Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
tripeptidyl peptidase I
Synonyms:
Cln2

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 Tpp1 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 predicted to be associated to Tpp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Sensory axonal neuropathy, Motor axonal neuropathy, Impaired tactil... ORPHA:98765
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Inability t... OMIM:617672
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ... OMIM:616053
Spinocerebellar Ataxia 37
Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Spinocerebellar Ataxia Type 43
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Cogwheel rigidity, Distal sensory impairment... ORPHA:497764
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Spasticity, Cerebellar atrophy, Seizure, Chiari type I malformation, Babinski sign, Delay... OMIM:619742
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Broad-based gait, Basal lamina onion bulb formation, Difficulty walking, Peri... OMIM:614895
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Seizure, Leukodystrophy, Hemiplegia, Tremor, Abnormality of extrapyramidal motor func... OMIM:614561
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Nonprogressive cerebellar a... ORPHA:94122
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait OMIM:616410
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Abasia, Ataxia OMIM:209100
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,... OMIM:617018
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor ORPHA:217012
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Peroxisome Biogenesis Disorder 8B
Spasticity, Spastic paraparesis, Leukodystrophy, Peripheral demyelination, Loss of ambulation, Cl... OMIM:614877
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Impaired pain sensation, Hand tremor, Difficulty walking, Peripheral demyelination, Distal sensor... OMIM:618279
Null Syndrome
Optic atrophy, CNS hypomyelination, Progressive spastic paraplegia, Difficulty walking, Inability... ORPHA:280234
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Tremor, Seizure, Ataxia OMIM:213000
Autosomal Spastic Paraplegia Type 58
Spasticity, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Frequent falls, Fasciculations, C... ORPHA:397946
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy OMIM:605388
Spinocerebellar Ataxia Type 5
Incoordination, Gait disturbance, Cerebellar atrophy, Slurred speech ORPHA:98766
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Hypertrophic nerve changes, Gait ataxia, Action tremor, Distal sensor... OMIM:180800
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Peripheral axonal neuropa... OMIM:615957
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Somatic sensory dysfunction, Peripheral demyelination, Axonal degeneration/regeneration, Peripher... OMIM:620378
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Steppage gait, Onion bulb formation, Distal sensory impairment OMIM:616039
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Paresthesia, Positive Romberg sign, Gait ataxia, Distal sensory impai... OMIM:601098
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Somatic sensory dysfunction, Progressive spastic paraplegia, Distal s... ORPHA:101010
Chronic Inflammatory Demyelinating Polyneuropathy
Falls, Spontaneous pain sensation, Somatic sensory dysfunction, Difficulty walking, Peripheral de... ORPHA:2932
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Impaired vibratory sensation, Cerebellar atrophy, Seizure, Cerebral atrophy, Distal senso... OMIM:607250
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Difficulty walking, Axonal degeneration/regeneration, Distal sensory impairment, Steppage gait, S... OMIM:606483
Spastic Paraplegia 72A, Autosomal Dominant
Spastic paraplegia, Spasticity, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ho... OMIM:615625
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Myoclo... ORPHA:363710
Diaminopentanuria
Neurodegeneration, Spasticity, Seizure, Ataxia OMIM:222350
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Cerebellar atrophy, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia OMIM:616187
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Impaired vibratory sensation, Impaired pain sensation, Peripheral demyelination, Distal sensory i... OMIM:615185
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Distal sensory impairment, Axonal degeneration, Decreased number of peripheral myelinated nerve f... OMIM:606482
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Cavitating leukodystrophy, Seizure, Ataxia OMIM:619061
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... OMIM:610245
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Impaired vibratory sensation, Vocal cord paresis, Impaired pain sensation, Peripheral demyelinati... ORPHA:101097
Spinocerebellar Ataxia Type 25
Diffuse cerebellar atrophy, Impaired pain sensation, Gait ataxia, Distal sensory impairment, Abno... ORPHA:101111
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, Type 4A
Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Distal sensor... OMIM:214400
Distal Myopathy, Welander Type
Rimmed vacuoles, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Myopathy, Clumsiness, I... ORPHA:603
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Sensory axonal neuropathy, Myoclonus, Dysmetria, Tremor, Babinski sign, Atonic seizure, G... OMIM:612437
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Clusters of axonal regeneration, Distal sensory impairment, Decreased number of periphera... OMIM:607734
Atypical Rett Syndrome
Spasticity, Involuntary movements, Neonatal seizure, Impaired pain sensation, Abnormal pattern of... ORPHA:3095
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:617769
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk... OMIM:615768
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Myoclonus, Gait ataxia, Tremor, Abnormali... OMIM:615362
Dystonia 22, Adult-Onset
Upper limb postural tremor, Retrocollis, Babinski sign, Gait disturbance, Torticollis, Focal dyst... OMIM:620456
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia ORPHA:1397
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Seizure, Cerebral atrophy, Increased neuronal autofluorescent lipopigment, My... OMIM:600143
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Seizure, Cerebral atrophy, Rigidity, Loss of ambulation, Ataxia OMIM:609055
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Action tremor, Cerebellar hypoplasia, Clumsiness, Truncal ataxia, U... ORPHA:314978
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Steppage gait, Axonal degeneration/regeneration, Distal sensory impairment, Decreased number of p... OMIM:607677
