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Gene: Ctsf MGI:1861434

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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)
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus 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
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Abnormal pyra... ORPHA:95434
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia OMIM:618093
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ... OMIM:611637
Huntington Disease-Like 2
Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance, Dystonia ORPHA:98934
Juvenile Primary Lateral Sclerosis
Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait imbalance, Abnormal upper... ORPHA:247604
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... OMIM:614561
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Autosomal Recessive Spastic Paraplegia Type 43
Impaired vibratory sensation, Babinski sign, Poor fine motor coordination, Difficulty walking, Sp... ORPHA:320370
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... OMIM:105550
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Tetraplegia, Hand tremor, Degeneration of anterior horn cells, Distal sensory impairment, Gait di... OMIM:604484
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Gliosis, Spas... OMIM:213200
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment OMIM:617018
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Gliosis, Dystonia OMIM:300857
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance ORPHA:99014
Alpers-Huttenlocher Syndrome
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... ORPHA:726
Spinocerebellar Ataxia 17
Broad-based gait, Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Limb ataxia, Dysmetria, Gait ... OMIM:607136
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Spastic Paraparesis-Deafness Syndrome
Ataxia, Impaired pain sensation, Hemiplegia/hemiparesis, Gait disturbance, Spastic paraparesis ORPHA:2815
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Distal sensory impair... OMIM:302800
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia ORPHA:217012
Juvenile Amyotrophic Lateral Sclerosis
Axial dystonia, Lower limb spasticity, Amyotrophic lateral sclerosis, Dystonia, Ataxia, Clonus, C... ORPHA:300605
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... ORPHA:423275
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ... ORPHA:35689
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Impaired temperature sensation, Impaired pain sensation, Impaired p... DECIPHER:29
Primary Lateral Sclerosis, Juvenile
Appendicular spasticity, Spastic tetraparesis, Babinski sign, Spastic dysarthria, Pseudobulbar pa... OMIM:606353
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Gait apraxia, Babinski sig... OMIM:615157
Spinocerebellar Ataxia Type 38
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia ORPHA:423296
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Spinocerebellar Ataxia, Autosomal Recessive 27
Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gait disturbance, Gait imbalance... OMIM:618369
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Unsteady gait, Ataxia OMIM:615945
Huntington Disease
Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis OMIM:143100
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling ga... OMIM:221820
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Paraparesis, Truncal... OMIM:607483
Amyotrophic Lateral Sclerosis 2, Juvenile
Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Abnormal lowe... OMIM:205100
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Steppage gait, Distal sensory impairment OMIM:302802
Alexander Disease Type I
Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Palatal tremor, Failure to thrive ORPHA:363717
L-2-Hydroxyglutaric Aciduria
Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Gliosis, Abnormality of extrapyramidal mot... OMIM:236792
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Parkinson Disease 2, Autosomal Recessive Juvenile
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis ORPHA:67047
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Huntington Disease-Like 1
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Weight loss, Gait ataxi... ORPHA:157941
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturban... ORPHA:363710
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... ORPHA:251282
Juvenile Huntington Disease
Broad-based gait, Ataxia, Rigidity, Chorea, Weight loss, Gait ataxia, Progressive cerebellar atax... ORPHA:248111
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Weight loss, Failure to thrive, Cachexia, Gait ataxia OMIM:612075
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ataxia, Cachexia, Weight loss OMIM:613662
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Mast Syndrome
Incoordination, Babinski sign, Spastic paraplegia, Athetosis, Dysdiadochokinesis, Hypertonia, Gai... OMIM:248900
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Paraparesis, Oromotor apraxia... OMIM:617854
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Migraine, Familial Hemiplegic, 1
Tremor, Hemiplegia, Ataxia, Hemiparesis OMIM:141500
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Clumsiness, Eye... ORPHA:2590
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Spastic tetraparesis, Basal ganglia gliosis, Rigidity, Babinski sign, Spasticity, Gait at... ORPHA:225154
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Tremor, Truncal obesity, Hyperkinetic movem... OMIM:300957
Machado-Joseph Disease
Impaired vibratory sensation, Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigi... OMIM:109150
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Peroxisome Biogenesis Disorder 8B
Lower limb spasticity, Ataxia, Clonus, Rigidity, Dysesthesia, Unsteady gait, Babinski sign, Limb ... OMIM:614877
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... ORPHA:314978
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Riboflavin Transporter Deficiency
Tremor, Ataxia, Myoclonus, Cachexia ORPHA:97229
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Astrocytosis, Abnormality of extrapyramidal motor... ORPHA:204
Huntington Disease-Like 2
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Action tremor OMIM:606438
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Gliosis, Difficulty ... ORPHA:280210
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Impaired distal proprioception ORPHA:231445
Spastic Paraplegia 48, Autosomal Recessive
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Spastic paraplegia, Dysmetria, Tip... OMIM:613647
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa... ORPHA:101077
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Spasticity, Ataxia, Tremor OMIM:278780
Polyglucosan Body Neuropathy, Adult Form
Spastic paraplegia, Distal sensory impairment, Gait disturbance, Tetraparesis, Paresthesia, Abnor... OMIM:263570
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Developmental And Epileptic Encephalopathy 14
Spasticity, Gliosis, Clonus, Tetraplegia OMIM:614959
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... ORPHA:216873
Boucher-Neuhauser Syndrome
Ataxia, Gait ataxia, Abnormal upper motor neuron morphology, Spasticity, Intention tremor OMIM:215470
