banner
Genes Phenotypes Help, News, Blog

Gene: Clp1 MGI:2138968

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
CLP1, cleavage and polyadenylation factor I subunit
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 Clp1 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 Clp1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pontocerebellar Hypoplasia Type 10
Optic atrophy, Spasticity, Abnormal cerebral cortex morphology, Hypertonia, Poor head control, Si... ORPHA:411493
Pontocerebellar Hypoplasia, Type 10
Cerebral cortical atrophy, Spasticity, Kyphoscoliosis, Syringomyelia, Short neck, Limb hypertonia... OMIM:615803

The table below shows human diseases predicted to be associated to Clp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Charcot-Marie-Tooth Disease Type 2B1
Proximal muscle weakness in lower limbs, Hand muscle atrophy, Distal sensory impairment, Proximal... ORPHA:98856
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Cerebe... OMIM:615268
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Distal amyotrophy, Decreased motor nerve conduction velocity, Tip-toe gait, Fasciculations, Foot ... OMIM:614436
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Difficulty walking, Distal sensory impairment, Paraparesis, Tip-toe gait, Hand tr... OMIM:302800
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy OMIM:605388
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim... ORPHA:171622
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Proximal muscle weakness in lower limbs, Distal upper limb muscle weakness, Quadriceps muscle wea... ORPHA:482601
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait OMIM:616410
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Somatic sensory dysfunction, Progressive spastic paraplegia, Distal s... ORPHA:101010
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Spinocerebellar Ataxia Type 5
Incoordination, Gait disturbance, Cerebellar atrophy, Slurred speech ORPHA:98766
Charcot-Marie-Tooth Disease, Axonal, Type 2U
Distal amyotrophy, Hand muscle weakness, Difficulty walking, Foot dorsiflexor weakness, Hand musc... OMIM:616280
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor ORPHA:217012
Spastic Paraplegia 32, Autosomal Recessive
Spastic paraplegia, Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Ankle clonus, Babin... OMIM:611252
Spinocerebellar Ataxia 37
Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Myopathy And Diabetes Mellitus
Sternocleidomastoid amyotrophy, Impaired vibratory sensation, Weakness of orbicularis oculi muscl... ORPHA:2596
Miyoshi Myopathy
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Tip-toe gait, Shoulder girdl... ORPHA:45448
Spastic Paraplegia 38, Autosomal Dominant
Spastic paraplegia, Distal amyotrophy, Lower limb muscle weakness, Thenar muscle weakness, Impair... OMIM:612335
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... OMIM:616053
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Spastic Paraplegia 43, Autosomal Recessive
Ankle flexion contracture, Spasticity, Distal amyotrophy, Spastic paraplegia, Optic atrophy, Knee... OMIM:615043
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Distal sensory impairment, Proximal muscle weakness, Decreased numbe... OMIM:604484
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Spasticity, Cerebellar atrophy, Chiari type I malformation, Babinski sign, Impaired dista... OMIM:619742
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal upper limb muscle weakness, Decreased motor nerve conduction velocity, Difficulty walking,... OMIM:605285
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,... OMIM:617018
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... OMIM:607641
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:617769
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Tremor, Ataxia OMIM:213000
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Nonprogressive cerebellar a... ORPHA:94122
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Leukoencephalopathy, Spasticity, Skeletal muscle atrophy, Tremor, Babinski sign, Peripheral axona... OMIM:611105
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Cerebellar atrophy, Ataxia OMIM:619333
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:617133
Spastic Paraplegia 57, Autosomal Recessive
Spastic paraplegia, Optic atrophy, Somatic sensory dysfunction, Hand muscle atrophy, Loss of ambu... OMIM:615658
Amyotrophic Lateral Sclerosis 8
Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Postur... OMIM:608627
Neuronopathy, Distal Hereditary Motor, X-Linked
Abnormal peripheral nervous system morphology, Distal amyotrophy, Distal sensory impairment, Spin... OMIM:300489
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Amyotrophic Lateral Sclerosis 4, Juvenile
Distal amyotrophy, Amyotrophic lateral sclerosis, Difficulty walking, Decreased compound muscle a... OMIM:602433
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Cerebellar vermis atrophy, Difficulty walking, Limb ataxia, Truncal ataxia, Brain atrophy ORPHA:363432
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Small hand, Global brain atrophy, Cerebellar atrophy, Broad-based gait, Aplasia of the inferior h... OMIM:610185
Amyotrophic Lateral Sclerosis Type 4
Spastic paraplegia, Skeletal muscle atrophy, Somatic sensory dysfunction, Babinski sign, Gait dis... ORPHA:357043
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Difficulty walking, ... ORPHA:284332
Dystonia 23
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Myoclonus, Limb dystonia, Axial dysto... OMIM:614860
Spastic Paraplegia 73, Autosomal Dominant
Spastic paraplegia, Skeletal muscle atrophy, Difficulty walking, Prolonged central motor conducti... OMIM:616282
Ceroid Lipofuscinosis, Neuronal, 8
Ataxia, Cerebellar atrophy, Cerebral atrophy, Myoclonus, Loss of ambulation, Increased neuronal a... OMIM:600143
Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction
Spasticity, Cerebellar atrophy, Cerebral atrophy, Spastic tetraparesis, Gait disturbance, Dystonia OMIM:620515
Spinocerebellar Ataxia 35
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Incoordination, Dysmetria, Loss o... OMIM:613908
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Temporal cortical atrophy, Pelvic girdle muscle ... OMIM:167320
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1
Distal amyotrophy, Upper limb muscle weakness, Chronic axonal neuropathy, Babinski sign, Hyperton... OMIM:182960
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Spinocerebellar Ataxia 31
Cerebellar atrophy, Limb ataxia, Gait ataxia, Ataxia OMIM:117210
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Difficulty walking, Distal sensory impairment, Paralysis, Peripheral axo... OMIM:613710
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Craniofacial dystonia, Torticollis, Dystonia, Progressive cerebellar ataxia OMIM:611694
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morpholo... ORPHA:98762
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Distal amyotro... OMIM:601596
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb d... ORPHA:363710
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Nescav Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Inability to walk, A... OMIM:614255
Spastic Paraplegia 63, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Abnormal periventricular white matter morphology, Hy... OMIM:615686
