Gene Summary

Name:
sacsin
Synonyms:
E130115J16Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
small uterus Sacsem1(IMPC)Tcp HOM Early adult 0.00
preweaning lethality, complete penetrance Sacsem1(IMPC)Tcp HOM Early adult 0.00
abnormal kidney morphology Sacsem1(IMPC)Tcp HET Early adult 0.00
preweaning lethality, incomplete penetrance Sacsem1(IMPC)Tcp HOM   Early adult 0.00
abnormal sternum morphology Sacsem1(IMPC)Tcp HOM Early adult 0.00
abnormal spleen morphology Sacsem1(IMPC)Tcp HOM Early adult 0.00
abnormal skin morphology Sacsem1(IMPC)Tcp HET Early adult 0.00
increased mean corpuscular volume Sacsem1(IMPC)Tcp HOM   Early adult 6.55×10-05
increased mean corpuscular volume Sacsem1(IMPC)Tcp HET Early adult 1.89×10-08

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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.

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

Histopathology

Images

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

Gross Pathology and Tissue Collection

Images

12 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

Immunophenotyping

Panel B FCS file(s)

9 Images

Immunophenotyping

Panel A FCS file(s)

9 Images

Human diseases caused by Sacs 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 Sacs by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Abnormal pyramidal sign, Abnormal cerebellar peduncle morphology, Parietal cortical atrophy, Dysm... ORPHA:98
Spastic Ataxia, Charlevoix-Saguenay Type
Onion bulb formation, Decreased motor nerve conduction velocity, Progressive truncal ataxia, Prog... OMIM:270550

