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Gene: Sacs MGI:1354724

Gene Summary

Name:

sacsin

Synonyms:

E130115J16Rik

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
preweaning lethality, complete penetrance	Sacs^em1(IMPC)Tcp	HOM	Early adult	0.00
small uterus	Sacs^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal skin morphology	Sacs^em1(IMPC)Tcp	HET	Early adult	0.00
increased mean corpuscular volume	Sacs^em1(IMPC)Tcp	HET	Early adult	4.00×10^-08
abnormal kidney morphology	Sacs^em1(IMPC)Tcp	HET	Early adult	0.00
abnormal spleen morphology	Sacs^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal sternum morphology	Sacs^em1(IMPC)Tcp	HOM	Early adult	0.00
increased mean corpuscular volume	Sacs^em1(IMPC)Tcp	HOM	Early adult	2.58×10^-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.

Eye Morphology

Images Ophthalmoscopy

5 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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Gross Pathology and Tissue Collection

Images

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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Histopathology

Images

11 Images

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Immunophenotyping

Panel B FCS file(s)

9 Images

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Immunophenotyping

Panel A FCS file(s)

9 Images

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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.

Human diseases associated with Sacs (2 diseases)
Human diseases predicted to be associated with Sacs (912 diseases)

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		Cerebellar vermis hypoplasia, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Foot dorsiflexor w...	ORPHA:98
Spastic Ataxia, Charlevoix-Saguenay Type		Peroneal muscle atrophy, Impaired vibration sensation in the lower limbs, Dysmetria, Pontine T2 h...	OMIM:270550

