Gene Summary

Name:
myotubularin related protein 2
Synonyms:
6030445P13Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased startle reflex Mtmr2em1(IMPC)Hmgu HOM Early adult 3.92×10-06
decreased circulating alkaline phosphatase level Mtmr2em1(IMPC)Hmgu HOM Early adult 1.13×10-06
increased mean platelet volume Mtmr2em1(IMPC)Hmgu HOM   Early adult 3.91×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 Mtmr2 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 Mtmr2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Charcot-Marie-Tooth Disease, Type 4B1
Irregular myelin loops, Abnormal auditory evoked potentials, Decreased motor nerve conduction vel... OMIM:601382

The table below shows human diseases predicted to be associated to Mtmr2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Guillain-Barre Syndrome, Familial
Acute demyelinating polyneuropathy OMIM:139393
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Incoordination, Cerebellar atrophy, Dysmetria, Hand tremor, Frequ... OMIM:302800
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Ulnar claw, CNS hypomyelination, Hammertoe, Hypertrophic nerve ch... OMIM:214400
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Hammertoe, Fasciculations, Axonal degeneration, Steppage gait, Ax... OMIM:614436
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Spastic paraplegia, Spasticity, Abnormal myelination, Babinski sign, Optic atr... ORPHA:431329
Optic Atrophy 2
Babinski sign, Tremor, Optic atrophy, Dysdiadochokinesis OMIM:311050
Charcot-Marie-Tooth Disease, Type 4J
Axonal loss, Frequent falls, Onion bulb formation, Decreased nerve conduction velocity, Decreased... OMIM:611228
Neuronopathy, Distal Hereditary Motor, Type Vc
Frequent falls, Thenar muscle atrophy, Chaddock reflex, Decreased compound muscle action potentia... OMIM:619112
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelinati... OMIM:605285
Subacute Inflammatory Demyelinating Polyneuropathy
Axonal loss, Abnormality of somatosensory evoked potentials, Abnormality of the autonomic nervous... ORPHA:206594
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Hammertoe, Onion bulb formation, Steppage gait, Decreased number of peripheral myelin... OMIM:609260
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Charcot-Marie-Tooth Disease Type 2B1
Axonal loss, Sensory axonal neuropathy, Hand muscle atrophy, Hammertoe, Decreased number of large... ORPHA:98856
Chronic Inflammatory Demyelinating Polyneuropathy
Peripheral demyelination, Segmental peripheral demyelination/remyelination, Abnormal nerve conduc... ORPHA:2932
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia OMIM:613112
Roussy-Levy Hereditary Areflexic Dystasia
Action tremor, Hammertoe, Hypertrophic nerve changes, Segmental peripheral demyelination/remyelin... OMIM:180800
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Abnormal cranial nerve morphology, Decreased number of large peri... OMIM:601596
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Spastic gait, Hand tremor, Lower limb spasticity, Abnormal myelin... ORPHA:401840
Null Syndrome
Progressive spastic paraplegia, Peripheral demyelination, CNS hypomyelination, Inability to walk,... ORPHA:280234
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Hammertoe, Onion bulb formation, Steppage gait, Axonal degeneration/regeneration, Decreased numbe... OMIM:118210
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Degeneration of anterior horn cells, Axonal degeneration, Decreased ... OMIM:604484
Leukodystrophy, Hypomyelinating, 18
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Dystonia, Abnormal m... OMIM:618404
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Babinski sign, Episodic ataxia, Abnormality of the hand, Slurred sp... OMIM:160120
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Ataxia, Gait disturbance, Distal upper limb amyotrophy, Tremor ORPHA:101075
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Cerebral atrophy, Hypogonadotropic hypogonadism, Peripheral demye... OMIM:604168
Charcot-Marie-Tooth Disease, Type 4H
Small thenar eminence, Small hypothenar eminence, Onion bulb formation, Peripheral hypomyelinatio... OMIM:609311
X-Linked Charcot-Marie-Tooth Disease Type 3
Intrinsic hand muscle atrophy, Spastic paraparesis, Inability to walk, Hand muscle weakness, Demy... ORPHA:101077
Monomelic Amyotrophy
Fasciculations, Degeneration of anterior horn cells, Distal upper limb amyotrophy, Abnormality of... ORPHA:65684
Hereditary Motor And Sensory Neuropathy V
Abnormal pyramidal sign, Frequent falls, Hammertoe, Peripheral axonal neuropathy, Decreased motor... OMIM:600361
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Abnormal sensory nerve conduction velocity, Intrinsic ha... ORPHA:276435
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Diffuse axonal swelling, ... OMIM:602433
Charcot-Marie-Tooth Disease Type 4A
Bilateral talipes equinovarus, Hyporeflexia of upper limbs, Frequent falls, Chronic axonal neurop... ORPHA:99948
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Spastic gait, Abnormal motor nerve conduction velocity, Split hand, Hand mus... ORPHA:100998
Giant Axonal Neuropathy 2, Autosomal Dominant
Hammertoe, Onion bulb formation, Steppage gait, Peripheral axonal neuropathy, Decreased motor ner... OMIM:610100
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormal pyramidal sign, Dystonia, Ataxia, Leukodystrophy, Spasticity, Hemiplegia, Gait disturban... OMIM:614561
Roussy-Lévy Syndrome
Frequent falls, Intrinsic hand muscle atrophy, Unsteady gait, Gait ataxia, Talipes equinovarus, D... ORPHA:3115
X-Linked Charcot-Marie-Tooth Disease Type 6
Hand tremor, Thenar muscle atrophy, Decreased nerve conduction velocity, Steppage gait, Difficult... ORPHA:352675
Autosomal Recessive Spastic Paraplegia Type 21
Abnormal pyramidal sign, Apraxia, Spasticity, Gait disturbance, Frontotemporal cerebral atrophy, ... ORPHA:101001
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Failure to thrive in infancy, Intrinsic hand muscle atrophy, Decreased number of large peripheral... ORPHA:90103
Leukodystrophy, Hypomyelinating, 2
Cerebral atrophy, Sensory axonal neuropathy, Dystonia, Choreoathetosis, Intention tremor, Spastic... OMIM:608804
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Neurodegeneration, Apr... OMIM:615157
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Talipes equinovarus, Axonal degeneration, Steppage gait, Gait disturbance OMIM:616155
Leukodystrophy, Hypomyelinating, 13
Ataxia, Leukodystrophy, Failure to thrive, Spasticity, Clonus, Delayed myelination, Optic atrophy... OMIM:616881
Macrothrombocytopenia and progressive sensorineural deafness
Giant platelets, Thrombocytopenia, Macrothrombocytopenia OMIM:600208
Sebastian syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:605249
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Spastic gait, Lower limb spasticity, Cerebral cortical atrophy, L... ORPHA:401820
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Vocal cord paralysis, Axonal degeneration, Decreased number of peripheral myel... OMIM:615490
Charcot-Marie-Tooth Disease, Axonal, Type 2O
Decreased motor nerve conduction velocity, Frequent falls, Falls OMIM:614228
Early-Onset X-Linked Optic Atrophy
Choreoathetosis, Intention tremor, Decreased nerve conduction velocity, Gait ataxia, Optic disc p... ORPHA:98890
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Ulnar claw, Chronic axonal neuropathy, Fasciculations, Steppage gait, Decreased motor nerve condu... OMIM:606595
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Metaphyseal chondrodysplasia, Diffuse cerebral atrophy, Gait disturbance, Bab... OMIM:300660