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Distal sensory impairment, Spinal muscul... OMIM:614881
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, A... OMIM:614561
Spinocerebellar Ataxia Type 43
Distal amyotrophy, Distal upper limb muscle weakness, Cerebellar vermis atrophy, Limb ataxia, Cog... ORPHA:497764
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Distal amyotrophy, Basal lamina onion bulb formation, Decreased motor... OMIM:214400
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Skeletal muscle atrophy, Somatic sensory dysfunction, Difficulty walking, Distal lower limb muscl... OMIM:615025
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li... OMIM:607706
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr... ORPHA:276193
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue fasciculations, Tip-toe gait, Lower limb muscle weakness, Angulated muscle fibers, General... OMIM:620285
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd
Distal amyotrophy, Foot dorsiflexor weakness, Steppage gait, Distal muscle weakness, Impaired dis... OMIM:618036
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Cerebellar atrophy, Laryngeal dystonia, Gait ataxia, Kinetic tremor, ... ORPHA:101110
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Tremor, Ankle clonus, Loss of ambulation, Babin... ORPHA:521406
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Difficulty walking, Axial dystonia, Opisthotonus, Cachexia, Parkin... ORPHA:300605
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk... OMIM:615768
Amyotrophic Lateral Sclerosis 16, Juvenile
Loss of ambulation, Weakness of the intrinsic hand muscles, Lower limb spasticity, Amyotrophic la... OMIM:614373
Hereditary Motor And Sensory Neuropathy V
Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Difficulty walking, Lim... OMIM:600361
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at... OMIM:616948
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Distal amyotrophy, Cerebellar atrophy, Muscle weakness, Chorea, Limb ataxia, Gait ataxia, Distal ... OMIM:208920
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal sensory impairment, Paresis of extensor muscles of the big toe, Poor fine motor coordinati... ORPHA:99947
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Difficulty walking, Progressive distal muscle wea... ORPHA:399086
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Myoclonus, Rigidity, Ataxia, Intention tremor OMIM:618876
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Tongue fasciculations, Spasticity, Global brain atrophy, Skeletal muscle atrophy, Hypoplasia of t... OMIM:618276
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... OMIM:616291
Spinocerebellar Ataxia Type 25
Diffuse cerebellar atrophy, Impaired pain sensation, Gait ataxia, Distal sensory impairment, Abno... ORPHA:101111
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Somatic sensory dysfun... OMIM:158600
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata... ORPHA:95434
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Distal amyotrophy, Difficulty walking, Rhabdomyolysis, D... ORPHA:399096
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Upper limb muscle weakness, Lower limb muscle weakness, Foot dorsiflexor weakness, Distal sensory... OMIM:616155
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, Distal sensory impairment,... OMIM:601472
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Difficulty walking, Neck muscle weakness, Limb muscle weakn... OMIM:500002
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in lower limbs, Vocal cord paresis, Peripheral demyelination, Distal sen... ORPHA:101097
X-Linked Progressive Cerebellar Ataxia
Spinocerebellar tract degeneration, Frequent falls, Cerebellar vermis atrophy, Limb ataxia, Inten... ORPHA:1175
Amyotrophic Lateral Sclerosis 2, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Difficulty walking, Hand muscle atrophy, Abnormal exte... OMIM:205100
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic atrophy, Impaired pain sensation, Upper limb muscle weakness, Lower limb muscle weakness, C... OMIM:618511
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Proximal muscle weakness in lower limbs, Broad-based gait, Difficulty walking, Impaired vibration... ORPHA:435387
Charcot-Marie-Tooth Disease, Axonal, Type 2W
Distal amyotrophy, Distal sensory impairment, Gait disturbance, Steppage gait, Distal muscle weak... OMIM:616625
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Leg muscle stiffness, Ankle weakness, Foot dorsiflexor w... ORPHA:98912
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... OMIM:610245
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady... OMIM:302500
Spinal Muscular Atrophy, Type Iii
Shoulder girdle muscle atrophy, Tongue fasciculations, Distal amyotrophy, Lower limb muscle weakn... OMIM:253400
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Hyporeflexia of upper limbs, Gait ataxia, Ataxia, Unsteady gait OMIM:615705
Autosomal Recessive Spastic Paraplegia Type 43
Ankle flexion contracture, Impaired vibratory sensation, Distal amyotrophy, Spasticity, Spastic p... ORPHA:320370
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Distal amyotrophy, Distal sensory impairment, Decreased number of peripheral myelinated nerve fib... OMIM:606482
Mitochondrial Dna Depletion Syndrome 18
Tongue fasciculations, Distal amyotrophy, Falls, Microcytic anemia, Foot dorsiflexor weakness, Ha... OMIM:618811
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Spasticity, Increased endomysial connective tissue, Decr... OMIM:620068
Epilepsy, Progressive Myoclonic 7
Myoclonus, Cerebellar atrophy, Tremor, Ataxia OMIM:616187
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Broad-based gait, Distal amyotrophy, Skeletal muscle atrophy, Basal lamina on... OMIM:614895
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Spasticity, Cerebellar atrophy, Cerebral atrophy, Babinski sign, Scoliosis, Hammertoe, Waddling gait OMIM:619090
Oculopharyngodistal Myopathy
Vocal cord paresis, Difficulty walking, Paraplegia, Loss of ambulation, Tibialis muscle weakness,... ORPHA:98897
Spastic Paraplegia 55, Autosomal Recessive
Spastic paraplegia, Optic atrophy, Lower limb muscle weakness, Difficulty walking, Tibialis anter... OMIM:615035
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Spinocerebellar Ataxia 12
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dysto... OMIM:604326
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Falls, Action myoclonus, Limb ataxia, Myoclonus, Gait disturbance, Atrophy/De... OMIM:616230
Tremor, Hereditary Essential, 6
Cerebellar atrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Gait disturbance, Amyotrophic lateral sclerosis, Fascicu... OMIM:608030
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Action tremor, Cerebellar hypoplasia, Clumsiness, Unsteady gait, Tr... ORPHA:314978
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Distal amyotrophy, Decreased motor nerve conduction velocity, Limb muscle weakness, Foot dorsifle... OMIM:118210
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Atrophy/Degeneration affe... OMIM:615957
Developmental And Epileptic Encephalopathy 76
Cerebellar atrophy, Cerebral atrophy, Inability to walk, Lower limb spasticity, Upper limb spasti... OMIM:618468
