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Gene: Mtmr2 MGI:1924366

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Gene Summary

Name:
myotubularin related protein 2
Synonyms:
6030445P13Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased mean platelet volume Mtmr2em1(IMPC)Hmgu HOM   Early adult 3.91×10-06
decreased startle reflex Mtmr2em1(IMPC)Hmgu HOM Early adult 3.92×10-06
decreased circulating alkaline phosphatase level Mtmr2em1(IMPC)Hmgu HOM Early adult 2.62×10-05
increased blood urea nitrogen level Mtmr2em1(IMPC)Hmgu HOM   Early adult 4.23×10-05

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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
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... 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, Type 4A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:214400
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:302800
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration, H... OMIM:614436
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Spastic paraplegia, Optic atrophy, Babinski sign, Abnormal myelination, Spasti... ORPHA:431329
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy OMIM:311050
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Axonal loss, Gait... OMIM:611228
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Hand muscle atrophy, Decreased number of peripheral my... ORPHA:98856
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Failure to thrive in infancy, Decreased nerve conduction velocity, Areflexia of upper limbs, Decr... ORPHA:90103
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Symme... ORPHA:206594
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... OMIM:601596
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Thenar muscle atrophy, Decreased compound muscle action potential amplitude, Babinski sign, Diffi... OMIM:619112
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118210
Chronic Inflammatory Demyelinating Polyneuropathy
Hand muscle weakness, Decreased nerve conduction velocity, Segmental peripheral demyelination/rem... ORPHA:2932
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Abnormal myelination, Spastic gait, Progressiv... ORPHA:401840
Episodic Ataxia, Type 1
Incoordination, Abnormality of the hand, Tremor, Babinski sign, Slurred speech, Episodic ataxia, ... OMIM:160120
Leukodystrophy, Hypomyelinating, 18
Cerebellar atrophy, Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity... OMIM:618404
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:180800
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:615490
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Claw hand deformity, Upper limb amyotrophy, Steppage g... OMIM:606595
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Null Syndrome
Ataxia, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Inability to wa... ORPHA:280234
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypergonadotropic hypo... OMIM:604168
Bleeding Disorder, Platelet-Type, 16
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Waddling gait, Small hypothenar eminence, Decreased nu... OMIM:609311
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Hand muscle weakness, Tr... ORPHA:101077
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... OMIM:601098
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Babinski sign, Abnormal ... OMIM:600361
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Tremor, Distal upper limb amyotrophy, Gait disturbance, Abnormal nerve conduction velocity ORPHA:101075
Autosomal Recessive Spastic Paraplegia Type 21
Abnormal pyramidal sign, Frontotemporal cerebral atrophy, Gait disturbance, Abnormality of extrap... ORPHA:101001
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Distal upper limb amyotrophy, Abnormality of the upp... ORPHA:65684
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Intrinsic hand muscle atrophy... ORPHA:276435
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... OMIM:614561
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Tetraplegia, Hand tr... OMIM:604484
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... OMIM:602433
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Hand muscle weakness, Axonal regeneration, Difficulty ... OMIM:608323
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Charcot-Marie-Tooth Disease Type 4A
Limited interphalangeal movement, Frequent falls, Hand muscle weakness, Decreased nerve conductio... ORPHA:99948
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Hammertoe, Steppage gait... OMIM:610100
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Proximal muscle weakness in upper limbs, Hand muscle weakness, De... ORPHA:101097
Autosomal Recessive Spastic Paraplegia Type 67
Lower limb spasticity, Babinski sign, Limb tremor, Cerebral cortical atrophy, Difficulty walking,... ORPHA:401820
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Decreased num... OMIM:607706
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Atrophy... OMIM:619862
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Claw hand deformity, Paralysis, Decreased number of la... OMIM:605285
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Cryptorchidism, Inability to walk, Optic atrophy, Cerebral a... ORPHA:457205
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Decreased nerve conduction veloci... ORPHA:99939
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia... ORPHA:98890
X-Linked Charcot-Marie-Tooth Disease Type 6
Thenar muscle atrophy, Decreased nerve conduction velocity, Hand tremor, Steppage gait, Difficult... ORPHA:352675
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Decreased compound muscle action potential amplitude, Babinski sign, Hand tremor, Hammertoe, Step... OMIM:618279
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Postural tremor, Abnormal motor nerve conduction velocity, Hand muscle weakn... ORPHA:100998
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Postural tremor, Unsteady gait, Babinski sign, Intrins... ORPHA:3115
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Dystonia, Ataxia, Decreased number of large p... OMIM:208920
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607734
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:600882
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:614895
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Hand muscle atrophy, Decreased distal sensory nerve ac... OMIM:607684
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Hammertoe, Steppage gait, Decreased number of large pe... OMIM:615376
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal nerve conduction velocity ORPHA:99014
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal degeneration, Segmental... OMIM:606482
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Difficulty... OMIM:613608
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Thenar muscle atrophy, Tremor, Thenar muscle weakness,... OMIM:118300
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Clonus, Axonal degeneration, Falls, Tongue fasciculations, Failure to thrive OMIM:618811
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Diffuse cerebral atrophy, Rigidity, De... OMIM:619279
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:605588
Intellectual Developmental Disorder, Autosomal Recessive 4
Delayed myelination OMIM:611107
Pelizaeus-Merzbacher disease
Abnormal CNS myelination, Leukodystrophy DECIPHER:38
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity, Hammertoe, Difficulty walking, Thenar muscle atrophy OMIM:620111