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Choreoathetosis, Gait disturbance, Dystonia, Spas... ORPHA:702
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Babinski sign, Limb ataxia, Gait ataxia, Lower limb hypertonia, Upper limb hypert... OMIM:613672
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Spinocerebellar Ataxia 23
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... OMIM:610245
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Impaired vibration sens... OMIM:600363
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem... ORPHA:454887
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Gait disturbance, Myoclonus, Gliosis, Apraxia, Abnormal upper motor neuron morphol... OMIM:221770
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... ORPHA:276435
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Ataxia, Obesity, Limb dystonia OMIM:620270
Christianson Syndrome
Dystonia, Truncal ataxia, Cachexia, Gait ataxia ORPHA:85278
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Vocal cord paralysis OMIM:607641
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Hoffmann sign, Babinski sign... OMIM:601162
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Failure to thrive, Ataxia OMIM:618951
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis ORPHA:140989
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Bab... OMIM:613954
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor OMIM:302500
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Spinocerebellar tract degeneration, Dystonia, L... OMIM:617916
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity OMIM:615924
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Progressive cerebellar ataxia, Progressive gait ataxia, Lower limb hypertonia, Myo... ORPHA:254343
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram... OMIM:617225
Pontocerebellar Hypoplasia, Type 4
Spasticity, Hypertonia, Gliosis, Myoclonus OMIM:225753
X-Linked Creatine Transporter Deficiency
Ataxia, Cachexia, Chorea, Athetosis, Hypertonia, Dystonia ORPHA:52503
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia ORPHA:157973
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Spastic pa... OMIM:615643
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Overweight, Tremor, Hyperkinetic movements, Upper limb spasticity, Gait disturbance, Gliosis ORPHA:457240
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus... OMIM:168601
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Isaacs Syndrome
Fasciculations, Distal sensory impairment, Weight loss ORPHA:84142
Huntington Disease
Dystonia, Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Weig... ORPHA:399
Myelopathy, Htlv-1-Associated
Myelopathy, Abnormal pyramidal sign, Spastic paraparesis OMIM:159580
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Inability to walk... OMIM:611890
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Babinski sign, Spastic paraplegia, Spastic tetraplegia, T... OMIM:607225
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... ORPHA:314632
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ankle clonus, Bradykin... ORPHA:521406
Leigh Syndrome
Ataxia, Gliosis, Dystonia, Spasticity, Failure to thrive OMIM:256000
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Failure to thrive ORPHA:477673
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Failure to thrive, Myoclonus, Dystonia OMIM:619651
Vitamin B12-Unresponsive Methylmalonic Acidemia
Choreoathetosis, Paraparesis, Ataxia, Tetraparesis ORPHA:27
Mulibrey Nanism
Cachexia ORPHA:2576
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... OMIM:604326
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare... ORPHA:43
Stxbp1-Related Encephalopathy
Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity ORPHA:599373
Leukodystrophy, Hypomyelinating, 11
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia ORPHA:101005
Hemimegalencephaly
Hemiparesis, Gliosis, Myoclonus, Abnormal neuron morphology ORPHA:99802
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Substantia nigra gliosis, Facial-lingual fasciculations, ... ORPHA:276244
Autosomal Dominant Spastic Paraplegia Type 73
Lower limb spasticity, Progressive spastic paraparesis, Babinski sign, Impaired vibration sensati... ORPHA:444099
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Gliosis, Abnormality of extrapyramidal motor function, Myoclonus, Distal sensory impairment OMIM:604218
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk OMIM:619561
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Falls,... OMIM:300423
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... OMIM:602099
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101075
Rett Syndrome
Cachexia, Gait apraxia, Truncal ataxia, Gait ataxia, Dystonia, Spasticity OMIM:312750
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Pulmonary Blastoma
Weight loss ORPHA:64741
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Gliosis, Shuffling g... ORPHA:411602
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Hippocampal sclerosis, Myoclonus OMIM:615400
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Difficulty walking, Waddling gait OMIM:611067
Amyotrophic Lateral Sclerosis 16, Juvenile
Loss of ambulation, Lower limb spasticity, Amyotrophic lateral sclerosis OMIM:614373
Spastic Paraplegia 50, Autosomal Recessive
Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia, Gliosis, Limb hypertonia OMIM:612936
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Ataxia, Inability to walk, Cerebellar gliosis, Gliosis, Dystonia, Basa... ORPHA:79243
Leukoencephalopathy With Vanishing White Matter 1
Spasticity, Unsteady gait, Gait disturbance, Gliosis OMIM:603896
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Clonus, Poor coordination, Abnormal pyramidal sign, Spastic paraple... OMIM:238970
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Gliosis OMIM:613002
Hsd10 Disease
Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Spastic paraparesis ORPHA:391417
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia, Inability to walk, Hypertonia, Spasticity OMIM:616801
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus OMIM:615362
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Gliosis, Dystonia ORPHA:683
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai... OMIM:615528
Spastic Paraplegia 75, Autosomal Recessive
Babinski sign, Abnormal pyramidal sign, Impaired distal vibration sensation, Dysmetria, Spastic d... OMIM:616680
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait OMIM:618387
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Weight loss, Gait ataxia, Bradykinesia, Myoclonus, T... OMIM:137440
Flynn-Aird Syndrome
Ataxia, Cachexia, Impaired pain sensation ORPHA:2047
Microcephaly 10, Primary, Autosomal Recessive
Spasticity, Hypertonia, Small for gestational age, Gliosis OMIM:615095
Adrenoleukodystrophy
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Truncal ataxia, Imp... OMIM:300100
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation OMIM:614018
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis,... OMIM:617145
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Cachexia ORPHA:1933
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Tetraplegia/tetraparesis, Progressive spastic paraparesis, Babinski sign, Ankle clonus, Progressi... ORPHA:506353