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Distal amyotrophy, Compound muscle action potential amplitude facilitation, Decreased compound mu... OMIM:616040
X-Linked Charcot-Marie-Tooth Disease Type 3
Proximal muscle weakness in lower limbs, Distal amyotrophy, Spastic paraparesis, Somatic sensory ... ORPHA:101077
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor,... OMIM:611302
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Hypertrophic nerve changes, Decreased motor nerve conduction veloci... DECIPHER:29
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski sign, Ab... OMIM:607317
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Shuffling gait, Generalized limb muscle atrophy, Scapular winging, Proximal lower limb amyotrophy... ORPHA:219
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Respiratory insufficiency, Caudate atrophy, Amyotrophic lateral sclerosis, Hippocampal atrophy OMIM:617892
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Kyphosis, Cerebral atrophy, Facial diplegia, Neonatal dea... OMIM:611890
Lopes-Maciel-Rodan Syndrome
Small hand, Spasticity, Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Tremor, ... OMIM:617435
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Spinocerebellar tract degeneration, Cerebral atrophy, Dysmetria, Tremor, Loss... OMIM:617916
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebral cortical atrophy, Cerebellar atrophy, Gait ataxia, Myoclonus, Tremor, Abnormality of ext... OMIM:615362
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebellar atrophy, Cerebral atrophy, Lower limb spasticity, Hypertonia, Ataxia, Upper limb spast... OMIM:613925
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Generalized dystonia, Cerebellar vermis atrophy, Inability to walk, Lower lim... OMIM:619389
Pontocerebellar Hypoplasia, Type 1A
Cerebral cortical atrophy, Tongue fasciculations, Hypoplasia of the pons, Hand tremor, Fasciculat... OMIM:607596
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Decreased motor nerve conduction velocity, Decreased muscle mass, Inability to ... OMIM:615490
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Spastic tetraparesis, Scoliosis, Cerebellar atrophy, Brain atrophy OMIM:618741
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraparesis, Foot dorsi... ORPHA:496756
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Dysmetria, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis OMIM:607458
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness OMIM:615515
Juvenile Primary Lateral Sclerosis
Spasticity, Skeletal muscle atrophy, Abnormal upper motor neuron morphology, Gait imbalance, Abno... ORPHA:247604
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor OMIM:608029
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Cerebellar atrophy, Falls, Cerebral atrophy, Action tremor, Rigidity, Impaired tandem... OMIM:300423
Spinocerebellar Ataxia, Autosomal Recessive 12
Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Babinski sig... OMIM:614322
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Cerebral atrophy, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Paralysi... OMIM:105500
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Pontocerebellar ... ORPHA:423275
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Ataxia OMIM:614706
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Cerebral atrophy, Hand trem... OMIM:614409
Spastic Paraplegia 31, Autosomal Dominant
Spastic paraplegia, Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Dista... OMIM:610250
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Hyporeflexia of upper limbs, Frequent falls, Inability to walk, Extrapyramida... ORPHA:93952
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Distal amyotrophy, Distal upper limb muscle weakness, Impaired pain sensation, L... OMIM:607684
Spinocerebellar Ataxia Type 2
Cerebral cortical atrophy, Spinal cord posterior columns myelin loss, Fasciculations, Abnormality... ORPHA:98756
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Cerebral cortical atrophy, Spastic paraplegia, Cerebellar atrophy, ... OMIM:617225
Cerebellar Ataxia, Cayman Type
Broad-based gait, Cerebellar atrophy, Gait ataxia, Cerebellar hypoplasia, Dystonia, Ataxia, Trunc... OMIM:601238
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Fasciculations, Difficulty walking, Spinal muscular atrophy, Tremor, Dis... OMIM:615048
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Spasticity, Skeletal muscle atrophy,... OMIM:248800
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Truncal ataxia, Cerebellar atrophy, Cerebral atrophy OMIM:611726
Spinocerebellar Ataxia 11
Cerebellar atrophy, Limb ataxia, Gait ataxia, Gait imbalance, Truncal ataxia, Progressive cerebel... OMIM:604432
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Decrease... OMIM:609260
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Cerebellar atrophy, Abnormal posturing, Generalized dystonia, Inability to walk, T... OMIM:128100
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Joint contracture of the hand, Distal sensory impairment, Unsteady gait, Poor... ORPHA:99948
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Cerebellar atrophy, Camptodactyly of finger, Gait ataxia, Slurred speech, Flexion contracture of toe OMIM:619323
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Frequent falls, Foot dorsiflexor weakn... OMIM:620011
Autosomal Recessive Spastic Paraplegia Type 76
Skeletal muscle atrophy, Lower limb muscle weakness, Limb ataxia, Gait ataxia, Ankle clonus, Babi... ORPHA:488594
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Difficulty walking, Gait ataxia,... ORPHA:512260
Autosomal Dominant Spastic Paraplegia Type 4
Spasticity, Distal amyotrophy, Leg muscle stiffness, Lower limb muscle weakness, Ankle clonus, Ba... ORPHA:100985
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Steppage gait, Ata... OMIM:618387
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Spastic Paraplegia 18B, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Inability to walk, Hypop... OMIM:611225
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Cerebral cortical atrophy, Cerebellar atrophy, Myoclonus, Dysmetria, Loss of ambulation, ... OMIM:256731
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakne... ORPHA:139536
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait ORPHA:401840
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development
Spastic paraplegia, Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Ankle cl... OMIM:607565
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Scoliosis, Hyperlordosis, Respiratory insufficiency due t... OMIM:611067
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Hand mu... OMIM:608323
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Cerebellar atrophy, Cerebral atrophy, Positive Romberg sign, Dysmetria, Loss of ambul... OMIM:618088
Mast Syndrome
Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Incoordination, Ba... OMIM:248900
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Cerebellar atrophy, Gait ataxia, Intention tremor, Dysmetria, Unsteady gait, Dysdiado... OMIM:615386
Spastic Paraplegia 2, X-Linked
Spastic paraplegia, Optic atrophy, Skeletal muscle atrophy, Spinocerebellar tract degeneration, L... OMIM:312920
Arts Syndrome
Optic atrophy, Spinal cord posterior columns myelin loss, Progressive muscle weakness, Tetraplegi... OMIM:301835
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal a... OMIM:613728