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Charcot-Marie-Tooth Disease, Axonal, Type 2V
Distal sensory impairment, Paresthesia, Sensory ataxia OMIM:616491
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Diffuse axonal swelling, Clonus, Babinski sign, Pallor of dorsal ... OMIM:602433
Spinal Muscular Atrophy, Type Iv
Proximal amyotrophy, Proximal muscle weakness, Hand tremor, Tongue fasciculations, Spinal muscula... OMIM:271150
Spinal Muscular Atrophy, Type Iii
Proximal muscle weakness, Skeletal muscle atrophy, Limb fasciculations, Hand tremor, Muscle weakn... OMIM:253400
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Proximal amyotrophy, Proximal muscle weakness, Gait disturbance, Hand tremor, Axonal degeneration... OMIM:604484
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration/re... OMIM:614436
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Babinski sign, Skeletal muscle atrophy, Limb muscle weak... OMIM:613954
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Proximal amyotrophy, Motor axonal neuropathy, Axonal d... ORPHA:98856
Amyotrophic Lateral Sclerosis 5, Juvenile
Babinski sign, Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis, F... OMIM:602099
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration, Paraparesis... OMIM:302800
Spinal Muscular Atrophy, Type Ii
Skeletal muscle atrophy, Hand tremor, Muscle weakness, Tongue fasciculations, Spinal muscular atr... OMIM:253550
Monomelic Amyotrophy
Distal upper limb amyotrophy, Fasciculations, Tremor, Muscle weakness, Abnormality of peripheral ... ORPHA:65684
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Vocal cord paralysis, Facial palsy, Abnormal lower motor neuron morphology,... OMIM:607641
Posterior Column Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation OMIM:176250
Pontocerebellar Hypoplasia, Type 1A
Hypoplasia of the ventral pons, Hypoplasia of the pons, Congenital contracture, Fasciculations, A... OMIM:607596
Amyotrophic Lateral Sclerosis 16, Juvenile
Limb muscle weakness, Amyotrophic lateral sclerosis, Muscle weakness, Abnormal lower motor neuron... OMIM:614373
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Gowers sign, Proximal muscle weakness, Frequent falls, Progressive distal muscular atrophy, Respi... OMIM:159950
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Proximal amyotrophy, Gait disturbance, Neuronal loss in central nervous system, Amyotrophic later... OMIM:608030
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Babinski sign, Dystonia, Cerebellar atrophy, Skeletal muscle atrophy, Dysmetria, Neurodegeneratio... OMIM:615157
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy, Gait imbalance, Spastic gait, Spastic dysarthria, Spastic tetraparesis, ... ORPHA:247604
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Proximal muscle weakness, Pelvic girdle muscle weakness, Myopathy, Temporal cortical atrophy, Gai... OMIM:167320
Amyotrophic Lateral Sclerosis 2, Juvenile
Babinski sign, Dystonia, Upper limb spasticity, Spastic gait, Amyotrophic lateral sclerosis, Spas... OMIM:205100
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Distal amyotrophy, Spasticity, Distal muscle weakness OMIM:611895
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Muscle weakness, Bulbar p... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Muscle weakness, Bulbar p... OMIM:616437
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Muscle weakness, Amyotrophic lateral sclerosis, Fasciculations, Limb muscle weakness OMIM:619141
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Proximal muscle weakness, Gait disturbance, Steppage gait, Axonal degeneration, Distal sensory im... OMIM:616155
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired proprioception, Decreased motor nerve conduction velocity, Impaired temperature sensatio... DECIPHER:29
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Skeletal muscle atrophy, Pseudobulbar paralysis... OMIM:105400
Spinocerebellar Ataxia 43
Rigidity, Distal sensory impairment, Ataxia, Cerebellar vermis atrophy, Tremor, Distal amyotrophy... OMIM:617018
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Muscle weakness, Spasticity OMIM:614808
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Onion bulb formation, Peripheral axonal degeneration, Distal amyotrophy, Axonal degeneration, Dis... OMIM:606482
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Peripheral axonal neuropathy, Skeletal muscle atrophy, Tremor, Ataxia, Muscle weak... OMIM:611105
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Amyotro... OMIM:612069
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... OMIM:158600
Juvenile Amyotrophic Lateral Sclerosis
Oromandibular dystonia, Contractures of the joints of the upper limbs, Proximal muscle weakness, ... ORPHA:300605
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Gowers sign, Neck flexor weakness, Internally nucleated ... OMIM:618138
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Dystonia, Cerebellar atrophy, Progressive external ophthalmoplegi... OMIM:208920
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Upper motor neuron dysfunction OMIM:612577
Vocal Cord And Pharyngeal Distal Myopathy
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis, Abnormal morphol... ORPHA:600
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Gait disturbance, Ragged-red muscle fibers, EMG: myopath... ORPHA:276435
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, ... OMIM:105550
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Impaired proprioception, Myoclonus, Fasciculations, Progressive cerebellar ataxia, Truncal ataxia... ORPHA:95434
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Distal muscle weakness OMIM:205250
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... OMIM:601596
Amyotrophic Lateral Sclerosis 8
Postural tremor, Proximal muscle weakness, Skeletal muscle atrophy, Progressive muscle weakness, ... OMIM:608627
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Proximal muscle weakness, Scapuloperoneal amyotrophy, Respiratory insufficiency due to muscle wea... OMIM:611067
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Proximal muscle weakness, Babinski sign, Amyotrophic lateral sclerosis, Ataxia, Bulbar palsy, Par... OMIM:615911
Mitochondrial Dna Depletion Syndrome 18
Proximal muscle weakness, Clonus, Weakness of facial musculature, Distal amyotrophy, Axonal degen... OMIM:618811
Spinocerebellar Ataxia 18
Babinski sign, Cerebellar atrophy, Skeletal muscle atrophy, Limb muscle weakness, Dysmetria, Prog... OMIM:607458
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Paralysis, Amyotrophic lateral sclerosis, Muscle weakness, Bulbar palsy, Abnormal lower motor neu... OMIM:105500
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... OMIM:214400
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Peripheral axonal neuropathy, Distal amyotrophy, Dysmetria, Steppage gait, Di... OMIM:618387
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Tremor, Distal muscle weakness, Gait ataxia, Difficulty walking, Somatic sens... ORPHA:423296
Amyotrophic Lateral Sclerosis 19
Loss of ability to walk, Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sc... OMIM:615515
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Proximal muscle weakness, Abnormal motor neuron morphology, Cranial nerve compression, Motor axon... ORPHA:52430
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Amyotrophic Lateral Sclerosis 21
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis, Decreased nerve ... OMIM:606070
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Fasciculations, Distal sensory impairment, Muscle weakness, Tremor, Calf... OMIM:615048
Spinal Muscular Atrophy, Segmental
Segmental spinal muscular atrophy, Hand muscle atrophy, Abnormal anterior horn cell morphology OMIM:183020
Mitochondrial Myopathy With Diabetes
Proximal amyotrophy, Proximal muscle weakness, Ragged-red muscle fibers, Facial palsy, EMG: myopa... OMIM:500002
Nonaka Myopathy
Gait disturbance, EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-... OMIM:605820
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Steppage gait, Hand tremor, Hand muscle weakness, Somatic sensory dysfunction OMIM:300905
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Distal Myopathy, Welander Type
Clumsiness, Myopathy, Steppage gait, Distal upper limb amyotrophy, EMG: myopathic abnormalities, ... ORPHA:603