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Cerebellar atrophy, Ataxia OMIM:619333
Spinocerebellar Ataxia 35
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o... OMIM:613908
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Cerebellar atrophy, Seizure, Cerebral atrophy, Action tremor, Rigidity, Babins... OMIM:300423
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Spasticity, Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, ... ORPHA:284332
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Seizure, Peripheral demyelination, Gait ataxia, Loss of ambulation, Babinski sign, CNS demyelinat... OMIM:249900
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Steppage gait, Distal sensory impairment, Decreased number of peripheral mye... OMIM:607731
Hypertrophic Neuropathy Of Dejerine-Sottas
Tongue fasciculations, Broad-based gait, Hypertrophic nerve changes, Peripheral demyelination, My... OMIM:145900
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Pontocerebella... ORPHA:423275
Spastic Paraplegia 55, Autosomal Recessive
Spastic paraplegia, Optic atrophy, Difficulty walking, Distal sensory impairment, Babinski sign, ... OMIM:615035
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Ataxia, Generalized myocl... OMIM:610951
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at... OMIM:616948
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr... ORPHA:276193
Stxbp1-Related Encephalopathy
Ataxia, Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Spastic tetr... ORPHA:599373
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morphology, Limb dysmetria... ORPHA:98762
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy, Myoclonic seizure, Cerebellar atrophy, Cerebral atrophy, Bilateral tonic-clonic se... OMIM:611726
Dystonia 23
Cerebellar atrophy, Head tremor, Myoclonus, Limb dystonia, Axial dystonia, Gait disturbance, Tort... OMIM:614860
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Cerebellar atrophy, Seizure, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski... OMIM:607317
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait ORPHA:401840
Charcot-Marie-Tooth Disease, Type 4K
Difficulty walking, Peripheral demyelination, Ataxia, Axonal loss, Dystonia OMIM:616684
Dystonia 31
Arm dystonia, Abnormal posturing, Generalized dystonia, Leg dystonia, Parkinsonism, Craniofacial ... OMIM:619565
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy OMIM:212160
Spinocerebellar Ataxia 18
Sensory axonal neuropathy, Cerebellar atrophy, Tremor, Dysmetria, Progressive gait ataxia, Babins... OMIM:607458
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Dysdiadochokinesis, Cerebellar atrophy, Myoclonus, Dysmetria, Sp... OMIM:614487
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Difficulty walking, Peripheral demyelination, Positive Romberg sign,... ORPHA:206594
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Axonal degeneration/regeneration, Distal sensory impairment, Decreased number of peripheral myeli... OMIM:118210
Striatal Degeneration, Autosomal Dominant 1
Degeneration of the striatum, Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesi... OMIM:609161
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m... OMIM:617030
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Unsteady gait, Acute demyelinating polyneuropathy, Dysesthesia ORPHA:98916
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:617133
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Cerebellar hypoplasia, Babinski sign, Ataxia, Truncal ataxia OMIM:617584
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Tip-toe gait, Hand tremor, Difficulty walking, Incoordination, Dysmetria, Dis... OMIM:302800
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Babinski sign, Peripheral axonal neuropathy, Ataxia OMIM:611105
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Seizure, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Seizure, Increased neuronal autofluorescent lipopigment, Abnormal cerebellum m... OMIM:162350
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Spastic paraplegia, Optic atrophy, Cerebellar atrophy, Seizure, Difficulty walking, Neurodegenera... OMIM:612319
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... OMIM:609115
Spinocerebellar Ataxia 31
Cerebellar atrophy, Limb ataxia, Gait ataxia, Ataxia OMIM:117210
Episodic Ataxia, Type 8
Ataxia, Slurred speech, Intention tremor, Episodic ataxia OMIM:616055
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Laryngeal dystonia, Gait ataxia, Ab... ORPHA:101110
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Progressive spastic paraplegia, Difficulty walking, Babinski sign, Low... ORPHA:401820
Charcot-Marie-Tooth Disease, Type 4H
Distal sensory impairment, Peripheral hypomyelination, Decreased number of peripheral myelinated ... OMIM:609311
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata... ORPHA:95434
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Spasticity, Axonal degeneration/regeneration, Distal sensory impairment, Tremor, D... OMIM:609260
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Tip-toe gait, Tetraparesis, Decreased number of peripheral myelinated nerve fibers, Clumsiness, H... ORPHA:2386
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Hypertrophic nerve changes, Peripheral demyelination, Distal sensory impairment, Decreased number... OMIM:118200
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Dysmetria, Rigi... OMIM:618090
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination, Paraparesis, Impaired distal proprioception ORPHA:231445
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Chronic axonal neuropathy, Cerebral degeneration, Ataxia OMIM:260970
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Cerebellar atrophy, Seizure, Ataxia, Generalized myoclonic seizure OMIM:614706
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Dyskinesia, Limb And Orofacial, Infantile-Onset
Seizure, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Distal sensory impairment, Gait disturbance, Segmental peripheral demyelination/re... OMIM:311070
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Steppage gait, Impaired distal tactile sensation, Onion bulb format... OMIM:610100
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... OMIM:616291
Charcot-Marie-Tooth Disease, Type 4J
Distal sensory impairment, Peripheral hypomyelination, Gait disturbance, Axonal loss, Frequent fa... OMIM:611228
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Nescav Syndrome
Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Inability to walk, Cere... OMIM:614255