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Areflexia of upper limbs, Axonal degeneration, Steppage gait, Gait disturbance, Talipes equinovarus OMIM:616155
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity, Thenar muscle atrophy, Thenar muscle weakness, Unsteady... ORPHA:139536
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls OMIM:615945
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Spasticity OMIM:611105
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Ataxia, Tremor, Gait disturbance ORPHA:101078
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Triceps weakness, Fasciculations, Difficulty walking, ... OMIM:615575
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Proximal muscle weakness in upper limbs, Decreased nerve conduction velocity, Axon... OMIM:618138
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Cerebellar vermis atrophy OMIM:617018
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Waddling gait, Hammertoe, Compound muscle action potential amplitude facilitation, Decreased comp... OMIM:616040
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased distal sensory... ORPHA:99953
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Postural tremor, Inability to walk, Split hand, Unstea... ORPHA:99950
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly, Decreased nerve conduction velocity, Gait disturbance, Brain atrophy, Loss of ambulat... OMIM:615284
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Spinocerebellar Ataxia 38
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degene... OMIM:615957
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Broad-based gait,... ORPHA:435387
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Dystonia, Ataxia, Facial palsy, Demyelinating motor ne... OMIM:608804
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Spastic tetraparesis, Decreased nerve conduction velocity, Babinski sign, Gait ataxia, Loss of am... OMIM:249900
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:604563
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Postural tremor, Chorea, Atrophy/Degeneration affecting the brainstem, Optic ... ORPHA:98755
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,... OMIM:601068
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... OMIM:608673
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination, Gait disturbance, Hand muscle atrophy ORPHA:99944
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Hypertonia, Ataxia, Tremor ORPHA:1368
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:145900
Spinocerebellar Ataxia Type 38
Tremor, Cerebellar atrophy, Difficulty walking, Gait ataxia ORPHA:423296
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Steppage gait, Vestibular schwannoma OMIM:613641
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... OMIM:155100
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hand... OMIM:162500
Autosomal Recessive Spastic Paraplegia Type 70
Hand tremor, Abnormal myelination ORPHA:401835
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls ORPHA:494526
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Axonal degeneration/rege... OMIM:218000
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... OMIM:601382
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Decreased motor nerve conduction velocity, Distal upper limb muscle weakness, Difficulty walking,... OMIM:618912
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Camptodactyly of finger, Micromelia, Decreased nerve conduction ... ORPHA:2928
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen OMIM:620085
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity, Sensory axonal neuropathy ORPHA:309169
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Ataxia, Tremo... OMIM:618387
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Peripheral axonal neuropathy, Decreased distal sensory nerve action potential, Hammertoe, Gait di... OMIM:618400
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Cerebellar atrophy, Gait ataxia ORPHA:217012
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Acute demyelinating polyneuropathy, Gait disturbance, ... ORPHA:101081
Stxbp1-Related Encephalopathy
Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Delayed myelination, Spa... ORPHA:599373
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Hypogonadism... OMIM:615768
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased motor nerve conduction velocity, Cerebellar atrophy, Decreased number of peripheral mye... OMIM:607250
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Dystonia 23
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... OMIM:614860
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Elbow flexion contracture, Bradykinesia, Subcortical cere... ORPHA:306692
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:618184
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Dy... OMIM:612674
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Absent brainstem auditory responses, Hand muscle weakness, Demyelinating mot... ORPHA:101085
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Delayed CNS myelination, Parkinsonism, Rigidity, Babinski sign, Slurred speec... OMIM:300423
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Clonus, Spastic paraplegia, Babinski sign, Gait distur... ORPHA:139578
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Segmental peripheral demyelination/remy... OMIM:601455
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Truncal titubation, Babinski sign, Abnormal pyramidal ... OMIM:610532
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturbance, Myoclonus, Truncal ataxia... ORPHA:363710
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Tremor, EEG with generalized epileptiform discharges, Myoclonus OMIM:616187
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral hypomyelination, Abno... OMIM:605253
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Abn... OMIM:607317
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Small for gestational age, Camptodactyly of finger, Decreased ner... OMIM:604320
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity, Lower limb spasticity, Postural tremor, Thenar muscle ... OMIM:270685
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Axonal degeneration, Gait ataxia, Abnormal sensory nerve conduction v... ORPHA:88628
Spinocerebellar Ataxia 23
Cerebellar atrophy, Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, CNS demyelination... OMIM:610245
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Claw hand deformity, Decreased compound muscle action ... OMIM:605726
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Hyperextensibility of the finger joints, Ataxia, Decreased nerve conduction v... OMIM:618356
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Decreased nerve co... ORPHA:206443
Primary Lateral Sclerosis, Juvenile
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... OMIM:606353
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal... ORPHA:98762
Krabbe Disease
Diffuse cerebral atrophy, Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, Hy... OMIM:245200
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia, Palmoplantar hyperkeratosis OMIM:309560
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity, F... OMIM:616494
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... OMIM:231200
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Hypogonadotropic hypogonadism, Camptodactyly of finger, Abnormal pyramidal sign, Dysmetri... ORPHA:48431
Autosomal Recessive Spastic Paraplegia Type 69
Lower limb spasticity, Hand tremor, Spastic dysarthria, Abnormal myelination, Cerebral cortical a... ORPHA:401830