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Inability to walk, Steppage gait, Demyelinating motor neuropathy, Decreased nerve conduction velo... ORPHA:99939
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb form... OMIM:606482
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cerebral atrophy, Sensory axonal neuropathy, EEG abnormality, Dystonia, Premature pubarche, Crypt... ORPHA:457205
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Dystonia, Choreoathetosis, Decreased number o... OMIM:208920
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Hammertoe, Steppage gait, Axonal degeneration/regeneration, Decreased number of peripheral myelin... OMIM:600882
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Ulnar claw, Hammertoe, Hypertrophic nerve changes, Segmental peripheral demyelination/remyelinati... OMIM:118220
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Talipes cavus equinovarus, Segmental peripheral demyelination/remyelination, Onion b... OMIM:601455
Neuronopathy, Distal Hereditary Motor, Type Iid
Weakness of the intrinsic hand muscles, Fasciculations, Decreased motor nerve conduction velocity... OMIM:615575
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Charcot-Marie-Tooth Disease Type 4D
Hammertoe, Decreased amplitude of sensory action potentials, Split hand, Inability to walk, Demye... ORPHA:99950
Distal Hereditary Motor Neuropathy Type 5
Thenar muscle weakness, Abnormal motor nerve conduction velocity, Hammertoe, Thenar muscle atroph... ORPHA:139536
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Axonal degeneration, Failure to thrive, Tongue fasciculations, Clonus, Falls OMIM:618811
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Onion bulb formation, Steppage gait, Axonal degeneration/regeneration, Decreased number of periph... OMIM:605588
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Decreased nerve conduction velocity, Gait disturbance ORPHA:101078
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:615376
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Peripheral axonal neuropathy, Spasticity, Babinski sign, Tremor OMIM:611105
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Ataxia, Paraparesis, Gait disturbance, Optic atrophy, Tremor ORPHA:99014
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
Charcot-Marie-Tooth Disease Type 4G
Peripheral demyelination, Demyelinating peripheral neuropathy, Motor conduction block, Distal upp... ORPHA:99953
Intellectual Developmental Disorder, Autosomal Recessive 4
Delayed myelination OMIM:611107
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Ulnar claw, Peripheral demyelination, Hammertoe, Hypertrophic nerve changes, Myelin outfoldings, ... OMIM:118200
Charcot-Marie-Tooth Disease, Type 4B2
Ulnar claw, Hammertoe, Segmental peripheral demyelination/remyelination, Onion bulb formation, St... OMIM:604563
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis
Cerebral atrophy, Delayed myelination, Inability to walk, Tetraplegia OMIM:618331
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Ataxia, Decreased nerve conduction velocity, Tremor ORPHA:1368
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Axonal regeneration, Onion bulb formation, Steppage gait, Hammertoe OMIM:615185
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Fasciculations, Bradykinesia, Ataxia, Decreased nerve conduction velocity, Rigidity, Spasticity OMIM:183050
Parkinsonism With Polyneuropathy
Resting tremor, Decreased amplitude of sensory action potentials, Bradykinesia, Decreased motor n... OMIM:619279
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Axonal degeneration, Decreased nerve conduction velocity... OMIM:618138
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Progressive spastic paraplegia, Sensory axonal neuropathy, Spastic paraplegia, Abnormal autonomic... ORPHA:139578
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Diff... OMIM:618912
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Ataxia, Unsteady gait, Tremor OMIM:615945
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Decreased nerve conduction velocity, Fai... OMIM:618356
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Decreased nerve conduction velocity, Gait disturbance, Brain atrophy, Synda... OMIM:615284
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... OMIM:608673
Charcot-Marie-Tooth Disease Type 1A
Demyelinating peripheral neuropathy, Decreased sensory nerve conduction velocity, Decreased motor... ORPHA:101081
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Brachydactyly, Premature ovarian insufficiency, Decreased nerve conduction velocity, Truncal obes... ORPHA:2928
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Peripheral demyelination, Decreased nerve conduction velocity, Gait disturbance ORPHA:99944
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Ataxia, Gait ataxia, Rigidity, Limb ataxia, Tremor OMIM:617018
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, U... ORPHA:98769
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Proximal muscle weakness in upper limbs, Hand muscle atrophy, Frequent falls, Hammertoe, Steppage... ORPHA:435387
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Segmental peripheral demyelination/remyelination, Myelin outfoldings, Onion bulb formation, Clust... OMIM:607734
Pelizaeus-Merzbacher disease
Leukodystrophy, Abnormal CNS myelination DECIPHER:38
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination, Froment sign, Hand muscle weakness, Vocal cord ... OMIM:162500
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Ulnar claw, Hammertoe, Decreased distal sensory nerve action potential, Peripheral axonal neuropa... OMIM:618400
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Dystonia, Apraxia, Ataxia, Spasticity, Neurodegeneration, Premature ovarian i... OMIM:615889
Hypertrophic Neuropathy Of Dejerine-Sottas
Ulnar claw, Hammertoe, Hypertrophic nerve changes, Segmental peripheral demyelination/remyelinati... OMIM:145900
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Peripheral demyelination, Vocal cord paresis, Decreased number of large peripheral myelinated ner... OMIM:614895
Spinocerebellar Ataxia Type 1
Abnormality of somatosensory evoked potentials, Atrophy/Degeneration affecting the brainstem, Cer... ORPHA:98755
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Cerebral atrophy, Failure to thrive, Spasticity, Delayed myelination, Difficulty walking OMIM:617393
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Spastic tetraparesis, Peripheral demyelination, Decreased nerve conduction velocity, Gait ataxia,... OMIM:249900
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination, Hand tremor ORPHA:401835
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, EEG with photoparoxysmal response, Enhancement of the C-reflex, ... OMIM:613608
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis, Onion bulb formation, Axonal degeneration/regeneration, Decreased number of p... OMIM:607706
Leukodystrophy, Hypomyelinating, 5
Intention tremor, Loss of ability to walk, Inability to walk, Onion bulb formation, Leukodystroph... OMIM:610532
Spinocerebellar Ataxia Type 38
Gait ataxia, Cerebellar atrophy, Difficulty walking, Tremor ORPHA:423296
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Peripheral axonal neuropathy, Spas... OMIM:607317
Spinocerebellar Ataxia 23
Cerebellar atrophy, Dysmetria, Gait ataxia, Neuronal loss in central nervous system, Limb ataxia,... OMIM:610245
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Difficulty walking, Tremor OMIM:158580
Charcot-Marie-Tooth Disease, Type 4B1
Irregular myelin loops, Abnormal auditory evoked potentials, Decreased motor nerve conduction vel... OMIM:601382
Spinocerebellar Ataxia, Autosomal Recessive 16
