Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cathepsin F
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Ctsf mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ctsf by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function 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
Impaired proprioception, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramida... ORPHA:95434
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Gliosis, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordi... OMIM:213200
Primary Lateral Sclerosis, Adult, 1
Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spastic tetraparesis, ... OMIM:611637
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Dystonia OMIM:618093
Juvenile Primary Lateral Sclerosis
Gait imbalance, Abnormal pyramidal sign, Spastic dysarthria, Abnormal upper motor neuron morpholo... ORPHA:247604
Frontotemporal Dementia With Motor Neuron Disease
Paraparesis, Gliosis, Progressive cerebellar ataxia, Babinski sign, Parkinsonism, Weakness due to... ORPHA:275872
Huntington Disease-Like 2
Parkinsonism, Chorea, Gait disturbance, Involuntary movements, Weight loss, Dystonia ORPHA:98934
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... OMIM:614561
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Hand tremor, Degeneration of anterior horn cells, Distal sensory impairment, Gait distur... OMIM:604484
Autosomal Recessive Spastic Paraplegia Type 43
Poor fine motor coordination, Spastic paraparesis, Impaired vibratory sensation, Babinski sign, D... ORPHA:320370
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Paraparesis, Amyotrophic lateral sclerosis, Gliosis, Extrapyramidal dyskinesia, Parkinsonism, Tet... OMIM:105550
Spinocerebellar Ataxia, Autosomal Recessive 27
Torticollis, Gliosis, Frequent falls, Gait ataxia, Spasticity OMIM:618369
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait ataxia OMIM:617018
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Ataxia, Gait disturbance, Tremor, Impaired pain sensation ORPHA:99014
Alpers-Huttenlocher Syndrome
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... ORPHA:726
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gliosis, Athetosis, Paralysis, Dystonia OMIM:300857
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Gliosis, Bradykinesia, Dysmetria, Limb ataxia, Intention tremor, Myoclo... OMIM:607136
Spastic Paraparesis-Deafness Syndrome
Ataxia, Hemiplegia/hemiparesis, Spastic paraparesis, Gait disturbance, Impaired pain sensation ORPHA:2815
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Hand tremor, Dysmetria, Tip-toe gait, Babinski sign, Distal sensory impairment, Freq... OMIM:302800
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity, Impaired vibratory sensation ORPHA:217012
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Myoclonus, Rigidity, Progressive extrapyramidal movement disorde... OMIM:612736
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... OMIM:606693
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance OMIM:300660
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Abnormal motor neuron morphology, Impaired pain sensation, Impaired... DECIPHER:29
Spastic Ataxia 4, Autosomal Recessive
Babinski sign, Spastic ataxia, Spastic paraparesis OMIM:613672
Juvenile Amyotrophic Lateral Sclerosis
Oromandibular dystonia, Hypertonia, Ataxia, Axial dystonia, Inability to walk, Amyotrophic latera... ORPHA:300605
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait atax... ORPHA:423275
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Unsteady ... OMIM:616053
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... ORPHA:99
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction ORPHA:423296
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Huntington Disease
Gliosis, Bradykinesia, Rigidity, Chorea, Gait ataxia OMIM:143100
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Limb ataxia, Impaired vibration sensation in the lower limbs, Dystonia, Babinski sign... ORPHA:251282
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Gliosis, Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Somatic sensory dysfunction, Shu... OMIM:221820
Mast Syndrome
Spastic paraparesis, Babinski sign, Spastic paraplegia, Gait disturbance, Apraxia OMIM:248900
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Primary Lateral Sclerosis, Juvenile
Babinski sign, Spasticity of facial muscles, Spastic dysarthria, Spasticity of pharyngeal muscles... OMIM:606353
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Distal sensory impairment, Steppage gait OMIM:302802
Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic lateral sclerosis, Ataxia, Babinski sign, Spasticity of facial muscles, Difficulty wa... OMIM:205100
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Inability to walk, Opisthotonus, Babi... OMIM:607483
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Substantia nigra gliosis, Dystonia OMIM:600116
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait OMIM:616921
Huntington Disease-Like 1
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Gliosis, Simultanapraxia, Chor... ORPHA:157941
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Cogwheel rigidity, ... ORPHA:363710
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Primary Lateral Sclerosis
Cervical spinal cord atrophy, Babinski sign, Weakness due to upper motor neuron dysfunction, Spas... ORPHA:35689
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Gait ataxia, Cachexia OMIM:612075
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Myoclonus, Rigidity, Chore... ORPHA:248111
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Ataxia, Choreoathetosis, Spastic paraparesis ORPHA:67047
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Ataxia, Weight loss OMIM:613662
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Inability to walk, Myoclonus, Limb myoclonus, Frequent falls, Tremor, Difficulty walk... ORPHA:2590
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis, Myelopathy OMIM:159580
Polyglucosan Body Neuropathy, Adult Form
Distal sensory impairment, Tetraparesis, Spastic paraplegia, Gait disturbance, Abnormal upper mot... OMIM:263570
Huntington Disease-Like 2