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

Disease	Matching phenotypes	Source
Spinal Muscular Atrophy, Type Iii	Pelvic girdle amyotrophy, Spinal muscular atrophy, Proximal muscle weakness, Hand tremor, Degener...	OMIM:253400
Spinal Muscular Atrophy, Type Iv	Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centr...	OMIM:271150
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Peripheral axonal degeneration, Distal muscle weakness, Axonal degeneration/regeneration, Axonal ...	OMIM:614436
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P...	OMIM:613954
Amyotrophic Lateral Sclerosis 16, Juvenile	Lower limb spasticity, Amyotrophic lateral sclerosis, Loss of ambulation, Lower limb muscle weakn...	OMIM:614373
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Proximal muscle weakness, Axonal degenera...	OMIM:604484
Charcot-Marie-Tooth Disease Type 2B1	Hand muscle atrophy, Hand muscle weakness, Peroneal muscle atrophy, Axonal degeneration, Axonal l...	ORPHA:98856
Spinal Muscular Atrophy, Type Ii	Skeletal muscle atrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cell...	OMIM:253550
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Peripheral axonal degeneration, Hand muscle weakness, Tremor, Axonal degeneration, Dysmetria, Han...	OMIM:302800
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Hand muscle atrophy, Distal muscle weakness, Hand muscle ...	OMIM:607641
Amyotrophic Lateral Sclerosis 8	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness, Postural tremor, ...	OMIM:608627
Posterior Column Ataxia	Impaired vibratory sensation, Ataxia, Impaired proprioception	OMIM:176250
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler...	OMIM:602433
Monomelic Amyotrophy	Tremor, Degeneration of anterior horn cells, Distal upper limb amyotrophy, Fasciculations, Muscle...	ORPHA:65684
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Proximal amyotrophy, Gait disturbance, Fasciculations, Neuronal lo...	OMIM:608030
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal...	OMIM:159950
Juvenile Primary Lateral Sclerosis	Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait ...	ORPHA:247604
Amyotrophic Lateral Sclerosis 11	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Somatic sensory dysfunction, Upper motor ...	OMIM:612577
Amyotrophic Lateral Sclerosis 2, Juvenile	Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni...	OMIM:205100
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal muscle weakness, Re...	OMIM:602099
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Proximal muscle weakness, Axonal degeneration, Distal sensory impairment, Upper limb muscle weakn...	OMIM:616155
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis, Limb muscle weakness, Muscle weakness, Fasciculations	OMIM:619141
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, B...	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, B...	OMIM:616437
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis, Distal muscle weakness, Distal amyotrophy, Spasticity	OMIM:611895
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Neck flexor weakness, Clonus, Chorea, Upper-limb joint contracture, Opis...	ORPHA:300605
Amyotrophic Lateral Sclerosis 1	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal...	OMIM:105400
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Progressive external ophthalmoplegia, Peripheral axonal degeneration, Dystoni...	OMIM:208920
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Distal amyotrophy,...	OMIM:617018
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Abnormal pyra...	ORPHA:95434
Amyotrophic Lateral Sclerosis 18	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Spasticity, Muscle weakness	OMIM:614808
Pontocerebellar Hypoplasia, Type 1A	Ataxia, Spinal muscular atrophy, Hypoplasia of the pons, Hand tremor, Limb ataxia, Degeneration o...	OMIM:607596
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Skeletal muscle atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Flexion contracture, Babin...	OMIM:611105
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology, Waddling gait, Distal muscle weakness, Spinal muscular at...	OMIM:611067
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Distal mu...	OMIM:606482
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Impaired vibratory sensation, Impaired temperature sensation, Impaired pain sensation, Impaired p...	DECIPHER:29
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Waddling gait, Somatic sensory dysfunction, Spinal muscular atrophy, Type 2 muscle fiber predomin...	OMIM:158600
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P...	OMIM:105550
Sandhoff Disease, Adult Form	Tremor, Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Focal d...	ORPHA:309169
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Distal muscle ...	OMIM:616199
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness	OMIM:205250
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Skeletal muscle atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Axonal degeneratio...	OMIM:620011
Mitochondrial Myopathy With Diabetes	Ataxia, Facial palsy, Proximal muscle weakness, Ragged-red muscle fibers, Babinski sign, Limb mus...	OMIM:500002
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscle weakness, Abnormal morphology of muscu...	ORPHA:600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe...	OMIM:618138
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Parkinsonism...	OMIM:105500
Charcot-Marie-Tooth Disease, Type 4C	Peripheral axonal degeneration, Distal muscle weakness, Greater auricular nerve thickening, Facia...	OMIM:601596
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Distal lower limb amyotrophy, Decreased number of large peripheral myelinated nerve fibers, Axona...	ORPHA:90103
