphorylation Deficiency 14
Myoclonus, Gliosis OMIM:614946
Jaberi-Elahi Syndrome
Inability to walk, Tremor, Gait ataxia, Dystonia, Dysmetria, Failure to thrive, Choreoathetosis, ... OMIM:617988
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Oculomotor apraxia, Ataxia, Myoclonus, Dysmetr... ORPHA:313772
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Familial Acute Necrotizing Encephalopathy
Gliosis, Gait disturbance, Hypertonia, Spastic tetraplegia, Rigidity, Spasticity ORPHA:88619
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Distal sensory impairment OMIM:616668
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Tremor, Dystonia, Abnormality of coordination, Gait disturbance, Hypertonia, ... ORPHA:352649
Hypermanganesemia With Dystonia 1
Tremor, Dystonia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Poor fine mo... OMIM:613280
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tremor, Gait disturbance, Toe walking, Babinski sign, Abnormal astrocyte morp... ORPHA:83629
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy, Spastic paraparesis, Impaired vibratory sensation, Poor coordination, Abnormal pyramida... OMIM:238970
Autosomal Dominant Spastic Paraplegia Type 9B
Postural tremor, Progressive gait ataxia, Atrophy of the spinal cord, Spastic gait, Progressive i... ORPHA:447757
Poliomyelitis
Inability to walk, Myelitis, Paresthesia, Paraparesis, Hyperkinetic movements, Paralysis, Fascicu... ORPHA:2912
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Infantile Krabbe Disease
Spastic diplegia, Ankle clonus, Opisthotonus, Lower limb spasticity, Decerebrate rigidity, Cachex... ORPHA:206436
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Tremor, Dystonia, Gait disturbance, Hypertonia, Abnormal pyramidal sign, Atax... ORPHA:96
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Hypertonia, Ataxia, Cerebellar gliosis, Dysmetria, Intention tremor, Distal ... OMIM:616505
Spinocerebellar Ataxia Type 21
Tremor, Gait ataxia, Akinesia, Abnormality of extrapyramidal motor function, Progressive cerebell... ORPHA:98773
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Spastic paraplegia, Tremor, Gait disturbance, Babinski sign, Tetraplegia,... OMIM:616586
X-Linked Intellectual Disability, Cabezas Type
Tremor, Cachexia, Hyperactivity, Broad-based gait, Obesity ORPHA:85293
Xeroderma Pigmentosum, Complementation Group F
Decreased body weight, Tremor, Ataxia OMIM:278760
Idiopathic Achalasia
Weight loss ORPHA:930
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dystonia, Lethargy, Gliosis, Chorea, Ataxia OMIM:618321
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Resting tremo... ORPHA:401768
Spinocerebellar Ataxia Type 36
Truncal ataxia, Head tremor, Limb ataxia, Difficulty walking, Ataxia, Tongue fasciculations, Dysm... ORPHA:276198
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Lethargy, Dystonia, Rigidity, Hyperkinetic movements, Limb hypertonia, Choreoathetosis OMIM:233910
Leukodystrophy, Hypomyelinating, 3
Abnormal pyramidal sign, Spastic paraparesis, Failure to thrive OMIM:260600
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Tremor, Gait ataxia, Clumsiness, Chorea, Spastic hemiparesis, Slurred speech, Abnor... ORPHA:282166
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Action tremor, Myoclonus, Intention tremor OMIM:254900
L-2-Hydroxyglutaric Aciduria
Spastic tetraparesis, Abnormal pyramidal sign, Gliosis, Abnormality of extrapyramidal motor function OMIM:236792
Dopa-Responsive Dystonia
Inability to walk, Tremor, Dystonia, Lethargy, Abnormality of extrapyramidal motor function, Diff... ORPHA:255
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Abnormality of coordination, Difficulty walking, Ataxia, Unsteady gait, Limb hypertonia, ... ORPHA:442835
Spastic Paraplegia 75, Autosomal Recessive
Babinski sign, Spastic dysarthria, Spastic paraparesis, Dysmetria OMIM:616680
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
X-Linked Charcot-Marie-Tooth Disease Type 2
Spastic paraparesis, Gait disturbance, Distal sensory impairment, Babinski sign, Clasp-knife sign... ORPHA:101076
Oromandibular Dystonia
Hyperkinetic movements, Blepharospasm, Weight loss, Lingual dystonia, Laryngeal dystonia, Tortico... ORPHA:93958
Isolated Succinate-Coq Reductase Deficiency
Spastic paraparesis, Loss of ability to walk, Lower limb hypertonia, Spastic tetraparesis, Ataxia... ORPHA:3208
Paget Disease Of Bone 2, Early-Onset
Long-tract signs, Paraparesis, Tetraparesis OMIM:602080
Coasy Protein-Associated Neurodegeneration
Difficulty walking, Oromandibular dystonia, Parkinsonism, Spastic paraparesis ORPHA:397725
Supranuclear Palsy, Progressive, 1