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista... ORPHA:101108
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Seizure, Myoclonus, Rigidity, Ataxia, Intention... OMIM:618876
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Demyelinating sensory neuropathy, Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impa... OMIM:618387
Bethlem Myopathy 1A
Ankle flexion contracture, Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contra... OMIM:158810
Charcot-Marie-Tooth Disease Type 4G
Impaired vibratory sensation, Impaired pain sensation, Difficulty walking, Peripheral demyelinati... ORPHA:99953
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Seizure, Cerebral atrophy, Abnormal upper motor neuron morphology, Peripheral demyeli... OMIM:221770
Charcot-Marie-Tooth Disease, Type 4C
Tongue fasciculations, Basal lamina onion bulb formation, Difficulty walking, Abnormal cranial ne... OMIM:601596
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Distal sensory impairment, Decreased number of peripheral myelinated ... OMIM:118220
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Pyruvate Dehydrogenase Deficiency
Spasticity, Seizure, Cerebral palsy, Tremor, Tachypnea, Abnormal pyramidal sign, Gait disturbance... ORPHA:765
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Distal sensory impairment, Decreased number of peripheral myelinated... OMIM:604484
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Bilateral tonic-clonic seizure, Ataxia, Torticollis, Dyst... OMIM:618425
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Seizure, Tetraparesis, Cerebral atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, ... OMIM:615924
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady... OMIM:302500
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Camos Syndrome
Optic atrophy, Spasticity, Seizure, Aplasia/Hypoplasia of the cerebellum, Ataxia, Progressive ext... ORPHA:83472
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxi... OMIM:614322
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Seizure, Generalized dystonia, Inability to walk, Cerebellar vermis atrophy, ... OMIM:619389
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Spasticity, Myoclonic seizure, Cerebellar atrophy, Generalized non-motor (absence)... OMIM:617810
Adult Krabbe Disease
Spasticity, Broad-based gait, Acroparesthesia, Somatic sensory dysfunction, Abnormal medulla oblo... ORPHA:206448
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Arthrogryposis multiplex congenita, Congenital contracture, Myopathy, Skeletal muscle atrophy OMIM:208100
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Tremor, Ataxia OMIM:619099
Spinocerebellar Ataxia 12
Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiado... OMIM:604326
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Craniofacial dystonia, Torticollis, Dystonia, Progressive cerebellar ataxia OMIM:611694
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Oculogyric crisis, Focal impaired awareness seizure, Cerebellar atrophy, Seizure, ... ORPHA:330050
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:617831
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Trem... ORPHA:98763
Spinocerebellar Ataxia 11
Cerebellar atrophy, Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebel... OMIM:604432
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Steppage gait, Axonal degeneration/regeneration, Distal sensory impairment OMIM:607736
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Neurodegeneration With Brain Iron Accumulation 6
Spastic paraparesis, Tip-toe gait, Neurodegeneration, Motor axonal neuropathy, Rigidity, Dystonia... OMIM:615643
Myoclonic-Atonic Epilepsy
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Tremor, Delayed CNS myelinati... OMIM:616421
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy, Ataxia ORPHA:2579
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Spasticity, Upper limb muscle weakness, Fasciculations, ... ORPHA:309169
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Seizure, Ina... ORPHA:391411
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Bab... OMIM:611302
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait disturbance, Bilateral ... OMIM:616230
Ceroid Lipofuscinosis, Neuronal, 5
Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Increased neuronal autofluorescent lipopi... OMIM:256731
Epilepsy, Progressive Myoclonic, 6
Ataxia, Generalized non-motor (absence) seizure, Difficulty walking, Myoclonus, Tremor, Loss of a... OMIM:614018
Tremor, Hereditary Essential, 6
Cerebellar atrophy, Leukodystrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Tongue fasciculations, Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower... OMIM:619216
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination, Gait disturbance, Distal sensory impairment ORPHA:99944
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Cerebral atrophy, Chorea, Peripheral demyelination, Peripheral hypomyelination, Axonal degenerati... OMIM:604168
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Cerebral cortical atrophy, Falls, Resting tremo... OMIM:617225
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Seizure, Gait ataxia, Ataxia, Unsteady gait OMIM:615705
Nemaline Myopathy 6
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Facial palsy OMIM:609273
Dentatorubral-Pallidoluysian Atrophy
Chorea, Myoclonus, Parkinsonism, Atrophy of the dentate nucleus, Ataxia, Dystonia, Choreoathetosis OMIM:125370
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor OMIM:608029
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness,... ORPHA:79262
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Cerebral atrophy, Increased neuronal autofluorescent lipopigment, Myoclonus, Abnormality of extra... OMIM:204300
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration, Seizure OMIM:613068
Leukodystrophy, Hypomyelinating, 11
Spasticity, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Myoclonus, Tremor, Ataxia OMIM:616494
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Myoclonus, Ragged-red muscle fibers, Myopathy, Ataxia OMIM:545000
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Ataxia ORPHA:22
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Somatic sensory dysfunction, Progressive extrapyramidal mu... ORPHA:454887
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Tongue fasciculations, Proximal muscle weakness in lower limbs, Proximal muscle ... ORPHA:276435
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hypoesthesia, Segmental peripheral demyelination/remyelination, Hand paresthesia, Vocal cord para... OMIM:162500
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Limb muscle weakness, Ragged-red muscle fibers, Babinski si... OMIM:500002