Mitochondrial Dna Depletion Syndrome 18	Hand muscle atrophy, Distal muscle weakness, Clonus, Proximal muscle weakness, Axonal degeneratio...	OMIM:618811
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Tet...	OMIM:617892
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle w...	OMIM:612069
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Distal muscle weakness, Tremor, Distal sensory impairment, Distal amyotrophy, Fiber type grouping	OMIM:614369
Charcot-Marie-Tooth Disease, Type 4A	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Distal mu...	OMIM:214400
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Ragged-red muscle fibers, Imp...	ORPHA:276435
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Spinocerebellar Ataxia 18	Cerebellar atrophy, Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis...	OMIM:607458
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscl...	OMIM:606070
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Distal muscle weakness, Tremor, Gait ataxia, Dif...	ORPHA:423296
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Tremor, Dysmetr...	OMIM:618387
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Skeletal muscle atrophy, Dystonia, Ataxia, Hypoplasia of the pons, Respirator...	OMIM:618276
Amyotrophic Lateral Sclerosis 19	Respiratory insufficiency due to muscle weakness, Loss of ambulation, Amyotrophic lateral sclerosis	OMIM:615515
Pontocerebellar Hypoplasia Type 1	Skeletal muscle atrophy, Peripheral axonal neuropathy, Ataxia, Hypoplasia of the pons, Optic atro...	ORPHA:2254
Spinal Muscular Atrophy, Jokela Type	Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Distal sensory impairment, Calf muscle ...	OMIM:615048
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Torticollis, Distal muscle weakness, Ataxia, Peripheral axonal neuropathy, Tr...	OMIM:607317
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Amyotrophic lateral sclerosis, Distal muscle weakness, Proximal muscle weakness, F...	ORPHA:52430
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Dystonia	OMIM:300857
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Frequent falls, Achilles t...	OMIM:620068
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy	OMIM:615426
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotemporal cerebral atrophy, Br...	ORPHA:412066
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations, Loss of ambulation, Muscle ...	OMIM:613435
Spinal Muscular Atrophy, Segmental	Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy	OMIM:183020
Machado-Joseph Disease Type 3	Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Progressive gait ataxia, ...	ORPHA:276244
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Distal muscle weakness, Spinal muscular atrophy, Proximal muscle weakness, Tremor, Proximal amyot...	OMIM:182980
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis, Distal amyotrophy	OMIM:205200
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Distal muscle weakness, Proxima...	OMIM:618655
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Bulbar palsy, Distal muscle weakness, Weakness due to upp...	ORPHA:275872
Spinocerebellar Ataxia 38	Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Tremor, Limb ataxia, Gait ataxia, M...	OMIM:615957
Nonaka Myopathy	Distal muscle weakness, Distal amyotrophy, Gait disturbance, EMG: myopathic abnormalities, Distal...	OMIM:605820
Boucher-Neuhauser Syndrome	Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Distal amyotrophy, Abnormal upp...	OMIM:215470
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased number of peripheral myelinated nerve fibers, Decreased muscle mass, Peripheral axonal ...	OMIM:615490
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Neck flexor weakness, Dista...	ORPHA:178464
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Axonal degenerati...	OMIM:609260
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Impaired vibratory sensation, Waddling gait, Somatic sensory dysfunction, Proximal muscle weaknes...	OMIM:616924
X-Linked Charcot-Marie-Tooth Disease Type 3	Distal lower limb amyotrophy, Somatic sensory dysfunction, Peripheral axonal neuropathy, Progress...	ORPHA:101077
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness,...	OMIM:254110
Charcot-Marie-Tooth Disease, Axonal, Type 2X	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Peripheral axonal neuropat...	OMIM:616668
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Ro...	OMIM:611890
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Distal muscle weakness, Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Voca...	OMIM:158580
Primary Lateral Sclerosis, Adult, 1	Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ...	OMIM:611637
Spinocerebellar Ataxia Type 31	Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity	ORPHA:217012
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Abnormal anterior horn cell mor...	ORPHA:1145
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
X-Linked Progressive Cerebellar Ataxia	Distal lower limb amyotrophy, Babinski sign, Cerebellar vermis atrophy, Unsteady gait, Dysmetria,...	ORPHA:1175
Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Fatigabl...	ORPHA:803
Spinocerebellar Ataxia 35	Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ...	OMIM:613908
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy	OMIM:311050
Myopathy, Myofibrillar, 5	Waddling gait, Proximal muscle weakness, Abnormal peripheral nervous system morphology, Muscle fi...	OMIM:609524
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Peripheral axonal degeneration, Distal muscle weakness, Spinal muscular atrophy, Camptodactyly of...	OMIM:604320
Spinocerebellar Ataxia 37	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls	OMIM:615945
Primary Lateral Sclerosis, Juvenile	Appendicular spasticity, Spastic tetraparesis, Babinski sign, Spastic gait, Spastic dysarthria, P...	OMIM:606353