Tremor, Axial dystonia, Eyelid apraxia, Gliosis, Akinesia, Bradykinesia, Falls, Parkinsonism, Lim... OMIM:601104
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Ataxia, Myoclonus, Stereotypy OMIM:619092
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Truncal ataxia, C... ORPHA:228360
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Tremor, Truncal ataxia, Dysmetria OMIM:610185
Pontocerebellar Hypoplasia, Type 2A
Opisthotonus, Extrapyramidal dyskinesia, Gliosis OMIM:277470
Amyotrophic Lateral Sclerosis 19
Loss of ability to walk, Amyotrophic lateral sclerosis OMIM:615515
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Degeneration of anterior horn cells, Parkinsonism, Gliosis, Trophic limb changes OMIM:118301
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Abnormality of extrapyramidal motor function, Head tremor, Difficulty walking, Abnormal... ORPHA:280219
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi... OMIM:619279
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Peroxisome Biogenesis Disorder 5B
Tremor, Oculomotor apraxia, Ataxia, Unsteady gait, Dysmetria OMIM:614867
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Astrocytosis, Gliosis, Hypertonia, Ataxia, Paralysis, Myoclonus, Failure to thrive OMIM:203700
Dystonia 13, Torsion, Autosomal Dominant
Tremor, Torsion dystonia, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... OMIM:607671
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Paresthesia, Weight loss ORPHA:298
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dysmetria, Spasticity ORPHA:1170
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Supranuclear Palsy, Progressive, 2
Postural tremor, Eyelid apraxia, Axial dystonia, Gliosis, Akinesia, Bradykinesia, Falls, Parkinso... OMIM:609454
Parkinsonism-Dystonia, Infantile, 2
Tremor, Gait ataxia, Dystonia, Incoordination, Oculogyric crisis, Parkinsonism, Shuffling gait OMIM:618049
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Spastic tetraplegia, Cachexia, Hyperesthesia ORPHA:371364
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Choreoathetosis, Limb ataxia, Blepharospasm, Ata... ORPHA:101
Renpenning Syndrome
Cachexia ORPHA:3242
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Hereditary Central Diabetes Insipidus
Lethargy, Weight loss ORPHA:30925
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Tremor, Dystonia, Difficulty walking, Oculogyric crisis ORPHA:330050
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoc... ORPHA:363400
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Tremor, Dystonia, Truncal ataxia, Gait ataxia, Limb ataxia, Oculomotor apraxia, Ataxia, Distal se... OMIM:208920
Amyotrophic Lateral Sclerosis 1
Pseudobulbar paralysis, Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Fasci... OMIM:105400
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Stereotypy, Hyperactivity, Spasticity OMIM:618718
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Weight loss, Cachexia, Distal sensory impairment OMIM:603041
Spinocerebellar Ataxia 8
Tremor, Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Dyskinesia, Familial, With Facial Myokymia
Chorea, Dystonia, Limb hypertonia, Resting tremor OMIM:606703
Neurofibromatosis, Familial Spinal
Paraparesis, Spinal cord tumor OMIM:162210
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Lethargy, Failure to thrive, Ataxia OMIM:201100
Whipple Disease
Myoclonus, Abnormal pyramidal sign, Cachexia, Ataxia ORPHA:3452
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Sensory ataxia, Spastic paraparesis, Impaired vibratory sensation, Difficulty walking, Babinski s... OMIM:500013
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Spastic tetraplegia, Head titubation, Gliosis ORPHA:3240
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Mannosidosis, Alpha B, Lysosomal
Gait ataxia, Gliosis, Limb ataxia, Abnormal pyramidal sign, Spinocerebellar tract disease in lowe... OMIM:248500
Fragile X Tremor/Ataxia Syndrome
Dysdiadochokinesis, Postural tremor, Gait ataxia, Poor fine motor coordination, Resting tremor, A... OMIM:300623
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Gait disturbance, Poor coordination, Ataxia, Abnormality of pain sensation, Recurrent han... ORPHA:544254
4H Leukodystrophy
Dysdiadochokinesis, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Progressive g... ORPHA:289494
Fatty Acid Hydroxylase-Associated Neurodegeneration
Progressive extrapyramidal movement disorder, Progressive gait ataxia, Progressive spastic quadri... ORPHA:329308
Ataxia-Telangiectasia
Tremor, Gait disturbance, Ataxia, Failure to thrive, Spasticity ORPHA:100