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Peripheral demyelination, Distal sensory impairment, Steppage gait, Decreased number of large per... OMIM:608340
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Epilepsia partialis continua, Involuntary movements, Optic atrophy, Sensory axonal neuropathy, Ce... OMIM:271245
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Myopathy, Distal, 4
Skeletal muscle atrophy, Thenar muscle weakness, Distal lower limb amyotrophy, Distal upper limb ... OMIM:614065
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gai... OMIM:213200
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Seizure, Impaired vibration sensation in the lower limbs, Tremor, Degeneratio... OMIM:600363
Neuropathy, Hereditary Motor And Sensory, Russe Type
Difficulty walking, Distal sensory impairment, Peripheral hypomyelination, Paralysis, Decreased n... OMIM:605285
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Leukodystrophy, Cerebral atrophy, Tremor, Dysmetria, Loss of ambulation, Lowe... OMIM:617916
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Generalized Epilepsy With Febrile Seizures-Plus
Ataxia, Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (a... ORPHA:36387
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor ORPHA:308
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis, Impaired pain sensation, Axonal degeneration/regeneration, Decreased number o... OMIM:607706
Spastic Ataxia, Charlevoix-Saguenay Type
Loss of Purkinje cells in the cerebellar vermis, Spasticity, Falls, Progressive truncal ataxia, C... OMIM:270550
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... ORPHA:251282
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Dysmetria, Unsteady gait, Intent... OMIM:615386
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Cerebral cortical atrophy, Falls, Resting tremor, R... ORPHA:306692
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Axonal degeneration/regeneration, Distal sensory impairment, Decreased number of peripheral myeli... OMIM:605588
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Difficulty walking, Axonal regeneration, Onion bulb formation, Distal sensory impairment OMIM:608323
Neuromyelitis Optica Spectrum Disorder
Paraplegia, Peripheral demyelination, Somatic sensory dysfunction, Neuronal loss in central nervo... ORPHA:71211
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia ORPHA:2589
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ... OMIM:208920
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ... ORPHA:284324
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys... OMIM:616127
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Tremor, Rigidity, Chiari type I malformation, Dystonia, Bilateral toni... OMIM:617836
Charcot-Marie-Tooth Disease, Type 4B2
Difficulty walking, Distal sensory impairment, Decreased number of peripheral myelinated nerve fi... OMIM:604563
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Gait apraxia... OMIM:615157
Citrullinemia Type I
Spasticity, Seizure, Ankle clonus, Tachypnea, Torticollis, Ataxia, Slurred speech ORPHA:247525
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Cerebellar atrophy, Hand tremor, Neurodegeneration, Babinski sign, Apraxia, Ataxia, D... OMIM:615889
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Gait ataxia, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-cl... OMIM:618587
Autosomal Spastic Paraplegia Type 72
Spastic gait, Postural tremor, Impaired vibration sensation at ankles, Rigidity ORPHA:401849
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Seizure, Postural tremor, Akinesia, Freezing of gait, Rigidity, Dystonia, Clumsin... OMIM:619911
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Hypomimic face, Brady... OMIM:300911
Spastic Paraplegia 11, Autosomal Recessive
Spastic paraplegia, Cerebral cortical atrophy, Tip-toe gait, Impaired vibration sensation in the ... OMIM:604360
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Cerebellar atrophy, Dysmetria, Ankle clonus, Babinski sign, Peripheral axonal... OMIM:610357
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyr... OMIM:617145
Dystonia 22, Juvenile-Onset
Cerebellar atrophy, Generalized dystonia, Laryngeal dystonia, Intention tremor, Dysmetria, Lower ... OMIM:620453
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Cerebellar atrophy, Aplasia of the inferior half of the cerebellar vermis, Gait... OMIM:610185
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Distal sensory impairment, Tremor, Fasciculations OMIM:615048
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Cerebral atrophy, Seizure, Myoclonus, Increased extraneuronal autofluorescent lipopigment... OMIM:204500
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Seizure, Inability to walk, Dilated fo... OMIM:614831
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebellar atrophy, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Parkinso... ORPHA:521406
Autosomal Recessive Spastic Paraplegia Type 35
Spastic paraplegia, Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Genera... ORPHA:171629
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Bilateral tonic-clonic se... OMIM:619028
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Difficulty walking, Inability t... ORPHA:2590
Basal Ganglia Calcification, Idiopathic, 1
Cerebellar dentate nucleus calcification, Seizure, Chorea, Limb dysmetria, Tremor, Rigidity, Dyst... OMIM:213600
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Spasticity, Cerebral cortical atrophy, Seizure, Tremor, Rigidity, Cerebellar hypop... ORPHA:33445
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Myoclonic Epilepsy, Familial Infantile
Generalized myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 ye... OMIM:605021
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Spastic paraplegia, Spasticity, Seizure, Respiratory distress, Inability to walk, Focal tonic sei... OMIM:617977
Dravet Syndrome
Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seiz... OMIM:607208
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Seizure, Gait ataxia, Limb dystonia, Parkinsonism, Craniofaci... ORPHA:71517
X-Linked Progressive Cerebellar Ataxia
Cerebellar vermis atrophy, Limb ataxia, Intention tremor, Dysmetria, Progressive gait ataxia, Bab... ORPHA:1175
Spinocerebellar Ataxia 48
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Bilatera... OMIM:618093
Folinic Acid-Responsive Seizures
Broad-based gait, Generalized myoclonic seizure, Atonic seizure, Seizure, Respiratory distress, D... ORPHA:79097
Krabbe Disease
Optic atrophy, Seizure, Neurodegeneration, Peripheral demyelination, Diffuse cerebral atrophy, CN... OMIM:245200