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Proximal muscle weakness, Gait disturbance, Z-band streaming, Autophagic vacuoles, Internally nuc... OMIM:618655
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Onion bulb formation, Decreased motor nerve conduction velocity, Optic atrophy, Babinski sign, Ax... OMIM:609260
Frontotemporal Dementia With Motor Neuron Disease
Proximal muscle weakness, Degeneration of the lateral corticospinal tracts, Babinski sign, Weakne... ORPHA:275872
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paralysis, Vocal cord paresis, Tremor, Distal amyotrophy, Distal muscle weakness, Diff... OMIM:158580
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased muscle mass, Peripheral axonal neuropathy, Vocal cord paralysis, Axonal degeneration, K... OMIM:615490
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Proximal muscle weakness in lower limbs, Gait disturba... ORPHA:101077
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Proximal muscle weakness, Babinski sign, Myopathy, Upper limb amyotrophy, Ragged-red muscle fiber... OMIM:616924
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Muscle weakness, Amyotrophic lateral sclerosis, Tongue fasciculations OMIM:613435
Coenzyme Q10 Deficiency, Primary, 4
Proximal muscle weakness, Cerebellar atrophy, Myoclonus, Increased intramyocellular lipid droplet... OMIM:612016
Myopathy, Myofibrillar, 5
Proximal muscle weakness, Muscle fiber cytoplasmatic inclusion bodies, Waddling gait, Abnormal pe... OMIM:609524
Hereditary Myopathy With Early Respiratory Failure
Necrotizing myopathy, Proximal muscle weakness, Gait disturbance, Muscle fiber hypertrophy, Neck ... ORPHA:178464
Gne Myopathy
Abnormal right hemidiaphragm morphology, Steppage gait, Lower limb amyotrophy, Hip flexor weaknes... ORPHA:602
Machado-Joseph Disease Type 3
Clumsiness, Progressive gait ataxia, Supranuclear ophthalmoplegia, Abnormal pyramidal sign, Degen... ORPHA:276244
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Spinocerebellar atrophy, Intention tremor, Ataxia, Spasticity, Distal amyotro... OMIM:215470
Infantile-Onset X-Linked Spinal Muscular Atrophy
Inflammatory myopathy, Proximal muscle weakness, Abnormal muscle fiber morphology, Interphalangea... ORPHA:1145
Primary Lateral Sclerosis, Adult, 1
Babinski sign, Spastic gait, Spastic dysarthria, Spastic tetraparesis, Abnormal upper motor neuro... OMIM:611637
Myopathy, Distal, With Rimmed Vacuoles
Z-band streaming, Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Steppage ... OMIM:617158
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Diaphragmatic paralysis, Peripheral axonal degeneration, Limb muscle weakness, Diaphragmatic weak... OMIM:604320
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Skeletal muscle atrophy, Tremor, Muscle weakness, Distal amyotrophy, Distal muscle weakness OMIM:614369
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Tremor, Impaired vibratory sensation, Spasticity, Gait ataxia ORPHA:217012
Myopathy, Spheroid Body
Proximal amyotrophy, Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Neck flexor wea... OMIM:182920
Finnish Upper Limb-Onset Distal Myopathy
Clumsiness, Weakness of the intrinsic hand muscles, Progressive distal muscle weakness, Steppage ... ORPHA:399086
Spinal Muscular Atrophy, X-Linked 2
Myopathy, Respiratory insufficiency due to muscle weakness, Facial palsy, Arthrogryposis multiple... OMIM:301830
Welander Distal Myopathy
Steppage gait, Distal muscle weakness, Rimmed vacuoles, Distal amyotrophy OMIM:604454
X-Linked Progressive Cerebellar Ataxia
Clumsiness, Babinski sign, Axonal loss, Frequent falls, Dysmetria, Spastic dysarthria, Progressiv... ORPHA:1175
Amyotrophic Lateral Sclerosis
Paralysis, Fatigable weakness of bulbar muscles, Motor neuron atrophy, Skeletal muscle atrophy, N... ORPHA:803
Optic Atrophy 2
Tremor, Optic atrophy, Dysdiadochokinesis, Babinski sign OMIM:311050
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Inclusion Body Myositis
Proximal muscle weakness, Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal mu... ORPHA:611
Striatonigral Degeneration, Infantile, Mitochondrial
Babinski sign, Ragged-red muscle fibers, Frequent falls, Paroxysmal choreoathetosis, Difficulty w... OMIM:500003
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Dystonia, Peripheral axonal neuropathy, Frequent falls, Distal amyotrophy, Myoclon... OMIM:607317
Proximal Myopathy With Extrapyramidal Signs
Involuntary movements, Optic atrophy, Proximal muscle weakness, Peripheral axonal neuropathy, Pro... ORPHA:401768
Episodic Ataxia With Slurred Speech
Tremor, Muscle weakness, Slurred speech, Gait ataxia ORPHA:401953
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... OMIM:616689
Behr Syndrome
Progressive spasticity, Optic atrophy, Babinski sign, Cerebellar atrophy, Gait disturbance, Dysme... OMIM:210000
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Proximal muscle weakness, Cerebellar atrophy, Hand muscle weakness, Paresthesia, E... ORPHA:254886
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Axonal degeneration/regeneration, Steppage gait, Distal sensory impairment, Distal amyotrophy, De... OMIM:607677
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Limb myoclonus, Frequent falls, Respiratory insufficiency due to muscle weakness, Myo... ORPHA:2590
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Steppage gait, Distal sensory impairment, Axonal regeneration, Distal amyotrophy, Decreased numbe... OMIM:607731
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral demyelination, Quadriceps muscle weakness, Proximal muscle weakness in upper limbs, Ch... ORPHA:101097
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Primary Lateral Sclerosis, Juvenile
Babinski sign, Spastic gait, Spastic dysarthria, Spasticity of facial muscles, Spasticity of phar... OMIM:606353
Tibial Muscular Dystrophy
Clumsiness, Proximal muscle weakness in lower limbs, Myopathy, Peroneal muscle atrophy, Increased... ORPHA:609
Alpha-B Crystallin-Related Late-Onset Myopathy
Progressive distal muscle weakness, Facial diplegia, Autophagic vacuoles, Respiratory insufficien... ORPHA:399058
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia OMIM:213000
Zebra Body Myopathy
Gowers sign, Proximal muscle weakness, Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopa... ORPHA:97240
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Paresthesia, Abnormality of the spinal cord, Quadriceps muscle weakness, Somatic sensory dysfunct... ORPHA:99947
Spinocerebellar Ataxia Type 35
Babinski sign, Cerebellar atrophy, Pseudobulbar paralysis, Dysmetria, Torticollis, Intention trem... ORPHA:276193
Autosomal Recessive Spastic Paraplegia Type 67
Babinski sign, Spastic gait, Limb tremor, Generalized amyotrophy, Lower limb spasticity, Aplasia/... ORPHA:401820
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Dystonia, Paralysis, Axonal loss, Amyotrophic lateral sclerosis OMIM:300857
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Proximal muscle weakness, Pelvic girdle muscle weakness, Autophagic vacuoles, Reduced maximal ins... ORPHA:266
Congenital Arthrogryposis With Anterior Horn Cell Disease
Dystonia, Peripheral axonal neuropathy, Skeletal muscle atrophy, Facial diplegia, Respiratory ins... OMIM:611890
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
Spinocerebellar Ataxia 35
Babinski sign, Cerebellar atrophy, Dysmetria, Torticollis, Intention tremor, Ataxia, Incoordinati... OMIM:613908
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Proximal muscle weakness, Falls, Muscle fiber necrosis, ... OMIM:618848
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb pos... ORPHA:98769
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Head titubation, Frequent falls, Dysmetria, Spastic ataxia, Fa... OMIM:611302
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Cerebellar atrophy, External ophthalmoplegia, Tremor, Truncal ataxia, Spasticity, ... OMIM:615768
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Cerebellar atrophy, Neurodegeneration, Tremor, Ataxia, Spasticity, Apraxia OMIM:615889
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Babinski sign, Chorea,... OMIM:604168
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Babinski sign, Cerebellar atrophy, Gait disturbance, Dystonia, Neurodegeneration, ... OMIM:614298
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Impaired proprioception, Gait disturbance, Abnormality of the spinal cord, Axonal degeneration, P... ORPHA:88628