Ankle clonus, Cerebellar atrophy, Unsteady gait, Limb ataxia, Spasticity, Truncal ataxia, Babinsk... OMIM:615768
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:155100
Spinocerebellar Ataxia Type 31
Gait ataxia, Cerebellar atrophy, Spasticity, Tremor ORPHA:217012
Cyanide-Induced Parkinsonism-Dystonia
Parkinsonism, Short stepped shuffling gait, Resting tremor, Shuffling gait, Bradykinesia, Rigidit... ORPHA:306692
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Steppage gait OMIM:302801
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity OMIM:162600
Krabbe Disease
Decerebrate rigidity, Peripheral demyelination, EEG abnormality, Decreased nerve conduction veloc... OMIM:245200
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Steppage gait OMIM:607678
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Ataxia, Tremor OMIM:213000
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in upper limbs, Cervical spinal cord atrophy, Optic nerve hypoplasia, Sc... ORPHA:101085
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Dysmetria, Hammertoe, Ataxia, Steppage gait, Gait ataxia, Peripheral axonal n... OMIM:618387
Developmental And Epileptic Encephalopathy 91
Cerebral atrophy, Unsteady gait, Multifocal epileptiform discharges, Spasticity, Delayed myelinat... OMIM:617711
Spastic Ataxia, Charlevoix-Saguenay Type
Spastic gait, Dysmetria, Hammertoe, Cerebellar vermis atrophy, Falls, Decreased number of large p... OMIM:270550
Spinocerebellar Ataxia 18
Cerebellar atrophy, Dysmetria, Sensory axonal neuropathy, Progressive gait ataxia, Dysdiadochokin... OMIM:607458
Late-Infantile/Juvenile Krabbe Disease
Frequent falls, EEG with persistent abnormal rhythmic activity, Spastic diplegia, Spastic parapar... ORPHA:206443
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Onion bulb formatio... OMIM:605253
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Limb fasciculations, Abnormal peripheral action potenti... ORPHA:90117
Behr Syndrome
Cerebellar atrophy, Dysmetria, Ataxia, Progressive spasticity, Gait disturbance, Babinski sign, O... OMIM:210000
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... OMIM:231200
Dystonia 23
Cerebellar atrophy, Axial dystonia, Head tremor, Limb dystonia, Cerebral cortical atrophy, Gait d... OMIM:614860
Epilepsy, Progressive Myoclonic, 1B
Sensory axonal neuropathy, Dysmetria, Babinski sign, Tremor OMIM:612437
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Peripheral axonal degeneration, Small for gestational age, Degeneration of anterior horn cells, A... OMIM:604320
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, EEG wit... OMIM:601068
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebral atrophy, Cerebellar atrophy, Action tremor, Parkinsonism, Apraxia, Bradykinesia, Impaire... OMIM:300423
Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome
Bilateral talipes equinovarus, Hypogonadotropic hypogonadism, Inability to walk, Demyelinating pe... ORPHA:2560
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Cerebellar vermis atrophy, Cogwheel rigidity, Myoclonus, Gait disturbance, Li... ORPHA:363710
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Segmental peripheral demye... OMIM:601098
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Abnormal vagina... ORPHA:168563
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Axonal loss, Cerebral atrophy, Cerebellar atrophy, Decreased body weight, Peripheral demyelinatio... OMIM:617672
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal sensory nerve conduction velocity, Ataxia, Axonal degeneration, Abnormality of periphera... ORPHA:88628
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormal pyramidal sign, Dysmetria, Hypogonadotropic hypogonadism, Intention tremor, Ataxia, Cere... ORPHA:48431
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Tremor OMIM:617917
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Hyperkinetic movements, Tremor OMIM:616921
Developmental And Epileptic Encephalopathy 58
Spastic diplegia, Inability to walk, Delayed myelination, Optic atrophy, Hypsarrhythmia OMIM:617830
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Ankle clonus, Dysmetria, Poor coordination, Spasticity, Clumsiness, Babinski sign, Spastic ataxia... OMIM:270500
Spinocerebellar Ataxia Type 12
Cerebral atrophy, Cerebellar atrophy, Action tremor, Abnormal pyramidal sign, Parkinsonism, Inten... ORPHA:98762
Autosomal Recessive Spastic Paraplegia Type 69
Progressive spastic paraplegia, Hand tremor, Spastic dysarthria, Lower limb spasticity, Cerebral ... ORPHA:401830
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Tremor ORPHA:494526
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Palmoplantar hyperkeratosis, Spastic paraplegia, Tremor OMIM:309560
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, CNS hypomyelination, Ataxia, Leukodystrophy, Failure to thrive, Spasticity, M... OMIM:616494
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination, Dystonia OMIM:250850
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... OMIM:260300
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Inability to walk, Facial diplegia OMIM:618184
Parkinson Disease 2, Autosomal Recessive Juvenile
Cerebral atrophy, Parkinsonism, Dystonia, Bradykinesia, Rigidity, Gait disturbance, Tremor OMIM:600116
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Dystonia, Choreoathetosis, Ataxia, Leukodystrophy, Rigidity, Spasticity, Cere... OMIM:612438
Neuronal Intranuclear Inclusion Disease
Ataxia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, R... OMIM:603472
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor OMIM:608687
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Inability to walk, Hypsarrhythmia, Tremor OMIM:619561
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Myh9-Related Disease
Giant platelets, Congenital thrombocytopenia, Increased mean platelet volume, Neutrophil inclusio... ORPHA:182050
Slowed Nerve Conduction Velocity, Autosomal Dominant
Peripheral demyelination, Onion bulb formation, Decreased nerve conduction velocity OMIM:608236
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Difficulty walking, Hammertoe, Tremor OMIM:615048
Atypical Pantothenate Kinase-Associated Neurodegeneration
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Tremor, Limb dystonia, Upp... ORPHA:216873
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Decreased motor nerv... OMIM:607831
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Decreased nerve conduction velocity, Steppage gait OMIM:302802
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Decreased nerve conduction velocity, Spa... OMIM:612674
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Gabriele-De Vries Syndrome
Dystonia, Cryptorchidism, Long fingers, Delayed myelination, Waddling gait, Tremor OMIM:617557
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Giant platelets, Splenomegaly, Elevated circ... OMIM:210250
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Ulnar claw, Hammertoe, Steppage gait, Hypotrophy of the small hand muscles, Decreased motor nerve... OMIM:607684
Parkinson Disease 22, Autosomal Dominant
Orthostatic hypotension, Resting tremor, Bradykinesia, Gait disturbance, Tremor OMIM:616710
Spinocerebellar Ataxia Type 20
Kinetic tremor, Cerebellar atrophy, Abnormal pyramidal sign, Isometric tremor, Intention tremor, ... ORPHA:101110
Triose Phosphate-Isomerase Deficiency
Central nervous system degeneration, Diaphragmatic paralysis, Decreased nerve conduction velocity ORPHA:868
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Dysmetria, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Babins... OMIM:159550
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Hand tremor, Chronic axonal neuropathy, Frequent falls, Decreased number of large peripheral myel... OMIM:162400