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Epilepsy, Familial Adult Myoclonic, 4
EEG with polyspike wave complexes, Jerk-locked premyoclonus spikes, Tremor, Myoclonus, Enhancemen... OMIM:615127
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Sensory axonal neuropathy OMIM:612437
Spinal Muscular Atrophy, Jokela Type
Tremor, Hammertoe, Fasciculations, Difficulty walking OMIM:615048
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Inability to walk, Abnormality of the seventh cranial nerve, Limb fasciculations, Abnorma... ORPHA:90117
Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome
Peripheral axonal neuropathy, Hypogonadotropic hypogonadism, Inability to walk, Abnormal finger m... ORPHA:2560
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia... OMIM:607458
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... OMIM:617672
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Progressive truncal ataxia, Swan neck-like deformities... OMIM:270550
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination, Dystonia OMIM:250850
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Steppage gait OMIM:302801
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Abnormal peripheral myelination, Testicul... ORPHA:168563
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Choreoathetosis, Leukodystrophy, Dystonia OMIM:614932
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Steppage gait OMIM:607678
Developmental And Epileptic Encephalopathy 58
Inability to walk, Delayed myelination, Optic atrophy, Spastic diplegia, Hypsarrhythmia OMIM:617830
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... ORPHA:101110
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, Axonal degeneration, Diaphragmatic paralysis, Talipes equinovarus, ... OMIM:620011
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Focal dystonia, C... ORPHA:216873
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Loss of ambulation, Ataxia, Limb trem... OMIM:614877
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function OMIM:165300
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Babinski sign, Unsteady gait, Dy... OMIM:159550
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Clonus, Decreased nerve conduction velocity, Poor coordination, Abnormal pyramidal sign, Spastic ... OMIM:238970
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Torticollis, Hypergonadotropic hypogonadism, Azoosperm... OMIM:613724
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Central nervous system degeneration, Diaphragmatic paralysis ORPHA:868
Myh9-Related Disease
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ce... ORPHA:521406
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Intrinsic han... OMIM:620068
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination OMIM:608236
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Cerebral atrophy, Leukodyst... OMIM:617916
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... OMIM:615362
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Incoordination, Ataxia, Split hand, Abnormal pyramidal... OMIM:616688
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Delayed myelin... OMIM:616756
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Upper motor neuron dysfunction OMIM:612577
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Hypsarrhythmia OMIM:619561
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... OMIM:611302
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... OMIM:256731
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607831
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Ataxia, Tremor, Rigidity, Gait disturbance, Decreased ... OMIM:603472
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Ataxia, Cerebral cortical atrophy ORPHA:1188
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal ... OMIM:603516
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di... ORPHA:314632
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor fun... OMIM:302500
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Areflexia of upper limbs, Limb ataxia, Dysmetria, Gait ataxia, Dysdia... OMIM:616291
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Tetraparesis, Myoclonus, Dystonia, Spa... OMIM:615924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Interictal EEG abnormality, Ataxia, Increased neuronal autofluorescent lipopi... ORPHA:79263
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Delayed CNS myelination, Optic neuropathy, Axonal degeneration, Optic atrophy... OMIM:616811
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Paraparesis, Steppage gait OMIM:302802
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Delayed myelination, Poor coordination, Axonal degeneration, Neurodegeneration,... ORPHA:478029
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Hammertoe, Di... OMIM:616687
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Facial palsy, Abnormal motor nerve conduction velocity, Diaphragmatic pa... OMIM:614399
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ab... OMIM:256600
Intellectual Developmental Disorder, X-Linked 104
Delayed CNS myelination, Ataxia, Tremor, Optic atrophy, Spasticity, Cerebral cortical atrophy OMIM:300983
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... ORPHA:397946
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Hand muscle weakness, Tremor, Tongue tremor, Hypertonia, Proxima... ORPHA:466768
Spinocerebellar Ataxia 12
Axial dystonia, Cerebellar atrophy, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... OMIM:604326
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Hammertoe OMIM:613287
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Postural tremor, Tremor, Babinski sign... OMIM:607694
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Broad-based gait, Ataxia, Tremor, Small hand, Truncal ataxia, Dysmetria, Gait... OMIM:610185
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Optic... ORPHA:330050
Friedreich Ataxia
Decreased motor nerve conduction velocity, Hand muscle atrophy, Inability to walk, Chorea, Babins... ORPHA:95
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... ORPHA:423275
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Lower limb spasticity, Involuntary movements, Decreased nerve conduction veloc... ORPHA:565624
De Sanctis-Cacchione Syndrome
Ataxia, Bilateral cryptorchidism, Babinski sign, Scissor gait, Optic atrophy, Axonal degeneration... OMIM:278800
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti... ORPHA:442835
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Adrenomyeloneuropathy
Peripheral axonal degeneration, Abnormal libido, Cerebral dysmyelination, Atrophy/Degeneration in... ORPHA:139399
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Spastic tetrap... OMIM:250100
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Abnormal CNS myelination, Difficulty... ORPHA:477673
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Clasp-knife sign, Optic neuropathy,... ORPHA:101076
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Hypergonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysm... OMIM:617145
Cednik Syndrome
Ataxia, Diffuse palmoplantar hyperkeratosis, Optic atrophy, Hypogonadism, Abnormality of peripher... ORPHA:66631
Combined Oxidative Phosphorylation Defect Type 13
Decreased nerve conduction velocity, Delayed myelination, Choreoathetosis, Lower limb hypertonia,... ORPHA:319514
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Dysmyelinating leukodyst... OMIM:612319
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... ORPHA:314978