Action tremor, Bradykinesia, Rigidity, Chorea, Weight loss, Dystonia OMIM:606438
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Ataxia, Hemiparesis OMIM:141500
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Impaired distal proprioception ORPHA:231445
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Familial Infantile Bilateral Striatal Necrosis
Hypertonia, Ataxia, Failure to thrive, Loss of ambulation, Myoclonus, Babinski sign, Rigidity, Ba... ORPHA:225154
Developmental And Epileptic Encephalopathy 14
Gliosis, Spasticity, Tetraplegia, Clonus OMIM:614959
Machado-Joseph Disease
Ataxia, Gliosis, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Impaired vibratory sen... OMIM:109150
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia OMIM:615889
Intellectual Developmental Disorder, Autosomal Dominant 56
Paraparesis, Ataxia, Spasticity OMIM:617854
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait OMIM:615768
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Riboflavin Transporter Deficiency
Cachexia, Tremor, Ataxia, Myoclonus ORPHA:97229
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity, Small for gestational age OMIM:278780
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Gliosis, Myoclonus, Abnormal pyramidal sign, Babinski sign, Astrocytosis, Spasticity, Upp... ORPHA:204
Intellectual Developmental Disorder, X-Linked 12
Gliosis, Small for gestational age, Increased body mass index, Hyperkinetic movements, Truncal ob... OMIM:300957
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... ORPHA:216873
Christianson Syndrome
Motor stereotypy, Cachexia, Truncal ataxia, Gait ataxia, Dystonia ORPHA:85278
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:168100
Spastic Paraplegia, Epilepsy, And Mental Retardation
Spastic paraplegia, Spastic paraparesis OMIM:182610
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, ... OMIM:270500
Pelizaeus-Merzbacher Disease, Connatal Form
Failure to thrive, Ataxia, Gliosis, Inability to walk, Titubation, Difficulty walking, Lower limb... ORPHA:280210
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gliosis, Myoclonus, Babinski sign, Gait disturbance, Abnormal upper motor neuron morphology, Spas... OMIM:221770
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:617917
Pelizaeus-Merzbacher Disease
Ataxia, Cachexia, Gait disturbance, Choreoathetosis, Spasticity, Dystonia, Failure to thrive in i... ORPHA:702
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Spastic Paraplegia 6, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Babinski sign, Spastic paraplegia, Tremor, Clonu... OMIM:600363
Boucher-Neuhauser Syndrome
Ataxia, Intention tremor, Gait ataxia, Abnormal upper motor neuron morphology, Spasticity OMIM:215470
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... ORPHA:314978
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... ORPHA:79262
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:614373
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Glutathionuria
Tremor OMIM:231950
Spinocerebellar Ataxia 23
Dysmetria, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Tremor, G... OMIM:610245
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Spastic paraparesis, Gait disturbance, Tremor, Difficulty walking, Somatic sen... ORPHA:101077
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Oromotor apraxia... ORPHA:454887
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Intention tremor, Abnormal motor neuron morphology, Head tremor OMIM:613724
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Failure to thrive OMIM:618951
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Abnormal pyramidal sign, Incoordination, Tremor, Unsteady gait, Obesity OMIM:614947
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance OMIM:210000
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function OMIM:615362
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology, Vocal cord paralysis OMIM:607641
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Gliosis, Hyperkinetic movements, Gait disturbance, Tremor, Upper limb spasticit... ORPHA:457240
Neurodegeneration With Brain Iron Accumulation 6
Oromandibular dystonia, Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Gait disturban... OMIM:615643
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Ankle clonus, Babinski sign, Tetraparesis, Abnormal lower motor ne... OMIM:613954
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia OMIM:615924
Primary Angiitis Of The Central Nervous System
Paraparesis, Ataxia, Parkinsonism, Hemiparesis, Tetraparesis, Paralysis ORPHA:140989
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia OMIM:607458
Spastic Paraplegia 50, Autosomal Recessive
Gliosis, Cerebral palsy, Babinski sign, Spastic paraplegia, Spastic tetraplegia OMIM:612936
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... OMIM:617284
Rett Syndrome
Gait apraxia, Cachexia, Stereotypical hand wringing, Truncal ataxia, Gait ataxia, Spasticity, Dys... OMIM:312750
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Somatic sensory dysfunct... ORPHA:98763
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Dysmetria, Rigidity, Gait disturbance, Tremor OMIM:618090
Autosomal Dominant Spastic Paraplegia Type 73
Impaired vibration sensation in the lower limbs, Babinski sign, Difficulty walking, Progressive s... ORPHA:444099
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Pontocerebellar Hypoplasia, Type 4
Hypertonia, Myoclonus, Gliosis, Spasticity OMIM:225753
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Rigidity, Parkinsonism, Tremor, Chor... OMIM:261640
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia ORPHA:157973
Spastic Paraplegia 78, Autosomal Recessive
Ataxia, Bradykinesia, Resting tremor, Impaired vibratory sensation, Abnormal pyramidal sign, Babi... OMIM:617225
X-Linked Creatine Transporter Deficiency
Hypertonia, Ataxia, Cachexia, Chorea, Athetosis, Dystonia ORPHA:52503
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Congenital Arthrogryposis With Anterior Horn Cell Disease
Inability to walk, Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology... OMIM:611890
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Gait disturbance, Tremor, Impaired distal vibration sensation,... ORPHA:276435