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Atrophy of the spinal cord, Spastic gait, Decreased amplitude of sensory action potentials, Spast... OMIM:256840
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Optic disc pallor, Optic atrophy, Tremor OMIM:165300
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy, Dystonia, Choreoathetosis, Decreased nerve conduction velocity OMIM:614932
Slc35A1-Cdg
Neutropenia, Giant platelets, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Ankle clonus, Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Bradykinesia, Tremor,... ORPHA:521406
Fechtner syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:153640
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Cerebral atrophy, Dystonia, Inability to walk, Obesity, Ataxia, Lower limb spasticity, Talipes eq... OMIM:616756
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Myoclonus, Tremor OMIM:616187
Aicardi-Goutieres Syndrome 6
Dystonia, Loss of ability to walk, Leukodystrophy, Rigidity, Tremor OMIM:615010
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Split hand, Steppage gait, Hammertoe OMIM:118300
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Ataxia, Diffuse cerebral atrophy, Abnormality of extrapyramidal motor functio... OMIM:615362
Spinocerebellar Ataxia 10
Incoordination, Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Decreased nerve conductio... OMIM:603516
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Ataxia, Cerebral cortical atrop... OMIM:617862
Autosomal Spastic Paraplegia Type 58
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Peripheral demyelination, Frequent falls, Abnorm... ORPHA:397946
Ataxia-Deafness-Intellectual Disability Syndrome
Cerebral cortical atrophy, Ataxia, Decreased nerve conduction velocity ORPHA:1188
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Abnormal pyramidal sign, Obesity, Ataxia, Unsteady gait, Optic atrophy, Tremor OMIM:614947
Dystonia, Dopa-Responsive
Incoordination, Dystonia, Resting tremor, Bradykinesia, Cogwheel rigidity, Gait ataxia, Spasticit... OMIM:128230
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Hemiplegia, Hemiparesis, Tremor OMIM:141500
Paralysis Agitans, Juvenile, Of Hunt
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Gait disturbance, Tremor OMIM:168100
Lopes-Maciel-Rodan Syndrome
Ankle clonus, Cerebral atrophy, Cerebellar atrophy, Abnormal pyramidal sign, Dystonia, Caudate at... OMIM:617435
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Frequent falls, Fasciculations, Gait ataxia, Spasticity, Head titu... OMIM:611302
Friedreich Ataxia
Impaired visually enhanced vestibulo-ocular reflex, Sensory axonal neuropathy, Dysmetria, Dystoni... ORPHA:95
Epilepsy, Familial Adult Myoclonic, 4
Enhancement of the C-reflex, Jerk-locked premyoclonus spikes, Myoclonus, Tremor OMIM:615127
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in upper limbs, Atrophy of the spinal cord, Abnormality of peripheral so... ORPHA:466768
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Axonal loss, Proximal muscle weakness in upper limbs, Frequent fa... ORPHA:101097
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Dystonia, Bradykinesia, Rigidity, Diffuse cerebral atrophy, Babinski sign, Gait disturbance, Post... ORPHA:314632
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Cerebral atrophy, Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Neuronal l... OMIM:615924
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Hammertoe OMIM:613287
Cednik Syndrome
Diffuse palmoplantar hyperkeratosis, Ataxia, Abnormality of peripheral nerve conduction, Optic at... ORPHA:66631
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Abnormal motor nerve conduction velocity, Camptodactyly of finger, Failure to thrive, Tongue fasc... OMIM:614399
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Myoclonic spasms, Ataxia, EEG with gen... ORPHA:79263
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Dystonia, Global brain atrophy, Optic neuropathy, Axonal degeneration, Delaye... OMIM:616811
Metachromatic Leukodystrophy
Dystonia, Peripheral demyelination, Spastic tetraplegia, Ataxia, Decreased nerve conduction veloc... OMIM:250100
Autosomal Recessive Spastic Paraplegia Type 46
Cerebral atrophy, Cerebellar atrophy, Abnormal pyramidal sign, Infertility, Abnormal sperm morpho... ORPHA:320391
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Peripheral axonal neuropathy, Ataxia, Tremor OMIM:619099
X-Linked Charcot-Marie-Tooth Disease Type 2
Hand tremor, Intrinsic hand muscle atrophy, Optic neuropathy, Spastic paraparesis, Hand muscle we... ORPHA:101076
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Delayed CNS myelination, Cerebral cortical atrophy, Spasticity, Optic atrophy, Tremor OMIM:300983
Parkinson Disease 19A, Juvenile-Onset
Abnormal pyramidal sign, Parkinsonism, Dystonia, Shuffling gait, Bradykinesia, Rigidity, Spastici... OMIM:615528
Combined Oxidative Phosphorylation Defect Type 29
Myoclonic spasms, Global brain atrophy, Optic neuropathy, Axonal degeneration, Abnormal autonomic... ORPHA:478029
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor OMIM:618425
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Babinski sign, Decreased motor nerve conduction velocity, Split hand, Hammertoe OMIM:605726
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Weakness of the intrinsic hand muscles, Distal upper limb muscle weakness, Weak grip, Distal uppe... OMIM:619519
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Neurodegeneration, Spastic tetraplegia, Spastic paraparesis, Bradykinesia, Tip-toe gait... OMIM:615643
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Generalized dystonia, Focal dystonia, Motor stereotypy... ORPHA:98807
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Dysmetria, Inability to walk, Rigidity, Gait disturbance, Tremor OMIM:618090
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
2-3 toe syndactyly, Tapered finger, Onion bulb formation, Decreased sensory nerve conduction velo... OMIM:218000
Neurodegeneration With Brain Iron Accumulation 5
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, ... OMIM:300894
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Peripheral axonal degeneration, Orthostatic hypotension, Axonal degeneration, Decreased number of... OMIM:608720
Adrenomyeloneuropathy
Peripheral axonal degeneration, Cerebral dysmyelination, Atrophy of the spinal cord, Spastic gait... ORPHA:139399
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Alpha-Methylacyl-Coa Racemase Deficiency
Hypergonadotropic hypogonadism, Spasticity, Ataxia, Tremor OMIM:614307
Spinocerebellar Ataxia Type 40
Dysmetria, Intention tremor, Pontocerebellar atrophy, Spastic paraparesis, Unsteady gait, Gait at... ORPHA:423275
Yuan-Harel-Lupski Syndrome
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Unsteady gait, Gait ata... OMIM:616652
Developmental And Epileptic Encephalopathy 16
Cerebral atrophy, Dystonia, Hemiparesis, Delayed myelination, Abnormality of extrapyramidal motor... OMIM:615338
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Hand tremor, Sensory axonal neuropathy, Akinesia, Gait ataxia, Limb ataxia, G... ORPHA:98764
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Dysmetria, Dystonia, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Gai... OMIM:617145
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Cerebellar atrophy, Abnormal pyramidal sign, Spastic tetraplegia, Ataxia, Decre... OMIM:256600
De Sanctis-Cacchione Syndrome
Cerebral atrophy, Choreoathetosis, Global brain atrophy, Bilateral coxa valga, Gonadal hypoplasia... OMIM:278800
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor ORPHA:401901