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Distal amyotrophy, Foot dorsiflexor weakness, Distal sensory impairment, Decreased number of peri... OMIM:607731
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Distal amyotrophy, Upper limb muscle weakness, Axonal degeneration/regeneration, Distal sensory i... OMIM:607677
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys... OMIM:616127
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Cerebellar atrophy, Dysmetria, Ankle clonus, Babinski sign, Lower limb spasti... OMIM:610357
Amyotrophic Lateral Sclerosis 5, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal cerebral white ma... OMIM:602099
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal amyotrophy, Denervation of the diaphragm, Camptodactyly of finger, Decreased nerve conduct... OMIM:604320
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ankle flexion c... OMIM:616668
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Hand tremor, Gait ataxia, Atroph... OMIM:617862
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Distal amyotrophy, Difficulty walking, Abnormal motor nerve conduction veloci... OMIM:158580
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tongue fascicul... OMIM:619216
Spastic Paraplegia 42, Autosomal Dominant
Spastic paraplegia, Skeletal muscle atrophy, Babinski sign, Spastic gait, Muscle weakness OMIM:612539
Spinocerebellar Ataxia Type 17
Blepharospasm, Spasticity, Involuntary movements, Cerebellar atrophy, Chorea, Rigidity, Dystonia,... ORPHA:98759
Monomelic Amyotrophy
Fasciculations, Distal upper limb amyotrophy, Tremor, Abnormality of the upper limb, Degeneration... ORPHA:65684
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal amyotrophy, Distal upper limb muscle weakness, Impaired distal vibration sensation, Distal... OMIM:619519
Pontocerebellar Hypoplasia Type 1
Cerebral cortical atrophy, Tongue fasciculations, Spasticity, Hypoplasia of the pons, Failure to ... ORPHA:2254
Dystonia 22, Juvenile-Onset
Cerebellar atrophy, Generalized dystonia, Laryngeal dystonia, Intention tremor, Dysmetria, Lower ... OMIM:620453
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, I... OMIM:617672
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Distal lower limb muscle weakness, Difficulty walking, Paralysis, Paresis of extensor muscles of ... OMIM:608634
Sodium-Dependent Multivitamin Transporter Deficiency
Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Cerebral palsy, Clubbin... OMIM:618973
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Difficulty walking, Foot dorsiflexor weakness, Distal sensory impairment, Proximal... OMIM:617087
Juvenile Huntington Disease
Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Gait ataxia, Myoclonus, ... ORPHA:248111
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction velocity, Decreas... OMIM:601098
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Resting tremor, Limb muscle weakness, Rhabdomyoly... OMIM:157640
Roussy-Lévy Syndrome
Impaired vibratory sensation, Distal amyotrophy, Skeletal muscle atrophy, Somatic sensory dysfunc... ORPHA:3115
Neuropathy, Congenital Hypomyelinating, 2
Distal amyotrophy, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Inability ... OMIM:618184
Leukodystrophy, Hypomyelinating, 18
Spasticity, Cerebellar atrophy, Failure to thrive, Dysmetria, Babinski sign, Atrophy/Degeneration... OMIM:618404
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ... ORPHA:284324
Developmental And Epileptic Encephalopathy 37
Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Cogwheel rigidity, Myoclonus, Rigidity,... OMIM:616981
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, First dorsal interossei mu... OMIM:600794
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Spasticity, Amyotrophic lateral sclerosis, Tetraparesis,... OMIM:613954
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot do... OMIM:605588
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ... ORPHA:59135
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Limb dystonia, Gait ataxia, Parkinsonism, Craniofacial dyston... ORPHA:71517
Segawa Syndrome, Autosomal Recessive
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... OMIM:620249
Microcephaly, Seizures, And Developmental Delay
Skeletal muscle atrophy, Cerebellar atrophy, Hypoplasia of the corpus callosum, Microcephaly, Pro... OMIM:613402
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Dysmetria, Rigi... OMIM:618090
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Foot dorsiflexor weakness, Spin... OMIM:617207
Distal Myotilinopathy
Distal amyotrophy, Difficulty walking, Progressive distal muscle weakness, Multiple joint contrac... ORPHA:98911
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Cerebellar atrophy, Cerebral atrophy, Small basal ganglia, Facial dipleg... OMIM:616286
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Ataxia, Global brain atrophy, Spinocerebellar tract degeneration, Cerebellar ... ORPHA:94124
Spinocerebellar Ataxia 48
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Cachexia, Parkinsonism... OMIM:618093
Charcot-Marie-Tooth Disease Type 1A
Skeletal muscle atrophy, Spontaneous pain sensation, Decreased motor nerve conduction velocity, P... ORPHA:101081
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Lower limb muscle weakness, D... OMIM:613287
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Distal amyotrophy, Impaired pain sensation, Hand tremor, Difficulty walking, Peripheral demyelina... OMIM:618279
Spastic Paraplegia 62, Autosomal Recessive
Spasticity, Skeletal muscle atrophy, Tip-toe gait, Fasciculations, Difficulty walking, Ankle clon... OMIM:615681
Peroxisome Biogenesis Disorder 8B
Spasticity, Spastic paraparesis, Loss of ambulation, Clonus, Ataxia, Unsteady gait, Tip-toe gait,... OMIM:614877
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Frequent falls, Difficulty walking, Myoclonus, Tremor, Scoliosis, Degenera... OMIM:159950
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Inferior cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Gait ataxia, Intenti... OMIM:224050
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Chorea, Limb ataxia, Positive Romberg sign, Gait ataxia, Dy... OMIM:607136
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot do... OMIM:302801
Congenital Disorder Of Glycosylation, Type Iiz
Diffuse cerebellar atrophy, Clonus, Appendicular spasticity OMIM:620201
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Fasciculations, Distal lower limb amyotrophy, Claw han... OMIM:606595
Frontotemporal Dementia With Motor Neuron Disease
Progressive cerebellar ataxia, Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper... ORPHA:275872
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Cerebellar atrophy, Failure to thrive OMIM:615596
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal amyotrophy, Fasciculations, Tremor, Spinal muscular atrophy, Loss of ambulation, Proximal ... OMIM:182980
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Stepp... OMIM:610100
Spinocerebellar Ataxia 29
Diffuse cerebellar atrophy, Cerebellar vermis hypoplasia, Broad-based gait, Truncal titubation, C... OMIM:117360
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Autosomal Recessive Spastic Paraplegia Type 62
Skeletal muscle atrophy, Tip-toe gait, Difficulty walking, Knee flexion contracture, Lower limb s... ORPHA:401785