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Degeneration of the lateral corticospinal tracts, Clonus, Spastic gait, Lower limb... OMIM:600363
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Proximal muscle weakness, External ophthalmoplegia, Weakness of facial musculature, Tremor, Ataxi... OMIM:618637
Myopathy, Distal, 1
Proximal muscle weakness, Toe extensor amyotrophy, Ragged-red muscle fibers, Gait disturbance, Fa... OMIM:160500
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:118210
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Type 2 muscle fiber predominance, Dysmetria, Myoclonus, Lower limb spasticity... OMIM:619028
Nemaline Myopathy 2
Generalized muscle weakness, Late-onset distal muscle weakness, Calf muscle pseudohypertrophy, Pr... OMIM:256030
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Generalized limb muscle atrophy, Spastic ataxia, Cerebral atrophy, Loss of ambulation... ORPHA:137898
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Gait imbalance, Paresthesia, Quadriceps muscle weakness, Proximal muscle weakness in upper limbs,... ORPHA:435387
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Gowers sign, Pelvic girdle muscle weakness, Neck flexor weakness, Facial palsy, Shoulder girdle m... OMIM:254110
Spinocerebellar Ataxia Type 37
Gait disturbance, Diffuse cerebellar atrophy, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria... ORPHA:363710
Autosomal Dominant Spastic Paraplegia Type 17
Postural tremor, Babinski sign, Hand muscle weakness, Spastic gait, Abnormality of the foot muscu... ORPHA:100998
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers, Myoclonus, Ataxia, Muscle weakness, Spasticity OMIM:545000
Roussy-Levy Hereditary Areflexic Dystasia
Onion bulb formation, Decreased motor nerve conduction velocity, Distal amyotrophy, Hypertrophic ... OMIM:180800
Spinocerebellar Ataxia Type 14
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Abnormalit... ORPHA:98763
X-Linked Charcot-Marie-Tooth Disease Type 6
Steppage gait, Hand tremor, Decreased nerve conduction velocity, Impaired vibration sensation in ... ORPHA:352675
Spastic Paraplegia Type 7
Optic atrophy, Babinski sign, Optic disc pallor, Cerebellar atrophy, Ragged-red muscle fibers, Sp... ORPHA:99013
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... OMIM:601954
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Proximal muscle weakness, Angulated muscle fibers, Weakness of facial musculature, Shoulder girdl... OMIM:619477
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Axonal loss, Cerebellar atrophy, Tongue fasciculations, Dysmetria, Tremor, Ataxia,... OMIM:618170
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Onion bulb formation, Decreased motor nerve conduction velocity, Proximal muscle weakness, Axonal... OMIM:605588
Oculopharyngodistal Myopathy 3
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... OMIM:619473
Hypermanganesemia With Dystonia 2
Babinski sign, Gait disturbance, Cerebellar atrophy, Dystonia, Oromandibular dystonia, Bradykines... OMIM:617013
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Skeletal muscle atrophy, Impaired pain sensation, Decreased nerve conduction ve... ORPHA:101078
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Tremo... OMIM:615362
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Babinski sign, Dystonia, Cerebellar atrophy, Scissor gait, Loss of ambulation, Oromandibular dyst... ORPHA:521406
Leukoencephalopathy With Dystonia And Motor Neuropathy
Head tremor, Torticollis, Abnormal motor neuron morphology, Intention tremor OMIM:613724
Nemaline Myopathy 7
Gowers sign, Gait disturbance, Minicore myopathy, Myofibrillar myopathy, Respiratory insufficienc... OMIM:610687
Polyglucosan Body Neuropathy, Adult Form
Gait disturbance, Peripheral axonal neuropathy, Paresthesia, Distal sensory impairment, Tetrapare... OMIM:263570
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Gait disturbance, Tremor, Diffuse cerebral atrophy, Spastic paraplegia OMIM:300660
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Gowers sign, Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed... OMIM:603511
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Cerebellar atrophy, Spasticity OMIM:616494
Spinocerebellar Ataxia Type 12
Postural tremor, Parkinsonism, Gait disturbance, Cerebellar atrophy, Tremor by anatomical site, B... ORPHA:98762
Spastic Paraplegia 30, Autosomal Dominant
Babinski sign, Peripheral axonal neuropathy, Cerebellar atrophy, Dysmetria, Spastic gait, Lower l... OMIM:610357
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Optic atrophy, Babinski sign, Cerebellar atrophy, Dystonia, Dysmetria, Ataxia, A... OMIM:607694
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Ankle flexion contracture, Peripheral axonal neuropathy, Distal sensory impairment, Tremor, Foot ... OMIM:616668
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait OMIM:617917
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Stereotypy, Tremor, Ataxia, Cer... OMIM:617862
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Spinocerebellar Ataxia 23
Babinski sign, Cerebellar atrophy, Dysmetria, Neuronal loss in central nervous system, Impaired v... OMIM:610245
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Symmetric peripheral demyelination, Peripheral demyeli... ORPHA:206594
Inclusion Body Myositis
Proximal muscle weakness, Distal muscle weakness, Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Idiopathic Camptocormia
Abnormal pons morphology, Dystonia, Myositis, Amyotrophic lateral sclerosis, EMG: myopathic abnor... ORPHA:1320
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Generalized amyotrophy, Muscle fiber necrosis, Proximal muscle weakness, Respiratory insufficienc... OMIM:258450
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... OMIM:604326
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Postural tremor, Clumsiness, Babinski sign, Skeletal m... ORPHA:3115
Nemaline Myopathy 4
Gowers sign, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Waddling gait, Diffi... OMIM:609285
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Proximal amyotrophy, Proximal muscle weakness, Myopathy, Gait disturbance, Scapular winging, Abdo... OMIM:618129
Dystonia 23
Gait disturbance, Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Hea... OMIM:614860
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Babinski sign, Dystonia, Spastic gait, Spastic dysarthria, Lower limb sp... ORPHA:251282
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration, Skeletal muscle atrophy, Muscle weakness OMIM:162100
Myopathy, Distal, 5
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting OMIM:617030
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Gowers sign, Myopathy, Proximal muscle weakness, Rimmed vacuoles, Muscle weakness, Waddling gait,... OMIM:612937
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Pelvic girdle muscle weakness, Myopathy, Proximal lower limb amyo... OMIM:609115
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Impaired proprioception, Babinski sign, Peripheral axonal neuropathy, Distal amyotrophy, Spastic ... ORPHA:352641
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus, Cerebellar atrophy OMIM:616187
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Peroneal muscle atrophy, Trophic limb changes, Axonal loss, Distal amyotrophy, Decreased nerve co... OMIM:118301
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Bulbar palsy, Limb muscle weakness OMIM:619133
Leukoencephalopathy, Brain Calcifications, And Cysts
Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... OMIM:614561
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Onion bulb formation, Axonal degeneration/regeneration, Distal amyotrophy, Steppage gait, Distal ... OMIM:606483
Myopathy, Myofibrillar, 3
Proximal muscle weakness, Progressive distal muscle weakness, Muscle fiber cytoplasmatic inclusio... OMIM:609200
Spastic Paralysis, Infantile-Onset Ascending
Babinski sign, Achilles tendon contracture, Spastic tetraplegia, Tetraplegia, Muscle weakness, Ab... OMIM:607225
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiparesis, Tremor, Ataxia, Hemiplegia OMIM:141500
Frontotemporal Dementia
Parkinsonism, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:600274
Myopathy, Proximal, With Ophthalmoplegia
Proximal muscle weakness, Myopathy, Congenital contracture, Generalized muscle weakness, Neck mus... OMIM:605637