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Pontocerebellar atrophy, Spastic paraparesis, Unsteady gait, Dysdiad... OMIM:616053
Primary Dystonia, Dyt27 Type
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... ORPHA:464440
Adult-Onset Distal Myopathy Due To Vcp Mutation
Weakness of the intrinsic hand muscles, Frequent falls, Parkinsonism, Intrinsic hand muscle atrop... ORPHA:329478
Spastic Paraparesis And Deafness
Spastic paraparesis, Hypogonadism, Tremor OMIM:312910
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Dystonia, Spastic dysarthria, Tremor, Spastic paraplegia, Lower limb sp... ORPHA:251282
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Peripheral dysmyelination, Decreased nerve conduction velocity ORPHA:101082
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Dystonia, Spastic te... OMIM:612319
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Dysmetria, Intention tremor, Hypospadias, Ataxia, Leukodystrophy, Delayed CNS myelination, Head t... OMIM:618688
Combined Oxidative Phosphorylation Defect Type 39
Ankle clonus, Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, EEG abnormality, Cr... ORPHA:565624
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Ataxia, Intention tremor OMIM:302500
Glut1 Deficiency Syndrome 2
Cerebral atrophy, EEG abnormality, Dystonia, Choreoathetosis, Ataxia, Tremor OMIM:612126
Pelizaeus-Merzbacher Disease
Dystonia, Cerebellar vermis atrophy, Global brain atrophy, Spastic paraplegia, Tremor, Cerebral d... OMIM:312080
Glutathionuria
Tremor OMIM:231950
Metachromatic Leukodystrophy, Late Infantile Form
Frequent falls, Dystonia, Decerebrate rigidity, Decreased nerve conduction velocity, Gait ataxia,... ORPHA:309256
Spinocerebellar Ataxia 12
Cerebellar atrophy, Dysmetria, Action tremor, Parkinsonism, Axial dystonia, Head tremor, Progress... OMIM:604326
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Failure to thrive, Abnormal CNS myelination, Babinski sign, Difficulty walkin... ORPHA:477673
Spinocerebellar Ataxia, Autosomal Recessive 17
Truncal ataxia, Dysmetria, Tremor, Unsteady gait OMIM:616127
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Dystonia, Oculogyric crisis, Inability to walk, Diffuse cerebral atrophy, Del... ORPHA:330050
Non-Specific Early-Onset Epileptic Encephalopathy
Cerebral atrophy, Involuntary movements, Limb hypertonia, Ataxia, Hypsarrhythmia, Unsteady gait, ... ORPHA:442835
Spastic Paraplegia 78, Autosomal Recessive
Cerebellar atrophy, Abnormal pyramidal sign, Parkinsonism, Resting tremor, Spastic tetraplegia, B... OMIM:617225
Developmental And Epileptic Encephalopathy 32
Ataxia, Myoclonus, Tremor OMIM:616366
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Cerebral cortical hemiatrophy, Dystonia, Bradykinesia, Hemiparesis, Difficulty walk... ORPHA:306669
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Peripheral axonal neuropathy, Abnormality of the hand, Tremor OMIM:616668
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Brachial plexus neuropathy, Axonal degeneration OMIM:162100
Cerebrotendinous Xanthomatosis
Dystonia, Global brain atrophy, Abnormality of the hand, Paraparesis, CNS demyelination, Abnormal... ORPHA:909
Neuroectodermal Melanolysosomal Disease
Hypertonia, Cerebral cortical hemiatrophy, Ataxia, Rigidity, Cerebral cortical atrophy, Spasticit... ORPHA:33445
Atypical Juvenile Parkinsonism
Abnormal pyramidal sign, Short stepped shuffling gait, Dystonia, Shuffling gait, Resting tremor, ... ORPHA:391411
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Abnormal myelination, Cerebellar atrophy, Inability to walk, Optic atrophy OMIM:618324
Spinocerebellar Ataxia 48
Cerebellar atrophy, Dysmetria, Dystonia, Parkinsonism, Ataxia, Gait ataxia, Chorea, Cachexia, Bab... OMIM:618093
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Fasciculations, Degeneration of anterior horn cells, Tongue fasciculations, Facia... OMIM:159950
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Frequent falls, Intention tremor, Spastic dysarthria, Unsteady gait, Nonprogressiv... ORPHA:314978
Spinocerebellar Ataxia, Autosomal Recessive 21
Cerebellar atrophy, Frequent falls, Ataxia, Gait ataxia, Spasticity, Talipes equinovarus, Tremor OMIM:616719
Cln5 Disease
EEG with generalized slow activity, Cerebellar atrophy, Dysmetria, Atrophy/Degeneration affecting... ORPHA:228360
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Elbow flexion contracture, Optic atrophy, Broad-based gait, Tremor OMIM:619470
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Dysmetria, Action tremor, Calcaneovalgus deformity, Hyporeflexia of upper lim... ORPHA:93952
Caribbean Parkinsonism
Orthostatic hypotension, Action tremor, Dystonia, Parkinsonism, Autonomic bladder dysfunction, Ap... ORPHA:97355
Spinocerebellar Ataxia Type 14
Cerebellar vermis atrophy, Gait ataxia, Progressive cerebellar ataxia, Rigidity, Limb ataxia, Myo... ORPHA:98763
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity OMIM:614751
Infantile Neuroaxonal Dystrophy
Diffuse axonal swelling, Cerebellar atrophy, Dystonia, Spastic tetraparesis, Abnormal pyramidal s... ORPHA:35069
Folinic Acid-Responsive Seizures
EEG with generalized slow activity, Cerebellar atrophy, Spastic tetraparesis, Dystonia, Ataxia, H... ORPHA:79097
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Cerebral atrophy, Cerebellar atrophy, Hypertonia, Dysmyelinating leukodystrophy, Tremor, Unsteady... ORPHA:137898
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Lower limb spasticity, Spastic paraplegia, Degeneration of the lateral corticospina... OMIM:600363
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Dysmetria, EEG abnormality, Apraxia, Inability to walk, Gait ataxia, Spastici... OMIM:617810
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Prolonged somatosensory evoked potentials, Writer's cramp, Myoclonus, Tremor OMIM:608105
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Delayed myelination OMIM:618339
Metachromatic Leukodystrophy, Juvenile Form
Frequent falls, Dystonia, Intention tremor, Decreased nerve conduction velocity, Leukodystrophy, ... ORPHA:309263
Wild Type Abeta2M Amyloidosis
Axonal loss, Tetraparesis, Decreased amplitude of sensory action potentials, Abnormality of the t... ORPHA:85446
Pelizaeus-Merzbacher Disease, Classic Form
Abnormality of somatosensory evoked potentials, Spastic tetraparesis, Abnormal pyramidal sign, Dy... ORPHA:280219
Acromicric Dysplasia
Brachydactyly, Short palm, Short metacarpal, Fifth metacarpal with ulnar notch, Decreased nerve c... ORPHA:969
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Splenomegaly, Increased mean platelet volume, Stomatocytosis OMIM:153670
Corticobasal Syndrome
Parkinsonism, Dystonia, Involuntary movements, Bradykinesia, Akinesia, Limb dystonia, Limb apraxi... ORPHA:454887
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased numbe... OMIM:201300
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Ataxia, Spasticity, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Intellectual Developmental Disorder, X-Linked, Syndromic 13
EEG with generalized slow activity, Spastic gait, Dystonia, Resting tremor, Shuffling gait, Parki... OMIM:300055
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Combined Oxidative Phosphorylation Defect Type 13
Choreoathetosis, Decreased nerve conduction velocity, Limb dystonia, Failure to thrive, Lower lim... ORPHA:319514
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Cerebral atrophy, Cerebellar atrophy, Dystonia, Involuntary movements, Inability to walk, Ataxia,... OMIM:617804
Macular Degeneration, Age-Related, 3
Peripheral axonal neuropathy, Decreased nerve conduction velocity OMIM:608895
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Ataxia, Impaired tandem gait, Myoclonus, Tr... OMIM:619028