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Hemiatrophy, Brain... ORPHA:306669
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... OMIM:618093
Spastic Paraparesis And Deafness
Tremor, Hypogonadism, Spastic paraparesis OMIM:312910
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... OMIM:153670
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sig... OMIM:620158
Autosomal Recessive Spastic Paraplegia Type 46
Cerebellar atrophy, Lower limb spasticity, Broad-based gait, Peripheral axonal neuropathy, Ataxia... ORPHA:320391
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Leukodystrophy, Dys... OMIM:612438
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Delayed CNS myelination, Ataxia, Hypospadias, Head titubation, Babinski sign, Optic atrophy, Dysm... OMIM:618688
Cerebrotendinous Xanthomatosis
Abnormal tibia morphology, Axonal degeneration, Abnormal finger morphology, Abnormal femur morpho... ORPHA:909
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Optic atrophy, Babinski sign, Dysmetria, Gait ... OMIM:210000
Cln5 Disease
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Atrophy/D... ORPHA:228360
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity, Thenar muscle atrophy OMIM:614751
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, EEG abnorma... OMIM:617810
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Tremor, Obesity, Limb dystonia, Bilateral coxa valga OMIM:620270
Pelizaeus-Merzbacher Disease
Writer's cramp, Tremor, Sudanophilic leukodystrophy, Abnormal pyramidal sign, Choreoathetosis, In... OMIM:312080
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Dystonic gait, Abno... ORPHA:280219
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:162400
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Peripheral dysmyelination ORPHA:101082
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di... ORPHA:98764
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Small hand, Abnormal pyramidal sign, ... OMIM:617435
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Brachial plexus neuropathy, Axonal degeneration OMIM:162100
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Lower limb spasticity, Peripheral axonal neuropathy, C... OMIM:256840
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Peripheral axonal neuropathy, Ataxia OMIM:619099
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Parkinsonism, Decreased nerve conduction velocity, Tremor, Intrinsic hand muscl... ORPHA:329478
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Orthostatic hypotension, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism w... OMIM:616710
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia, Clumsiness, Progr... ORPHA:309256
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation, EEG with spike-wave complexes OMIM:614018
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Calcaneovalgus deformity... ORPHA:93952
Folinic Acid-Responsive Seizures
Cerebellar atrophy, Broad-based gait, Ataxia, Spastic tetraparesis, Delayed myelination, Chorea, ... ORPHA:79097
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cerebellar ... ORPHA:98763
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Subcortical cerebral atrophy, Hypertonia, Cerebral corti... ORPHA:33445
Spastic Paraplegia 78, Autosomal Recessive
Cerebellar atrophy, Resting tremor, Peripheral axonal neuropathy, Ataxia, Parkinsonism, Babinski ... OMIM:617225
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Spastic tetraparesis, Tremor, Elbow flexion contracture, Optic atrophy OMIM:619470
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Tremor, Dysmyelinating leukodys... ORPHA:137898
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involuntary movements, Or... ORPHA:454887
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... OMIM:600363
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Tremor, Schistocytosis, Elevated circulating creatinine concentration, Microangi... OMIM:274150
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude, Weak grip, Distal upper limb muscle weaknes... OMIM:619519
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co... OMIM:607876
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Inability to walk, Small hand, Tremor OMIM:616269
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... OMIM:164500
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... ORPHA:251282
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... OMIM:613845
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Mitochondrial Complex I Deficiency, Nuclear Type 19
Cerebellar atrophy, Rigidity, Inability to walk, Delayed myelination, Optic atrophy, Athetosis, G... OMIM:618241
Hereditary Methemoglobinemia
Cerebellar atrophy, Small for gestational age, Delayed myelination, Spastic tetraplegia, Temporal... ORPHA:621
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Wild Type Abeta2M Amyloidosis
Decreased nerve conduction velocity, Tetraplegia, Axonal loss, Tetraparesis, Abnormality of the t... ORPHA:85446
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Peripheral axonal degeneration, Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spas... OMIM:615157
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Spastic tetraparesis, Unsteady gait, Op... ORPHA:35069
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Peripheral axonal neuropathy OMIM:608895
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Babinski sign, Optic atrophy, Vestibular areflexia, Dysmetria, Gait ataxia, Progressive cerebella... ORPHA:504476
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with polyspike wave complexes, Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia, EEG wi... OMIM:618587
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki... OMIM:300894
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Tremor, Optic atrophy, Abnormal pyrami... OMIM:614381
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Spasticity, C... OMIM:213200
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Cerebral atrophy, Tongue... OMIM:619851
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Clumsiness, Progressive gait a... ORPHA:309263
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Waddling gait, Facial palsy, Decreased compound muscle action potential amplitude, Shoulder girdl... OMIM:603511
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl... OMIM:619028
Spinocerebellar Ataxia With Epilepsy
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... ORPHA:254881
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Talipes cavus equinovarus, Abnormal pyramidal sign, Progressive cereb... ORPHA:139485
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
4H Leukodystrophy
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Tremor, Optic atrophy, Dysmetria, Prog... ORPHA:289494
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Facial palsy, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Difficulty walk... OMIM:159950
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Failure to thrive, Ataxia OMIM:618951
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Small hand, Spastic tetrap... OMIM:300055
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia, Small for gestational age OMIM:278780
Acromicric Dysplasia
Short metacarpal, Decreased nerve conduction velocity, Small hand, Abnormal femur morphology, Sho... ORPHA:969
Hsd10 Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Frontotemporal cerebral atrophy, Gait d... ORPHA:391417
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy... ORPHA:71517
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Br... ORPHA:329284