Neuropathy, Congenital Hypomyelinating, 2
Inability to walk, Facial diplegia, Decreased number of peripheral myelinated nerve fibers, Onion... OMIM:618184
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration, Distal sensor... OMIM:607791
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Positive Romberg sign, Dysmetria, Loss... OMIM:618088
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Cerebellar atrophy, Febrile seizure (within the age range of 3 months to 6 year... ORPHA:512260
Intellectual Developmental Disorder, Autosomal Recessive 77
Head tremor, Unsteady gait OMIM:619988
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Optic atrophy, Cerebellar atrophy, Cerebral atr... OMIM:615491
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Generalized... ORPHA:79263
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Abnormal pyramidal sign, Leukodystrophy DECIPHER:59
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Spinocerebellar Ataxia 29
Truncal titubation, Diffuse cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, C... OMIM:117360
Ataxia, Sensory, 1, Autosomal Dominant
Sensory ataxia, Abnormal cerebellum morphology, Positive Romberg sign, Gait ataxia, Babinski sign... OMIM:608984
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Steppage gait, Somatic sensory dysf... OMIM:615376
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Spasticity, Cerebral cortical atrophy, Seizure, Tremor, Delayed CNS myelination, A... OMIM:300983
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal a... OMIM:613728
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Spastic paraplegia, Demyelinating sensory neuropathy, Onion bulb ... OMIM:182815
Dystonia 16
Bradykinesia, Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis,... ORPHA:210571
Spinocerebellar Ataxia Type 27
Sensory axonal neuropathy, Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb at... ORPHA:98764
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Impaired pain sensation, Distal sensory impairment, Steppage gait, Gait disturbance, Facial palsy... OMIM:607684
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Diffuse cerebral atrophy, Babinski sign, Dystonia, ... ORPHA:314632
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Somatic sensory dysfunction, Fasciculations, Axonal degeneration/regeneration, Decreased number o... OMIM:600882
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Infantile spasms, Tremor, Ataxia, Defective DNA repair after ultraviolet radiation da... OMIM:278780
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Gait ataxia, Dysmetria, Dystonia, Clumsiness, Babinski sign, Oculom... ORPHA:453521
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia OMIM:208700
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Progressive cerebellar ataxia, Spasticity, Cerebral atrophy, Impaired vibration sensation in the ... ORPHA:352641
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Difficulty walking, Distal sensory impairment, Peripheral axonal neuropathy, Decre... OMIM:617087
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Fiber type grouping, Distal amyotrophy, Tremor OMIM:614369
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Dyspnea, Dystonia, ... ORPHA:98810
Cerebellar Ataxia, Cayman Type
Broad-based gait, Cerebellar atrophy, Gait ataxia, Cerebellar hypoplasia, Dystonia, Ataxia, Trunc... OMIM:601238
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea, Edema OMIM:267450
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Seizure, Generalized non-motor (absence) seizure, Chorea, Paresthesia, Low... ORPHA:98811
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Merrf
Ragged-red muscle fibers, Myopathy, Ataxia ORPHA:551
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
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Scapulohumeral muscular dystrophy, Myopathy OMIM:160570
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Hand tremor, Gait ataxia, Bilate... OMIM:617862
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Somatic sensory dysfunction, Progressive extrapyramidal mu... ORPHA:240103
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor OMIM:611092
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia, Peripheral demyelination, CNS demyelination OMIM:250850
Metachromatic Leukodystrophy
Optic atrophy, Seizure, Chorea, Peripheral demyelination, Babinski sign, Gait disturbance, Tetrap... OMIM:250100
Spinocerebellar Ataxia 25
Cerebellar atrophy, Impaired pain sensation, Decreased number of peripheral myelinated nerve fibe... OMIM:608703
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Difficulty walking, Impaired vibration sensation in the lower limbs, Loss of ambulation, Peripher... ORPHA:137898
Joubert Syndrome 7
Episodic tachypnea, Tachypnea, Oculomotor apraxia, Central apnea, Ataxia OMIM:611560
Charcot-Marie-Tooth Disease, Type 4B3
Brain atrophy, Distal sensory impairment, Loss of ambulation, Gait disturbance, Onion bulb format... OMIM:615284
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Leukodystrophy, Tremor, Rigidity, Cerebra... OMIM:612438
Charcot-Marie-Tooth Disease, Type 4D
Distal sensory impairment, Gait disturbance, Impaired distal tactile sensation, Impaired distal p... OMIM:601455
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait ORPHA:284271
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Spasticity, Seizure, Respiratory distress, Myoclonus, Abnormality of extrapyramidal motor functio... OMIM:614299
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston... OMIM:617284
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Focal myoclonic seizure, Seizure, Progressive spastic paraplegia, Difficulty walking,... ORPHA:464282
Developmental And Epileptic Encephalopathy 37
Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Myoclonus, Cogwheel rigidity, Focal hem... OMIM:616981
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Spasticity, Leukodystrophy, Pseudobulbar paralysis, Abnormal cerebellum morphology, Babinski sign... OMIM:169500
Spinal Muscular Atrophy, Type Iii
Tongue fasciculations, Shoulder girdle muscle atrophy, Distal amyotrophy, Hand tremor, Lower limb... OMIM:253400
Spinocerebellar Ataxia Type 17
Blepharospasm, Involuntary movements, Spasticity, Cerebellar atrophy, Chorea, Rigidity, Dystonia,... ORPHA:98759
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development
Spastic paraplegia, Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Ankle cl... OMIM:607565
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast... OMIM:616795
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista... OMIM:608673
Developmental And Epileptic Encephalopathy 97
Inability to walk, Epileptic spasm, Tremor, Seizure OMIM:619561