Huntington Disease
Gait imbalance, Clumsiness, Bradykinesia, Poor fine motor coordination, Inability to walk, Myoclo... ORPHA:399
Isaacs Syndrome
Fasciculations, Weight loss, Distal sensory impairment ORPHA:84142
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Spinocerebellar Ataxia, X-Linked 1
Intention tremor, Ataxia, Action tremor OMIM:302500
Leigh Syndrome
Failure to thrive, Ataxia, Gliosis, Spasticity, Dystonia OMIM:256000
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... ORPHA:521406
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Distal sensory impairment, Tremor, Gait ataxia, Steppage gait OMIM:618387
Mulibrey Nanism
Cachexia ORPHA:2576
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Vitamin B12-Unresponsive Methylmalonic Acidemia
Paraparesis, Ataxia, Choreoathetosis, Tetraparesis ORPHA:27
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia ORPHA:101005
Hemimegalencephaly
Abnormal neuron morphology, Myoclonus, Gliosis, Hemiparesis ORPHA:99802
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Failure to thrive, Babinski sign, Spastic paraplegia, Tremor, Difficulty walking ORPHA:477673
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Leukodystrophy, Hypomyelinating, 11
Failure to thrive, Ataxia, Myoclonus, Tremor, Spasticity OMIM:616494
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Spastic paraparesis, Myoclonus, Babinski sign, Frequent falls, Pro... ORPHA:254343
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tremor, Ataxia, Gliosis, Failure to thrive OMIM:220111
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Bradykinesia, Resting tremor OMIM:616710
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia, Impaired pain sensation ORPHA:101075
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Spas... OMIM:300423
Parkinson Disease 1, Autosomal Dominant
Gliosis, Bradykinesia, Resting tremor, Myoclonus, Rigidity, Parkinsonism, Gait disturbance, Shuff... OMIM:168601
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
X-Linked Adrenoleukodystrophy
Paraparesis, Clumsiness, Hemiparesis, Gait disturbance, Somatic sensory dysfunction, Progressive ... ORPHA:43
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Myoclonus, Gliosis, Abnormality of extrapyramidal motor function, Distal sensory impairment OMIM:604218
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Abnormal lower motor neuron morphology, Difficulty walking, Waddling gait OMIM:611067
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Babinski sign, Pallor of dors... OMIM:602433
Machado-Joseph Disease Type 3
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Degenera... ORPHA:276244
Microcephaly 10, Primary, Autosomal Recessive
Hypertonia, Gliosis, Spasticity, Small for gestational age OMIM:615095
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Failure to thrive, Dystonia OMIM:619651
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis, Hemiparesis OMIM:613002
Amyotrophic Lateral Sclerosis 5, Juvenile
Amyotrophic lateral sclerosis, Abnormal pyramidal sign, Babinski sign, Abnormal lower motor neuro... OMIM:602099
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Huntington Disease-Like 1
Dysmetria, Basal ganglia gliosis, Rigidity, Chorea, Unsteady gait, Incoordination OMIM:603218
Hereditary Late-Onset Parkinson Disease
Parkinsonism with favorable response to dopaminergic medication, Gliosis, Bradykinesia, Akinesia,... ORPHA:411602
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ambulation, Rigidity, Dystonia OMIM:615010
Leukoencephalopathy With Vanishing White Matter
Gait disturbance, Gliosis, Spasticity, Unsteady gait OMIM:603896
Pulmonary Blastoma
Weight loss ORPHA:64741
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypertonia, Gliosis, Babinski sign, Rigidity, Myoclonic spasms, Clonus OMIM:614498
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... ORPHA:391411
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Dysmetria, Myoclonus, Tremor, Lower limb spasticity, Impaired tandem gait OMIM:619028
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Flynn-Aird Syndrome
Cachexia, Ataxia, Impaired pain sensation ORPHA:2047
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... OMIM:604326
Hsd10 Disease
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Gait disturbance, Tremor, Choreoathetosis ORPHA:391417
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hypertonia, Inability to walk, Cachexia, Spasticity, Failure to thrive in infancy OMIM:616801
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic tetraparesis, Progressive spastic paraparesis, Spastic ataxia ORPHA:496756
Adrenoleukodystrophy
Paraparesis, Impaired vibration sensation at ankles, Limb ataxia, Truncal ataxia, Spastic paraple... OMIM:300100
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Hypertonia, Gliosis, Opisthotonus, Small for gestational age, Cerebral palsy, Babinski sign, Myoc... OMIM:619847
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Ataxia ORPHA:1933
Moynahan Syndrome
Cachexia ORPHA:2574
Progressive Supranuclear Palsy
Gliosis, Blepharospasm, Bradykinesia, Rigidity, Falls, Tremor, Unsteady gait, Dystonia ORPHA:683
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... OMIM:617145
Arnold-Chiari Malformation Type Ii
Paraparesis, Myelomeningocele, Ataxia, Opisthotonus, Paraplegia, Somatic sensory dysfunction, Dif... ORPHA:1136
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Hypertonia, Cachexia ORPHA:1389
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired vib... ORPHA:284324
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Tremor, Ataxia, Impaired pain sensation ORPHA:101078
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Epilepsy, Progressive Myoclonic, 6
Loss of ambulation, Ataxia, Myoclonus, Tremor, Difficulty walking OMIM:614018
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Dystonia OMIM:261630
Spastic Paraplegia 20, Autosomal Recessive
Upper limb spasticity, Spastic paraparesis, Dysmetria, Ankle clonus, Knee clonus, Babinski sign, ... OMIM:275900
Myopathy, Spheroid Body
Broad-based gait, Tremor, Waddling gait OMIM:182920
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Distal sensory impairment, Frequent falls, Tremor, Gait ataxia, Spasticity OMIM:616719