Huntington Disease
Cerebellar atrophy, Chorea, Gait ataxia, Rigidity, Neuronal loss in central nervous system, Brady... OMIM:143100
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal amyotrophy, Decreased amplitude of sensory action potentials, Distal sensory impairment, P... OMIM:608673
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Sensory ataxia, Sensory axonal neuropathy, Cerebral atrophy, Limb muscle weakness, Ragged-red mus... OMIM:609286
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Distal amyotrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Fascic... OMIM:600882
Ceroid Lipofuscinosis, Neuronal, 7
Neurodegeneration, Cerebellar atrophy, Cerebral atrophy, Ataxia OMIM:610951
Autosomal Spastic Paraplegia Type 72
Spastic gait, Postural tremor, Impaired vibration sensation at ankles, Rigidity ORPHA:401849
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Decreased cervical spine flexion due to contractur... ORPHA:254361
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Loss of ambulation, Tongue fasciculations, Amyotrophic lateral sclerosis, Fasciculations OMIM:613435
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Gliosis, Axonal loss, Athetosis OMIM:300857
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Autosomal Recessive Spastic Paraplegia Type 74
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraplegia, Difficulty ... ORPHA:468661
Spastic Paraplegia 17, Autosomal Dominant
Spastic paraplegia, Distal amyotrophy, Decreased motor nerve conduction velocity, Lower limb musc... OMIM:270685
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Trem... ORPHA:98763
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Decreased body weight, Babinski sign, Atrophy ... ORPHA:445062
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Dyst... OMIM:128230
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Distal sensory impairment, Tremor, Fiber type grouping, Distal muscle weakness OMIM:614369
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Difficulty walking, Babinski sign, Lower limb spasticity, Limb tr... ORPHA:401820
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Somatic sensory dysfunction, Limb myoclonus, Postural tremor, Limb ataxia, Ga... OMIM:619862
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Abnormal erythrocyte morphology, Myoclonus, Hemiparesis, Paralysis, Apraxia, ... ORPHA:71277
Glut1 Deficiency Syndrome 1
Spasticity, Secondary microcephaly, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Cho... OMIM:606777
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... ORPHA:251282
Ataxia, Sensory, 1, Autosomal Dominant
Dysesthesia, Abnormal cerebellum morphology, Positive Romberg sign, Gait ataxia, Babinski sign, G... OMIM:608984
Spinocerebellar Ataxia 46
Cerebellar atrophy, Limb ataxia, Gait ataxia, Positive Romberg sign, Dysmetria OMIM:617770
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent... OMIM:614831
Spinocerebellar Ataxia 14
Cerebellar atrophy, Gait ataxia, Dysmetria, Focal dystonia, Impaired vibration sensation at ankle... OMIM:605361
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Cerebellar atrophy, Difficulty walking, Inability to walk, Tremor, Diffuse cer... ORPHA:330050
Dysequilibrium Syndrome
Gait disturbance, Skeletal muscle atrophy, Cerebral palsy, Ataxia ORPHA:1766
Huntington Disease-Like 1
Cerebral cortical atrophy, Involuntary movements, Cerebellar atrophy, Abnormal posturing, Incoord... ORPHA:157941
Desminopathy
Difficulty walking, Weakness of facial musculature, Distal lower limb muscle weakness, Loss of am... ORPHA:98909
Multifocal Motor Neuropathy
Fasciculations, Progressive distal muscle weakness, Limb muscle weakness, Progressive muscle weak... ORPHA:641
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Leukodystrophy, Hypomyelinating, 21
Cerebellar atrophy, Failure to thrive, Tetraparesis, Corpus callosum atrophy, Ataxia, Dystonia, A... OMIM:619310
Amish Nemaline Myopathy
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Tremor, Proximal... ORPHA:98902
Distal Nebulin Myopathy
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Progressive distal mu... ORPHA:399103
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait ORPHA:284271
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Impaired vibratory sensation, Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Parie... ORPHA:98
Dystonia 31
Arm dystonia, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dystonia, Parkins... OMIM:619565
Multiple Mitochondrial Dysfunctions Syndrome 6
Spasticity, Cerebellar atrophy, Failure to thrive, Inability to walk, Dysmetria, Atrophy/Degenera... OMIM:617954
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Distal lower limb muscle weakness, Paralysis, Distal muscle weakness, Paresis of extensor muscles... OMIM:158590
Leukodystrophy, Hypomyelinating, 11
Spasticity, Cerebellar atrophy, Failure to thrive, Myoclonus, Tremor, Ataxia OMIM:616494
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Cerebral atrophy, Inability to walk, Lumbar hyperlordosis, Obesity, Talipes equ... OMIM:616756
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Calf muscle hypoplasia, Distal upper limb muscle weakness, Decreased amplitude of sensory action ... ORPHA:90103
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Cerebral atrophy, Chorea, Peripheral demyelination, Pe... OMIM:604168
Autosomal Recessive Spastic Paraplegia Type 46
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Cerebral atrophy, Difficulty wal... ORPHA:320391
Spastic Paraplegia 77, Autosomal Recessive
Spastic paraplegia, Upper limb muscle weakness, Lower limb muscle weakness, Babinski sign, Lower ... OMIM:617046
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Myoclonus, Tremor, Talipes cavus equinovarus, Abnormal pyramidal sign, Dyston... ORPHA:139485
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Myoclonus, Trun... OMIM:607346
Spinocerebellar Ataxia 50
Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Postural tremor, Myoclonus, Action tremor,... OMIM:620158
Neuropathy, Hereditary, With Liability To Pressure Palsies
Froment sign, Decreased motor nerve conduction velocity, Hand muscle weakness, Hand paresthesia, ... OMIM:162500
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Cerebellar atrophy, Hand tremor, Neurodegeneration, Babinski sign, Apraxia, Ataxia, D... OMIM:615889
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Incoordination, Difficulty walking, Distal sensory impairment, Proximal muscle weakness, Intrinsi... OMIM:616688
Pontocerebellar Hypoplasia, Type 2D
Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Chorea, Appendicular spasticity,... OMIM:613811
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxi... OMIM:617633
Spastic Paraplegia 20, Autosomal Recessive
Spastic paraplegia, Spastic gait, Cerebellar atrophy, Clinodactyly, Spastic paraparesis, Difficul... OMIM:275900
Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:454887
Amyotrophic Lateral Sclerosis 3
Cerebellar atrophy OMIM:606640
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Cerebral atrophy, Amyotrophic lateral sclerosis, Tetraparesis, Abnormal lower motor neuron morpho... OMIM:105550
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Spinocerebellar Ataxia 49
Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Loss of ambulation, ... OMIM:619806
Machado-Joseph Disease Type 3