Spinocerebellar Ataxia 49
Sensory axonal neuropathy, Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor fun... OMIM:619806
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Seizure, Chorea, Limb ataxia, Positive Romberg sign, Gait a... OMIM:607136
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:613608
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Broad-based gait, Impaired vibration sensation in the lower limbs, Peripheral demy... OMIM:609033
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Behr Syndrome
Optic atrophy, Sensory axonal neuropathy, Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetri... OMIM:210000
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Respiratory distress, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to ... ORPHA:240085
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, CNS hypomyelination, Seizure, Leukodystrophy, Abnormal cerebellum morphology,... OMIM:610532
Myopathy And Diabetes Mellitus
Impaired vibratory sensation, Tip-toe gait, Respiratory distress, Inability to walk, Babinski sig... ORPHA:2596
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Broad-based gait, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Seizure, Gait ataxia... OMIM:224050
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Tip-toe gait, Fasciculations, Axonal degeneration/regeneration, Distal sensory impairment, Axonal... OMIM:614436
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Trun... OMIM:607346
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Spinocerebellar Ataxia 46
Sensory axonal neuropathy, Cerebellar atrophy, Limb ataxia, Gait ataxia, Positive Romberg sign, D... OMIM:617770
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Cerebellar atrophy, Seizure, Cerebral atrophy, Neurodegeneration, Akinesia, ... OMIM:300894
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Poor fine motor coordination, Impaired pain sensation, Inability to walk, Dec... ORPHA:99948
Developmental And Epileptic Encephalopathy 32
Myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclo... OMIM:616366
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Seizure, Respiratory distress, Dystonia, Choreoathetosis, Dehydration ORPHA:79312
Klhl9-Related Early-Onset Distal Myopathy
Ankle flexion contracture, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles,... ORPHA:399081
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Action tre... OMIM:617665
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Spasticity, Cerebral cortical atrophy, CNS hypomyelination, Cerebellar atrophy, Se... OMIM:607694
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Seizure, Ataxia ORPHA:79242
Leber Hereditary Optic Neuropathy
Postural tremor, Myopathy, Ataxia ORPHA:104
Myopathy, Distal, With Anterior Tibial Onset
Myopathy OMIM:606768
Juvenile Neuronal Ceroid Lipofuscinosis
Poor motor coordination, Seizure, Episodic tachypnea, Apnea, Loss of ambulation, Clumsiness, Park... ORPHA:79264
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Seizure, Gait imbalance, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, U... OMIM:301020
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Spastic dysarthria, Progressive spastic paraplegia, Hand tremor, Lower... ORPHA:401830
Spinocerebellar Ataxia 50
Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Head tremor, Myoclonus, Action tremor, Pos... OMIM:620158
Developmental And Epileptic Encephalopathy 42
Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, Focal tonic seizure, Ata... OMIM:617106
Charcot-Marie-Tooth Disease Type 2B1
Sensory axonal neuropathy, Inability to walk, Decreased number of large peripheral myelinated ner... ORPHA:98856
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Seizure, Akinesia, Myoclonus, Distal sensory impairment, Rigidity... OMIM:606693
Spinocerebellar Ataxia Type 2
Cerebral cortical atrophy, Spinal cord posterior columns myelin loss, Fasciculations, Chorea, Pos... ORPHA:98756
Dystonia 12
Bradykinesia, Tremor, Dystonia, Parkinsonism, Torticollis, Unsteady gait OMIM:128235
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... OMIM:615424
Acetyl-Coa Carboxylase-Alpha Deficiency
Myopathy OMIM:613933
Developmental And Epileptic Encephalopathy 92
Spasticity, Seizure, Difficulty walking, Inability to walk, Myoclonus, Lethargy, Ataxia, Dystonia OMIM:617829
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Inability to walk, Extrapyramidal muscular rigidity, Action tremor, Dysmetria... ORPHA:93952
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Neurodegeneration, Chorea, Tremor, Rigidity, Dysto... OMIM:606159
Spinocerebellar Ataxia 27B, Late-Onset
Postural tremor, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:620174
Spinocerebellar Ataxia Type 28
Spasticity, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, Rigidity, Dystonia, Babinski si... ORPHA:101109
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Impaired distal tactile sensation, Impaired distal vibration sensation, Decreased number of perip... OMIM:607080
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Somatic sensory dysfunction, Limb myoclonus, Postural tremor, Limb ataxia, Ga... OMIM:619862
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Cerebral atrophy, Postural tremor, Gait atax... OMIM:600116
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Difficulty walking, Gait ataxia, Dysmetri... ORPHA:529665
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Ataxia, Global brain atrophy, Seizure, Cerebellar vermis atrophy, Impaired vi... ORPHA:94124
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Epileptic spasm, Tremor, Generalized t... OMIM:612164
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia ORPHA:210128
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Spasticity, Difficulty walking, Impaired tactile sensation, Abnormal pyramidal sign, Demyelinatin... ORPHA:98
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Spasticity, Focal dystonia, Chorea, Limb dystonia, Tremor, Rigidity, Clumsiness, P... ORPHA:216873
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,... OMIM:167320
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Seizure, Inability to walk, Cerebellar vermis atrophy, Chorea, Gait ataxia, Dysmetria, Ataxia OMIM:618501
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Gait disturbance, Choreoathetosis, Ataxia ORPHA:67047
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Somatic sensory dysfunction, Difficulty walking, Inability to walk, Tremor, ... ORPHA:101077
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Spastic paraparesis, Sensory axonal neuropathy, Seizure, Leukodystrophy, Cerebral ... OMIM:608804