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, External ophthalmoplegia, EMG: myopathic abnormalities, Rimmed va... OMIM:618940
Merrf
Ataxia, Myopathy, Ragged-red muscle fibers, Optic atrophy ORPHA:551
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Impaired pain sensation, Distal upper limb amyotrophy, Tremor, Ataxia, Distal l... ORPHA:101075
Myopathy, Distal, 3
Clumsiness, Steppage gait, Late-onset proximal muscle weakness, EMG: myopathic abnormalities, Rim... OMIM:610099
Spinocerebellar Ataxia Type 2
Postural tremor, Dystonia, Kinetic tremor, Abnormality of the spinocerebellar tracts, Chorea, Oph... ORPHA:98756
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Peripheral axonal neuropathy, Skeletal muscle atrophy, Dysmetria, Muscle weak... ORPHA:98771
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Generalized muscle w... ORPHA:34516
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Babinski sign, Gait disturbance, Cerebellar atrophy, Rigidity, Falls, Bradykinesia, Impaired tand... OMIM:300423
Congenital Muscular Dystrophy Without Intellectual Disability
Proximal amyotrophy, Cerebellar cyst, Cerebellar atrophy, Frequent falls, Facial diplegia, Achill... ORPHA:370980
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decre... OMIM:615234
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Proximal muscle weakness, Pelvic girdle muscle weakness, Neck flexor weakness, Frequent falls, Di... OMIM:603689
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Gowers sign, Ankle flexion contracture, Reduced muscle fiber alpha dystroglycan, Waddling gait, L... ORPHA:280333
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Proximal muscle weakness, Progressive external ophthalmoplegia, Peripheral axonal neuropathy, Rag... OMIM:617070
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Gait disturbance, Skeletal muscle hypertrophy, Impaired pain sensation, Paraparesi... ORPHA:99014
Spastic Paraplegia 9A, Autosomal Dominant
Babinski sign, Gait disturbance, Generalized amyotrophy, Lower limb spasticity, Impaired vibrator... OMIM:601162
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Motor axonal neuropathy, Joint contracture of the hand, Generalized muscle weakness, Atrophy of t... ORPHA:466768
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Tip-toe gait, Distal amyotro... OMIM:254130
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Proximal muscle weakness, Skeletal muscle atrophy, Rimmed vacuoles, Waddling gait, Calf muscle hy... OMIM:617760
Moderate Multiminicore Disease With Hand Involvement
Facial palsy, Generalized muscle weakness, Intrinsic hand muscle atrophy, Axial muscle weakness, ... ORPHA:178145
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Neck flexor weakness, Weakness... ORPHA:457050
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Peripheral axonal neuropathy, Distal amyotrophy OMIM:619099
Nemaline Myopathy 6
Gait disturbance, Myopathy, Neck flexor weakness, Limb muscle weakness, Nemaline bodies OMIM:609273
Myopathy, Myofibrillar, 2
Autophagic vacuoles, Respiratory insufficiency due to muscle weakness, Late-onset proximal muscle... OMIM:608810
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, In... ORPHA:101110
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Elbow flexion contracture, Shuffling gait, Bradykinesia, Subcortical cerebral atrophy, ... ORPHA:306692
Congenital Myasthenic Syndromes With Glycosylation Defect
Gowers sign, Proximal muscle weakness, Poor head control, Type 1 muscle fiber predominance, Myopa... ORPHA:353327
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Fatiguable weakness of proximal limb muscles, Limb fasciculations, Distal sensory impairment, Abn... ORPHA:90117
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Abnormal pyramidal sign, Abnormal cerebellar peduncle morphology, Parietal cortical atrophy, Dysm... ORPHA:98
Spinocerebellar Ataxia 29
Dysmetria, Intention tremor, Impaired tandem gait, Cerebellar vermis atrophy, Cerebellar vermis h... OMIM:117360
Myopathy, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Genera... OMIM:608358
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Cerebellar atrophy, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Combined Oxidative Phosphorylation Deficiency 6
Involuntary movements, Ragged-red muscle fibers, Skeletal muscle atrophy, Respiratory insufficien... OMIM:300816
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Gowers sign, Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Respiratory insuffi... OMIM:609560
Spastic Ataxia 5, Autosomal Recessive
Dystonia, Cerebellar atrophy, Skeletal muscle atrophy, Dysmetria, Myoclonus, Increased intramyoce... OMIM:614487
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Proximal muscle weakness, Weakness of facial musculature, Internally nucleated skeletal muscle fi... OMIM:618654
Charcot-Marie-Tooth Disease, Type 4J
Onion bulb formation, Decreased motor nerve conduction velocity, Distal arthrogryposis, Axonal lo... OMIM:611228
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention trem... ORPHA:284332
Autosomal Spastic Paraplegia Type 58
Torticollis, Peripheral demyelination, Spastic ataxia, Fasciculations, Cerebral atrophy, Abnormal... ORPHA:397946
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis OMIM:617839
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Autosomal Dominant Spastic Paraplegia Type 42
Babinski sign, Degeneration of the lateral corticospinal tracts, Clonus, Lower limb amyotrophy, S... ORPHA:171863
Charcot-Marie-Tooth Disease Type 4D
Postural tremor, Decreased motor nerve conduction velocity, Proximal muscle weakness, Upper limb ... ORPHA:99950
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Peripheral axonal neuropathy, Cerebellar atrophy, Falls, Bradykinesi... OMIM:617225
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Triceps weakness, First dorsal interossei muscle weakness, Impair... OMIM:619574
Elliptocytosis 3
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis OMIM:617948
Primary Lateral Sclerosis
Babinski sign, Weakness due to upper motor neuron dysfunction, Cervical spinal cord atrophy, Spas... ORPHA:35689
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Optic atrophy, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, A... OMIM:270500
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Atypical Juvenile Parkinsonism
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Leg muscle st... ORPHA:391411
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Spastic gait, Ataxia, Slurred speech, Type 1 muscle fiber predom... ORPHA:972
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Gait disturbance, Axonal loss, Caudate atrophy, Peripheral demyelination, Myoclonu... OMIM:221770
Adult-Onset Nemaline Myopathy
Myopathy, Increased muscle lipid content, Neck flexor weakness, Respiratory insufficiency due to ... ORPHA:171442
Spastic Paraplegia 39, Autosomal Recessive
Babinski sign, Gait disturbance, Cerebellar atrophy, Atrophy of the spinal cord, Ataxia, Distal a... OMIM:612020
Charcot-Marie-Tooth Disease Type 1F
Impaired proprioception, Paresthesia, Fasciculations, Proximal muscle weakness in upper limbs, So... ORPHA:101085
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Cerebellar atrophy, Action tremor, Intention tremor OMIM:302500
Spastic Paraplegia 46, Autosomal Recessive
Upper limb dysmetria, Babinski sign, Cerebellar atrophy, Knee clonus, Upper limb spasticity, Limb... OMIM:614409
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Neuronal loss in central nervous system, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetr... OMIM:615924
Myopathy, X-Linked, With Postural Muscle Atrophy
Proximal muscle weakness, Rimmed vacuoles, Scapuloperoneal weakness, Flexion contracture, Scapula... OMIM:300696
Myasthenic Syndrome, Congenital, 14
Gowers sign, Ragged-red muscle fibers, Fatigable weakness, Waddling gait, Flexion contracture, Sc... OMIM:616228
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Proximal muscle weakness, Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnormal mor... OMIM:615424
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Muscle weakness, Increased intramyocellular lipid droplets, Weakness of facial musculature OMIM:619062
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Muscular Dystrophy, Congenital, Merosin-Positive
Proximal muscle weakness, Myopathy, Respiratory insufficiency due to muscle weakness, Facial pals... OMIM:609456