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Oromandibular dystonia, Torticollis, Upper limb postural tremor, Myoclonus, Limb d... ORPHA:420485
Spontaneous Periodic Hypothermia
Gait disturbance, Tremor, Ataxia ORPHA:29822
Pyruvate Dehydrogenase Deficiency
Tremor, Lethargy, Dystonia, Gait disturbance, Abnormal pyramidal sign, Ataxia, Choreoathetosis, C... ORPHA:765
Tetrasomy 12P
Cachexia ORPHA:884
Classic Progressive Supranuclear Palsy Syndrome
Tremor, Axial dystonia, Dystonia, Akinesia, Parkinsonism with favorable response to dopaminergic ... ORPHA:240071
Chronic Hiccup
Weight loss ORPHA:396
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Upper motor neuron dysfunction OMIM:612577
Developmental And Epileptic Encephalopathy 42
Tremor, Hypertonia, Ataxia, Athetosis OMIM:617106
Neuroblastoma, Susceptibility To, 1
Weight loss, Ataxia, Spinal cord compression, Myoclonus, Failure to thrive OMIM:256700
Adult-Onset Autosomal Dominant Leukodystrophy
Hypertonia, Tetraparesis, Head titubation, Spastic gait, Impaired distal vibration sensation, Dis... ORPHA:99027
Multiple System Atrophy
Postural tremor, Axial dystonia, Gait ataxia, Abnormal pyramidal sign, Resting tremor, Bradykines... ORPHA:102
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Difficulty walking, Oculomotor apraxia, Dysmetria, Spasticity ORPHA:529665
Adducted Thumbs Syndrome
Myelin-dependent gliosis OMIM:201550
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Babinski sign, Stereotypy, Spasticity OMIM:612069
Amyotrophic Lateral Sclerosis 18
Fasciculations, Amyotrophic lateral sclerosis, Spasticity OMIM:614808
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia, Ataxia, Spasticity ORPHA:220295
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Abnormality of the dorsal column of the spinal cord, Abnormal pyramidal sign, Lower limb ... ORPHA:447753
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Inability to walk, Gliosis, Upper limb spasticity, Ataxia, Lower limb spasticity, Tongue fascicul... OMIM:617193
Parkinson Disease 8, Autosomal Dominant
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Pa... OMIM:607060
Combined Oxidative Phosphorylation Defect Type 7
Inability to walk, Spastic paraparesis, Difficulty walking, Abnormal pyramidal sign, Ataxia, Impa... ORPHA:254930
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Lethargy, Increased body weight ORPHA:276608
Multiple Carboxylase Deficiency
Spinal cord posterior columns myelin loss, Lethargy, Spastic paraparesis, Ataxia ORPHA:148
Progressive Multifocal Leukoencephalopathy
Gait ataxia, Abnormal oligodendroglia morphology, Paresthesia, Weakness due to upper motor neuron... ORPHA:217260
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Tremor, Incoordination, Eyelid myoclonus, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Sp... OMIM:618060
Parkinson Disease, Late-Onset
Tremor, Dystonia, Resting tremor, Bradykinesia, Parkinsonism, Short stepped shuffling gait, Subst... OMIM:168600
Lissencephaly, X-Linked, 2
Gliosis, Spasticity OMIM:300215
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Paraparesis, Paraplegia, Hemiparesis, Failure to thrive in infancy ORPHA:79124
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Multiple System Atrophy, Cerebellar Type
Postural tremor, Axial dystonia, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Resting tremo... ORPHA:227510
Leigh Syndrome
Dystonia, Gliosis, Abnormality of extrapyramidal motor function, Chorea, Hyperkinetic movements, ... ORPHA:506
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Mohr-Tranebjaerg Syndrome
Inability to walk, Tremor, Dystonia, Attention deficit hyperactivity disorder, Apraxia, Abnormal ... ORPHA:52368
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Dysdiadochokinesis, Gait ataxia, Akinesia, Abnormal vestibulo-ocular reflex, Resting tremor, Atax... ORPHA:247234
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hand tremor, Small for gestational age, Weight loss, Hyperactivity ORPHA:424
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Japanese Encephalitis
Pill-rolling tremor, Tremor, Dystonia, Cogwheel rigidity, Abnormality of extrapyramidal motor fun... ORPHA:79139
Classic Hodgkin Lymphoma
Weight loss, Ataxia ORPHA:391
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Spastic paraparesis, Unsteady gait, Truncal obesity, Dysmetria, Hand tremor ORPHA:3041
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Spasticity OMIM:611895
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Fasciculations, Amyotrophic lateral sclerosis OMIM:619141
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Pelizaeus-Merzbacher Disease In Female Carriers
Inability to walk, Spastic paraparesis, Difficulty walking, Gait disturbance, Lower limb spastici... ORPHA:280229