Dystonia 12
Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait, Dystonia OMIM:128235
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Dysmetria, Tip-toe gait, Intention tremor, Babinski sign, Abnorma... ORPHA:397946
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus OMIM:612016
Autosomal Recessive Spastic Paraplegia Type 11
Paraparesis, Ataxia, Inability to walk, Parkinsonism, Progressive spasticity, Gait disturbance, A... ORPHA:2822
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor, Gait ataxia... OMIM:137440
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis OMIM:105500
Spinocerebellar Ataxia, X-Linked 3
Gliosis, Dysmetria, Intention tremor, Unilateral vocal cord paralysis, Head titubation, Spasticit... OMIM:301790
Parkinson Disease 19A, Juvenile-Onset
Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ... OMIM:615528
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Myoclonus, Degeneration of anterior horn cells, Fasciculations, Frequent falls, Tremor, Difficult... OMIM:159950
X-Linked Intellectual Disability, Hedera Type
Action tremor, Inability to walk, Dysmetria, Extrapyramidal muscular rigidity, Babinski sign, Fre... ORPHA:93952
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Dystonia, Babinski sign, Spasticity OMIM:618186
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Tremor, Spasticity, Abnormality ... OMIM:164500
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Babinski sign, Distal sensory impairment, Tremor, Spasticity, Steppage gait OMIM:609260
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... ORPHA:99657
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Gait disturbance, Abnormal upper... OMIM:601162
Tuberculosis
Weight loss ORPHA:3389
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Abnormality of the dorsal column of the spinal cord, Hypertonia, Loss of ambulation, Clumsiness, ... ORPHA:137898
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, ... OMIM:615157
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Amyotrophic lateral sclerosis, Fasciculations OMIM:608030
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... ORPHA:363654
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Spastic Paralysis, Infantile-Onset Ascending
Babinski sign, Spastic paraplegia, Abnormal lower motor neuron morphology, Spastic tetraplegia, T... OMIM:607225
Urocanic Aciduria
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia ORPHA:210128
Monomelic Amyotrophy
Tremor, Fasciculations, Degeneration of anterior horn cells ORPHA:65684
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Ataxia, Upper motor neuron dysfunction, Clumsiness, Acroparesthesia, Spastic parapare... ORPHA:206443
Spastic Ataxia 5, Autosomal Recessive
Ataxia, Spastic paraparesis, Dysmetria, Myoclonus, Dysdiadochokinesis, Spasticity, Oculomotor apr... OMIM:614487
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Peroxisome Biogenesis Disorder 8B
Failure to thrive, Ataxia, Spastic paraparesis, Dysmetria, Spasticity OMIM:614877
Atypical Rett Syndrome
Loss of ambulation, Inability to walk, Hand apraxia, Pill-rolling tremor, Stereotypical hand wrin... ORPHA:3095
Neurodegeneration With Brain Iron Accumulation 4
Oromandibular dystonia, Ataxia, Loss of ambulation, Babinski sign, Parkinsonism, Abnormal pyramid... OMIM:614298
Spinal Arteriovenous Metameric Syndrome
Paraparesis, Abnormality of the spinal cord, Spinal arteriovenous malformation ORPHA:53721
Parkinsonism-Dystonia 2, Infantile-Onset
Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Tremor, Shuffling gait, Incoordinati... OMIM:618049
Progressive Non-Fluent Aphasia
Parkinsonism, Astrocytosis, Abnormal lower motor neuron morphology, Apraxia, Abnormality of extra... ORPHA:100070
Pick Disease Of Brain
Motor stereotypy, Gliosis OMIM:172700
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Spinocerebellar Ataxia 42
Ataxia, Impaired vibration sensation at ankles, Babinski sign, Abnormal pyramidal sign, Tremor, U... OMIM:616795
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Gliosis, Inability to walk, Cerebellar gliosis, Small for gestational age, Basal ganglia ... ORPHA:79243
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Ataxia, Tremor ORPHA:1368
Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:98293
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Opisthotonus, Tip-toe gait, Frequent falls, Gait disturbance, Spasticity, Weig... ORPHA:216866
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Unsteady gai... OMIM:617435
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Tremor, Broad-based gait, Motor stereotypy OMIM:619470
Spinocerebellar Ataxia Type 27
Akinesia, Hand tremor, Limb ataxia, Truncal ataxia, Gait disturbance, Tremor, Difficulty walking,... ORPHA:98764
Gabriele-De Vries Syndrome
Waddling gait, Tremor, Dystonia OMIM:617557
Perry Syndrome
Tremor, Weight loss, Parkinsonism, Abnormality of extrapyramidal motor function ORPHA:178509
Pelizaeus-Merzbacher Disease
Broad-based gait, Failure to thrive, Ataxia, Inability to walk, Intention tremor, Abnormal pyrami... OMIM:312080
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Myoclonus, Truncal ataxia, Chorea, Tremor, Gait ataxia OMIM:618587
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus, Writer's cramp OMIM:159900
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Rigidity, Tremor, Dystonia OMIM:617836
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Limb fasciculations, Distal sensory impairment, Tremor, Somatic sensory dysfun... ORPHA:90117
Parkinson Disease 17
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis OMIM:615119
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology, Waddling gait, Fasciculations, U... ORPHA:52430
Developmental And Epileptic Encephalopathy 82
Decreased body weight, Inability to walk, Spastic tetraplegia, Spastic paraparesis OMIM:618721
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Sh... OMIM:300055
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Tetraplegia/tetraparesis, Ankle clonus, Babinski sign, Progressive spasticity, Progressive spasti... ORPHA:506353
X-Linked Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:53351
Arachnoid Cyst