Distal Myotilinopathy
Progressive distal muscle weakness, Abnormal muscle fiber myotilin, EMG: myopathic abnormalities,... ORPHA:98911
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Poor head control, Dystonia, Cerebellar atrophy, Myoclonic spasms, Increased neuronal... ORPHA:79263
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Hypoplasia of the pons, Hypoglycosylation of alpha-dystroglycan, Ataxia, Muscular dystrophy, Musc... OMIM:615350
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Gowers sign, Neck flexor weakness, Frequent falls, Macroglossia, Right ventricular hypertrophy, A... ORPHA:353
Nemaline Myopathy 3
Proximal muscle weakness, Neck flexor weakness, Rigidity, Limb muscle weakness, Frequent falls, R... OMIM:161800
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pelvic girdle muscle weakness, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn... OMIM:608423
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Hypomimic f... ORPHA:71517
Distal Myopathy, Tateyama Type
Clumsiness, Weakness of the intrinsic hand muscles, Progressive distal muscle weakness, Calf musc... ORPHA:488650
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... ORPHA:598
Bethlem Myopathy
Multiple joint contractures, Reduced maximal expiratory pressure, Generalized amyotrophy, Quadric... ORPHA:610
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Babinski sign, Peripheral axonal neuropathy, Cerebellar atrophy, Cerebellar gliosi... OMIM:616505
Spinocerebellar Ataxia 1
Impaired proprioception, Decreased motor nerve conduction velocity, Paresthesia, Dorsal column de... OMIM:164400
Childhood-Onset Nemaline Myopathy
Clumsiness, Generalized limb muscle atrophy, Fatigable weakness of bulbar muscles, Increased musc... ORPHA:171439
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Progressive external ophthalmoplegia, Facial palsy, EMG: myopathic abno... OMIM:609283
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Steppage gait, Facial palsy, Nemaline bodies, Distal s... OMIM:607684
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, U... OMIM:616948
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Rigidity, Subcortical cerebral atrophy, Tremor, Ataxia, Hypertonia, Spasticity, Ce... ORPHA:33445
Autosomal Dominant Cerebellar Ataxia
Impaired proprioception, Long-tract signs, Torticollis, Fasciculations, Paraparesis, Akinesia, To... ORPHA:99
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Distal sensory impairment, Distal amyotrophy, Upper limb muscle... OMIM:607791
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Cerebellar vermis hypoplasia, N... ORPHA:314978
Vacuolar Neuromyopathy
Neck flexor weakness, Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centr... OMIM:601846
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Myoclonus, Bradykinesia, Tr... ORPHA:314632
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait OMIM:616127
Spinocerebellar Ataxia Type 40
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... ORPHA:423275
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy, Generalized limb muscle atrophy, Paresthesia, Frequent falls, Intention tremor, Pr... ORPHA:466794
Central Core Disease Of Muscle
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... OMIM:117000
Adult-Onset Distal Myopathy Due To Vcp Mutation
Necrotizing myopathy, Weakness of the intrinsic hand muscles, Frequent falls, Facial diplegia, De... ORPHA:329478
Nemaline Myopathy 1
Proximal muscle weakness, Facial diplegia, Shoulder girdle muscle atrophy, EMG: myopathic abnorma... OMIM:609284
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Poor motor coordination, Dysmetria, Dilated fourth ventricle, Tremor, Ataxia,... ORPHA:1170
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Spinocerebellar Ataxia 40
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... OMIM:616053
Autosomal Recessive Spastic Paraplegia Type 15
Babinski sign, Gait disturbance, Peripheral axonal neuropathy, Upper limb spasticity, Pseudobulba... ORPHA:100996
Autosomal Recessive Spastic Paraplegia Type 26
Impaired vibration sensation at ankles, Babinski sign, Gait disturbance, Skeletal muscle atrophy,... ORPHA:101006
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Babinski sign, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, D... OMIM:252011
Neurodegeneration With Brain Iron Accumulation 6
Gait disturbance, Dystonia, Rigidity, Neurodegeneration, Oromandibular dystonia, Motor axonal neu... OMIM:615643
Motor Neuron Disease With Dementia And Ophthalmoplegia
Degeneration of anterior horn cells, Ophthalmoparesis, Ophthalmoplegia, Cerebral atrophy OMIM:600333
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Aplasia/Hypo... ORPHA:79262
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus OMIM:616921
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Proximal muscle weakness, Pelvic girdle muscle weakness, Frequent falls, Reduced muscle fiber mer... ORPHA:34515
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus ORPHA:494526
Neutral Lipid Storage Disease With Myopathy
Gowers sign, Proximal muscle weakness, Increased muscle lipid content, Myopathy, Fasciculations, ... OMIM:610717
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Poor head control, Ankle flexion contracture, Peripheral axonal neuropathy, Type 2 muscle fiber a... OMIM:617519
Dystonia, Dopa-Responsive
Postural tremor, Babinski sign, Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... OMIM:128230
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Proximal muscle weakness, Myopathy, Chorea, Muscle fiber atrophy, Muscular dystrophy, Waddling ga... ORPHA:369840
Mitochondrial Myopathy, Infantile, Transient
Increased muscle lipid content, Muscle fiber hypertrophy, Ragged-red muscle fibers, Macroglossia,... OMIM:500009
Congenital Muscular Dystrophy With Intellectual Disability
Multiple joint contractures, Poor gross motor coordination, Abnormal pons morphology, Skeletal mu... ORPHA:370968
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Proximal muscle weakness, Dystonia, Cerebellar atrophy, Myoclonus, Tremor, Progressive cerebellar... ORPHA:139485
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Muscle weakness, Increased variability in muscle fiber diameter, Distal amyotrop... OMIM:619042
Spinocerebellar Ataxia Type 1
Impaired proprioception, Optic atrophy, Postural tremor, Cerebellar atrophy, Skeletal muscle atro... ORPHA:98755
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... ORPHA:98870
Spinocerebellar Ataxia 2
Postural tremor, Rigidity, Distal amyotrophy, Dysmetria, Dilated fourth ventricle, Myoclonus, Bra... OMIM:183090
Adrenomyeloneuropathy
Peripheral axonal degeneration, Babinski sign, Atrophy/Degeneration involving the corticospinal t... ORPHA:139399
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Dysmetria, Global brain atrophy, Tremor, Aplasia of the inferior half of the ... OMIM:610185
Autosomal Recessive Spastic Paraplegia Type 46
Impaired vibration sensation at ankles, Babinski sign, Peripheral axonal neuropathy, Cerebellar a... ORPHA:320391
Nemaline Myopathy 5
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, P... OMIM:605355
Myopathy, Scapulohumeroperoneal
Skeletal muscle atrophy, Neck flexor weakness, Wrist drop, Progressive muscle weakness, Achilles ... OMIM:616852
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Gait disturbance, Cerebellar atrophy, Frequent falls, Dysmetria, Extrapyramidal mu... ORPHA:93952
Congenital Muscular Dystrophy, Ullrich Type
Abnormal muscle fiber morphology, Frequent falls, Diaphragmatic weakness, Torticollis, Generalize... ORPHA:75840
Myopathy, Centronuclear, 2
Gowers sign, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Facial p... OMIM:255200
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... OMIM:260300
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Dystonia, Cerebellar atrophy, Skeletal muscle atrophy, Tremor, Inability to walk, ... ORPHA:330050
Spinocerebellar Ataxia Type 27
Gait disturbance, Cerebellar atrophy, Hand tremor, Sensory axonal neuropathy, Tremor, Truncal ata... ORPHA:98764
Distal Myopathy With Anterior Tibial Onset
Weakness of the intrinsic hand muscles, Tibialis muscle weakness, Finger flexor weakness, Intrins... ORPHA:178400
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait disturbance, Dystonia, Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Dysdiadoch... OMIM:617145