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Cerebral palsy, Generalized dystonia, Spastic tetraparesis, Paraparesis, Dystonia... OMIM:620358
Moynahan Syndrome
Cachexia ORPHA:2574
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101078
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Small for gestational age, Clonus, Babinski sign, Spastic tetraplegia, Opisthoton... OMIM:619847
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Hypertonia, Cachexia ORPHA:1389
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... ORPHA:397946
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Babinski sign, Distal sensory impairment, Steppage gait, Hypertonia, Spasticity OMIM:609260
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Limb ataxia, Dysm... ORPHA:284324
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myoclonus OMIM:619028
X-Linked Intellectual Disability, Hedera Type
Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred speech, Obesity, Dysm... ORPHA:93952
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis OMIM:105500
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Small for gestational age, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... OMIM:261640
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gait disturbance, Fasciculations OMIM:608030
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Abnormality of the dorsal column of the spinal cord, Impaired distal propriocepti... ORPHA:137898
Autosomal Recessive Spastic Paraplegia Type 11
Ataxia, Parkinsonism, Overweight, Inability to walk, Atrophy of the spinal cord, Paraparesis, Obe... ORPHA:2822
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... OMIM:168605
Tuberculosis
Weight loss ORPHA:3389
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Spastic paraparesis, ... OMIM:614487
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... ORPHA:206443
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Parkinsonism, Motor neuron atrophy, Bradykinesia, Falls, Shuffling gait, Spinocerebellar tract de... ORPHA:412066
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babin... OMIM:614298
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Fasciculations ORPHA:65684
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... OMIM:616719
Neurodegeneration With Brain Iron Accumulation 2A
Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Gliosis OMIM:256600
Developmental And Epileptic Encephalopathy 82
Spastic paraparesis, Inability to walk, Spastic tetraplegia, Decreased body weight OMIM:618721
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss ORPHA:178509
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... OMIM:610185
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr... ORPHA:240094
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Inability to walk, Tremor OMIM:616269
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Inability to walk, Opisthotonus, Weight loss, Tip-toe gait, Gait disturbanc... ORPHA:216866
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Spastic ga... OMIM:616795
Spinocerebellar Ataxia Type 27
Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr... ORPHA:98764
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to... OMIM:616710
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Rigidity, Babinski sign, Hand tremor, Bradykinesia, Gait disturbance, Shu... ORPHA:289560
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Lower limb spasticity, Gliosis OMIM:615119
Spinal Arteriovenous Metameric Syndrome
Paraparesis, Abnormal spinal cord morphology, Spinal arteriovenous malformation ORPHA:53721
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Difficulty walking, Myoclonus... OMIM:159950
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Spastic paraparesis, Atrophy of the spinal cord, Palatal tremor, Truncal ataxia OMIM:113610
Mantle Cell Lymphoma
Weight loss ORPHA:52416
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Reduction of oligodendroglia, Tre... OMIM:312080
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Amyotrophic lateral sclerosis, Abnormal motor neuron morphology, Fasciculations, U... ORPHA:52430
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Tay-Sachs Disease
Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to walk, Dysmetria, Clu... ORPHA:845
Leukodystrophy, Hypomyelinating, 2
Dystonia, Ataxia, Rigidity, Head titubation, Babinski sign, Choreoathetosis, Progressive spastici... OMIM:608804
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Myoclonus, Spastic parapares... ORPHA:313772
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Babinski sign, Pseudobulbar paralysis, Gliosis, Spasticity OMIM:169500
Intellectual Developmental Disorder, X-Linked 104
Tremor, Spasticity, Ataxia OMIM:300983
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... OMIM:614831
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Clonus, Rigidity, Babinski sign, Hypertonia, Gliosis, Myoclonic spasms, Limb hypertonia OMIM:614498
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Myocl... ORPHA:79263
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... ORPHA:99750
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Bab... OMIM:183090
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Cachexia ORPHA:42
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Hypertonia, Spasticity ORPHA:33445
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Difficulty walking, Dystonia ORPHA:306669
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240085
Arachnoid Cyst
Spinal cord compression, Inability to walk, Spinal arachnoid cyst, Paraparesis, Abnormal spinal m... ORPHA:2356
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Tremor, Inability to walk, Distal sensory impairment, Limb fascicula... ORPHA:90117
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Neuropathy, Congenital Hypomyelinating, 3
Spasticity, Babinski sign, Cachexia, Dystonia OMIM:618186
Developmental And Epileptic Encephalopathy 71
Gliosis OMIM:618328
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia ORPHA:139485
Glycosylphosphatidylinositol Biosynthesis Defect 15
Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity OMIM:617810
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Loss of ambulation, Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations OMIM:613435
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Broad-based gait, Spastic tetraparesis OMIM:619470
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Isolated Succinate-Coq Reductase Deficiency
Ataxia, Spastic tetraparesis, Babinski sign, Weight loss, Lower limb hypertonia, Spastic parapare... ORPHA:3208
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor OMIM:620158
Familial Acute Necrotizing Encephalopathy
Rigidity, Spastic tetraplegia, Hypertonia, Gait disturbance, Gliosis, Spasticity ORPHA:88619
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Hypertonia, Gliosis, Spastic tetraplegia, Tetraplegia OMIM:608033
Infantile Krabbe Disease
Lower limb spasticity, Cachexia, Spastic diplegia, Opisthotonus, Ankle clonus, Myoclonus, Decereb... ORPHA:206436
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Cachexia ORPHA:93941
Atypical Rett Syndrome
Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Limb myoclon... ORPHA:3095
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Obesit... OMIM:300055
Behr Syndrome
Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Gait disturbance, Progressive spasticity... OMIM:210000
Oculopharyngodistal Myopathy
Paraplegia, Weight loss, Difficulty walking, Loss of ambulation, Vocal cord paresis ORPHA:98897
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Fasciculations OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Fasciculations OMIM:616437
Coasy Protein-Associated Neurodegeneration
Oromandibular dystonia, Parkinsonism, Difficulty walking, Spastic paraparesis ORPHA:397725
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Cachexia ORPHA:2774
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Mcdonough Syndrome
Cachexia ORPHA:2471
Idiopathic Achalasia
Weight loss ORPHA:930
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia ORPHA:330050
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign, Fasciculations, Loss of ... OMIM:608627
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Gait disturbance OMIM:603472
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Gait ataxia, Distal sensory impairm... OMIM:616505
Pontocerebellar Hypoplasia, Type 2A
Chorea, Opisthotonus, Gliosis, Extrapyramidal dyskinesia, Dystonia OMIM:277470
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor OMIM:619738
Gaucher Disease, Type Iii
Spastic paraparesis, Ataxia, Myoclonus, Decreased body weight OMIM:231000
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Hypertonia, Failure to thrive OMIM:619556
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis ORPHA:329284
Spastic Paraplegia 20, Autosomal Recessive
Lower limb spasticity, Babinski sign, Spastic paraplegia, Dysmetria, Ankle clonus, Upper limb spa... OMIM:275900
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo... OMIM:618877
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Alexander Disease Type Ii
Ataxia, Rigidity, Babinski sign, Spasticity, Spastic paraparesis, Palatal tremor, Cervical spinal... ORPHA:363722
Charcot-Marie-Tooth Disease And Deafness
Tremor, Steppage gait, Gait disturbance, Distal sensory impairment OMIM:118300
Congenital Neuronal Ceroid Lipofuscinosis
Abnormal astrocyte morphology, Spasticity, Gliosis ORPHA:168486
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Poliomyelitis
Paralysis, Inability to walk, Paraparesis, Hyperkinetic movements, Paresthesia, Fasciculations, M... ORPHA:2912
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor OMIM:614307
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Tremor, Obesity, Shuffling... ORPHA:3077
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Somatic sensory dysfunction, Upper motor neuron dysfunction OMIM:612577
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Astrocytosis, Bradykine... OMIM:601104
Cerebrotendinous Xanthomatosis
Resting tremor, Somatic sensory dysfunction, Dystonia, Ataxia, Parkinsonism, Myelopathy, Parapare... ORPHA:909
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... OMIM:619911
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu... OMIM:616586
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Myoc... ORPHA:442835
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor g... OMIM:617013
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Tremor, Chorea, Oculomotor apraxia, Impaired distal vibration sensation, Limb a... OMIM:208920
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Hyperesthesia, Spastic tetraplegia, Cachexia ORPHA:371364
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Lopes-Maciel-Rodan Syndrome
Tremor, Unsteady gait, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Hypertonia, Dystonia,... OMIM:617435
Oromandibular Dystonia
Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic movements, Limb dysto... ORPHA:93958
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys... ORPHA:70594
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk... OMIM:609270
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic paraparesis OMIM:300894
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus OMIM:612016
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, ... OMIM:609454
Spinocerebellar Ataxia With Epilepsy
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... ORPHA:254881
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Gliosis, Myoclonus, Dystonia OMIM:618321
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Developmental And Epileptic Encephalopathy 42
Tremor, Athetosis, Hypertonia, Ataxia OMIM:617106
Glut1 Deficiency Syndrome 2
Choreoathetosis, Ataxia, Tremor, Dystonia OMIM:612126
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity ORPHA:542310
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
X-Linked Intellectual Disability, Cabezas Type
Tremor, Broad-based gait, Obesity, Cachexia ORPHA:85293
Aicardi-Goutieres Syndrome 6
Loss of ambulation, Rigidity, Tremor, Dystonia OMIM:615010
X-Linked Charcot-Marie-Tooth Disease Type 2
Clasp-knife sign, Babinski sign, Hand tremor, Distal sensory impairment, Steppage gait, Gait dist... ORPHA:101076
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Mitochondrial Neurogastrointestinal Encephalomyopathy
Paresthesia, Cachexia, Weight loss ORPHA:298
Amyotrophic Lateral Sclerosis 19
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:615515
Renpenning Syndrome
Cachexia ORPHA:3242
Hyperphenylalaninemia, Bh4-Deficient, B
Rigidity, Tremor, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia OMIM:233910
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation OMIM:619405
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:1170
Adult Krabbe Disease
Broad-based gait, Somatic sensory dysfunction, Ataxia, Progressive spastic paraparesis, Hoffmann ... ORPHA:206448
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Loss of ambulation, Spasticity OMIM:607694
Cln5 Disease
Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot... ORPHA:228360
Acute Transverse Myelitis
Impaired vibratory sensation, Somatic sensory dysfunction, Dysesthesia, Paraparesis, Dissociated ... ORPHA:139417
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Fatty Acid Hydroxylase-Associated Neurodegeneration
Generalized dystonia, Atrophy of the spinal cord, Progressive spastic paraparesis, Progressive sp... ORPHA:329308
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pseudobulbar paralysis, Fasci... OMIM:105400
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, G... ORPHA:206594
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Foix-Alajouanine Syndrome
Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Dysesthesia, Mye... ORPHA:79093
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal astrocyte morphology, Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait dist... ORPHA:83629
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Vestibular areflexia, Spastic tetraplegia, Gliosis, Dystonia ORPHA:3240
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Impaired vibratory sensation, Babinski sign, Impaired proprioception, Sensory ataxia, Difficulty ... OMIM:500013
Peroxisome Biogenesis Disorder 5B
Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia OMIM:614867
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia OMIM:312170
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... OMIM:619725