Spinocerebellar Ataxia 7
Dysmetria, Progressive cerebellar ataxia, Spasticity, Chorea, Babinski sign, Abnormality of extra... OMIM:164500
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Vestibular areflexia, Dysmetria, Intention tremor, Demyelinating peripheral neuropathy, Gait atax... ORPHA:504476
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Dysmetria, Ataxia, Unsteady gait, Gait ataxia, Spasticity, Limb ataxia, Tremor OMIM:213200
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dysmetria, Dystonia, CNS hypomyelination, Abnormal pyramidal sign, Intention ... OMIM:614381
Jaberi-Elahi Syndrome
Cerebellar atrophy, Dysmetria, Dystonia, Choreoathetosis, Inability to walk, Gait ataxia, Failure... OMIM:617988
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Cerebral atrophy, Cerebellar atrophy, CNS hypomyelination, Decreased motor nerve conduction veloc... OMIM:601170
Atypical Rett Syndrome
EEG abnormality, Dystonia, Pill-rolling tremor, Apraxia, Loss of ability to walk, Involuntary mov... ORPHA:3095
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Resting tremor, Involuntary movements, Ataxia, Peripheral axonal neuropathy, Progressiv... ORPHA:401768
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Ataxia, Tremor OMIM:618951
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Dysmetria, Short palm, Global brain atrophy, Small hand, Dysdiadochokinesis, ... OMIM:610185
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Hypertrophic nerve changes, Decreased motor nerve conduction velocity DECIPHER:29
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Abnormal lower motor neuron morphology, Frequent falls, Inability to walk, Limb... ORPHA:2590
Developmental And Epileptic Encephalopathy 17
Cerebral atrophy, Dystonia, Athetosis, Chorea, Delayed myelination, Hypsarrhythmia OMIM:615473
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Abnormal pyramidal sign, Dystonia, Talipes cavus equinovarus, Progressive cer... ORPHA:139485
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Dystonia 27
Action tremor, Laryngeal dystonia, Postural tremor, Writer's cramp, Oromandibular dystonia OMIM:616411
4H Leukodystrophy
Cerebellar atrophy, Dysmetria, Dystonia, Dysdiadochokinesis, Hypogonadotropic hypogonadism, Ataxi... ORPHA:289494
Epilepsy, Familial Adult Myoclonic, 2
Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, Blephar... OMIM:607876
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... OMIM:314250
Metachromatic Leukodystrophy, Adult Form
Frequent falls, Dystonia, Intention tremor, Decreased nerve conduction velocity, Leukodystrophy, ... ORPHA:309271
Pelger-Huet Anomaly
Giant platelets, Abnormality of neutrophils, Neutropenia, Hyposegmentation of neutrophil nuclei, ... OMIM:169400
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Ataxia, Small for gestational age, Tremor OMIM:278780
Myopathy, Spheroid Body
Waddling gait, Broad-based gait, Tremor OMIM:182920
Hsd10 Disease
Choreoathetosis, Spastic paraparesis, Ataxia, Rigidity, Gait disturbance, Frontotemporal cerebral... ORPHA:391417
Dystonia 12
Parkinsonism, Dystonia, Bradykinesia, Unsteady gait, Torticollis, Tremor OMIM:128235
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dysmetria, Dystonia, CNS hypomyelination, Hypogonadotropic hypogonadism, Atax... OMIM:607694
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia, Abnormality of peripheral nerve conduction ORPHA:101005
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Small for gestational age, Bradykinesia, Ata... OMIM:261640
Primary Dystonia, Dyt2 Type
Torsion dystonia, Generalized dystonia, Blepharospasm, Involuntary movements, Limb dystonia, Tort... ORPHA:99657
Inherited Creutzfeldt-Jakob Disease
Global brain atrophy, Progressive cerebellar ataxia, Tremor, Central nervous system degeneration,... ORPHA:282166
Multifocal Motor Neuropathy
Fasciculations, Limited wrist extension, Weakness of long finger extensor muscles, Motor conducti... ORPHA:641
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Cerebellar atrophy, Ataxia, Myoclonus, Tremor OMIM:612016
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with spike-wave complexes, Gait ataxia, Chorea, EEG with polyspike wave complexes, Truncal at... OMIM:618587
Beta-Propeller Protein-Associated Neurodegeneration
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, ... ORPHA:329284
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Cerebral atrophy, Hypertonia, Hemiballismus, Dystonia, Parkinsonism, Choreoathetosis, Inability t... OMIM:618877
Parkinson Disease 14, Autosomal Recessive
Parkinsonism, Dystonia, Global brain atrophy, Apraxia, Bradykinesia, Rigidity, Spasticity, Clumsi... OMIM:612953
Multiple System Atrophy
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Resting tremor, Female anorgasmia, Axial d... ORPHA:102
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Hypogonadism, Ataxia, Abnormal autonomic nervous system physio... ORPHA:97229
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Dystonia, Myoclonus, Tremor OMIM:619651
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Cerebellar atrophy, Dysmetria, Oculomotor apraxia, Progressive cerebellar ataxia, Progressive gai... ORPHA:284324
Autosomal Dominant Cerebellar Ataxia
Action tremor, Dystonia, Progressive cerebellar ataxia, Paraparesis, CNS demyelination, Abnormali... ORPHA:99
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Peripheral demyelination, Abnormal autonomic nervous system physiology, ... OMIM:252320
Spastic Paraplegia 79, Autosomal Recessive
Tetraparesis, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Neurodegeneration, Intention tremo... OMIM:615491
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Sialidosis Type 1
EEG abnormality, Ataxia, Decreased nerve conduction velocity, Myoclonus, Gait disturbance, Slurre... ORPHA:812
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Parkinsonism, Resting tremor, Bradykinesia, Craniofacial dystonia, Limb dysto... ORPHA:71517
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Ankle clonus, Abnormal pyramidal sign, Dystonia, ... ORPHA:52368
Autosomal Dominant Spastic Paraplegia Type 9B
Atrophy of the spinal cord, Spastic gait, Focal dystonia, Spastic dysarthria, Upper motor neuron ... ORPHA:447757
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Parkinsonism, Resting tremor, Shuffling gait, Obesity, Lower limb spasticity, Focal EEG discharge... ORPHA:3077
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Clinodactyly, Dystonia, Single transverse palmar crease, Tapered finger, Unsteady gait, Gait atax... OMIM:617807
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Abnormal pyramidal sign, Dystonia, Chronic axonal neuropathy, Pontocerebellar... OMIM:606002
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Inability to walk, Ataxia, Gait ataxia, D... OMIM:614831
Vocal Cord And Pharyngeal Distal Myopathy
Vocal cord paresis, Decreased nerve conduction velocity, Unsteady gait, Distal upper limb amyotro... ORPHA:600
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Ataxia, Cachexia ORPHA:1933
Developmental Delay And Seizures With Or Without Movement Abnormalities
EEG abnormality, Dystonia, Bradykinesia, Ataxia, Rigidity, Tremor OMIM:617836
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Abnormal pyramidal sign, Spastic paraparesis, Poor coordination, Decreased nerve conduction veloc... OMIM:238970
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Focal dystonia, Apraxia, Involuntary movements, Bradykin... ORPHA:240103
Spinocerebellar Ataxia 1
Dysmetria, Decreased amplitude of sensory action potentials, Fasciculations, Spinocerebellar atro... OMIM:164400