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Muscle weakness, Gait ataxia	ORPHA:401953
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Waddling gait, Respiratory insufficiency due to muscle we...	ORPHA:2590
Welander Distal Myopathy	Steppage gait, Distal amyotrophy, Distal muscle weakness, Rimmed vacuoles	OMIM:604454
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Amyotrophic lateral sclerosis, Bulbar palsy, Ataxia, Parkinsonism, Proximal muscle weakness, Babi...	OMIM:615911
Charcot-Marie-Tooth Disease And Deafness	Distal muscle weakness, Thenar muscle atrophy, Ankle weakness, Tremor, Thenar muscle weakness, Sp...	OMIM:118300
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Clumsiness, Myopathy, Di...	ORPHA:603
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Generalized amyotrophy, Loss of ambulation, Scapular winging, Facial palsy, Progressive proximal ...	OMIM:167320
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Proximal muscle weakness, Quadriceps m...	ORPHA:611
Distal Myopathy With Anterior Tibial Onset	Absent muscle fiber dysferlin, Somatic sensory dysfunction, Tibialis muscle weakness, Limb-girdle...	ORPHA:178400
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Skeletal muscle atrophy, Clonus, Ragged-red muscle fibers, Abnormal pyramidal sign, Dysmetria, Ax...	OMIM:616479
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Hand muscle atrophy, Onion bulb formation, Distal muscle weakness, Facial palsy, Impaired pain se...	OMIM:607684
Zebra Body Myopathy	Waddling gait, Torticollis, Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal m...	ORPHA:97240
Spinal Muscular Atrophy, X-Linked 2	Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Respiratory insufficiency due...	OMIM:301830
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Onion bulb formation, Angulated muscle fibers, Decreased number of large peripheral myelinated ne...	OMIM:608340
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hand muscle weakness, Impaired temperature sensation, Quadriceps muscle weakness, Flexion contrac...	ORPHA:99947
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Cerebellar atrophy, Scapular winging, Distal muscle weakn...	OMIM:614298
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Distal sensory im...	OMIM:607677
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato...	ORPHA:98769
Spastic Paraplegia 9A, Autosomal Dominant	Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Distal muscle weakness, Corp...	OMIM:601162
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Autosomal Recessive Progressive External Ophthalmoplegia	Cerebellar atrophy, Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, External ophtha...	ORPHA:254886
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb...	OMIM:616053
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Peripheral axonal degeneration, Skeletal muscle atrophy, Hand muscle weakness, Impaired distal pr...	ORPHA:101097
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Spinocerebellar Ataxia 28	Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Ragged-red muscle fibers, Babinski...	OMIM:610246
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Distal musc...	OMIM:118210
Finnish Upper Limb-Onset Distal Myopathy	Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu...	ORPHA:399086
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Proximal muscle weakness, Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal...	OMIM:618848
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Distal muscle weakness, Impaired pain sensation, Fatty replacement of skeletal muscle, Babinski s...	OMIM:618279
Autosomal Recessive Spastic Paraplegia Type 67	Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Spastic gait, ...	ORPHA:401820
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology, Achilles tendon contracture, Babinski sign, Spastic parap...	OMIM:607225
Striatonigral Degeneration, Infantile, Mitochondrial	Incoordination, Poor motor coordination, Clonus, Chorea, Ragged-red muscle fibers, Babinski sign,...	OMIM:500003
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, External ophthalmoplegia, Tremor, Babinski sign, Unsteady gait, Limb ataxia, ...	OMIM:615768
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia, Cerebellar hypoplasia	OMIM:213000
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Distal muscle weakness, Autophagic vacuoles, Facial hypotonia, Proximal muscle weakness, Fatty re...	ORPHA:266
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Peripheral axonal degeneration, Ataxia, Acute rhabdomyolysis, Chorea, Axonal degeneration, Babins...	OMIM:604168
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato...	ORPHA:399058
Spastic Ataxia 2, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral...	OMIM:611302
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ...	ORPHA:35689
Myasthenic Syndrome, Congenital, 17	Difficulty walking, Muscle weakness, Type 1 muscle fiber predominance	OMIM:616304
Myopathy, Vacuolar, With Casq1 Aggregates	Muscle weakness, Muscle fiber calsequestrin 1-containing inclusion bodies, Proximal muscle weakness	OMIM:616231
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Proximal muscle weak...	ORPHA:401768
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Truncal titubation, Abnormal spinal cord morphology, Axonal degeneration, Impaired vibrat...	ORPHA:88628
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Peripheral axonal degeneration, Proximal muscle weakness in upper limbs, Decreased number of peri...	OMIM:607706
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Abnormality of the dorsal column of the spinal cord, Impaired distal proprioception, Tremor, Flex...	ORPHA:137898
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo...	ORPHA:363710
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Torticollis, Ophthalmoplegia, Babinski sign, Dysmetria, Gait ataxia, Limb ata...	ORPHA:276193