4H Leukodystrophy
Ataxia, Tremor, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Abnormality of extrapyram... ORPHA:289494
Whipple Disease
Ataxia, Abnormal pyramidal sign, Cachexia, Myoclonus ORPHA:3452
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Small for gestational age, Gliosis OMIM:214150
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation... OMIM:300623
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Sp... OMIM:618060
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Mannosidosis, Alpha B, Lysosomal
Babinski sign, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Gliosis, Spasticity, Spinocereb... OMIM:248500
Saccharopinuria
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia ORPHA:3124
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus OMIM:619092
Mitochondrial Complex I Deficiency, Nuclear Type 2
Ankle clonus, Falls, Gliosis, Difficulty walking, Dystonia OMIM:618222
Chronic Hiccup
Weight loss ORPHA:396
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis, Weight loss OMIM:613239
Parkinson Disease, Late-Onset
Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia,... OMIM:168600
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... OMIM:619574
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Ataxia, Postural tremor, Babinski sign, Truncal obesity, Lower limb hypertonia, Gliosis, Myoclonu... OMIM:301072
Neuroblastoma, Susceptibility To, 1
Ataxia, Spinal cord compression, Weight loss, Myoclonus, Failure to thrive OMIM:256700
Tetrasomy 12P
Cachexia ORPHA:884
Leigh Syndrome
Ataxia, Involuntary movements, Chorea, Spastic diplegia, Choreoathetosis, Athetosis, Hyperkinetic... ORPHA:506
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Fasciculations, Spasticity OMIM:614808
Lissencephaly, X-Linked, 2
Spasticity, Gliosis OMIM:300215
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Tetrapa... ORPHA:363400
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... ORPHA:240071
Adducted Thumbs Syndrome
Myelin-dependent gliosis OMIM:201550
Prune1-Related Neurological Syndrome
Clonus, Spastic tetraparesis, Inability to walk, Tongue fasciculations, Spastic paraparesis ORPHA:544469
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Lower limb spasticity, Ataxia, Inability to walk, Upper limb spasticity, Tongue fasciculations, G... OMIM:617193
Ataxia-Telangiectasia
Ataxia, Tremor, Gait disturbance, Spasticity, Failure to thrive ORPHA:100
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... OMIM:128100
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Spasticity, Ataxia, Cachexia ORPHA:220295
Pick Disease Of Brain
Gliosis OMIM:172700
O'Sullivan-Mcleod Syndrome
Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Tremor, Atrophy ... ORPHA:99965
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Amyotrophic lateral sclerosis, Tetraparesis, Spasticity OMIM:617892
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Weakness due to upper motor neuron dysfunctio... ORPHA:79139
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Positive Romberg s... OMIM:105210
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Developmental And Epileptic Encephalopathy 46
Tremor, Failure to thrive, Limb hypertonia OMIM:617162
Classic Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:391
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity ORPHA:529665
Farber Disease
Paraparesis, Spasticity, Failure to thrive, Myoclonus ORPHA:333
Autosomal Dominant Spastic Paraplegia Type 9A
Abnormality of the dorsal column of the spinal cord, Tremor, Babinski sign, Abnormal pyramidal si... ORPHA:447753
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hemiparesis, Paraparesis, Failure to thrive in infancy, Paraplegia ORPHA:79124
Combined Oxidative Phosphorylation Defect Type 7
Ataxia, Inability to walk, Abnormal pyramidal sign, Impaired tandem gait, Distal sensory impairme... ORPHA:254930
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Fasciculations OMIM:619141
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... ORPHA:247234
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy... ORPHA:217260
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... ORPHA:765
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Ataxia, Impaired distal proprioception, Hypoesthesia, Babinski sign, Impaired d... OMIM:607459
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Spasticity OMIM:611895
Fatal Familial Insomnia
Ataxia, Myoclonus, Weight loss OMIM:600072
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Pelizaeus-Merzbacher Disease In Female Carriers
Lower limb spasticity, Inability to walk, Babinski sign, Gait disturbance, Difficulty walking, Sp... ORPHA:280229
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia ORPHA:36387
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Basal ganglia gliosis, Gliosis, Limb dystonia OMIM:604377
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... ORPHA:52368
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Hemiplegia, Cachexia ORPHA:3217
Wolman Disease
Cachexia ORPHA:75233
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Babinski sign, Ataxia, Parkinsonism OMIM:615911
Bilateral Perisylvian Polymicrogyria
Lower limb spasticity, Paraparesis, Oromotor apraxia, Spastic tetraplegia, Dysmetria, Pseudobulba... ORPHA:98889
Aredyld Syndrome
Cachexia ORPHA:1133
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Small for gestational age, Inability to walk, Chorea, Athetosis, Hyperkinetic movements, Gliosis,... ORPHA:404454
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Involuntary movements, Chorea, Dysmetria, Athetosis, Hyperkinetic movements, ... OMIM:615273
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... OMIM:311510
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Hypoesthesia, Weight loss, Distal sensory impairment, Slender build, Allodynia OMIM:603041
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Unsteady gait, Dysmetria, Hand tremor, Truncal obesity, Spastic paraparesis ORPHA:3041
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Paresthesia, Cachexia OMIM:175500
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp... OMIM:614381
Migraine, Familial Hemiplegic, 2
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia OMIM:602481
Rhabdoid Tumor
Hemiplegia, Cerebral palsy, Weight loss ORPHA:69077
Paget Disease Of Bone 2, Early-Onset
Paraparesis, Tetraparesis OMIM:602080
Leukodystrophy, Hypomyelinating, 3
Appendicular spasticity, Failure to thrive, Abnormal pyramidal sign, Spastic paraparesis OMIM:260600
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cho... OMIM:617988
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
19Q13.11 Microdeletion Syndrome
Failure to thrive, Cachexia ORPHA:217346
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Developmental And Epileptic Encephalopathy 4
Choreoathetosis, Spastic paraplegia, Tremor, Spastic tetraplegia OMIM:612164
Waardenburg Syndrome, Type 4A
Ataxia, Spastic paraparesis OMIM:277580
Holocarboxylase Synthetase Deficiency
Ataxia, Weight loss ORPHA:79242
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Ataxia, Atrophy of the spinal cord, Hemiparesis, Gait disturbance, Spastic... ORPHA:395
Cockayne Syndrome
Somatic sensory dysfunction, Ataxia, Cachexia, Action tremor, Inability to walk, Progressive gait... ORPHA:191
