Gene: Mtmr2 MGI:1924366

Gene Summary

Name:

myotubularin related protein 2

Synonyms:

6030445P13Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased startle reflex	Mtmr2^{em1(IMPC)Hmgu}	HOM	Early adult	3.92×10^-06
decreased circulating alkaline phosphatase level	Mtmr2^{em1(IMPC)Hmgu}	HOM	Early adult	1.13×10^-06
increased mean platelet volume	Mtmr2^{em1(IMPC)Hmgu}	HOM	Early adult	3.91×10^-06

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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.

Human diseases associated with Mtmr2 (1 diseases)
Human diseases predicted to be associated with Mtmr2 (686 diseases)

The table below shows human diseases associated to Mtmr2 by orthology or direct annotation.

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

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

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

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