Holocarboxylase Synthetase Deficiency
Lethargy, Ataxia, Weight loss ORPHA:79242
Central Diabetes Insipidus
Failure to thrive, Lethargy, Weight loss ORPHA:178029
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy, Spastic paraparesis, Gait disturbance, Atrophy of the spinal cord, Hemiparesis, Ataxia,... ORPHA:395
Farber Disease
Paraparesis, Myoclonus, Failure to thrive, Spasticity ORPHA:333
Fatal Familial Insomnia
Weight loss, Myoclonus, Ataxia OMIM:600072
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Blepharospasm, Torticollis, Torsion dystonia OMIM:224500
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Fasciculations, Amyotrophic lateral sclerosis OMIM:613954
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Axial dystonia, Gait ataxia, Abnormal pyramidal sign, Resting tremor, Bradykines... ORPHA:98933
Trisomy X
Tremor, Attention deficit hyperactivity disorder ORPHA:3375
Rhabdoid Tumor
Hemiplegia, Cerebral palsy, Weight loss ORPHA:69077
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Hemiplegia, Cachexia ORPHA:3217
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Dystonia, Gait ataxia, Chorea, Gait disturbance, Resting tremor, Bradykinesia, Progre... ORPHA:225147
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Waardenburg Syndrome, Type 4A
Spastic paraparesis, Ataxia OMIM:277580
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Head tremor, Difficulty walking, Craniofacial dystonia, Writer's cramp, Limb trem... ORPHA:420492
Aredyld Syndrome
Cachexia ORPHA:1133
Sneddon Syndrome
Chorea, Tremor, Hemiparesis ORPHA:820
Wolman Disease
Cachexia ORPHA:75233
Neuroferritinopathy
Dystonia, Difficulty walking, Chorea, Palatal myoclonus, Blepharospasm, Resting tremor, Bradykine... ORPHA:157846
3-Methylglutaconic Aciduria, Type Viii
Tremor, Hypertonia, Dystonia OMIM:617248
Graves Disease, Susceptibility To, 1
Weight loss, Hyperactivity OMIM:275000
Combined Oxidative Phosphorylation Deficiency 24
Gliosis, Spasticity OMIM:616239
Bilateral Perisylvian Polymicrogyria
Pseudobulbar paralysis, Oromotor apraxia, Paraparesis, Limb hypertonia, Lower limb spasticity, Sp... ORPHA:98889
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Myoclonus, Ataxia OMIM:607876
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Myelopathy, Tremor, Tetraparesis, Ataxia OMIM:617186
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Obesity, Tremor, Spastic diplegia, Dystonia ORPHA:480907
Parkinson Disease 21
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:616361
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Amyotrophic lateral sclerosis OMIM:613435
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Astrocytosis, Dysdiadochokinesis, Dystonia, Truncal ataxia, Spastic paraparesis, Difficulty walki... ORPHA:309854
Familial Gestational Hyperthyroidism
Hand tremor, Weight loss, Hyperactivity ORPHA:99819
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Gait disturbance, Tremor, Hypertonia ORPHA:1192
Generalized Epilepsy With Febrile Seizures-Plus
Tremor, Incoordination, Poor fine motor coordination, Ataxia, Bradykinesia ORPHA:36387
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Paresthesia OMIM:175500
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Inability to walk, Dystonia, Gliosis, Chorea, Hyperkinetic movements, Oculomotor apraxia, Action ... ORPHA:404454
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
Igg4-Related Pachymeningitis
Somatic sensory dysfunction, Paraparesis, Abnormal spinal dura mater morphology, Spinal cord comp... ORPHA:449427
Amyotrophic Lateral Sclerosis 21
Abnormal upper motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal lower motor neuro... OMIM:606070
19Q13.11 Microdeletion Syndrome
Cachexia, Failure to thrive ORPHA:217346
Oculodentodigital Dysplasia
Paraparesis, Tetraparesis, Ataxia, Spasticity OMIM:164200
Familial Colorectal Cancer Type X
Paresthesia, Gait disturbance, Hypertonia, Glioblastoma multiforme, Abnormal pyramidal sign, Weig... ORPHA:440437
Cockayne Syndrome
Inability to walk, Gliosis, Progressive gait ataxia, Difficulty walking, Gait disturbance, Hypert... ORPHA:191
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Ataxia, Obesity, Tongue thrusting, Recurrent hand flapping, Hyperactivity, Myoclonus, Gai... ORPHA:98794
Hypercalcemia, Infantile, 1
Failure to thrive, Lethargy, Weight loss OMIM:143880
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Tremor, Dystonia, Gait ataxia, Head tremor, Limb ataxia, Progressive gait ataxia, Chorea, Abnorma... OMIM:606002
Classic Phenylketonuria
Hemiplegia, Tremor, Hypertonia, Paraplegia, Attention deficit hyperactivity disorder