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia... OMIM:614575
Optic Atrophy 11
Delayed CNS myelination, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, EEG with fo... OMIM:617302
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Cerebellar atrophy, Cachexia, Babinski sign, 2-3 toe s... OMIM:618186
Myoclonic-Atonic Epilepsy
Tremor, Delayed CNS myelination, Ataxia, Eyelid myoclonus OMIM:616421
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Failure to thrive, Myoclonus, Dystonia OMIM:619651
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Metachromatic Leukodystrophy, Adult Form
Dystonia, Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Clumsiness, ... ORPHA:309271
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Delayed CNS myelination, Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head tituba... OMIM:618877
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Abnormal lower motor neuron morphology, Tremor, Inability to walk, Clumsiness, Eye... ORPHA:2590
Riboflavin Transporter Deficiency
Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Hypogonadism, Abnormal autonomic nervo... ORPHA:97229
Inherited Creutzfeldt-Jakob Disease
Tremor, Chorea, Abnormal pyramidal sign, EEG with persistent abnormal rhythmic activity, Gait ata... ORPHA:282166
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Hypertrophic nerve changes DECIPHER:29
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Ina... ORPHA:52368
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Scapular winging, Generalized dystoni... OMIM:614298
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, EEG abnormality, Dystonia OMIM:612126
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Focal EEG discharges with ... ORPHA:3077
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers, Autoamputation of digits, Decreased nerve... OMIM:201300
Atypical Rett Syndrome
Dystonia, Involuntary movements, Tremor, Inability to walk, Small hand, Limb myoclonus, Gait atax... ORPHA:3095
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, EEG abnormality, Ataxia, Gait ataxia OMIM:617831
Yuan-Harel-Lupski Syndrome
Broad-based gait, Sandal gap, Decreased nerve conduction velocity, Unsteady gait, Gait ataxia, Cl... OMIM:616652
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Chorea, Optic atroph... ORPHA:401768
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr... ORPHA:240094
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, EEG abnormality, Dystonia OMIM:617836
Developmental And Epileptic Encephalopathy 4
Delayed CNS myelination, Tremor, EEG with burst suppression, Spastic paraplegia, Spastic tetraple... OMIM:612164
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... ORPHA:227510
Progressive Supranuclear Palsy-Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Limb apraxia, Involuntary movements, Tremor, Rigidi... ORPHA:240103
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus, Interictal epileptiform activity OMIM:615400
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Decreased motor nerve conduction velocity, Cerebellar atrophy, Babinski sign, Cerebral atrophy, G... OMIM:616192
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait a... OMIM:614831
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tapered finger, Tremor, Babinski sign, ... OMIM:616505
Aicardi-Goutieres Syndrome 6
Rigidity, Tremor, Leukodystrophy, Dystonia, Loss of ambulation OMIM:615010
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:98933
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Limb ataxia, Gait ataxia, Talipes equinovarus, Spasticity, Frequent falls, Cerebellar ver... OMIM:616719
Malignant Migrating Focal Seizures Of Infancy
Precocious puberty, Inability to walk, Delayed myelination, Multifocal epileptiform discharges, C... ORPHA:293181
Sialidosis Type 1
Ataxia, Decreased nerve conduction velocity, Tremor, Slurred speech, EEG abnormality, Gait distur... ORPHA:812
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... OMIM:609136
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Chronic axonal neuropathy, Cerebellar atrophy, Periphe... OMIM:606002
Spinal Muscular Atrophy, X-Linked 2
Hypospadias, Facial palsy, Cryptorchidism, Decreased compound muscle action potential amplitude, ... OMIM:301830
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... OMIM:619738
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babi... OMIM:617013
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus, EEG with spike-wave complexes (2.5-3.5 Hz) OMIM:616366
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Unsteady gait, Distal upper l... ORPHA:600
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia, Abnormality of peripheral nerve conduction ORPHA:101005
Spinocerebellar Ataxia 42
Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babin... OMIM:616795
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Cerebral atrophy OMIM:619405
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Cerebral atrophy OMIM:618637
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Rigidity, Babinski sign, Optic atrophy, Hand tremor, Bradykinesia, Gait d... ORPHA:289560
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Multifocal Motor Neuropathy
Weakness of long finger extensor muscles, Motor conduction block, Limited wrist extension, Fascic... ORPHA:641
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Optic disc pallor, Chorea, Babinski sign, Optic atroph... OMIM:164400
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... ORPHA:99949
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... ORPHA:420492
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... ORPHA:99750
Posterior Column Ataxia With Retinitis Pigmentosa
Flexion contracture of finger, Decreased sensory nerve conduction velocity, Ataxia, Broad-based g... OMIM:609033
Charcot-Marie-Tooth Disease Type 1E
Hand muscle atrophy, Hand muscle weakness, Decreased nerve conduction velocity, Inability to walk... ORPHA:90658
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Inab... OMIM:128100
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Poor motor coordination, Tremor, Dysmetria,... ORPHA:1170
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240085
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Difficulty wa... ORPHA:529665
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Difficulty walking, ... ORPHA:280210
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Ataxia, Cachexia ORPHA:1933
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, At... ORPHA:99027
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... ORPHA:247234
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Arachnodactyly, Ataxia, Tremor, Gait ataxia, Hypertonia, Myoclonus, Brain atrophy, Cl... OMIM:619092
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Hypogonadotropic hypogon... ORPHA:298
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Premature ovarian insufficiency, Po... OMIM:300623
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Delayed CNS myelination, Ataxia, Tremor, Inability to walk, Hypertonia, Failure to thrive OMIM:619556
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... ORPHA:363654
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system p... OMIM:168600
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... OMIM:261640
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Ataxia, Severe demyelination of the white matter, Opti... ORPHA:1187
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Unsteady gait, Peripheral hypomyelination, Talipes equinovar... OMIM:618733