Paraparesis, Inability to walk, Abnormal spinal meningeal morphology, Hemiparesis, Distal sensory... ORPHA:2356
Mitochondrial Membrane Protein-Associated Neurodegeneration
Bradykinesia, Hand tremor, Spastic paraparesis, Babinski sign, Parkinsonism, Rigidity, Frequent f... ORPHA:289560
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Dystonia, Abnormality of extra... OMIM:300894
Neuroectodermal Melanolysosomal Disease
Hypertonia, Ataxia, Rigidity, Tremor, Spasticity ORPHA:33445
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Myoclonus, Myoclonic spasms, Chorea,... ORPHA:79263
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait a... OMIM:614831
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Gliosis, Pseudobulbar paralysis, Babinski sign, Spasticity OMIM:169500
Familial Dyskinesia And Facial Myokymia
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Difficulty walking, Dystonia ORPHA:324588
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity, Falls, T... ORPHA:240085
Leukodystrophy, Hypomyelinating, 6
Ataxia, Rigidity, Tremor, Choreoathetosis, Spasticity, Dystonia OMIM:612438
Spinocerebellar Ataxia 2
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Dysmetria, Impai... OMIM:183090
Developmental And Epileptic Encephalopathy 42
Hypertonia, Ataxia, Tremor, Athetosis OMIM:617106
Atypical Progressive Supranuclear Palsy Syndrome
Freezing of gait, Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Tremor by anatom... ORPHA:99750
Neurodegeneration With Brain Iron Accumulation 2A
Ataxia, Gliosis, Abnormal pyramidal sign, Spastic tetraplegia, Unsteady gait OMIM:256600
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Tay-Sachs Disease
Clumsiness, Gliosis, Poor fine motor coordination, Exaggerated startle response, Dysmetria, Laryn... ORPHA:845
Perry Syndrome
Akinesia, Bradykinesia, Rigidity, Parkinsonism, Tremor, Weight loss, Dystonia, Short stepped shuf... OMIM:168605
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Dystonia ORPHA:139485
Leukodystrophy, Hypomyelinating, 2
Ataxia, Spastic paraparesis, Intention tremor, Babinski sign, Rigidity, Head titubation, Progress... OMIM:608804
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Intellectual Developmental Disorder, X-Linked 104
Tremor, Ataxia, Spasticity OMIM:300983
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Spasticity, Oculomotor apraxia, Dystonia OMIM:612716
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Cachexia ORPHA:93941
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Ataxia ORPHA:42
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ataxia, Spastic paraparesis, Dysmetria, Myoclonus, Dysdiadochokinesis, Spastic dysarthria, Spasti... ORPHA:313772
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Dysmetria, Tremor, Gait ataxia, Spasticity, Apraxia OMIM:617810
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Loss of ambulation, Amyotrophic lateral sclerosis, Fasciculations, Tongue fasciculations OMIM:613435
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis OMIM:113610
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Cachexia ORPHA:2774
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Hypertonia, Gliosis, Spastic tetraplegia, Tetraplegia OMIM:608033
Mcdonough Syndrome
Cachexia ORPHA:2471
Oculopharyngodistal Myopathy
Loss of ambulation, Paraplegia, Difficulty walking, Vocal cord paresis, Weight loss ORPHA:98897
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Familial Acute Necrotizing Encephalopathy
Hypertonia, Gliosis, Rigidity, Gait disturbance, Spasticity, Spastic tetraplegia ORPHA:88619
Infantile Krabbe Disease
Failure to thrive, Opisthotonus, Ankle clonus, Decerebrate rigidity, Spastic diplegia, Myoclonus,... ORPHA:206436
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Abnormality of coordinat... ORPHA:352649
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia OMIM:608105
Congenital Neuronal Ceroid Lipofuscinosis
Abnormal astrocyte morphology, Gliosis, Spasticity ORPHA:168486
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
Combined Oxidative Phosphorylation Deficiency 14
Myoclonus, Gliosis OMIM:614946
Neuronal Intranuclear Inclusion Disease
Ataxia, Rigidity, Gait disturbance, Tremor, Somatic sensory dysfunction OMIM:603472
Pontocerebellar Hypoplasia, Type 2A
Gliosis, Opisthotonus, Extrapyramidal dyskinesia, Chorea, Dystonia OMIM:277470
Idiopathic Achalasia
Weight loss ORPHA:930
Coasy Protein-Associated Neurodegeneration
Oromandibular dystonia, Difficulty walking, Parkinsonism, Spastic paraparesis ORPHA:397725
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hypertonia, Inability to walk, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, H... OMIM:618877
Cerebrotendinous Xanthomatosis
Paraparesis, Ataxia, Gliosis, Spastic paraparesis, Resting tremor, Long-tract signs, Babinski sig... ORPHA:909
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Hypertonia, Ataxia, Dysmetria, Cerebellar gliosis, Intention tremor, Myoclonus, Babinski sign, Di... OMIM:616505
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Blepharospasm, Bradykinesia, Laryngeal dystonia, Babinski sign, Parkinsonism, Rigidity, C... OMIM:606159
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Ataxia With Vitamin E Deficiency
Hypertonia, Ataxia, Hemiplegia/hemiparesis, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sig... ORPHA:96
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Resting tremor, Parkinsonism, Tremor, Shuffling gait, Obesity, Lower limb spast... ORPHA:3077
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Failure to thrive, Ataxia, Inability to walk, Hypertonia, Tremor OMIM:619556
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Amyotrophic Lateral Sclerosis 11
Somatic sensory dysfunction, Upper motor neuron dysfunction, Amyotrophic lateral sclerosis OMIM:612577
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Intention tremor, Hemiparesis, Tremor, Spasticity OMIM:614307
Isolated Succinate-Coq Reductase Deficiency
Ataxia, Loss of ambulation, Spastic paraparesis, Babinski sign, Frequent falls, Spasticity, Lower... ORPHA:3208
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Distal sensory impairment OMIM:616668
Gaucher Disease, Type Iii
Myoclonus, Ataxia, Decreased body weight, Spastic paraparesis OMIM:231000