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Foot dorsiflexor weakness, Peroneal muscle atrophy, Scapuloperoneal weakness, Z-band streaming, T...	OMIM:181400
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ...	OMIM:600363
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Distal muscle weakness, Ataxia, Proximal muscle weakness, External ophthalmoplegia, Tremor, Cereb...	OMIM:618637
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Waddling gait, Calf muscle pseudohypertrophy, Scapular winging, Neck flexor weakness, Centrally n...	OMIM:608358
Spinocerebellar Ataxia, Autosomal Recessive 21	Skeletal muscle atrophy, Distal muscle weakness, Impaired pain sensation, Tremor, Limb ataxia, Ga...	OMIM:616719
Spinocerebellar Ataxia 12	Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi...	OMIM:604326
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Spastic Paraplegia 17, Autosomal Dominant	Lower limb spasticity, Distal muscle weakness, Postural tremor, Thenar muscle atrophy, Impaired d...	OMIM:270685
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Distal muscle weakness, Facial palsy, ...	OMIM:160500
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Ataxia, Ragged-red muscle fibers, Myopathy, Myoclonus, Spasticity, Muscle weakness	OMIM:545000
Spastic Paraplegia Type 7	Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Ragged-red muscle fibers, Abn...	ORPHA:99013
Dystonia 23	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea...	OMIM:614860
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Type ...	OMIM:619028
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gai...	ORPHA:521406
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Cerebellar atrophy, Ataxia, Involuntary movements, Decreased number of large peripheral myelinate...	OMIM:271245
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Distal upper limb muscle weakness, Muscle fiber splitting, Weakness ...	OMIM:617030
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls	ORPHA:494526
Idiopathic Camptocormia	Amyotrophic lateral sclerosis, Myositis, Parkinsonism, Fatigable weakness of skeletal muscles, Fa...	ORPHA:1320
Roussy-Levy Hereditary Areflexic Dystasia	Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Upper limb postur...	OMIM:180800
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Spastic Paraplegia 30, Autosomal Dominant	Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Lower limb muscl...	OMIM:610357
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor...	ORPHA:98762
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen...	OMIM:610245
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Abdominal wall muscle weakness, Centra...	OMIM:619733
Myasthenic Syndrome, Congenital, 12	Waddling gait, Facial palsy, Proximal muscle weakness, Gowers sign, Ragged-red muscle fibers, Pro...	OMIM:610542
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:206100
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, S...	OMIM:258450
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu...	OMIM:614561
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Atrophy of the dentate nucleus, Short palm, Broad-based gait, Ataxia, Tremor,...	OMIM:610185
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Segmental periphe...	OMIM:607734
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Neck flexor weakness, Facial p...	OMIM:616209
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Ophthalmoplegia, Increased variabili...	OMIM:619473
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Nemaline Myopathy 2	Skeletal muscle atrophy, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexion cont...	OMIM:256030
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Bulbar palsy, Limb muscle weakness	OMIM:619133
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Distal muscle weakness, Axonal degeneration/regeneration, Thenar muscle atrophy, Segmental periph...	OMIM:606483
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia	OMIM:141500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Polyglucosan Body Neuropathy, Adult Form	Peripheral axonal neuropathy, Spastic paraplegia, Distal sensory impairment, Paresthesia, Tetrapa...	OMIM:263570
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Peripheral axonal degeneration, Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Ataxia, ...	OMIM:615157
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Impai...	ORPHA:251282
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Axonal degenerati...	OMIM:605588
Autosomal Dominant Spastic Paraplegia Type 17	Hand muscle atrophy, Postural tremor, Hand muscle weakness, Ankle weakness, Abnormality of the fo...	ORPHA:100998
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Scapular winging, Proximal muscle weakness, Angulated muscle fibers, Shoulder girdle muscle weakn...	OMIM:619477
Spinocerebellar Ataxia Type 2	Postural tremor, Parkinsonism, Kinetic tremor, Olivopontocerebellar hypoplasia, Chorea, Cerebella...	ORPHA:98756
Nemaline Myopathy 7	Waddling gait, Frequent falls, Fatty replacement of skeletal muscle, Gowers sign, Respiratory ins...	OMIM:610687
Roussy-Lévy Syndrome	Impaired vibratory sensation, Skeletal muscle atrophy, Somatic sensory dysfunction, Postural trem...	ORPHA:3115
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Amyotrophy, Hereditary Neuralgic	Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degeneration, Muscle weakness	OMIM:162100
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Skeletal muscle atrophy, Somatic sensory dysfunction, Peripheral axonal neuro...	ORPHA:98771
Frontotemporal Dementia	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Parkinsonism	OMIM:600274
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Proximal muscle weakness, Limb-girdle muscle weaknes...	OMIM:608099