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Diffuse cerebral atrophy, ... ORPHA:206436
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Generalized cerebral ... ORPHA:36387
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Hand mu... ORPHA:99956
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Choreoathetosis, Dystonia, Clinodactyly of the 5... OMIM:619422
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Developmental And Epileptic Encephalopathy 46
Tremor, Cerebral atrophy, Hypsarrhythmia, Failure to thrive, Limb hypertonia OMIM:617162
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, Inability to walk, EEG abnormality, Brain atrophy, Spasticity OMIM:618718
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity, Camptodactyly of finger ORPHA:2926
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Developmental And Epileptic Encephalopathy 42
Ataxia, Tremor, Athetosis, EEG abnormality, Hypertonia OMIM:617106
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Cerebellar atrophy, Small scrotum, Cryptorchidism, Ina... OMIM:615663
Xeroderma Pigmentosum, Complementation Group B
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Abnormal CNS myel... OMIM:610651
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... OMIM:619911
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance, Dystonia, Spasticity ORPHA:542310
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Facial palsy, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Parapa... OMIM:607483
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... ORPHA:274
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Steppage gait, Vocal... OMIM:601152
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Delayed CNS myelination, Diffuse cerebral atrophy, Ataxia, Tremor, Optic atro... OMIM:617710
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus OMIM:612016
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Sandal gap, Failure to ... ORPHA:477817
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Axial dystonia, Failure to thrive in infancy, Spastic ... OMIM:619026
Alpha-Methylacyl-Coa Racemase Deficiency
Hypergonadotropic hypogonadism, Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weigh... OMIM:137440
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Tremor, Cryptorchidism, Truncal obesity, Hy... OMIM:300957
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Delayed CNS myelination, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradyki... OMIM:619725
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Dysmetria, Gait ataxia, Choreoathet... ORPHA:101
Trichohepatoenteric Syndrome 1
Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemia, Hypermethion... OMIM:222470
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
Lathosterolosis
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... OMIM:607330
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Failure to thrive, Ulnar deviation of the 3rd finger, ... ORPHA:456312
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia OMIM:614867
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Autosomal Recessive Spastic Paraplegia Type 55
Lower limb spasticity, Optic neuropathy, Babinski sign, Optic atrophy, Poor fine motor coordinati... ORPHA:320375
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop... ORPHA:363400
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Diffuse cerebral atrophy, Small for gestational age, EEG with multifocal slow activity, Hypertoni... ORPHA:289266
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Optic atrophy, Dysmetria, G... OMIM:617988
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Giant platelets, Anemia OMIM:611209
Hereditary Sensory And Autonomic Neuropathy Type 1
Inability to walk, Steppage gait, Gait imbalance, Abnormality of the autonomic nervous system, Mo... ORPHA:36386
Spinocerebellar Ataxia 2
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Babinski sign... OMIM:183090
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Sandal gap, Tremor, Cryptorchidism, Small hand, Gait ataxia, Short foot, Abdominal o... OMIM:300354
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Abnormal pyramidal sign ORPHA:93476
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Abnormal autonomic ner... OMIM:616840
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Cryptorchidism, Hypertonia, Gait disturbance, Cerebral cortical atrophy ORPHA:1192
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Brain atrophy, Cerebral atrophy, Abnormal myelination ORPHA:85179
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Vocal cord paralysis, Tremor ORPHA:397744
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Cryptorchidism, Optic atrophy, Abnormal pyramidal sign... OMIM:615419
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Corpus callosum atrophy, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar par... OMIM:616586
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Lower limb spasticity, Ataxia, Tremor, Cryptorchidism, Optic... ORPHA:90321
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Metaphyseal chondrodysplasia, Enlargement of the wrists, Babinski sign, Spastic paraplegi... ORPHA:83629
Congenital Disorder Of Glycosylation, Type Ie
Short palm, Ataxia, Tremor, Small hand, Optic atrophy, Upper limb undergrowth, EEG abnormality, P... OMIM:608799
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc... OMIM:618060
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Caribbean Parkinsonism
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... ORPHA:97355
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Tremor, Cerebral atrophy, Choreoathetosis, Myoclonus, Dystonia, Episod... OMIM:312170
Metachromatic Leukodystrophy
Incoordination, Ataxia, Decreased nerve conduction velocity, Tremor, Tip-toe gait, Gait disturban... ORPHA:512
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Single transverse palmar crease, Tremor, Overweight, Hyperkinetic movements, Gait disturbance, Up... ORPHA:457240
Leukoencephalopathy With Ataxia
Action tremor, Limb ataxia, Optic neuropathy, Gait ataxia OMIM:615651
Spinocerebellar Ataxia Type 42
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Unsteady gait, Babinski sign, Gai... ORPHA:458803
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys... ORPHA:70594
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dystonia, Spasticity OMIM:617664
Myasthenic Syndrome, Congenital, 25, Presynaptic
Decreased compound muscle action potential amplitude OMIM:618323
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Myopathy With Extrapyramidal Signs
Peripheral axonal neuropathy, Ataxia, Clonus, Tremor, Chorea, Optic atrophy, Clumsiness, Choreoat... OMIM:615673
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsar... ORPHA:485421
Friedreich Ataxia
Ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gait ataxia, Decreased sensory nerve conductio... OMIM:229300
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Delayed myelination, Optic atrophy, Gait at... ORPHA:543470
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Hypospadias, Postaxial polydactyly, Tremor, Poor coordination, Gait disturbance ORPHA:544254
Peroxisome Biogenesis Disorder 4B
Ataxia, Single transverse palmar crease, Decreased nerve conduction velocity, Optic atrophy, Gait... OMIM:614863
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... OMIM:168605
Ataxia-Telangiectasia
Failure to thrive, Ataxia, Tremor, Polycystic ovaries, Gait disturbance, Spasticity, Abnormal tes... ORPHA:100
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... ORPHA:240071
Syndromic Diarrhea