Poliomyelitis
Paraparesis, Inability to walk, Hyperkinetic movements, Myelitis, Paralysis, Paresthesia, Fascicu... ORPHA:2912
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Chorea, Progressive extrapy... ORPHA:401768
Hypermanganesemia With Dystonia 2
Oromandibular dystonia, Clumsiness, Bradykinesia, Inability to walk, Opisthotonus, Tip-toe gait, ... OMIM:617013
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Clumsiness, Bradykinesia, Freezing of gait, Resting tremor, Rigidity, Parkinsonism, Pos... OMIM:619911
Oromandibular Dystonia
Torticollis, Lingual dystonia, Blepharospasm, Laryngeal dystonia, Hyperkinetic movements, Limb dy... ORPHA:93958
Supranuclear Palsy, Progressive, 1
Gait imbalance, Akinesia, Gliosis, Bradykinesia, Axial dystonia, Retrocollis, Rigidity, Parkinson... OMIM:601104
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tip-toe gait, Babinski sign, Spastic paraplegia, Tremor, Gait disturbance, Abnormal astrocyte mor... ORPHA:83629
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Choreoathetosis, Involuntary movements, Parox... OMIM:606703
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypertonia, Ataxia, Gliosis, Failure to thrive, Myoclonus, Astrocytosis, Paralysis OMIM:203700
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Abnormality of extrapyram... ORPHA:98773
Adult Krabbe Disease
Hemiplegia, Broad-based gait, Ataxia, Clumsiness, Acroparesthesia, Hoffmann sign, Babinski sign, ... ORPHA:206448
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Babinski sign, Spastic paraplegia, Tremor, Gait disturbance, Spasticity, ... OMIM:616586
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Limb ataxia, Truncal ataxia, Chorea, Distal sensory impairment, Tremo... OMIM:208920
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Dystonia ORPHA:329284
L-2-Hydroxyglutaric Aciduria
Spastic tetraparesis, Abnormal pyramidal sign, Gliosis, Abnormality of extrapyramidal motor function OMIM:236792
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Oculogyric crisis, Tremor, Difficulty walking, Dystonia ORPHA:330050
Hypermanganesemia With Dystonia 1
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, ... OMIM:613280
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Spastic tetraplegia, Severe failure to thrive, Hyperesthesia ORPHA:371364
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Parkinsonism, Hemiparesis, Tremor, Difficulty walking, Dystonia ORPHA:306669
Dopa-Responsive Dystonia
Leg dystonia, Inability to walk, Poor coordination, Abnormality of extrapyramidal motor function,... ORPHA:255
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Degeneration of anterior horn cells, Gliosis, Parkinsonism, Trophic limb changes OMIM:118301
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Tremor, Obesity, Cachexia ORPHA:85293
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Choreoathetosis, Dystonia OMIM:612126
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Spastic Paraplegia 75, Autosomal Recessive
Spastic paraparesis, Babinski sign, Dysmetria, Spastic dysarthria OMIM:616680
Mitochondrial Neurogastrointestinal Encephalomyopathy
Paresthesia, Cachexia, Weight loss ORPHA:298
Spinocerebellar Ataxia 15
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Postural tremor OMIM:606658
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:619738
Supranuclear Palsy, Progressive, 2
Gait imbalance, Akinesia, Gliosis, Bradykinesia, Axial dystonia, Retrocollis, Rigidity, Parkinson... OMIM:609454
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Clumsiness, Progressive cerebellar ataxia, Bradykin... ORPHA:282166
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Tremor, Dysdiadochokinesis, Truncal ataxia, Dysmetria OMIM:610185
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Dysmetria, Tremor, Titubation, Unsteady gait OMIM:619405
Non-Specific Early-Onset Epileptic Encephalopathy
Failure to thrive, Ataxia, Limb hypertonia, Myoclonus, Rigidity, Tremor, Difficulty walking, Invo... ORPHA:442835
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Small for gestational age, Limb hypertonia, Cerebral palsy, Rigidity, Oculogyric cr... ORPHA:70594
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Hypertonia, Ataxia, Myoclonus, Tremor, Gait ataxia, Impaired tactile sensation OMIM:619092
Leukodystrophy, Hypomyelinating, 3
Failure to thrive, Abnormal pyramidal sign, Spastic paraparesis OMIM:260600
Acute Transverse Myelitis
Paraparesis, Impaired vibratory sensation, Babinski sign, Dissociated sensory loss, Paraplegia, S... ORPHA:139417
Renpenning Syndrome
Cachexia ORPHA:3242
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Gliosis, Myoclonus, Chorea, Gait ataxia, Spastic tetraplegia, Dystonia, Generalized dystonia OMIM:618321
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis, Loss of ambulation OMIM:615515
X-Linked Charcot-Marie-Tooth Disease Type 2
Hand tremor, Spastic paraparesis, Clasp-knife sign, Babinski sign, Distal sensory impairment, Gai... ORPHA:101076
Subacute Inflammatory Demyelinating Polyneuropathy
Positive Romberg sign, Distal sensory impairment, Frequent falls, Tremor, Somatic sensory dysfunc... ORPHA:206594
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Peroxisome Biogenesis Disorder 5B
Ataxia, Dysmetria, Tremor, Unsteady gait, Oculomotor apraxia OMIM:614867
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Loss of ambulation, Dysmetria, Babinski sign, Tremor, Spasticity, Postural tremor, Dystonia OMIM:607694
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Dysmetria, Tremor, Gait ataxia, Spasticity, Poor motor coordination, Oculomotor apraxia ORPHA:1170
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Loss of ambulation, Abnormal pyramidal sign, Fasciculations, Postu... OMIM:608627
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Dystonia OMIM:233910
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Cln5 Disease
Ataxia, Poor gross motor coordination, Clumsiness, Inability to walk, Dysmetria, Dysdiadochokines... ORPHA:228360
Foix-Alajouanine Syndrome
Gait imbalance, Hyperintensity of MRI T2 signal of the spinal cord, Dysesthesia, Myelopathy, Myel... ORPHA:79093
Dentatorubral Pallidoluysian Atrophy