Degeneration of the striatum, Spasticity, Cerebellar atrophy, Spinocerebellar tract degeneration,... ORPHA:276244
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Fasciculations, Difficulty... OMIM:615575
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Scapular muscle atrophy, Gowers sign, Proximal muscle weakness, Peroneal musc... OMIM:611588
Autosomal Spastic Paraplegia Type 58
Spasticity, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Frequent falls, Fasciculations, C... ORPHA:397946
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Scissor gait, Park... OMIM:260300
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
Amyotrophic Lateral Sclerosis 1
Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Pseudobulbar paralysis, Degeneration o... OMIM:105400
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Myoclonus, Dysmetria, Tremor, Impaired tandem gait, Lower limb spasticity, At... OMIM:619028
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Distal sensory impairmen... OMIM:151800
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Neurodegeneration, Incoordination, Paraparesis, Gait apraxia... OMIM:615157
Charcot-Marie-Tooth Disease And Deafness
Distal amyotrophy, Decreased motor nerve conduction velocity, Ankle weakness, Thenar muscle weakn... OMIM:118300
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Cerebral cortical atrophy, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Cerebral cortical atrophy, Amyotrophic lateral sclerosis OMIM:616437
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Increased neuronal a... ORPHA:79263
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Clumsiness, Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent lipopigment OMIM:610003
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy, Ataxia OMIM:158500
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Abnormal pyramidal sign, Head titubatio... ORPHA:527497
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Cerebellar vermis atrophy, Dilated fourth ventricle, Limb dystonia, Babinski sign, Torticollis, A... OMIM:619054
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Spinal Muscular Atrophy, Type Ii
Hand tremor, Degeneration of anterior horn cells OMIM:253550
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Abnormal pyram... OMIM:617145
Spastic Paraplegia 76, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Sensory axonal neuropathy, Lower limb muscle weaknes... OMIM:616907
Duchenne Muscular Dystrophy
Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness, Calf muscle hyper... ORPHA:98896
Spastic Paraplegia 7, Autosomal Recessive
Cerebral cortical atrophy, Spastic paraplegia, Cerebellar atrophy, Slurred speech, Upper limb hyp... OMIM:607259
Spinocerebellar Ataxia, Autosomal Recessive 8
Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramida... OMIM:610743
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... OMIM:620542
Distal Myopathy With Anterior Tibial Onset
Finger flexor weakness, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Li... ORPHA:178400
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Basal Ganglia Calcification, Idiopathic, 1
Cerebellar dentate nucleus calcification, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Par... OMIM:213600
Spinal Muscular Atrophy, X-Linked 2
Respiratory insufficiency, Decreased compound muscle action potential amplitude, Respiratory insu... OMIM:301830
Periventricular Nodular Heterotopia 8
Cerebellar vermis atrophy, Spasticity OMIM:618185
Boucher-Neuhauser Syndrome
Spasticity, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait ataxia, Ataxia, Spin... OMIM:215470
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gai... OMIM:213200
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cerebellar atrophy, Bilateral single transverse palmar creases, Gait disturbance, Ataxia, Scolios... ORPHA:85317
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Distal amyotrophy, Difficulty walking, Foot dorsiflexor weakness, Distal sensory impairment, Axon... OMIM:606483
Spastic Paraplegia 45, Autosomal Recessive
Spastic paraplegia, Optic atrophy, Skeletal muscle atrophy, Hypoplasia of the corpus callosum, Dy... OMIM:613162
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Progressive spastic paraplegia, Babinski sign, Gait disturbance, Atrophy of t... OMIM:612020
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast... OMIM:616795
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Gait imbalance, Myoclonus, Ataxia, Unsteady gait, Frequent falls, Choreoathet... OMIM:301020
Spinocerebellar Ataxia 27B, Late-Onset
Postural tremor, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:620174
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Impaired vibration sensation in the lower limbs, Abnormal sensory nerve condu... ORPHA:88628
Perrault Syndrome 1
Cerebellar atrophy, Gait ataxia, Talipes equinovarus, Ataxia, Scoliosis, Intention tremor, Spasti... OMIM:233400
Spastic Ataxia 3, Autosomal Recessive
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia... OMIM:611390
Gordon Holmes Syndrome
Chorea, Cerebellar atrophy, Cerebral atrophy, Ataxia OMIM:212840
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Pseudobulbar paralysis, Abnormal upper motor neuron morphology, Decrea... OMIM:606353
Charcot-Marie-Tooth Disease Type 4G
Impaired vibratory sensation, Distal amyotrophy, Distal upper limb muscle weakness, Impaired pain... ORPHA:99953
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Cerebellar atrophy, Single transverse palmar crease, Ataxia, Unsteady gait, Scoliosis, Kyphosis OMIM:300861
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Impaired vibration sensation in the low... ORPHA:137898
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Impaired vibratory sensation, Cerebellar atrophy, Cerebral atrophy, Distal sensory impair... OMIM:607250
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Ophthalmoparesis, Gowers sign, Facial diplegia, Type ... ORPHA:169186
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Charcot-Marie-Tooth Disease, Type 4B3
Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Decreased nerve ... OMIM:615284
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Cerebellar vermis atrophy, Incoordination, Gait ataxia, Dysmetria, Babinski s... OMIM:616204
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Distal amyotrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal... OMIM:615376
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Cerebral atrophy, Tetrapare... OMIM:615491
Dystonia 16
Bradykinesia, Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis,... ORPHA:210571
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Distal amyotrophy, Foot dorsiflexor weakness, Peripheral axonal neuropathy, Decreased distal sens... OMIM:618400
Spastic Ataxia 9, Autosomal Recessive
Spasticity, Cerebellar vermis atrophy, Dysmetria, Hoffmann sign, Babinski sign, Abnormal pyramida... OMIM:618438
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Intention tremor, Dysmetria, Oculomot... ORPHA:208513
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Spastic paraplegia, Cerebellar atrophy, Neurodegeneration, Difficulty walking, Dysmetria, Ankle c... OMIM:612319
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Spasticity, Falls, Lower limb muscle weakness, Difficulty walking, Distal sensory impairment, Pro... OMIM:617882