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeo... ORPHA:84064
Thrombocytopenia 1
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia OMIM:313900
Cockayne Syndrome A
Cerebellar atrophy, Failure to thrive, Ataxia, Abnormal peripheral myelination, Abnormal auditory... OMIM:216400
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia, Neuronal loss in c... ORPHA:683
Tay-Sachs Disease
Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Precocious p... ORPHA:845
Hyperphenylalaninemia, Bh4-Deficient, B
Rigidity, Tremor, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia OMIM:233910
Amyloidosis, Hereditary, Transthyretin-Related
Peripheral axonal neuropathy, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, H... OMIM:105210
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Areflexia of upper limbs, Tremor, Intrinsic hand muscle atrophy, Impaired tandem gait, Polyminimy... OMIM:619574
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus... OMIM:168601
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Imp... OMIM:146500
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Speech apraxia, Cerebellar atrophy, Dystonia, Ataxia, Tremor, Inability to walk, C... OMIM:615356
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Syndactyly, EEG with focal spike waves, Ataxia, Tremor, Unstea... ORPHA:1942
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen OMIM:223360
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen ORPHA:230
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Osteolytic defects of the middle phalanx of the 4th toe, Abnormal... ORPHA:765
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, CNS hypomyelinat... OMIM:618527
Chediak-Higashi Syndrome
Ataxia, Decreased nerve conduction velocity, Tremor, Gait disturbance, Neurodegeneration OMIM:214500
Cockayne Syndrome B
Failure to thrive, Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, ... OMIM:133540
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Hand muscle weakness, Decr... OMIM:606070
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Toe syndactyly, Sandal gap, Camptodactyly of finger, Broad-based gait, Cache... ORPHA:85293
Japanese Encephalitis
Decreased motor nerve conduction velocity, Dystonia, Weakness due to upper motor neuron dysfuncti... ORPHA:79139
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Small thenar eminence, Decreased compound muscle action potential amplitude, Cl... OMIM:620080
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Diffuse cerebral atrophy, Dystonia, EEG with spike-wave complexes, Precocious... ORPHA:1934
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Decreased... OMIM:617718
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Scheie Syndrome
Abnormal nerve conduction velocity, Cerebral palsy, Spastic paraparesis ORPHA:93474
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Ataxia, EEG with abnormally slow frequencies, Tremor, Delayed myelination, Obes... ORPHA:98794
Cystathioninuria
Tremor, Talipes equinovarus ORPHA:212
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Abnormal myelination ORPHA:352682
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ata... OMIM:618056
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, EEG with burst suppression, Small for gestational age OMIM:615368
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Young-Onset Parkinson Disease
Tremor, Rigidity, Spasticity, Bradykinesia, Male sexual dysfunction, Abnormal autonomic nervous s... ORPHA:2828
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss ORPHA:178509
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Testicular atrophy, Decreased fertility, Fasciculations OMIM:313200
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... OMIM:602481
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Shuffling gait, Dyst... ORPHA:411602
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Optic atrophy, A... OMIM:234200
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... OMIM:187900
Cockayne Syndrome
Progressive gait ataxia, Hypertonia, Intention tremor, Ataxia, Cerebral dysmyelination, Cryptorch... ORPHA:191
Saccharopinuria
Tremor, Spastic diplegia, Gait ataxia ORPHA:3124
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Poliomyelitis
Abnormal motor nerve conduction velocity, Paralysis, Inability to walk, Paraparesis, Hyperkinetic... ORPHA:2912
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Chorea, Axonal loss, Athetosis, EEG abnormality, Myoclonus, Acromesomelia, Oculomotor apraxia, Ce... ORPHA:404454
Xeroderma Pigmentosum, Complementation Group F
Tremor, Ataxia, Brain atrophy, Decreased body weight OMIM:278760
Congenital Disorder Of Deglycosylation 1
Delayed CNS myelination, Single transverse palmar crease, Involuntary movements, Delayed myelinat... OMIM:615273
Wolfram Syndrome 1
Ataxia, Tremor, Optic atrophy, Limited mobility of proximal interphalangeal joint, Cerebral atrop... OMIM:222300
Asparagine Synthetase Deficiency
Exaggerated startle response, Caudate atrophy, Optic nerve hypoplasia, Clonus, Tremor, EEG with b... OMIM:615574
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Ddost-Cdg
Tremor, Failure to thrive, Oromotor apraxia, CNS hypomyelination ORPHA:300536
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Granu... OMIM:601104
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Choreoacanthocytosis
Caudate atrophy, Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Decre... ORPHA:2388
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Babinski sign, Abnormal pyramida... ORPHA:79138
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive... ORPHA:49041
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Tremor, Cranial nerve compression, Vocal cord paralysis, Weight l... ORPHA:94080
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Kallmann Syndrome
Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, ... ORPHA:478
Gm1 Gangliosidosis
Generalized dystonia, Ataxia, Camptodactyly of finger, Dystonia, Tremor, Unsteady gait, Optic atr... ORPHA:354
O'Sullivan-Mcleod Syndrome
Hand muscle weakness, Tremor, Atrophy of the spinal cord, Intrinsic hand muscle atrophy, Fascicul... ORPHA:99965
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, EEG with focal spike waves, Sandal gap, Ataxia, Tremor, Inability to walk,... OMIM:619229
Chédiak-Higashi Syndrome
Cerebellar atrophy, Ataxia, Parkinsonism, Decreased nerve conduction velocity, Inability to walk,... ORPHA:167
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Cerebral dysmyelination, Decreased nerve conduction velocity, Corpus callosum... OMIM:261515
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Incoordination, Ataxia, Single transverse palmar crease, Tremor, Unsteady gait... OMIM:614947
Angelman Syndrome
Optic disc pallor, Broad-based gait, Ataxia, Precocious puberty in females, Cerebral dysmyelinati... ORPHA:72
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Optic atrophy, Cerebral atrophy, Head ... ORPHA:314404
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity, Autoamputation of digits, Distal upper limb muscle wea... OMIM:613640
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Primary amenorrhea, Dysmetria, Limb ataxia, Dysdiadochokinesis... OMIM:617675
Hurler Syndrome
Cerebral palsy, Camptodactyly of finger, Abnormality of the elbow, Abnormal pyramidal sign, Abnor... ORPHA:93473
Chromosome 18Q Deletion Syndrome
Broad-based gait, Toe syndactyly, Hypospadias, Rocker bottom foot, Proximal placement of thumb, O... OMIM:601808
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Fasciculations, Brain a... OMIM:620327
Cockayne Syndrome Type 3