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Abdominal wall muscle weakness, Centrally nucleated skeletal muscl...	OMIM:615424
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Peripheral...	OMIM:617070
Nemaline Myopathy 5C, Autosomal Dominant	Waddling gait, Skeletal muscle atrophy, Scapular winging, Poor head control, Proximal muscle weak...	OMIM:620389
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Waddling gait, Bulbar palsy, Facial palsy, Gowers sign, Flexion contracture, Shoulder girdle musc...	OMIM:603511
Moderate Multiminicore Disease With Hand Involvement	Facial palsy, Generalized muscle weakness, Intrinsic hand muscle atrophy, Axial muscle weakness, ...	ORPHA:178145
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Distal lower limb amyotrophy, Impaired vibratory sensation, Impaired pain sensation, Distal senso...	OMIM:615185
Congenital Myopathy 23	Waddling gait, Skeletal muscle atrophy, Scapular winging, Gowers sign, Flexion contracture, Facia...	OMIM:609285
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebellar atrophy, Parkinsonism, Action tremor, Rigidity, Babinski sign, Slurred speech, Cerebra...	OMIM:300423
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma...	OMIM:615362
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Ataxia, Inability to walk, Ragged-red muscle fibers, Athetosis, Abnormality of extrapyramidal mot...	OMIM:615159
Spinocerebellar Ataxia Type 20	Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma...	ORPHA:101110
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Progressive distal muscle weakness, Increased variability in muscl...	ORPHA:488650
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Waddling gait, Proximal muscle weakness, Gowers sign, Unsteady gait, Myopathy, Limb-girdle muscul...	OMIM:612937
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Skeletal muscle atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Paralysis, Distal ...	OMIM:613710
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Ataxia, Tremor, Myoclonus	OMIM:616187
Mitochondrial Complex I Deficiency, Nuclear Type 21	Ataxia, Abnormal cerebellum morphology, Babinski sign, Ragged-red muscle fibers, Myopathy, Diffic...	OMIM:618242
Congenital Myopathy 6 With Ophthalmoplegia	Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Distal muscle weakness, Proximal ...	OMIM:605637
Inclusion Body Myositis	Inflammatory myopathy, Distal muscle weakness, Proximal muscle weakness, Rimmed vacuoles	OMIM:147421
Autosomal Spastic Paraplegia Type 58	Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr...	ORPHA:397946
X-Linked Charcot-Marie-Tooth Disease Type 6	Distal lower limb amyotrophy, Thenar muscle atrophy, Impaired vibration sensation in the lower li...	ORPHA:352675
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Spinocere...	OMIM:617916
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Ataxia, Proximal muscle weakness, Tremor, Abnormal pyramidal sign, Myoclonus,...	OMIM:612016
X-Linked Charcot-Marie-Tooth Disease Type 4	Skeletal muscle atrophy, Distal muscle weakness, Ataxia, Impaired pain sensation, Tremor, Gait di...	ORPHA:101078
Myopathy, Distal, 3	Distal muscle weakness, Split hand, Clumsiness, Distal amyotrophy, Steppage gait, Muscular dystro...	OMIM:610099
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Waddling gait, Skeletal muscle atrophy, Distal muscle weakness, Ankle flexion contracture, Centra...	OMIM:617760
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella...	ORPHA:284332
Behr Syndrome	Cerebellar atrophy, Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Optic atrophy, Un...	OMIM:210000
Myopathy, Myofibrillar, 2	Distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle muscle weak...	OMIM:608810
Spastic Paraplegia 46, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Babinski sign, Spastic g...	OMIM:614409
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d...	OMIM:609115
Spastic Paraplegia 78, Autosomal Recessive	Cerebellar atrophy, Resting tremor, Impaired vibratory sensation, Peripheral axonal neuropathy, A...	OMIM:617225
Oculopharyngodistal Myopathy 2	Bulbar palsy, Distal muscle weakness, Fatty replacement of skeletal muscle, External ophthalmople...	OMIM:618940
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Peripheral axonal neuropathy, Distal amyotrophy, Ataxia	OMIM:619099
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Generalized muscle weakne...	ORPHA:34516
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Cerebellar vermis hypoplasia, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Foot dorsiflexor w...	ORPHA:98
Congenital Muscular Dystrophy Without Intellectual Disability	Cerebellar atrophy, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle...	ORPHA:370980
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Waddling gait, Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystroglycan, Ankle flex...	ORPHA:280333
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Amyotrophic Lateral Sclerosis 27, Juvenile	Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Prog...	OMIM:620285
Spastic Paraplegia 5A, Autosomal Recessive	Lower limb spasticity, Postural tremor, Lower limb muscle weakness, Impaired distal proprioceptio...	OMIM:270800
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor fun...	OMIM:302500
Myopathy, Myofibrillar, 3	Progressive distal muscle weakness, Proximal muscle weakness, Achilles tendon contracture, Distal...	OMIM:609200
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Neck flexor weakness, Proximal muscle weakness, Quadriceps muscle weakness, Ach...	OMIM:603689
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Proximal muscle weakness, Tremor, Talipes cavus equinovarus, Abnormal pyramid...	ORPHA:139485
Merrf	Optic atrophy, Myopathy, Ragged-red muscle fibers, Ataxia	ORPHA:551