Oromandibular dystonia, Ataxia, Action tremor, Progressive cerebellar ataxia, Dyssynergia, Limb a... ORPHA:101
Whipple Disease
Cachexia, Ataxia, Abnormal pyramidal sign, Myoclonus ORPHA:3452
4H Leukodystrophy
Ataxia, Dysmetria, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dystonia, Upper motor neu... ORPHA:289494
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor, Weight loss OMIM:613239
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Pseudobulbar paralysis, Degeneration of anterior horn cells, Spast... OMIM:105400
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Gliosis, Vestibular areflexia, Spastic tetraplegia, Head titubation ORPHA:3240
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Gliosis, Small for gestational age OMIM:214150
Mannosidosis, Alpha B, Lysosomal
Gliosis, Limb ataxia, Abnormal pyramidal sign, Babinski sign, Gait ataxia, Spasticity, Spinocereb... OMIM:248500
Mitochondrial Complex I Deficiency, Nuclear Type 2
Gliosis, Ankle clonus, Falls, Difficulty walking, Dystonia OMIM:618222
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Incoordination OMIM:608768
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Paget Disease Of Bone 2, Early-Onset
Paraparesis, Long-tract signs, Tetraparesis OMIM:602080
Tetrasomy 12P
Cachexia ORPHA:884
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Recurrent hand flapping, Poor coordination, Gait disturbance, Tremor, Abnormality of pain... ORPHA:544254
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Ataxia, Abnormal pyramidal sign, Incoordination, Spina bifida occulta, Tremor, Oculomotor apraxia... OMIM:618060
Parkinson Disease 14, Autosomal Recessive
Loss of ambulation, Clumsiness, Bradykinesia, Axial dystonia, Hand tremor, Resting tremor, Ankle ... OMIM:612953
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Gait ataxia, Spasticity, Limb d... ORPHA:363400
Adducted Thumbs Syndrome
Myelin-dependent gliosis OMIM:201550
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Ataxia, Gliosis, Myoclonus, Babinski sign, Truncal ataxia, Truncal obesity, Spasticity, Lower lim... OMIM:301072
Fragile X Tremor/Ataxia Syndrome
Action tremor, Bradykinesia, Poor fine motor coordination, Resting tremor, Dysmetria, Intention t... OMIM:300623
Fatty Acid Hydroxylase-Associated Neurodegeneration
Loss of ambulation, Progressive spastic quadriplegia, Progressive extrapyramidal movement disorde... ORPHA:329308
Saccharopinuria
Spastic diplegia, Gait ataxia, Distal sensory impairment, Tremor ORPHA:3124
Leigh Syndrome
Failure to thrive, Ataxia, Gliosis, Spastic diplegia, Hyperkinetic movements, Chorea, Athetosis, ... ORPHA:506
Chronic Hiccup
Weight loss ORPHA:396
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Polyminimyoclonus, Tremor, Impaired distal vibration sensation, Vocal cord paresis, Impaired pain... OMIM:619574
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, Tremor, Inability to walk, Spasticity OMIM:618718
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Ataxia-Telangiectasia
Failure to thrive, Ataxia, Gait disturbance, Tremor, Spasticity ORPHA:100
Classic Progressive Supranuclear Palsy Syndrome
Gait imbalance, Parkinsonism with favorable response to dopaminergic medication, Progressive extr... ORPHA:240071
Multiple System Atrophy
Axial dystonia, Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Abnormal pyramidal s... ORPHA:102
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Ataxia, Cataplexy, Gliosis, Inability to walk, Upper limb spasticity, Tongue fasciculations, Lowe... OMIM:617193
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia, Ataxia, Spasticity ORPHA:220295
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Hypertonia, Oromandibular dystonia, Inability to walk, Blepharospasm, Babinski sign,... OMIM:128100
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Sensory ataxia, Spastic paraparesis, Impaired vibratory sensation, Babinski sign, Difficulty walk... OMIM:500013
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Ataxia, Myoclonus, Spinal cord compression, Weight loss OMIM:256700
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Babinski sign, Tremor, Impaired distal vibration sensation, Spasticity, Hypertonia, Actio... ORPHA:99027
Spontaneous Periodic Hypothermia
Gait disturbance, Tremor, Ataxia ORPHA:29822
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Fasciculations, Spasticity OMIM:614808
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity OMIM:612069
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Dysmetria, Tremor, Difficulty walking, Gait ataxia, Spasticity, Oculomotor apraxia ORPHA:529665
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Lissencephaly, X-Linked, 2
Gliosis, Spasticity OMIM:300215
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... OMIM:607671
Progressive Multifocal Leukoencephalopathy
Hemiplegia/hemiparesis, Dysmetria, Parkinsonism, Weakness due to upper motor neuron dysfunction, ... ORPHA:217260
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Paraparesis, Paraplegia, Hemiparesis, Failure to thrive in infancy ORPHA:79124
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor, Substantia nigra gliosis, Dystonia,... OMIM:168600
Autosomal Dominant Spastic Paraplegia Type 9A
Abnormality of the dorsal column of the spinal cord, Impaired vibration sensation in the lower li... ORPHA:447753
Japanese Encephalitis
Hypertonia, Hyperintensity of MRI T2 signal of the spinal cord, Opisthotonus, Respiratory paralys... ORPHA:79139
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Ataxia, Sensory ataxia, Hypoesthesia, Dysmetria, Myoclonus, Babinski sign, Posi... OMIM:607459
Classic Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:391
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Spastic paraparesis, Poor coordination, Impaired vibratory sensation, Abnormal... OMIM:238970
Pyruvate Dehydrogenase Deficiency
Ataxia, Cerebral palsy, Abnormal pyramidal sign, Gait disturbance, Tremor, Choreoathetosis, Spast... ORPHA:765
Farber Disease
Paraparesis, Failure to thrive, Myoclonus, Spasticity ORPHA:333
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Resting tremor, Intention tremor, Dysdiadochokinesis, Babinski sign, Parkinsoni... ORPHA:247234
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Spasticity OMIM:611895