Congenital Myopathy With Myasthenic-Like Onset
Proximal muscle weakness, Myopathy, Gait disturbance, Minicore myopathy, Respiratory insufficienc... ORPHA:424107
Amish Nemaline Myopathy
Proximal amyotrophy, Shoulder flexion contracture, Hip contracture, Progressive muscle weakness, ... ORPHA:98902
Spinocerebellar Ataxia 7
Optic atrophy, Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tr... OMIM:164500
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Ophthalmop... ORPHA:270
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Babinski sign, Gait disturbance, Skeletal muscle atrophy, Lower limb spasticity,... ORPHA:100988
Nemaline Myopathy 11, Autosomal Recessive
Gowers sign, Facial palsy, Waddling gait, Scapular winging, Nemaline bodies OMIM:617336
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Proximal muscle weakness, Progressive external ophthalmoplegia, Ragged-red muscle fibers, Impaire... OMIM:607459
Severe X-Linked Mitochondrial Encephalomyopathy
Involuntary movements, Skeletal muscle atrophy, Generalized muscle weakness, Sensory axonal neuro... ORPHA:238329
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Progressive external ophthalmoplegia, Ragged-red muscle fibers, Impaired distal proprioception, R... OMIM:157640
Distal Nebulin Myopathy
Ankle flexion contracture, Neck flexor weakness, Progressive distal muscle weakness, Weakness of ... ORPHA:399103
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gai... OMIM:613728
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dysmetria, Dilated fourth ventricle, Inferior vermis hypoplasia, Tremor, Atax... OMIM:614831
Spastic Paraplegia 79, Autosomal Recessive
Optic atrophy, Babinski sign, Cerebellar atrophy, Head titubation, Dysmetria, Neurodegeneration, ... OMIM:615491
Tubular Aggregate Myopathy
Fatiguable weakness of proximal limb muscles, Type 2 muscle fiber atrophy, Muscle fiber tubular i... ORPHA:2593
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Gowers sign, Proximal muscle weakness, Type 1 muscle fiber predominance, Myopathy, Triceps weakne... ORPHA:86812
Combined Oxidative Phosphorylation Defect Type 27
Involuntary movements, Ragged-red muscle fibers, Diffuse cerebellar atrophy, Tetraparesis, Diffus... ORPHA:477774
Cerebrotendinous Xanthomatosis
Long-tract signs, Global brain atrophy, Axonal degeneration, Paraparesis, Abnormal pyramidal sign... ORPHA:909
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Cerebellar atrophy, Rigidity, Neurodegeneration, Abnormality of extrapyramidal motor fu... OMIM:300894
Spinocerebellar Ataxia 19
Postural tremor, Cerebellar atrophy, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia,... OMIM:607346
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Waddling gait, Increased var... ORPHA:1878
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Shoulder girdle muscle atrophy, Gait disturbance, Shoulder girdle muscle weakness, Increased endo... ORPHA:437572
Developmental And Epileptic Encephalopathy 97
Tremor, Poor head control, Inability to walk, Stereotypical hand wringing OMIM:619561
Scapuloperoneal Spinal Muscular Atrophy
Peroneal muscle atrophy, Gowers sign, Scapuloperoneal amyotrophy, Scapular muscle atrophy, Progre... OMIM:181405
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Impaired proprioception, Decreased motor nerve conduction velocity, Pontocerebellar atrophy, Peri... OMIM:606002
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxi... ORPHA:284324
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Cerebellar hypoplasia, Unsteady gait, Limb... OMIM:213200
Marinesco-Sjogren Syndrome
Myopathy, Skeletal muscle atrophy, Progressive muscle weakness, Rimmed vacuoles, Ataxia, Spastici... OMIM:248800
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Babinski sign, Optic neuropathy, Optic disc pallor, Ha... ORPHA:101076
Myofibrillar Myopathy 11
Gowers sign, Proximal muscle weakness, Z-band streaming, Generalized amyotrophy, Shoulder girdle ... OMIM:619178
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Proximal muscle weakness, Ragged-red muscle fibers, Impaired distal proprioception, Myoclonus, Op... ORPHA:70595
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Abnormality of extrapyramidal motor function, Senile plaques, Abnormal... ORPHA:100070
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Proximal muscle weakness, Gait disturbance, Progressive external ophthalmoplegia, Ragged-red musc... OMIM:609286
Spinocerebellar Ataxia, Autosomal Recessive 21
Cerebellar atrophy, Frequent falls, Distal sensory impairment, Ataxia, Tremor, Spasticity, Gait a... OMIM:616719
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... ORPHA:98807
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Babinski sign, Dystonia, Myoclonus, Increased intramyocellular lipid droplets, Ataxia, Spastic di... OMIM:619065
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Tremor, Babinski sign, Sensory axonal neuropathy OMIM:612437
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Neurodegeneration, Cerebellar atrophy, Gait ataxia, Congenital diaphragmatic hernia ORPHA:438134
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Ankle flexion contracture, Muscle weakness, Muscular dystrophy, Increased endomysial connective t... OMIM:617072
Dpm3-Cdg
Babinski sign, Pelvic girdle muscle weakness, Rimmed vacuoles, Muscle weakness, Muscular dystroph... ORPHA:263494
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Parkinsonism, Dystonia, Cerebellar atrophy, Axonal loss, Rigidity, Chorea, Peripheral demyelinati... OMIM:617672
Spastic Paraplegia 7, Autosomal Recessive
Optic atrophy, Degeneration of the lateral corticospinal tracts, Cerebellar atrophy, Babinski sig... OMIM:607259
Riboflavin Transporter Deficiency
Optic disc pallor, Abnormal cranial nerve morphology, Skeletal muscle atrophy, Limb muscle weakne... ORPHA:97229
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Optic atrophy, Parkinsonism, Gait disturbance, Rigidity, Frequent falls, Chorea, Orom... ORPHA:216873
Parkinson Disease 2, Autosomal Recessive Juvenile
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Cerebral atrophy, Parkinsonism OMIM:600116
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Increased variability... OMIM:300717
Spinocerebellar Ataxia 42
Impaired vibration sensation at ankles, Babinski sign, Cerebellar atrophy, Spastic gait, Spastic ... OMIM:616795
Laing Early-Onset Distal Myopathy
Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle tissue, Toe extensor amy... ORPHA:59135
Glycogen Storage Disease Ixb
Muscle weakness, Increased muscle glycogen content OMIM:261750
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Impaired distal tactile sensa... OMIM:162400
O'Sullivan-Mcleod Syndrome
Hand muscle weakness, Cold paresis, Fasciculations, Atrophy of the spinal cord, Tremor, Intrinsic... ORPHA:99965
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Babinski sign, Progressive external ophthalmoplegia, Cerebellar atrophy, Skeletal muscle atrophy,... OMIM:616479
Neurodegeneration With Brain Iron Accumulation 3
Babinski sign, Dystonia, Rigidity, Choreoathetosis, Writer's cramp, Chorea, Neurodegeneration, Br... OMIM:606159
Spinocerebellar Ataxia Type 17
Involuntary movements, Parkinsonism, Gait disturbance, Cerebellar atrophy, Dystonia, Rigidity, Wr... ORPHA:98759
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Impaired proprioception, Babinski sign, Fiber type grouping, Distal lower limb amyotrophy, Impair... OMIM:500013
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Progressive external ophthalmoplegia, Skeletal muscle atrophy, Ataxia, ... ORPHA:480
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness, Decreased siz... OMIM:603034
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Proximal amyotrophy, Scapuloperoneal amyotrophy, Reduced muscle fiber alpha dystroglycan, Frontal... ORPHA:206559
Myopathy, Centronuclear, 1
Proximal muscle weakness, Skeletal muscle hypertrophy, External ophthalmoplegia, Facial palsy, EM... OMIM:160150
Spinocerebellar Ataxia 5
Cerebellar atrophy, Dysmetria, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis... OMIM:600224
Myopathy, Congenital Proximal, With Minicore Lesions
Proximal muscle weakness, Type 1 muscle fiber predominance, Minicore myopathy, Z-band streaming, ... OMIM:618823
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Proximal muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Increased variability... OMIM:253601