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral dysmyelination, Cerebral atrophy, Peripheral demyelination, Spastic tetraplegia, Cryptor... OMIM:609136
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Ataxia, Myoclonus, Tremor OMIM:614018
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebral atrophy, Cerebellar atrophy, Action tremor, Sensory axonal neuropathy, Shuffling gait, B... ORPHA:254886
Hypermanganesemia With Dystonia 2
Ankle clonus, Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Opisthotonus, General... OMIM:617013
Posterior Column Ataxia With Retinitis Pigmentosa
Peripheral demyelination, Ataxia, Decreased sensory nerve conduction velocity, Flexion contractur... OMIM:609033
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Parkinsonism, Dystonia, Shuffling gait, Oculogyric crisis, Abnormal autonomic ner... OMIM:618049
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Dysmetria, Hypertonia, Intention tremor, Tapered finger, Ataxia, Steppage gai... OMIM:616505
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypogonadotropic hypogonadism, Decreased number of large peripheral myelinated nerve fibers, Demy... ORPHA:298
Charcot-Marie-Tooth Disease Type 1E
Hand muscle atrophy, Hyporeflexia of upper limbs, Hammertoe, Inability to walk, Hand muscle weakn... ORPHA:90658
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Ataxia, Unsteady gait, Titubation, Tremor OMIM:619405
Spinocerebellar Ataxia 34
Cerebellar atrophy, Abnormal pyramidal sign, Intention tremor, Fasciculations, Ataxia, Gait ataxi... OMIM:133190
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Dystonia, Myoclonus, Tremor OMIM:619647
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Multiple System Atrophy, Cerebellar Type
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Resting tremor, Female anorgasmia, Axial d... ORPHA:227510
Charcot-Marie-Tooth Disease Type 4C
Cerebellar atrophy, Frequent falls, Hammertoe, Vocal cord paresis, Head tremor, Inability to walk... ORPHA:99949
Neurodegeneration With Brain Iron Accumulation 3
Parkinsonism, Dystonia, Choreoathetosis, Blepharospasm, Bradykinesia, Ataxia, Laryngeal dystonia,... OMIM:606159
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, EEG abnormality, Ataxia, Tremor OMIM:617831
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Cerebral atrophy, Ataxia, Tremor OMIM:618637
Urocanic Aciduria
Action tremor, Ataxia, Gait ataxia, Truncal ataxia, Broad-based gait ORPHA:210128
Mitochondrial Membrane Protein-Associated Neurodegeneration
Hand tremor, Dystonia, Frequent falls, Shuffling gait, Parkinsonism, Spastic paraparesis, Bradyki... ORPHA:289560
Multiple System Atrophy, Parkinsonian Type
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Resting tremor, Female anorgasmia, Axial d... ORPHA:98933
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Ataxia, Tremor OMIM:616421
Hereditary Methemoglobinemia
Cerebellar atrophy, Small for gestational age, Spastic tetraplegia, Global brain atrophy, Athetos... ORPHA:621
Spinocerebellar Ataxia 42
Cerebellar atrophy, Spastic gait, Abnormal pyramidal sign, Ataxia, Unsteady gait, Babinski sign, ... OMIM:616795
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Clinodactyly, Hypertonia, Syndactyly, Ataxia, Gait ataxia, Arachnodactyly, Brain atrophy, Myoclon... OMIM:619092
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Abnormal lower motor neuron morphology, Dystonia, Parkinsonism, Neurodegenera... OMIM:614298
Digital Extensor Muscle Aplasia-Polyneuropathy
Camptodactyly of finger, Abnormal nerve conduction velocity ORPHA:2926
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Dysmetria, EEG abnormality, Gait ataxia, Spasticity, Oculomotor apraxia, Diff... ORPHA:529665
Dopa-Responsive Dystonia
Parkinsonism, Dystonia, Generalized dystonia, Oculogyric crisis, Inability to walk, Leg dystonia,... ORPHA:255
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Dysdiadochokinesis, Bradykinesia, Athetosis, Rig... OMIM:213600
Parkinsonism With Spasticity, X-Linked
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign OMIM:300911
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Myoclonus, Tremor OMIM:159900
Atypical Progressive Supranuclear Palsy Syndrome
Freezing of gait, Abnormal pyramidal sign, Parkinsonism, Focal dystonia, Blepharospasm, Extrapyra... ORPHA:99750
Pelizaeus-Merzbacher Disease, Connatal Form
Inability to walk, Lower limb spasticity, Ataxia, Failure to thrive, Dystonic gait, Cerebral hypo... ORPHA:280210
Developmental And Epileptic Encephalopathy 56
EEG abnormality, Action tremor, Poor coordination, Ataxia, EEG with polyspike wave complexes, Bro... OMIM:617665
Adult-Onset Autosomal Dominant Leukodystrophy
Atrophy of the spinal cord, Action tremor, Orthostatic hypotension, Erectile dysfunction, Impoten... ORPHA:99027
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity... ORPHA:240085
Parkinson Disease 17
Parkinsonism, Resting tremor, Bradykinesia, Akinesia, Rigidity, Tremor OMIM:614203
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Ataxia, Gait ataxia, Poor motor coordin... ORPHA:1170
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Inability to walk, Myelin outfoldings, Hand muscle weakn... ORPHA:99956
Lethal Ataxia With Deafness And Optic Atrophy
Abnormality of somatosensory evoked potentials, EEG with focal epileptiform discharges, Ataxia, S... ORPHA:1187
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Action tremor, Dystonia, Hypertonia, Parkinsonism, Global brain atrophy, Atax... OMIM:619738
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Hand tremor, Frequent falls, Resting tremor, Shuffling gait, Focal dystonia, Pa... ORPHA:53351
Mitochondrial Complex I Deficiency, Nuclear Type 19
Cerebellar atrophy, Inability to walk, Athetosis, Rigidity, Gait disturbance, Delayed myelination... OMIM:618241
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Parkinsonism, Abnormal cranial nerve morphology, Resting tremor, Shuffling gait, Intention tremor... ORPHA:247234
Spinocerebellar Ataxia 15
Cerebellar atrophy, Action tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Postural tremor OMIM:606658
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Vocal cord paresis, Steppage gait, Axonal degeneration/regeneration, Decreased motor nerve conduc... OMIM:601152
Spinocerebellar Ataxia, Autosomal Recessive 31
Cerebral atrophy, Dystonia, Choreoathetosis, Clinodactyly of the 5th finger, Ataxia, Optic atroph... OMIM:619422
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Axonal loss, Orthostatic hypotension, Parkinsonism, Degeneration of anterior horn cells, Decrease... OMIM:118301
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Action tremor, Intention tremor, Gait ataxia, Postural tremor, Myoclonus OMIM:254900
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Failure to thrive in infancy, Axial dystonia, Spastic paraplegia, Decreased sensory nerve conduct... OMIM:619026
Neuromuscular Oculoauditory Syndrome
Sensory axonal neuropathy, Decreased amplitude of sensory action potentials, Decreased nerve cond... OMIM:618733
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Dysmetria, Action tremor, Resting tremor, Parkinsonism, Intention tremor, Bra... OMIM:300623
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Myoclonic spasms, Abnormal autonomic nervous system physiology, Rigidity, Clonus, Neuronal loss i... OMIM:614498
Xeroderma Pigmentosum, Complementation Group B
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Abnormal CNS myelination, Optic ... OMIM:610651
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Focal dystonia, Axial dystonia, Head tremor, Craniofacial dystonia, Unsteady ... ORPHA:420492
Spinocerebellar Ataxia Type 21
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Progressive cerebellar ataxia, Rigidity, Abnorm... ORPHA:98773