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, ... ORPHA:98764
Autosomal Recessive Spastic Paraplegia Type 63
Spasticity, Skeletal muscle atrophy, Abnormal periventricular white matter morphology, Scissor ga... ORPHA:401805
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Spasticity, Cerebellar atrophy, Limb ataxia, Limb dystonia, Abnormal pyramidal sign, Head titubat... OMIM:617560
Sandhoff Disease, Juvenile Form
Cerebellar atrophy, Acroparesthesia, Failure to thrive, Cerebral atrophy, Incoordination, Fascicu... ORPHA:309162
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Cerebellar atrophy, Brachydactyly, Ataxia OMIM:618879
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Broad-based gait, Lower limb muscle weakness, Difficulty walking, Positive Romberg sign, Loss of ... OMIM:616479
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Cerebral atrophy, Dysmetria, Tremor, Ataxia, Unsteady gait, Titubation OMIM:619405
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Gait imbalance, Gait ataxia, Spastic a... OMIM:618369
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Spinocerebellar Ataxia 2
Spasticity, Action tremor, Parkinsonism, Ataxia, Unsteady gait, Bradykinesia, Progressive cerebel... OMIM:183090
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Autosomal Dominant Spastic Paraplegia Type 38
Frontotemporal cerebral atrophy, Progressive spastic paraplegia, Thenar muscle weakness, Impaired... ORPHA:171617
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Hypoplasia of the pons, Elbow flexion contracture, Myoclonus, Cerebellar hypo... OMIM:619303
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondylolisthesis at L5-S1, Os... OMIM:600561
Glycosylphosphatidylinositol Biosynthesis Defect 15
Spasticity, Cerebellar atrophy, Inability to walk, Gait ataxia, Dysmetria, Tremor, Cerebellar hyp... OMIM:617810
Bethlem Muscular Dystrophy
Difficulty walking, Neck muscle weakness, Gowers sign, Rimmed vacuoles, Ankle flexion contracture... ORPHA:610
Spinocerebellar Ataxia 5
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Incoordination, Limb ataxia, ... OMIM:600224
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi... OMIM:609270
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Limb ataxia, Progressive gait ataxia, Babinski sign, Truncal ataxia, Progress... ORPHA:101112
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in lower limbs, Head tremor, Positive Romberg sign, Hand muscle atrophy,... ORPHA:101085
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness OMIM:612069
Spinocerebellar Ataxia 28
Spasticity, Cerebellar atrophy, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Babinski s... OMIM:610246
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Impaired pain sensation, Cerebellar vermis atrophy, Paresthesia, Gait ataxia, Limb at... OMIM:616719
Nemaline Myopathy 6
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Gait disturbance, Facia... OMIM:609273
Spastic Paraplegia 75, Autosomal Recessive
Spasticity, Spastic paraparesis, Cerebellar atrophy, Dysmetria, Loss of ambulation, Babinski sign... OMIM:616680
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Somatic sensory dysfun... ORPHA:99939
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Hypertonia, Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy OMIM:618730
Alexander Disease Type I
Spasticity, Cerebellar atrophy, Failure to thrive, Cachexia, Abnormal pyramidal sign, Ataxia, Sco... ORPHA:363717
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Neurodegeneration, Congenital diaphragmatic hernia, Microcephaly, Progressive... OMIM:615919
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Ophthalmoparesis, Skeletal muscle atrophy, Difficulty walking, Myopathy, Weakness of facial muscu... ORPHA:254875
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Difficulty walking, Cerebral cortical atrophy, Cerebellar atrophy, Ataxia OMIM:619425
Spastic Paraplegia 11, Autosomal Recessive
Spastic paraplegia, Cerebral cortical atrophy, Skeletal muscle atrophy, Tip-toe gait, Lower limb ... OMIM:604360
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy OMIM:617643
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Obesity, Limb dystonia, Tremor, Cerebellar hypoplasia, Bilateral coxa valga OMIM:620270
Developmental And Epileptic Encephalopathy 44
Spasticity, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Dystonia, Athetosis OMIM:617132
Masa Syndrome
Agenesis of corpus callosum, Microcephaly, Hyperlordosis, Hydrocephalus, Macrocephaly, Kyphosis OMIM:303350
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cerebellar atrophy, Myoclonus, Cerebellar hypoplasia, Atrophy/Degeneration affecting the brainste... OMIM:619971
Lethal Congenital Contracture Syndrome 8
Distal amyotrophy, Facial diplegia, Distal sensory impairment, Peripheral hypomyelination, Distal... OMIM:616287
Mitochondrial Complex I Deficiency, Nuclear Type 19
Cerebellar atrophy, Inability to walk, Myoclonus, Rigidity, Loss of ambulation, Gait disturbance,... OMIM:618241
Acute Peripheral Arterial Occlusion
Paresthesia, Limb muscle weakness, Leukocytosis, Paralysis, Impaired distal tactile sensation ORPHA:90064
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Spasticity, Oculogyric crisis, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Chorea, M... OMIM:614254
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... ORPHA:306692
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in lower limbs, Joint contracture of the hand, Difficulty walking, Neck ... ORPHA:466768
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Leukodystrophy, Hypomyelinating, 14
Dystonia, Spasticity, Cerebellar atrophy, Cerebral atrophy OMIM:617899
Autosomal Dominant Spastic Paraplegia Type 17
Distal amyotrophy, Abnormality of the foot musculature, Ankle weakness, Hand muscle weakness, Pos... ORPHA:100998
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Impaired vibratory sensation, Se... OMIM:616924
Facial Onset Sensory And Motor Neuronopathy
Paresthesia, Skeletal muscle atrophy, Muscle weakness, Fasciculations ORPHA:85162
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Spasticity, Cerebellar atrophy, Intention tremor, Dysmetria, Progressive gait ataxia, Truncal ata... ORPHA:352403
Muscular Dystrophy, Congenital, With Or Without Seizures
Proximal muscle weakness, Loss of ambulation, Progressive muscle weakness, Hypoglycosylation of a... OMIM:620166
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt... ORPHA:1170
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve ... OMIM:180800
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Tremor, Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness,... ORPHA:2590
Behr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetria, Tremor, Babinski sign, Gait disturbance... OMIM:210000
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Kyphosis, Failure to thrive, Neonatal death, Dystonia, Spastic tetraplegia OMIM:618237
Spastic Paraplegia 85, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Upper limb spasticity, Optic atrophy, Cerebella... OMIM:619686
Congenital Disorder Of Glycosylation, Type Iibb
Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Failure to thrive, Tetraparesis, An... OMIM:620546
Autosomal Recessive Spastic Paraplegia Type 39
Spastic paraplegia, Cerebellar atrophy, Gait ataxia, Babinski sign, Lower limb spasticity, Atroph... ORPHA:139480