Adult-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Upper limb muscle weakness, Lowe... ORPHA:171442
Abetalipoproteinemia
Peripheral demyelination, CNS demyelination, Ataxia OMIM:200100
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Seizure, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive ce... ORPHA:139485
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Sensory axonal neuropathy, Hypoplasia of the pons, Motor axonal neuropathy, Decreased number of p... OMIM:620542
Roussy-Lévy Syndrome
Impaired vibratory sensation, Impaired pain sensation, Somatic sensory dysfunction, Difficulty wa... ORPHA:3115
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Cerebellar vermis atrophy, Tremor, Ank... OMIM:617435
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Cerebellar atrophy, Seizure, Myoclonus, Tremor, Generalized tonic s... OMIM:612016
Spinocerebellar Ataxia 7
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... OMIM:164500
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Limb ataxia, Babinski sign, Progressive gait ataxia, Truncal ataxia, Progress... ORPHA:101112
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Spastic paraplegia, Postural tremor, Babinski sign, Gait disturbanc... ORPHA:100988
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Seizure, Cerebral atrophy, Inability to walk, Myoclonus, Gait ataxia, ... OMIM:618877
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Impaired pain sensation, Cerebellar vermis atrophy, Paresthesia, Limb ataxia, Gait at... OMIM:616719
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Impaired pain sensation, Tremor, Ataxia ORPHA:101075
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Spasticity, Loss of ambulation, Babinski sign, Tachypnea, Gait disturbance, Ataxia, Spastic tetra... OMIM:615838
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Shuffling gait, Pill-rolling tremor, Rigidity, Loss of ambulation, Dystonia, Parkinso... OMIM:615528
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cerebral cortical atrophy, Chorea, Paresthesia, Dysmetria, Peripheral hypomyelination, Abnormal p... ORPHA:48431
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Impaired vibratory sensation, Optic atrophy, Gait ataxia, Intention tremor, Peripheral axonal neu... OMIM:620221
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seiz... OMIM:618141
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Babinski s... OMIM:616204
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Tremor... OMIM:612736
Huntington Disease-Like 1
Involuntary movements, Abnormal posturing, Seizure, Incoordination, Chorea, Gait ataxia, Simultan... ORPHA:157941
Developmental And Epileptic Encephalopathy 109
Spasticity, Myoclonic seizure, Typical absence seizure, Crouch gait, Gait ataxia, Myoclonus, Foca... OMIM:620145
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Blepharospasm, Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, L... ORPHA:240094
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Difficulty walking, Peripheral axon... OMIM:619425
Monomelic Amyotrophy
Degeneration of anterior horn cells, Distal upper limb amyotrophy, Tremor, Fasciculations ORPHA:65684
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn... OMIM:160565
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Dysdiadochokinesis, Cerebellar atrophy, Myoclonus, Dysmetria, Ce... ORPHA:313772
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure OMIM:616341
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxi... OMIM:617633
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Seizure, Progressive extrapyramidal muscular rigidity, Abnormal posturing, Hemipl... ORPHA:225147
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Seizure, Cerebral atrophy, Tremor, Rigidi... ORPHA:329284
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Spasticity, Global brain atrophy, Seizure, Episodic ataxia, Difficulty walking, Gait ataxia, Inte... OMIM:614458
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity ORPHA:228169
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Cerebellar dentate nucleus calcification, Chorea, Dysmetria, Dystonia, Parkinsonism, Abnormal pyr... OMIM:618317
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Generalized-onset seizure, Difficulty walking, Myoclonus, Tremor, Facial p... OMIM:159950
Mitochondrial Complex I Deficiency, Nuclear Type 21
Spasticity, Ragged-red muscle fibers, Myopathy, Babinski sign, Ataxia OMIM:618242
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation OMIM:619405
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... OMIM:616924
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Cerebellar hypoplasia, Limb dystonia, Tremor, Ataxia OMIM:620270
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
CNS hypomyelination, Cerebellar atrophy, Seizure, Leukodystrophy, Difficulty walking, Cerebral at... ORPHA:527497
Juvenile Huntington Disease
Broad-based gait, Cerebellar atrophy, Seizure, Cerebellar vermis atrophy, Chorea, Gait ataxia, My... ORPHA:248111
Primary Dystonia, Dyt4 Type
Upper limb postural tremor, Blepharospasm, Involuntary movements, Generalized dystonia, Laryngeal... ORPHA:98805
Spinocerebellar Ataxia Type 21
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor fun... ORPHA:98773
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Inability to walk, Axonal degeneration, Decreased number of peripheral myelinat... OMIM:615490
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia OMIM:614229
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Spinocerebellar Ataxia 5
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Incoordination, Limb ataxia, ... OMIM:600224
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Myoclonus, Dysmetria, Bilateral tonic-clonic seizure, Ataxia OMIM:619191
Spinocerebellar Ataxia 44
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis OMIM:617691
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Broad-based gait, Seizure, Febrile seizure (within the age range of 3 months ... ORPHA:477673
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Impaired pain sensation, Tremor, Ataxia ORPHA:101078
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs ORPHA:1878
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Oculom... ORPHA:208513
Progressive Myoclonic Epilepsy Type 3
Optic atrophy, Cerebellar atrophy, Focal myoclonic seizure, Limb myoclonus, Febrile seizure (with... ORPHA:263516
Scapuloperoneal Myopathy, X-Linked Dominant
Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus... OMIM:300695
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Truncal a... ORPHA:352403
Spinal Muscular Atrophy, Type Ii
Tongue fasciculations, Skeletal muscle atrophy, Hand tremor, Spinal muscular atrophy, Degeneratio... OMIM:253550