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Babinski sign, Spasticity OMIM:612069
Combined Oxidative Phosphorylation Deficiency 32
Tremor, Inability to walk, Choreoathetosis, Dystonia, Spasticity OMIM:617664
Combined Oxidative Phosphorylation Deficiency 24
Spasticity, Gliosis OMIM:616239
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dystonia, Rigidity, Astrocytosis, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis,... ORPHA:309854
Gm1 Gangliosidosis
Generalized dystonia, Ataxia, Tremor, Unsteady gait, Weight loss, Gait disturbance, Decerebrate r... ORPHA:354
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ataxia, Paralysis, Astrocytosis, Hypertonia, Gliosis, Myoclonus, Tetraparesis, Failure to thrive OMIM:203700
Non-Functioning Paraganglioma
Tremor, Vocal cord paralysis, Weight loss ORPHA:94080
Xeroderma Pigmentosum, Complementation Group F
Tremor, Ataxia, Decreased body weight OMIM:278760
Igg4-Related Pachymeningitis
Spinal cord compression, Paraparesis, Somatic sensory dysfunction, Abnormal spinal dura mater mor... ORPHA:449427
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Impaired propriocep... OMIM:606002
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Infantile-Onset X-Linked Spinal Muscular Atrophy
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology, Tongue fasciculations ORPHA:1145
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dystonia, Limb hypertonia OMIM:617710
Primary Myelofibrosis
Cachexia ORPHA:824
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis, Parkinsonism OMIM:606688
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal sensory impairment,... OMIM:606070
Silver-Russell Syndrome
Failure to thrive in infancy, Obesity, Cachexia ORPHA:813
Oculodentodigital Dysplasia
Paraparesis, Spasticity, Ataxia, Tetraparesis OMIM:164200
Xfe Progeroid Syndrome
Poor coordination, Failure to thrive, Cachexia OMIM:610965
Lynch Syndrome
Glioblastoma multiforme, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Hypertonia... ORPHA:144
Kleefstra Syndrome Due To A Point Mutation
Failure to thrive, Gliosis, Large for gestational age ORPHA:261652
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Combined Oxidative Phosphorylation Deficiency 14
Basal ganglia gliosis, Gliosis, Myoclonus OMIM:614946
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Substantia nigra gliosis, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with... OMIM:607060
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim... OMIM:618056
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Wilson Disease
Increased body weight, Clumsiness, Weight loss, Difficulty walking, Failure to thrive ORPHA:905
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis, Weight loss OMIM:188580
Liposarcoma
Paresthesia, Weight loss ORPHA:69078
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Dysdiadocho... OMIM:617675
Familial Colorectal Cancer Type X
Glioblastoma multiforme, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Hypertonia... ORPHA:440437
Thymic Carcinoma
Diaphragmatic paralysis, Weight loss ORPHA:99868
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Parkinsonism, Astrocytosis, Abnormality of extrapyramidal... ORPHA:100070
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity OMIM:616840
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, Chorea, Lim... ORPHA:48818
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Broad-based gait, Cachexia, Paralysis, Spastic paraplegia, Limb ataxia, Hypertonia, Oculomotor ap... ORPHA:2072
Molybdenum Cofactor Deficiency, Complementation Group B
Spastic tetraplegia, Opisthotonus, Hypertonia, Gliosis, Myoclonic spasms OMIM:252160
Molybdenum Cofactor Deficiency, Complementation Group A
Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Gliosis, Myoclonic spasms OMIM:252150
Neurofibromatosis, Familial Spinal
Paraparesis OMIM:162210
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Trisomy 18
Cachexia, Hypertonia, Spina bifida ORPHA:3380
Purine Nucleoside Phosphorylase Deficiency
Cerebral palsy, Ataxia, Abnormal central motor function, Hypertonia, Spastic paraparesis, Spasticity ORPHA:760
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Ataxia, Tremor, Myelopathy, Rigidity, Cervical myelopathy, Tetraparesis OMIM:617186
Schwartz-Jampel Syndrome
Cachexia, Blepharospasm, Hypertonia, Gait disturbance, Decreased body weight ORPHA:800
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Follicular Lymphoma
Weight loss ORPHA:545
Rift Valley Fever
Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis ORPHA:319251
Parkinson Disease 4, Autosomal Dominant
Parkinsonism, Weight loss OMIM:605543
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Gliosis ORPHA:26791
Pleural Mesothelioma
Weight loss ORPHA:50251
Focal Myositis
Weight loss ORPHA:48918
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Spastic paraparesis, Broad-based gait, Small for gestational age, Decreased body weight ORPHA:391408
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Progressive spastic paraparesis, Spastic tetraparesis ORPHA:496756
Mast Cell Sarcoma
Weight loss ORPHA:66661
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Unsteady gait, Distal sensory impairment, Difficulty walking, Voca... ORPHA:600
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Gliosis, Parkinsonism, Apraxia OMIM:607485
Eosinophilic Fasciitis
Paresthesia, Weight loss ORPHA:3165
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Ataxia, Tremor, Obesity, Gait imbalance, Myoclonus ORPHA:98794
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Pfapa Syndrome
Weight loss ORPHA:42642
Camurati-Engelmann Disease
Waddling gait, Slender build, Ataxia, Cachexia ORPHA:1328
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Parkinsonism OMIM:600274
Aicardi-Goutieres Syndrome 9
Spastic tetraparesis, Spastic tetraplegia, Spastic diplegia, Weight loss, Lower limb hypertonia, ... OMIM:619487
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Impaired vibratory sensation, Somatic sensory dysfunction, Tremor, Inability to walk, Atrophy of ... ORPHA:466768
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Hand tremor, Weight loss ORPHA:424
Autosomal Recessive Spastic Paraplegia Type 20
Speech apraxia, Impaired vibratory sensation, Babinski sign, Slurred speech, Spastic dysarthria, ... ORPHA:101000
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Peripheral Primitive Neuroectodermal Tumor
Torticollis, Somatic sensory dysfunction, Spinal cord tumor, Weight loss ORPHA:370348
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Speech apraxia, Dystonia, Ataxia, Tremor, Inability to walk, Chorea, Athetosis, Hy... OMIM:615356
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Dystonia, Small for gestational age, Ataxia, Tremor, Dysmetria, Gliosis, Truncal ataxia, Spastici... OMIM:220111
Anaplastic Thyroid Carcinoma
Vocal cord paralysis, Weight loss ORPHA:142
Beta-Ketothiolase Deficiency
Spasticity, Ataxia, Extrapyramidal dyskinesia, Weight loss ORPHA:134
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Sjogren-Larsson Syndrome
Spasticity, Spastic paraparesis OMIM:270200
Hyperlysinemia
Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic diplegia, Dysmetr... ORPHA:2203
Charcot-Marie-Tooth Disease Type 4B2