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Distal sensory impairment OMIM:607734
Wolman Disease
Cachexia ORPHA:75233
Fatal Familial Insomnia
Ataxia, Weight loss, Myoclonus OMIM:600072
Mohr-Tranebjaerg Syndrome
Oromandibular dystonia, Inability to walk, Ankle clonus, Babinski sign, Abnormal pyramidal sign, ... ORPHA:52368
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Hemiplegia, Cachexia ORPHA:3217
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Fasciculations OMIM:619141
Combined Oxidative Phosphorylation Defect Type 7
Failure to thrive, Ataxia, Inability to walk, Spastic paraparesis, Abnormal pyramidal sign, Dista... ORPHA:254930
Aredyld Syndrome
Cachexia ORPHA:1133
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait at... OMIM:614381
Combined Oxidative Phosphorylation Deficiency 54
Hypertonia, Hypoesthesia, Impaired vibratory sensation, Hemiparesis, Tremor, Obesity OMIM:619737
Majeed Syndrome
Failure to thrive, Weight loss, Cachexia ORPHA:77297
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Rhabdoid Tumor
Hemiplegia, Cerebral palsy, Weight loss ORPHA:69077
Migraine, Familial Hemiplegic, 2
Hemiplegia, Dysmetria, Hemiparesis, Tremor, Gait ataxia, Apraxia, Episodic ataxia OMIM:602481
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Paresthesia, Cachexia OMIM:175500
Generalized Epilepsy With Febrile Seizures-Plus
Ataxia, Bradykinesia, Poor fine motor coordination, Tremor, Incoordination ORPHA:36387
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Ataxia, Babinski sign, Parkinsonism OMIM:615911
Pelizaeus-Merzbacher Disease In Female Carriers
Inability to walk, Spastic paraparesis, Hand apraxia, Babinski sign, Gait disturbance, Difficulty... ORPHA:280229
Bilateral Perisylvian Polymicrogyria
Paraparesis, Pseudobulbar paralysis, Dysmetria, Limb hypertonia, Oromotor apraxia, Spasticity, Sp... ORPHA:98889
Sneddon Syndrome
Tremor, Hemiparesis, Chorea ORPHA:820
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Hypoesthesia, Allodynia, Cachexia, Distal sensory impairment, Weight loss OMIM:603041
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Action tremor, Gliosis, Decreased body weight, Dysmetria, Myoclonus, Hyperkin... OMIM:615273
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Spastic paraparesis, Hand tremor, Dysmetria, Truncal obesity, Unsteady gait ORPHA:3041
Combined Oxidative Phosphorylation Deficiency 24
Gliosis, Spasticity OMIM:616239
19Q13.11 Microdeletion Syndrome
Failure to thrive, Cachexia ORPHA:217346
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Failure to thrive, Lingual dystonia, Action tremor, Gliosis, Inability to walk, Small for gestati... ORPHA:404454
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... OMIM:606324
Jaberi-Elahi Syndrome
Broad-based gait, Failure to thrive, Inability to walk, Dysmetria, Appendicular spasticity, Tremo... OMIM:617988
Igg4-Related Pachymeningitis
Paraparesis, Somatic sensory dysfunction, Abnormal spinal dura mater morphology, Spinal cord comp... ORPHA:449427
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Gait disturbance, Tremor, Hypertonia ORPHA:1192
Oculodentodigital Dysplasia
Paraparesis, Ataxia, Spasticity, Tetraparesis OMIM:164200
Cockayne Syndrome
Hypertonia, Ataxia, Action tremor, Gliosis, Inability to walk, Intention tremor, Cachexia, Limb h... ORPHA:191
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Holocarboxylase Synthetase Deficiency
Ataxia, Weight loss ORPHA:79242
Multiple Carboxylase Deficiency
Ataxia, Spinal cord posterior columns myelin loss, Spastic paraparesis ORPHA:148
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Gm1 Gangliosidosis
Failure to thrive, Ataxia, Decerebrate rigidity, Gait disturbance, Tremor, Spasticity, Unsteady g... ORPHA:354
Infantile-Onset X-Linked Spinal Muscular Atrophy
Degeneration of anterior horn cells, Tongue fasciculations, Abnormal anterior horn cell morphology ORPHA:1145
Xeroderma Pigmentosum, Complementation Group F
Tremor, Ataxia, Decreased body weight OMIM:278760
Parkinson-Dementia Syndrome
Tremor, Rigidity, Abnormal pyramidal sign, Parkinsonism OMIM:260540
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Limb ataxia, Abnormal pyramidal sign, Head tremor, Chorea, Tremor, Impaired distal vibration sens... OMIM:606002
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Tremor, Failure to thrive OMIM:617744
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apraxia, Gliosis, Parkinsonism, Repetitive compulsive behavior OMIM:607485
Waardenburg Syndrome, Type 4A
Ataxia, Spastic paraparesis OMIM:277580
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Failure to thrive, Ataxia, Spastic paraparesis, Hemiparesis, Lower limb spasticity, Gait disturba... ORPHA:395
Myopathy With Extrapyramidal Signs
Ataxia, Clumsiness, Chorea, Frequent falls, Tremor, Difficulty walking, Choreoathetosis, Clonus, ... OMIM:615673
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertonia, Action tremor, Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Dysdi... ORPHA:309854
Primary Myelofibrosis
Cachexia ORPHA:824
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:606070
Silver-Russell Syndrome
Obesity, Failure to thrive in infancy, Cachexia ORPHA:813
Non-Functioning Paraganglioma
Tremor, Weight loss, Vocal cord paralysis ORPHA:94080
Parkinson Disease 20, Early-Onset
Bradykinesia, Rigidity, Parkinsonism, Eyelid apraxia, Tremor, Shuffling gait, Dystonia OMIM:615530
Molybdenum Cofactor Deficiency, Complementation Group B
Hypertonia, Gliosis, Opisthotonus, Myoclonic spasms, Spastic tetraplegia OMIM:252160
Familial Colorectal Cancer Type X
Hypertonia, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Gait disturbance, Glioblastoma multi... ORPHA:440437
Xfe Progeroid Syndrome
Failure to thrive, Cachexia, Poor coordination OMIM:610965
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Kleefstra Syndrome Due To A Point Mutation
Large for gestational age, Failure to thrive, Gliosis ORPHA:261652
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Broad-based gait, Ataxia, Recurrent hand flapping, Myoclonus, Tongue thrusting, T... ORPHA:98794
Lynch Syndrome
Hypertonia, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Gait disturbance, Glioblastoma multi... ORPHA:144
Wilson Disease