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Babinski sign, Cerebellar atrophy, Dysmetria, Achilles tendon contracture, Decreas... OMIM:612674
Tibial Muscular Dystrophy, Tardive
Steppage gait, Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles OMIM:600334
Spinocerebellar Ataxia 48
Babinski sign, Dystonia, Cerebellar atrophy, Dysmetria, Chorea, Tremor, Ataxia, Parkinsonism, Gai... OMIM:618093
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism ORPHA:401901
Caribbean Parkinsonism
Dystonia, Weakness due to upper motor neuron dysfunction, Rigidity, Myoclonus, Bradykinesia, Prog... ORPHA:97355
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Clumsiness, Babinski sign, Cerebellar atrophy, Ataxia, Impaired vibratory sensat... OMIM:609270
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Distal sensory impairment, Peripheral axonal degeneration, Decreased number of peripheral myelina... OMIM:608720
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Cerebellar atrophy, Dysmetria, Tremor, Inability to walk, Apraxia, Spasticity, Cer... OMIM:617810
Muscular Dystrophy, Limb-Girdle, Type 1H
Proximal muscle weakness, Shoulder girdle muscle atrophy, Muscular dystrophy, Muscle weakness, Ca... OMIM:613530
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Gowers sign, Type 2 muscle fiber atrophy, Respiratory insufficiency due to muscle weakness, Facia... OMIM:608930
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Muscle weakness, Increased vari... OMIM:613204
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Gowers sign, Ankle flexion contracture, Hypoglycosylation of alpha-dystroglycan, Muscular dystrop... OMIM:613818
Lopes-Maciel-Rodan Syndrome
Dystonia, Cerebellar atrophy, Caudate atrophy, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Sp... OMIM:617435
Autosomal Dominant Spastic Paraplegia Type 9B
Postural tremor, Babinski sign, Peripheral axonal neuropathy, Loss of ambulation, Spastic gait, S... ORPHA:447757
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Abnormal mitochondria in muscle tissue, Progressive external ophthalmoplegia, Ragged-red muscle f... ORPHA:663
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Friedreich Ataxia
Impaired proprioception, Decreased motor nerve conduction velocity, Optic atrophy, Babinski sign,... ORPHA:95
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Optic atrophy, Babinski sign, Cerebellar atrophy, Dystonia, External ophthalmoplegia, Dysmetria, ... OMIM:612319
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Type 2 muscle fiber atrophy, Decreased size of nerve terminals, Ophthalmoparesis, Fatigable weakn... OMIM:601462
Spinal muscular atrophy, type I, with congenital bone fractures
Decreased muscle mass, Generalized amyotrophy, Flexion contracture, Acute infantile spinal muscul... OMIM:271225
Diamond-Blackfan Anemia 6
Macrocytic anemia, Triphalangeal thumb, Increased mean corpuscular volume, Persistence of hemoglo... OMIM:612561
Spastic Ataxia, Charlevoix-Saguenay Type
Onion bulb formation, Decreased motor nerve conduction velocity, Progressive truncal ataxia, Prog... OMIM:270550
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... OMIM:616860
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Dystonia, Cerebellar atrophy, Rigidity, Choreoathetosis, Tremor, Ataxia, Spasticity OMIM:612438
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscle weakness, Muscular dystrophy OMIM:159050
Myopathy, Myofibrillar, 4
Progressive distal muscle weakness, Autophagic vacuoles, Progressive muscle weakness, EMG: myopat... OMIM:609452
Autosomal Dominant Spastic Paraplegia Type 9A
Babinski sign, Abnormality of the dorsal column of the spinal cord, Abnormality of pain sensation... ORPHA:447753
Ane Syndrome
Multiple joint contractures, Generalized amyotrophy, Motor neuron atrophy ORPHA:157954
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Muscle weakness OMIM:618951
Bethlem Myopathy 2
Proximal muscle weakness, Myopathy, Muscle weakness, Flexion contracture, Increased variability i... OMIM:616471
Hypokalemic Periodic Paralysis
Paralysis, Abnormal muscle fiber morphology, Late-onset proximal muscle weakness, Respiratory par... ORPHA:681
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Respiratory insufficiency due to muscle weakness, Congenital muscular dystrophy, Muscle weakness,... OMIM:607855
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Isothenuria, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular vo... OMIM:611590
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Neck flexor weakness, Triceps weakness, Weakness of the intrinsic hand m... ORPHA:98913
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Tremor, Ataxia, Hyperactivity, Spasticity, Cerebral cortical atrophy OMIM:300983
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Proximal muscle weakness, Myopathy, Type 2 muscle fiber atrophy, Weakness of... OMIM:160565
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Cap Myopathy
Fatiguable weakness of proximal limb muscles, Poor head control, Gowers sign, Abnormal muscle fib... ORPHA:171881
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Myopathy, Gait disturbance, Ataxia, Ophthalmoplegia, Spasticity, Increased variabi... OMIM:125250
Ataxia With Vitamin E Deficiency
Gait disturbance, Dystonia, Skeletal muscle atrophy, Dysmetria, Tremor, Ataxia, Muscle weakness, ... ORPHA:96
Cln5 Disease
Clumsiness, Poor gross motor coordination, Cerebellar atrophy, Atrophy/Degeneration affecting the... ORPHA:228360
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Optic neuropathy, Cerebellar atrophy, Dystonia, Global brain atrophy, Axonal degen... OMIM:616811
Spinocerebellar Ataxia Type 36
Babinski sign, Limb myoclonus, Skeletal muscle atrophy, Dysmetria, Hand tremor, Fasciculations, I... ORPHA:276198
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Gowers sign, Decreased muscle mass, Skeletal muscle atrophy, Type 2 muscle fiber atrophy, Decreas... OMIM:608931
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Gener... ORPHA:171433
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Paucity of anterior horn motor neurons, Skeletal muscle atrophy, A... OMIM:253310
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Tremor, Ataxia, Incoordination, Unsteady gait, Abnormal pyramidal sign OMIM:614947
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Dystonia, Rigidity, Global brain atrophy, Bradykinesia, Tremor, Apraxia, Spasticity, ... OMIM:612953
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Proximal muscle weakness, Absent muscle dystrophin expression, Abnormality of the shoulder girdle... ORPHA:206546
Leukodystrophy, Hypomyelinating, 5
Onion bulb formation, Decreased motor nerve conduction velocity, Babinski sign, Truncal titubatio... OMIM:610532
Myopathy With Extrapyramidal Signs
Clumsiness, Optic atrophy, Gowers sign, Peripheral axonal neuropathy, Proximal muscle weakness, C... OMIM:615673
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Glutathionuria
Tremor OMIM:231950
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Cerebral atrophy, Unsteady gait, Titubation OMIM:619405
Spinocerebellar Ataxia 27
Postural tremor, Cerebellar atrophy, Sensory axonal neuropathy, Ataxia, Impaired vibratory sensat... OMIM:609307
Severe Neurodegenerative Syndrome With Lipodystrophy
Myopathy, Poor motor coordination, Caudate atrophy, Neuronal loss in central nervous system, Myoc... ORPHA:363400
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Gait disturbance, Rigidity, Decreased sensory nerve co... OMIM:603472
Majeed Syndrome
Erythroid hyperplasia, Hepatosplenomegaly, Microcytic anemia, Decreased mean corpuscular volume, ... OMIM:609628
Gerstmann-Straussler Disease
Cerebellar atrophy, Rigidity, Myoclonus, Bradykinesia, Tremor, Truncal ataxia, Apraxia, Spasticit... OMIM:137440
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Tremor, Ataxia, Cerebral atrophy OMIM:612126
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Abnormality of the liver, Synd... ORPHA:2169
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Stereotypy, Tremor, Spastic tetraparesis, Hyperactivity, Broad-based gait, Elbow f... OMIM:619470
Amed Syndrome, Digenic
Leukopenia, Bone marrow hypocellularity, Anemia, Long thumb, Acute myeloid leukemia, Thrombocytop... OMIM:619151
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Dystonia, External ophthalmoplegia, Choreoathetosis, Tremor, Ataxia, Muscle weakne... OMIM:619422
Corticobasal Syndrome