Tremor, Inability to walk, Vocal cord paralysis, Distal sensory impairment, Poor fine motor coord... ORPHA:99956
Choreoacanthocytosis
Impaired vibratory sensation, Resting tremor, Self-mutilation of tongue and lips due to involunta... ORPHA:2388
Ataxia-Telangiectasia
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia... OMIM:208900
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss ORPHA:1842
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Tremor, Spastic diplegia, Tetraparesis, Failure to thrive OMIM:613179
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Incoordination, Ataxia, Spastic paraparesis ORPHA:369891
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis, Spasticity, Paralysis ORPHA:803
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia ORPHA:109
Gabriele-De Vries Syndrome
Waddling gait, Small for gestational age, Tremor, Gliosis, Dystonia ORPHA:506358
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, Limb dystonia ORPHA:25
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Small for gestational age, Failure to thrive in infancy, Ataxia, Hypertonia, Ga... ORPHA:268261
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia ORPHA:37042
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis OMIM:619338
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... OMIM:234200
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Adrenomyeloneuropathy
Dysesthesia, Atrophy of the spinal cord, Abnormal spinal cord morphology, Babinski sign, Progress... ORPHA:139399
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Failure to thrive, Ataxia OMIM:201100
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Familial Gestational Hyperthyroidism
Hand tremor, Weight loss ORPHA:99819
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Spasticity, Failure to thrive, Ataxia, Gliosis OMIM:124000
Seckel Syndrome
Cachexia ORPHA:808
Glossopharyngeal Neuralgia
Dysesthesia, Vocal cord paralysis, Weight loss ORPHA:221098
Alternating Hemiplegia Of Childhood
Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign, Choreoathetosis, ... ORPHA:2131
Epidermal Nevus Syndrome
Spinal cord compression, Atrophy of the spinal cord, Progressive spastic paraparesis, Babinski si... ORPHA:35125
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Vocal cord paralysis, Weight loss ORPHA:276621
Young-Onset Parkinson Disease
Tremor, Rigidity, Bradykinesia, Gait imbalance, Dystonia, Spasticity ORPHA:2828
Immunodeficiency 27A
Weight loss OMIM:209950
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Oculopharyngodistal Myopathy 1
Tremor, Ataxia, Difficulty walking, Weight loss OMIM:164310
Osteosarcoma
Weight loss ORPHA:668
Split Cord Malformation
Tethered cord, Cervical spina bifida, Paraparesis, Spinal cord tumor, Syringomyelia, Hydromyelia ORPHA:573278
Bullous Pemphigoid
Weight loss ORPHA:703
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cachexia, Weight loss ORPHA:275761
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Cap Polyposis
Weight loss ORPHA:160148
Takayasu Arteritis
Weight loss ORPHA:3287
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Spastic hemiparesis, Weight loss, Myoclonus, Spasticity ORPHA:20
Celiac Disease, Susceptibility To, 1
Failure to thrive, Ataxia, Weight loss OMIM:212750
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Obesity OMIM:614947
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis OMIM:231680
Nijmegen Breakage Syndrome
Glioma, Cachexia ORPHA:647
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lower limb spasticity, Large for gestational age, Upper limb spasticity, Gliosis, Spasticity OMIM:300868
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
D-Bifunctional Protein Deficiency
Failure to thrive, Gliosis OMIM:261515
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Alexander Disease
Ataxia, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Gait disturbance, Spasticit... ORPHA:58
Autosomal Recessive Spastic Paraplegia Type 55
Lower limb spasticity, Babinski sign, Distal sensory impairment, Poor fine motor coordination, Sp... ORPHA:320375
African Trypanosomiasis
Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements, Akinesia, Pa... ORPHA:3385
Eosinophilic Granulomatosis With Polyangiitis
Hemiplegia/hemiparesis, Gait disturbance, Weight loss ORPHA:183
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia OMIM:146500
Chronic Beryllium Disease
Weight loss ORPHA:133
Polymyositis
Gait disturbance, Weight loss ORPHA:732
Metachromatic Leukodystrophy
Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive... ORPHA:512
Giant Cell Arteritis
Ataxia, Paresthesia, Weight loss ORPHA:397
Kaposi Sarcoma
Weight loss ORPHA:33276
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Leishmaniasis
Weight loss ORPHA:507
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss ORPHA:47
Riddle Syndrome
Ataxia, Clumsiness, Weight loss, Gait disturbance, Poor hand-eye coordination ORPHA:420741
Polyarteritis Nodosa
Weight loss ORPHA:767
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Marfan Syndrome
Slender build, Cachexia, Dural ectasia ORPHA:558
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic... ORPHA:79102
Pemphigus Vulgaris
Weight loss ORPHA:704
Triosephosphate Isomerase Deficiency
Tremor, Unsteady gait, Dystonia, Spasticity, Failure to thrive OMIM:615512
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Microsporidiosis
Cachexia, Weight loss ORPHA:2552
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Nephroblastoma
Weight loss ORPHA:654
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Vocal cord paralysis, Weight loss ORPHA:29072
Juvenile Polyposis Of Infancy
Cachexia ORPHA:79076
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Weight loss ORPHA:171876
Isolated Permanent Neonatal Diabetes Mellitus
Apraxia, Failure to thrive, Ataxia, Weight loss ORPHA:99885
Papillorenal Syndrome
Gliosis OMIM:120330
Yao Syndrome
Weight loss OMIM:617321
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Stickler Syndrome
Hemiplegia/hemiparesis, Slender build, Cachexia ORPHA:828
Helsmoortel-Van Der Aa Syndrome
Truncal obesity, Failure to thrive, Gliosis, Obesity OMIM:615873
Familial Glucocorticoid Deficiency
Failure to thrive, Tetraplegia, Weight loss ORPHA:361
Alveolar Echinococcosis
Hemiparesis, Ataxia, Weight loss ORPHA:284
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss ORPHA:95427
Rheumatoid Arthritis
Weight loss OMIM:180300
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, Ataxia, Spastic tetraplegia, Distal sensory impairment, Myoclonus, Spastic parapares... OMIM:609136
Aicardi-Goutieres Syndrome 7
Lower limb spasticity, Spastic tetraparesis, Tetraplegia, Weight loss, Hypertonia, Tetraparesis, ... OMIM:615846
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Niemann-Pick Disease Type C
Axial dystonia, Lower limb spasticity, Speech apraxia, Dystonia, Ataxia, Tremor, Chorea, Abnormal... ORPHA:646
Loeffler Endocarditis
Weight loss ORPHA:75566
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Igg4-Related Aortitis
Weight loss ORPHA:449400
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Eales Disease
Myelopathy, Spastic paraparesis ORPHA:40923
Ménétrier Disease
Weight loss ORPHA:2494
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Argininemia
Progressive spastic quadriplegia, Frequent falls, Spastic gait, Spastic paraparesis OMIM:207800