Optic disc pallor, Peripheral axonal neuropathy, Unsteady gait, Abnormality of peripheral nerve c... ORPHA:90324
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Diffuse cerebral atrophy, Hypergonadotropic hypogonadism, Ataxia, Tremor, Myo... OMIM:607426
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Wilson Disease
Dystonia, Poor motor coordination, Decreased nerve conduction velocity, Tremor, Rigidity, Hand tr... OMIM:277900
Multiple Sulfatase Deficiency
Broad hallux phalanx, Optic atrophy, Broad thumb, Abnormality of peripheral nerve conduction ORPHA:585
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Decreased distal sensory nerve acti... OMIM:606071
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, Chorea, Lim... ORPHA:48818
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Ataxia, Tremor, Delayed myelination, Spastic tetraplegia, Dysmetria, Cerebral... ORPHA:572798
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Rhizomelia, Ataxia, Tremor, Brachioradialis areflexia, Cerebral atrophy, Opis... OMIM:616271
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dystonia, Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesi... ORPHA:309854
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Ataxia-Telangiectasia
Female hypogonadism, Ataxia, Tremor, Inability to walk, Slurred speech, Abnormal spermatogenesis,... OMIM:208900
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic... ORPHA:79102
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Bowing of the long bones, Ataxia, Metaphyseal sclerosis, Tremor, Optic atrophy, Abnormal pyramida... OMIM:612199
Alexander Disease
Ataxia, Facial palsy, Clonus, Precocious puberty, Tremor, Chorea, Abnormal pyramidal sign, Tetrap... ORPHA:58
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Tremor, Primary amenorrhea, Dysmetria, Progressive cerebellar ataxia, Dysdiado... ORPHA:502423
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Tetanus
Tremor, Rigidity, Opisthotonus, Hypertonia, Abnormal autonomic nervous system physiology, Autonom... ORPHA:3299
Joubert Syndrome
Aganglionic megacolon, Ataxia, Tremor, Hand polydactyly, Gait disturbance, Foot polydactyly, Ocul... ORPHA:475
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Corpus callosum atrophy, Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Lowe... ORPHA:447753
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Ataxia, Bilateral cryptorchidism, Tremor, Central Y-shaped met... ORPHA:2754
Niemann-Pick Disease Type C
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Leukodystrophy, Limb dystonia, ... ORPHA:646
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Gabriele-De Vries Syndrome
Hallux valgus, Waddling gait, Delayed CNS myelination, Sandal gap, Tremor, Cryptorchidism, Long f... OMIM:617557
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Ataxia, Tremor, Hand polydactyly, Gait disturbance, Oculomotor apraxia ORPHA:220497
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Resting tremor, Failure to thrive, Peripheral axonal neuropathy, Ataxia, Faci... ORPHA:254892
Stiff-Person Syndrome
Exaggerated startle response, Anemia, Opisthotonus OMIM:184850
Triosephosphate Isomerase Deficiency
Optic disc pallor, Tremor, Unsteady gait, Cerebral atrophy, Dystonia, Spasticity, Failure to thrive OMIM:615512
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Dpagt1-Cdg
Arachnodactyly, Ataxia, Akinesia, Tremor, Inability to walk, Optic atrophy, CNS hypomyelination, ... ORPHA:86309
Glutaryl-Coa Dehydrogenase Deficiency
Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athet... ORPHA:25
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Ataxia, Tremor, Hypogonadism, Failure to thrive, Decreased testicular size OMIM:201100
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... ORPHA:276621
Alternating Hemiplegia Of Childhood
Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign, Choreoathetosis, ... ORPHA:2131
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypospadias, Ataxia, Small for gestational age, Tremor, Cryptorchidism, Neonatal death, Failure t... OMIM:614052
Monosomy 18Q
Arachnodactyly, Abnormal palmar dermatoglyphics, Tapered finger, Bilateral cryptorchidism, Poor c... ORPHA:1600
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Weight loss, Periodic paralysis OMIM:613239
Kanzaki Disease
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy OMIM:609242
Hyperlysinemia
Neck hypertonia, Poor motor coordination, Spastic tetraparesis, EEG with spike-wave complexes, Tr... ORPHA:2203
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Delayed CNS myelination, Tremor, Babinski sign, 2-3 toe syndactyly, Hypertonia, Brain atrophy, Sp... OMIM:616539
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Benign Schwannoma
Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Abnorm... ORPHA:252164
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination, Talipes equinovarus, Camptodactyly OMIM:617333
Friedreich Ataxia 2
Incoordination, Ataxia, Babinski sign, Hammertoe, Abnormality of peripheral nerve conduction OMIM:601992
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Tyrosinemia Type 2
Tremor, Palmoplantar keratoderma, Ataxia ORPHA:28378
Aicardi-Goutières Syndrome
Extrapyramidal muscular rigidity, Dystonia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal si... ORPHA:51
Sandhoff Disease, Infantile Form
Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Oculopharyngodistal Myopathy 1
Ataxia, Facial palsy, Tremor, Weight loss, Difficulty walking, Brain atrophy OMIM:164310
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Elevated circulating creatine kinase concentration OMIM:253800
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Goodpasture Syndrome
Anemia, Increased blood urea nitrogen OMIM:233450
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Sandhoff Disease
Exaggerated startle response, Hepatosplenomegaly OMIM:268800
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination ORPHA:67045
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Mucopolysaccharidosis Type 2
Decreased nerve conduction velocity, Papilledema, Optic atrophy ORPHA:580
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Exaggerated startle response, Dystonia ORPHA:79255
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Hypermobile Ehlers-Danlos Syndrome
Abnormality of the menstrual cycle, Decreased nerve conduction velocity, Elbow dislocation, Cysto... ORPHA:285
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Hereditary Sensory And Autonomic Neuropathy Type 4
Abnormality of the autonomic nervous system, Difficulty walking, Abnormality of peripheral nerve ... ORPHA:642
Degcags Syndrome
Syndactyly, Toe syndactyly, Hypospadias, Small for gestational age, Cryptorchidism, Short thumb, ... OMIM:619488
Orofaciodigital Syndrome Type 14
Broad hallux, Deviation of the hallux, Bilateral cryptorchidism, Epispadias, Postaxial hand polyd... ORPHA:434179
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anemia, Exaggerated startle response, Decreased serum iron, Dystonia ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

Histopathology

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

There is no histopathology data for Mtmr2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mtmr2.

No publications found that use IMPC mice or data for Mtmr2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Mtmr2tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mtmr2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Mtmr2em1(IMPC)Hmgu Exon Deletion Mice
Mtmr2tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells

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