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Elbow flexion contracture, Bradykinesia, Subcortical cere...	ORPHA:306692
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy...	ORPHA:71517
Combined Oxidative Phosphorylation Deficiency 6	Skeletal muscle atrophy, Involuntary movements, Respiratory insufficiency due to muscle weakness,...	OMIM:300816
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Tremor, Impaired temperature ...	OMIM:619574
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormal peripheral myelination, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongu...	ORPHA:466768
Congenital Myasthenic Syndromes With Glycosylation Defect	Waddling gait, Scapular winging, Poor head control, Distal muscle weakness, Facial palsy, Proxima...	ORPHA:353327
O'Sullivan-Mcleod Syndrome	Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Hand muscle weak...	ORPHA:99965
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Poor head control, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Fl...	OMIM:300717
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Neck flexor weakness, Ragged-red muscle fibers, Proximal...	ORPHA:457050
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Distal muscle weakness, Proximal muscle weakness, In...	OMIM:618654
Atypical Juvenile Parkinsonism	Resting tremor, Dystonia, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal ...	ORPHA:391411
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb...	ORPHA:314978
Miyoshi Muscular Dystrophy 1	Distal muscle weakness, Distal amyotrophy, Tip-toe gait, Muscular dystrophy, Lower limb muscle we...	OMIM:254130
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Abdominal wall muscle weakness, Centrally nucleated skeletal muscle fibers, Fat...	OMIM:618129
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du...	OMIM:620286
Nemaline Myopathy 6	Skeletal muscle atrophy, Neck flexor weakness, Myopathy, Gait disturbance, Limb muscle weakness, ...	OMIM:609273
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega...	ORPHA:3202
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Skeletal muscle hypertrophy,...	ORPHA:99014
Autosomal Recessive Spastic Paraplegia Type 26	Skeletal muscle atrophy, Lower limb spasticity, Abnormal cerebellum morphology, Babinski sign, Ps...	ORPHA:101006
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v...	OMIM:616291
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Skeletal muscle atrophy, Peripheral axonal neuropathy, Somatic sensory dysfunction, Steppage gait...	OMIM:620378
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tapered finger, Tremor, Cerebellar glio...	OMIM:616505
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Spastic Paraplegia 79B, Autosomal Recessive	Flexion contracture, Hoffmann sign, Impaired proprioception, Dysmetria, Loss of ambulation, Inten...	OMIM:615491
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Poor head control, Dystonia, Ataxia, Increased neuronal autofluorescent lipop...	ORPHA:79263
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Distal amyotrophy, Gait di...	OMIM:612020
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Tremor, Fatiguable weakness of proximal limb muscles, Inability to w...	ORPHA:90117
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Torticollis, Frequent falls, Abnormal muscle fiber morphology, Flexion contracture, Elb...	ORPHA:75840
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Hereditary Continuous Muscle Fiber Activity	Ataxia, Congenital diaphragmatic hernia, Slurred speech, Type 1 muscle fiber predominance, Spasti...	ORPHA:972
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor,...	ORPHA:330050
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Rigidity, Inability to walk, Dysmetria,...	OMIM:618090
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Babinski sign, Cerebral atrophy, Axonal loss, Gait disturbance, Myoclonus, Aprax...	OMIM:221770
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Spinocerebellar Ataxia 2	Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Ophthalmoplegia, Distal amyotrophy...	OMIM:183090
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Skeletal muscle atrophy, Hand muscle weakness, Impaired proprioception, Hand...	ORPHA:101085
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Gowers sign, Increase...	OMIM:613204
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Distal upper limb amyotrop...	ORPHA:101075
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Distal muscle weakness, Autophagic vacuoles, Centrally nucleated skeletal muscl...	OMIM:608423
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa...	OMIM:128230
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet...	OMIM:616948
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Myasthenic Syndrome, Congenital, 14	Waddling gait, Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w...	OMIM:616228
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Talipes cavus equin...	ORPHA:59135
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Myoclonus, Tetraparesis, Dystonia, Spa...	OMIM:615924
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro...	ORPHA:423275
Neurodegeneration With Brain Iron Accumulation 6	Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Tip-toe gait, Neurodege...	OMIM:615643
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di...	ORPHA:314632
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Dystonia, Spasticity, ...	OMIM:615889
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Ataxia, Proximal muscle weakness, Rhabdomyolysis, Ragged-red muscle fibers, Choreoathetosis, Dyst...	OMIM:618416
Congenital Myopathy 2A, Typical, Autosomal Dominant	Waddling gait, Bulbar palsy, Neck flexor weakness, Facial palsy, Frequent falls, Proximal muscle ...	OMIM:161800
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ...	OMIM:213200