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Parkinsonism, Syringomyelia, Dystonia, Myelitis ORPHA:1320
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Aicardi-Goutières Syndrome
Extrapyramidal muscular rigidity, Dystonia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal si... ORPHA:51
Biotinidase Deficiency
Myelopathy, Ataxia, Spastic paraparesis ORPHA:79241
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Erdheim-Chester Disease
Ataxia, Weight loss ORPHA:35687
Cutis Laxa, Autosomal Recessive, Type Iid
Failure to thrive, Gliosis OMIM:617403
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Norrie Disease
Hypertonia, Failure to thrive, Clonus, Cachexia ORPHA:649
Felty Syndrome
Weight loss ORPHA:47612
Short Syndrome
Weight loss ORPHA:3163
Pneumocystosis
Weight loss ORPHA:723
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Behçet Disease
Ataxia, Abnormal pyramidal sign, Weight loss, Hemiparesis, Gait disturbance, Paresthesia ORPHA:117
Poems Syndrome
Paresthesia, Hyperesthesia, Weight loss ORPHA:2905
Scheie Syndrome
Cerebral palsy, Spastic paraparesis ORPHA:93474
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Refractory Celiac Disease
Weight loss ORPHA:398063
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
8P23.1 Microdeletion Syndrome
Obesity, Weight loss ORPHA:251071
Multiple Myeloma
Spinal cord compression, Paresthesia, Weight loss ORPHA:29073
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Symptomatic Form Of Hfe-Related Hemochromatosis
Weight loss ORPHA:465508
Oculodentodigital Dysplasia
Spasticity, Ataxia, Gait disturbance, Spastic paraparesis ORPHA:2710
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Malignant Atrophic Papulosis
Pain insensitivity, Weight loss ORPHA:679
Solitary Fibrous Tumor
Weight loss ORPHA:2126
Simple Cryoglobulinemia
Paresthesia, Spontaneous pain sensation, Weight loss ORPHA:91139
Familial Thrombocytosis
Paresthesia, Weight loss ORPHA:71493
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss ORPHA:79128
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Klatskin Tumor
Weight loss ORPHA:99978
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Acrodermatitis Enteropathica
Failure to thrive, Weight loss ORPHA:37
Budd-Chiari Syndrome
Weight loss ORPHA:131
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Primary Intestinal Lymphangiectasia
Weight loss ORPHA:90362
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Bronchial Neuroendocrine Tumor
Weight loss ORPHA:97287
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Thymoma
Weight loss ORPHA:99867
Proteus Syndrome
Cachexia ORPHA:744
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Late-Onset Isolated Acth Deficiency
Failure to thrive, Weight loss ORPHA:199299
Cystic Echinococcosis
Weight loss ORPHA:400
Hereditary Amyloidosis With Primary Renal Involvement
Weight loss ORPHA:85450
Primary Hepatic Neuroendocrine Carcinoma
Weight loss ORPHA:100085
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Polycythemia Vera
Weight loss ORPHA:729
Al Amyloidosis
Weight loss ORPHA:85443
Mucolipidosis Type Ii
Inability to walk, Weight loss ORPHA:576
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Tsh-Secreting Pituitary Adenoma
Tremor, Periodic hypokalemic paresis, Weight loss ORPHA:91347
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss ORPHA:2298
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Spastic paraparesis OMIM:619234
Say-Barber-Miller Syndrome
Babinski sign, Ankle clonus, Lower limb hypertonia, Spastic paraparesis, Lingual dystonia ORPHA:3132
Tropical Endomyocardial Fibrosis
Cachexia ORPHA:75565
Diets-Jongmans Syndrome
Gliosis OMIM:618846
Ane Syndrome
Motor neuron atrophy ORPHA:157954
Hurler Syndrome
Cerebral palsy, Abnormal pyramidal sign, Spastic paraparesis ORPHA:93473
Brucellosis
Chorea, Failure to thrive, Small for gestational age, Weight loss ORPHA:1304
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Acute Adrenal Insufficiency
Failure to thrive, Weight loss ORPHA:95409
Kikuchi-Fujimoto Disease
Ataxia, Weight loss ORPHA:50918
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Juvenile Dermatomyositis
Weight loss ORPHA:93672
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Caroli Disease
Weight loss ORPHA:53035
Pancreatoblastoma
Weight loss ORPHA:677
Pyomyositis
Weight loss ORPHA:764
Q Fever
Weight loss ORPHA:781
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Igg4-Related Retroperitoneal Fibrosis
Weight loss ORPHA:49041
Castleman Disease
Weight loss ORPHA:160
Tropical Pancreatitis
Weight loss ORPHA:103918
Hermansky-Pudlak Syndrome
Weight loss ORPHA:79430
Stevens-Johnson Syndrome
Weight loss ORPHA:36426
Granulomatosis With Polyangiitis
Hemiplegia, Weight loss ORPHA:900
Toxic Epidermal Necrolysis
Weight loss ORPHA:537
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss ORPHA:309031
Malt Lymphoma
Weight loss ORPHA:52417
Immunodeficiency 31C
Weight loss OMIM:614162
Fanconi Anemia
Spina bifida, Weight loss ORPHA:84
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Rat-Bite Fever
Weight loss ORPHA:31205
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Addison Disease
Failure to thrive, Weight loss ORPHA:85138
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
Reactive Arthritis
Weight loss ORPHA:29207
Ppoma
Weight loss ORPHA:97278
Primary Sclerosing Cholangitis
Weight loss ORPHA:171
Somatostatinoma
Weight loss ORPHA:97283
Parathyroid Carcinoma
Weight loss ORPHA:143
Cystinosis, Nephropathic
Failure to thrive in infancy, Weight loss OMIM:219800
Zollinger-Ellison Syndrome
Weight loss ORPHA:913
Grfoma
Weight loss ORPHA:97261
Vipoma
Weight loss ORPHA:97282
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Shuffling gait, Weight loss ORPHA:740
Pulmonary Alveolar Microlithiasis
Weight loss ORPHA:60025
Glucagonoma
Weight loss ORPHA:97280
Multiple Endocrine Neoplasia Type 1
Ependymoma, Weight loss ORPHA:652
Postinfectious Vasculitis
Weight loss ORPHA:48435
Dermatomyositis
Weight loss ORPHA:221
Nocardiosis
Weight loss ORPHA:31204
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Igg4-Related Dacryoadenitis And Sialadenitis
Weight loss ORPHA:79078
Sarcoidosis, Susceptibility To, 1
Weight loss OMIM:181000
Microphthalmia, Syndromic 2
Spastic paraparesis, Decreased body weight OMIM:300166
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Weight loss ORPHA:90794
Igg4-Related Kidney Disease
Weight loss ORPHA:449395
Immunodeficiency 82 With Systemic Inflammation
Weight loss OMIM:619381
Cushing Syndrome Due To Ectopic Acth Secretion
Truncal obesity, Abdominal obesity, Increased body weight, Weight loss ORPHA:99889
Chronic Graft Versus Host Disease
Weight loss ORPHA:99921
Sarcoidosis
Weight loss ORPHA:797
Tubulointerstitial Nephritis And Uveitis Syndrome
Weight loss ORPHA:91500
Goodpasture Syndrome
Weight loss OMIM:233450

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ctsf

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ctsf.

No publications found that use IMPC mice or data for Ctsf.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ctsftm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ctsftm279988(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ctsftm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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