Hemiparkinsonism-Hemiatrophy Syndrome
Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Cerebral cortical hemiatrophy, B... ORPHA:306669
Congenital Disorder Of Glycosylation, Type Iibb
Cerebellar vermis hypoplasia, Spasticity, Myoclonic seizure, Cerebellar atrophy, Tetraparesis, An... OMIM:620546
Hsd10 Disease
Optic atrophy, Spastic paraparesis, Frontotemporal cerebral atrophy, Seizure, Myoclonus, Tremor, ... ORPHA:391417
Glut1 Deficiency Syndrome 2
Cerebral atrophy, Seizure, Tremor, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi... OMIM:609270
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Fo... OMIM:615400
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Spasticity, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Limb ataxia, Limb dystonia, ... OMIM:617560
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Congenital Disorder Of Glycosylation, Type Iid
Myopathy, Decreased muscle mass OMIM:607091
Vitamin B12-Unresponsive Methylmalonic Acidemia
Seizure, Tetraparesis, Paraparesis, Ataxia, Choreoathetosis, Dehydration ORPHA:27
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Bilateral tonic-clonic... ORPHA:53583
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy, Ataxia OMIM:551500
Congenital Myopathy 16
Tongue tremor, Postural tremor, Scapular winging, Flexion contracture, EMG: myopathic abnormalities OMIM:618524
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Optic nerve hypoplasia, Demyelinating sensory neuropathy, Somatic s... ORPHA:101085
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Methionine Malabsorption Syndrome
Tachypnea, Seizure OMIM:250900
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Spasticity, Cerebellar atrophy, Generalized dystonia, Neurodegeneration, Tremor, A... OMIM:614298
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Tremor, Myoclonus, Seizure OMIM:615127
Joubert Syndrome 9
Episodic tachypnea, Oculomotor apraxia, Apnea, Seizure OMIM:612285
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt... ORPHA:1170
Spinocerebellar Ataxia 4
Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Babinski sign, Progressive cerebel... OMIM:600223
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Myoclonus, Cogwheel rigidity, Dystonia, Parkinsonism, Delayed CNS myelina... OMIM:619725
Dravet Syndrome
Incoordination, Action tremor, Focal hemiclonic seizure, Parkinsonism, Photosensitive tonic-cloni... ORPHA:33069
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Vocal cord paralysis, Distal sensory impairment, Peripheral hypomyelination OMIM:616287
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Flexion contracture, Scapular winging, Myopathy OMIM:616471
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Scapu... ORPHA:424107
Joubert Syndrome
Seizure, Abnormal pattern of respiration, Episodic tachypnea, Apnea, Tremor, Oculomotor apraxia, ... ORPHA:475
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Fasciculations, Facial diplegia, Foot dorsiflexor weakness... ORPHA:329478
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Hydrops fetalis ORPHA:45452
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Limb muscle weakness, Knee f... OMIM:610687
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Parkinsonism-Dystonia 3, Childhood-Onset
Global brain atrophy, Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, ... OMIM:619738
Slowed Nerve Conduction Velocity, Autosomal Dominant
Peripheral demyelination, Onion bulb formation OMIM:608236
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Abnormal muscle fiber morphology ORPHA:270
Spinocerebellar Ataxia Type 10
Focal impaired awareness seizure, Cerebellar atrophy, Generalized-onset seizure, Gait imbalance, ... ORPHA:98761
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Abnormal posturing, Generalized dystonia, Multiple joint contractures, Tremor, Bab... OMIM:128100
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d... OMIM:616710
Pelizaeus-Merzbacher Disease
Broad-based gait, Progressive spastic quadriplegia, Abnormal pyramidal sign, Ataxia, Choreoatheto... OMIM:312080
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Broad-based gait, Respiratory distress, Difficulty walking, Tachypnea, Ataxia, Dystonia, Choreoat... OMIM:610978
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Seizure, Cogwheel rigidity, Ankle clonus, Diffus... ORPHA:363654
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Spinal Muscular Atrophy, X-Linked 2
Tongue fasciculations, Multiple joint contractures, Myopathy, Spinal muscular atrophy, Flexion co... OMIM:301830
Spinocerebellar Ataxia 34
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Fasciculations, Limb ataxia, Gait atax... OMIM:133190
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Hand tremor, Cerebral atrop... OMIM:614409
3-Methylglutaconic Aciduria, Type Viib
Spasticity, Seizure, Respiratory distress, Myoclonus, Tremor, Hyperkinetic movements, Opisthotonu... OMIM:616271
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation i... ORPHA:320406
Propionic Acidemia
Seizure, Apnea, Tachypnea, Limb hypertonia, Dystonia, Dehydration OMIM:606054
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Tongue fasciculations, Increased variability in muscl... OMIM:271150
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia OMIM:609306
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Focal impaired awareness seizure, Seizure, Chorea, Abnormality of extrapyramidal motor fu... ORPHA:382
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers, Cerebral atrophy, Ataxia OMIM:614116
4H Leukodystrophy
Optic atrophy, Cerebellar atrophy, Seizure, Dysmetria, Tremor, Abnormality of extrapyramidal moto... ORPHA:289494
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Broad-based gait, Poor fine motor coordination, Impaired pain sensation, Tip-toe gait, Frequent f... ORPHA:435387
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tongue fasciculations, Cerebellar atrophy, Generalized non-motor (absence) seizure, Seizure, Cere... OMIM:618170
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Muscular dystrophy, Shoulder girdle muscle weakness, Quadriceps muscle atrophy, Calf muscle hyper... OMIM:611307
Spinocerebellar Ataxia 21
Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Akinesia, Abnormality of extrapyram... OMIM:607454
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Neurodegeneration, Gait ataxia, Cerebellar atrophy ORPHA:438134
Episodic Ataxia, Type 5
Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Episodic ... OMIM:613855
Amish Nemaline Myopathy
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Tremor, Proximal... ORPHA:98902
Spinocerebellar Ataxia With Epilepsy