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
EEG abnormality, Inability to walk, Spasticity, Brain atrophy, Tremor OMIM:618718
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Tremor, Myoclonus, Hypertonia OMIM:261630
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Spastic paraparesis, Bradykinesia, Cogwheel rigidity, Diffuse cerebral atrophy, S... ORPHA:363654
Warburg Micro Syndrome 4
Cerebellar atrophy, Small scrotum, Spastic tetraplegia, Cryptorchidism, Micropenis, Inability to ... OMIM:615663
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Hypertonia, Inability to walk, Ataxia, Failure to thrive, Delayed CNS myelination, Tremor OMIM:619556
Developmental And Epileptic Encephalopathy 51
Cerebellar atrophy, Abnormal pyramidal sign, Dystonia, Inability to walk, Failure to thrive, Dela... OMIM:617339
Allan-Herndon-Dudley Syndrome
Abnormal pyramidal sign, Dystonia, Choreoathetosis, Small for gestational age, Failure to thrive ... ORPHA:59
Developmental And Epileptic Encephalopathy 44
Cerebral atrophy, Cerebellar atrophy, Dystonia, Athetosis, Failure to thrive, Spasticity, Delayed... OMIM:617132
Bernard-Soulier Syndrome
Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet ag... ORPHA:274
Hereditary Sensory And Autonomic Neuropathy Type 1
Abnormality of the autonomic nervous system, Decreased amplitude of sensory action potentials, In... ORPHA:36386
Infantile Krabbe Disease
Opisthotonus, Spastic diplegia, Lower limb spasticity, Decreased nerve conduction velocity, Failu... ORPHA:206436
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Cerebral atrophy, Enlargement of the wrists, Metaphyseal chondrodysplasia, Tip-toe gait, Spastic ... ORPHA:83629
Hurler-Scheie Syndrome
Abnormal pyramidal sign, Abnormal nerve conduction velocity ORPHA:93476
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor OMIM:610297
Lissencephaly 8
Abnormal myelination, Talipes equinovarus, Spasticity, Optic atrophy OMIM:617255
Parkinsonism-Dystonia 1, Infantile-Onset
Abnormal pyramidal sign, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Bradykinesia, Tre... OMIM:613135
Xeroderma Pigmentosum, Complementation Group F
Decreased body weight, Brain atrophy, Ataxia, Tremor OMIM:278760
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Dystonia, Resting tremor, Intention tremor, Bradykinesia, Ataxia, Cogwheel rigidity... OMIM:619725
Autosomal Recessive Spastic Paraplegia Type 55
Optic neuropathy, Spastic paraparesis, Onion bulb formation, Lower limb spasticity, Decreased sen... ORPHA:320375
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Dysmetria, Ataxia, Unsteady gait, Oculomotor apraxia, Tremor OMIM:614867
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Ulnar deviation of the 2nd finger, Dysmetria, EEG abnormality, Shawl scrotum, Ataxia, Decreased s... ORPHA:456312
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
2-3 toe syndactyly, Failure to thrive in infancy, Sandal gap, Decreased nerve conduction velocity... ORPHA:477817
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Small for gestational age, Stereotypical hand wringing, EEG with multifocal slow activity, Diffus... ORPHA:289266
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Abnormal pyramidal sign, Spastic tetraplegia, Cryptorchidism, Decreased motor nerve conduction ve... OMIM:615419
Parkinson Disease, Late-Onset
Parkinsonism, Short stepped shuffling gait, Resting tremor, Dystonia, Bradykinesia, Abnormal auto... OMIM:168600
Spinocerebellar Ataxia, X-Linked 4
Abnormal pyramidal sign, Ataxia, Tremor OMIM:301840
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Ataxia, Spasticity, Oculomotor apraxia, Tremor OMIM:612716
Amyloidosis, Hereditary, Transthyretin-Related
Abnormal autonomic nervous system physiology, Ataxia, Peripheral axonal neuropathy, Impotence, Sp... OMIM:105210
Dentatorubral Pallidoluysian Atrophy
Dysmetria, Action tremor, Choreoathetosis, Blepharospasm, Optic neuropathy, Involuntary movements... ORPHA:101
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Tremor ORPHA:397744
Familial Dyskinesia And Facial Myokymia
Dystonia, Resting tremor, Limb hypertonia, Chorea, Difficulty walking, Myoclonus ORPHA:324588
Kufor-Rakeb Syndrome
Hypertonia, Parkinsonism, Dystonia, Bradykinesia, Spastic paraplegia, Akinesia, Ataxia, Parapares... OMIM:606693
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Tetraparesis, Abnormal pyramidal sign, Action tremor, Opisthotonus, Dystonia, Frequent falls, Ina... OMIM:607483
Brain Dopamine-Serotonin Vesicular Transport Disease
Spastic tetraparesis, Hypertonia, Dystonia, Dysdiadochokinesis, Shuffling gait, Oculogyric crisis... ORPHA:352649
Severe Neurodegenerative Syndrome With Lipodystrophy
Tetraparesis, Cerebral atrophy, Abnormal pyramidal sign, Caudate atrophy, Ataxia, Limb dystonia, ... ORPHA:363400
Metachromatic Leukodystrophy
Incoordination, Frequent falls, Dystonia, Decerebrate rigidity, Ataxia, Tip-toe gait, Decreased n... ORPHA:512
Urocanase Deficiency
Ataxia, Tremor OMIM:276880
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination, Cerebral atrophy, Brain atrophy ORPHA:85179
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Brachydactyly, Cerebellar vermis atrophy, Cryptorchidism, Sandal gap, Micropenis, Decreased testi... OMIM:300354
Trichohepatoenteric Syndrome 1
Thrombocytosis, Hypermethioninemia, Abnormality of iron homeostasis, Hypoalbuminemia, Increased s... OMIM:222470
Galactosemia
Decreased fertility, Action tremor, Dystonia, Primary amenorrhea, Cryptorchidism, Ataxia, Speech ... ORPHA:352
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Apraxia, Bradykinesia, Gait ataxia, Truncal ataxia, Rigidity, S... OMIM:137440
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Generalized cerebral atrophy/hypoplasia, Bradykinesia, Ataxia, EEG with spike-wav... ORPHA:36387
Cockayne Syndrome Type 1
Cryptorchidism, Lower limb spasticity, Ataxia, Failure to thrive, Male hypogonadism, Gait disturb... ORPHA:90321
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Poor coordination, Recurrent hand flapping, Gait disturbance, Postaxial polydactyly, Hypo... ORPHA:544254
D-Glyceric Aciduria
Opisthotonus, Spastic tetraplegia, Failure to thrive, Cerebral cortical atrophy, Delayed myelinat... OMIM:220120
Lathosterolosis
Schistocytosis, Hepatosplenomegaly, Acanthocytosis, Hyperbilirubinemia, Anisopoikilocytosis, Abno... OMIM:607330
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Single transverse palmar crease, Motor stereotypy, Micropenis, Decreased testicular size, Overwei... ORPHA:457240
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Cryptorchidism, Truncal obesity, Spasticity, Increased body mass index... OMIM:300957
Developmental And Epileptic Encephalopathy 4
Cerebral atrophy, Spastic tetraplegia, Spastic paraplegia, Hypsarrhythmia, EEG with burst suppres... OMIM:612164
Thrombocytopenia 1
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume OMIM:313900
Friedreich Ataxia
Decreased amplitude of sensory action potentials, Ataxia, Decreased sensory nerve conduction velo... OMIM:229300
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Delayed myelination, CNS hypomyelination, Exaggerated startle response OMIM:618367
Microcephaly 10, Primary, Autosomal Recessive
Cerebral atrophy, Cerebellar atrophy, CNS hypomyelination, Small for gestational age, Spasticity,... OMIM:615095
Congenital Disorder Of Glycosylation, Type Ie
EEG abnormality, Short palm, Pontocerebellar atrophy, Upper limb undergrowth, Ataxia, Failure to ... OMIM:608799
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cryptorchidism, Tremor, Cerebral cortical atrophy, Gait disturbance, Hypertonia ORPHA:1192
Developmental And Epileptic Encephalopathy 64