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Infantile Refsum Disease
Optic atrophy, Spasticity, Progressive muscle weakness, Ataxia, Facial palsy ORPHA:772
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Spasticity, Distal amyotrophy, Cerebral atrophy, Head tremor, Impaired vibration sensation in the... ORPHA:352641
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Ga... ORPHA:101078
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Vocal cord paresis, Amyotrophic lateral sclerosis, Shoulder girdle muscle weakne... ORPHA:600
Episodic Ataxia Type 1
Hand clenching, Cerebellar atrophy, Tip-toe gait, Kyphoscoliosis, Clumsiness, Hypertonia, Poor co... ORPHA:37612
Spastic Paraplegia 70, Autosomal Recessive
Spasticity, Skeletal muscle atrophy, Somatic sensory dysfunction, Fasciculations, Ankle clonus, M... OMIM:620323
Autosomal Dominant Spastic Paraplegia Type 42
Progressive spastic paraplegia, Lower limb muscle weakness, Impaired vibration sensation in the l... ORPHA:171863
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Skeletal muscle atrophy, Somatic sensory dysfunction, Peripheral demyelination, Limb muscle weakn... OMIM:620378
Spinocerebellar Ataxia 1
Spasticity, Proximal muscle weakness, Optic disc pallor, Progressive cerebellar ataxia, Impaired ... OMIM:164400
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Cerebellar vermis atrophy, Inability to walk, Chorea, Gait ataxia, Dysmetria, Ataxia OMIM:618501
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Autosomal Dominant Spastic Paraplegia Type 19
Lower limb muscle weakness, Progressive spastic paraplegia, Difficulty walking, Impaired vibratio... ORPHA:100999
Spastic Paraplegia Type 7
Cerebral cortical atrophy, Cerebellar atrophy, Somatic sensory dysfunction, Impaired vibration se... ORPHA:99013
Gemignani Syndrome
Skeletal muscle atrophy, Impaired pain sensation, Hemiplegia/hemiparesis, Ataxia ORPHA:2074
Infantile Cerebellar-Retinal Degeneration
Cerebral cortical atrophy, Cerebellar atrophy, Failure to thrive, Decreased body weight, Ataxia, ... OMIM:614559
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Respiratory insufficiency due to muscle weakness, Scoliosis, Respiratory fa... OMIM:300717
Spastic Paraplegia 64, Autosomal Recessive
Spastic paraplegia, Spasticity, Skeletal muscle atrophy, Microcephaly, Gait disturbance, Abnormal... OMIM:615683
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, Progressive distal muscle weakness, EMG: myopathic abnormalities, Progress... OMIM:609452
Hypermanganesemia With Dystonia 2
Spasticity, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Generalized dystonia, Inability t... OMIM:617013
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Proximal muscle weakness in lower limbs, Spastic paraplegia, Impaired vibratory sensation, Skelet... OMIM:620538
Amyotrophic Lateral Sclerosis 18
Spasticity, Amyotrophic lateral sclerosis, Fasciculations OMIM:614808
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Distal upper limb amyotrophy, Tremor, Gait disturbance, Ataxia, Scoliosi... ORPHA:101075
Amyotrophy, Hereditary Neuralgic
Skeletal muscle atrophy, Brachial plexus neuropathy, Axonal degeneration, Peripheral axonal degen... OMIM:162100
Parkinsonism-Dystonia 3, Childhood-Onset
Global brain atrophy, Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, ... OMIM:619738
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Respiratory insufficiency, Microcephaly, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity OMIM:617404
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Spasticity, Somatic sensory dysfunction, Cerebellar vermis atrophy, Paresthesia, Gait ataxia, Tal... ORPHA:466794
Spinocerebellar Ataxia 4
Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Babinski sign, Progressive cerebel... OMIM:600223
Amyotrophic Lateral Sclerosis
Progressive distal muscular atrophy, Spasticity, Skeletal muscle atrophy, Upper limb muscle weakn... ORPHA:803
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Somatic sensory dysfunction, Head tremor, Gait ataxia, Dysmetria, Titubation ORPHA:98771
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia OMIM:614229
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia OMIM:609306
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Spastic Paraplegia 5A, Autosomal Recessive
Spastic paraplegia, Upper limb spasticity, Optic atrophy, Upper limb muscle weakness, Lower limb ... OMIM:270800
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Dysmetria, Short neck ORPHA:320385
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Gowers sign, Difficulty walking, Neck muscle weakness, ... OMIM:609285
Congenital Muscular Dystrophy With Intellectual Disability
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Respiratory insufficiency, Abnormal peri... ORPHA:370968
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston... OMIM:617284
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy, Progressive cerebellar ataxia OMIM:618412
Ataxia-Telangiectasia-Like Disorder
Cerebellar vermis hypoplasia, Cerebellar atrophy, Chorea, Dilated fourth ventricle, Gait ataxia, ... ORPHA:251347
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology, Babinski sign, Spastic gait, Spastic tetraparesis, Spasti... OMIM:611637
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Pancytopenia, Myoclonus, Ragged-red muscle fibers, Tremor, Loss of ambulation... OMIM:607426
Spinocerebellar Ataxia 44
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis OMIM:617691
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Chorea, Gait ataxia, Talipes... OMIM:618917
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Global brain atrophy, Respiratory insufficiency, Death in infancy, Hyperintensity of cerebral whi... OMIM:611722
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Amyotrophic lateral sclerosis, Fasciculations, Abnormal moto... ORPHA:52430
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Dysmetria, Distal sensory im... OMIM:159550
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturbance, Parkinso... ORPHA:314632
Neurodevelopmental Disorder With Involuntary Movements
Spasticity, Involuntary movements, Cerebellar atrophy, Cerebral atrophy, Chorea, Hyperkinetic mov... OMIM:617493
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Skeletal muscle atrophy, Decreased nerve conduction velocity, Peripheral demyelination, Distal se... ORPHA:99944
Hereditary Methemoglobinemia
Temporal cortical atrophy, Global brain atrophy, Cerebellar atrophy, Spasticity, Spastic tetraple... ORPHA:621
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait, Dystonia OMIM:128235
Syringomyelia, Noncommunicating Isolated
Enlarged sagittal diameter of the cervical canal, Paresthesia, Gait ataxia, Chiari type I malform... OMIM:186700
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Gait ataxia, Myoclonus, Dysmetria, Distal sensory impairment, Tremor, Babinsk... OMIM:616505
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Cerebral atrophy, Difficulty walking, Chorea, Myopathy, Hyperkine... ORPHA:369847
Pontocerebellar Hypoplasia, Type 1C
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Respiratory insufficiency, Death in chil... OMIM:616081
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy, Steppage gait, Distal muscle weakness OMIM:604454
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ... ORPHA:216873
Parkinson Disease 2, Autosomal Recessive Juvenile