Spinocerebellar Ataxia 5	Cerebellar atrophy, Impaired vibratory sensation, Poor head control, Incoordination, Ataxia, Broa...	OMIM:600224
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Cerebellar atrophy, Ataxia, Inability to walk, Gait ataxia, Increased variability in muscle fiber...	OMIM:617915
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi...	ORPHA:1170
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Somatic sensory dysfunction, Optic atrophy, Generalized limb muscle atrophy, Spasticity, Gait ata...	ORPHA:466794
Oculopharyngodistal Myopathy 4	Distal muscle weakness, Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscl...	OMIM:619790
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Subcortical cerebral atrophy, Hypertonia, Cerebellar hyp...	ORPHA:33445
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ...	OMIM:619862
Charcot-Marie-Tooth Disease Type 4D	Somatic sensory dysfunction, Distal muscle weakness, Postural tremor, Proximal muscle weakness, I...	ORPHA:99950
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Thenar muscle atrophy, Dysmetria, Dysdiadochokinesis, Distal lower limb muscle weakness, Inteross...	OMIM:619903
Congenital Myopathy 14	Hip contracture, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flex...	OMIM:618414
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Frequent fa...	ORPHA:353
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Loss of ability to walk in early childhood, Respiratory insufficiency due to muscle weakness, Gow...	OMIM:609560
Distal Myotilinopathy	Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak...	ORPHA:98911
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Ataxia, Tremor, Cerebellar hypoplasia, Limb dystonia, Bilateral coxa valga	OMIM:620270
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Distal muscle weakness, Neck flexor weakness, Centrally nucleated skeletal musc...	OMIM:601846
Bethlem Myopathy	Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ...	ORPHA:610
Autosomal Recessive Spastic Paraplegia Type 15	Impaired vibratory sensation, Lower limb spasticity, Peripheral axonal neuropathy, Abnormal cereb...	ORPHA:100996
Subacute Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Distal muscle weakness, Symmetric peripheral demyelination, Tremor, ...	ORPHA:206594
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Poor head control, Facial palsy, Ophthalmoplegia, Flexion contracture, K...	OMIM:616313
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dystonia, Ataxia, Ophthalmoplegia, Ragged-red muscle fibers, Flexion contracture, Babinski sign, ...	OMIM:252011
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Neck flexor weakness, Elbow contracture, Ankle contracture, Proximal muscle weak...	OMIM:620386
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, G...	OMIM:117000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	Progressive external ophthalmoplegia, Facial palsy, Ragged-red muscle fibers, Generalized muscle ...	OMIM:609283
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Distal muscle weakness, Abnormal muscle fiber morphology...	ORPHA:598
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Marinesco-Sjogren Syndrome	Cerebellar atrophy, Skeletal muscle atrophy, Short metacarpal, Ataxia, Centrally nucleated skelet...	OMIM:248800
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Extrapyramidal muscular rigidity, Action tremor, Inability to walk, Babinski ...	ORPHA:93952
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Distal muscle weakness, Distal amyotrophy, Type 1 muscle fiber predominance, Inc...	OMIM:619042
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Spastic Paraplegia 9B, Autosomal Recessive	Skeletal muscle atrophy, Corpus callosum atrophy, Tremor, Babinski sign, Spastic paraplegia, Impa...	OMIM:616586
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai...	OMIM:607459
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Proximal muscle weakness, Muscular dystrophy, Loss of ambulation, Increa...	OMIM:253601
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri...	OMIM:256731
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal...	OMIM:617672
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Di...	ORPHA:98764
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Sensory axonal neuropathy	OMIM:612437
Severe X-Linked Mitochondrial Encephalomyopathy	Skeletal muscle atrophy, Involuntary movements, Generalized muscle weakness, Tongue fasciculation...	ORPHA:238329
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Supranucl...	OMIM:164500
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid...	OMIM:614831
Autosomal Recessive Spastic Paraplegia Type 46	Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Broad-based gait, Ataxia...	ORPHA:320391
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Poor head control, Peripheral axonal neuropathy, Facial palsy, Ankle flexion contracture, Type 1 ...	OMIM:617519
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals...	OMIM:616852
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Adrenomyeloneuropathy	Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Dysesthe...	ORPHA:139399
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Dystonia, Ataxia, Parkinsonism, Writer's cramp, Involuntary move...	ORPHA:98759
Adult-Onset Nemaline Myopathy	Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, Incr...	ORPHA:171442
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Distal muscle weakness, Park...	ORPHA:329478
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14	Hypoglycosylation of alpha-dystroglycan, Poor head control, Ataxia, Hypoplasia of the pons, Inabi...	OMIM:615350
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Z-band streami...	OMIM:619178
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Increased intramyocellular lipid droplets, Dy...	OMIM:619065
Spinocerebellar Ataxia 1	Skeletal muscle atrophy, Chorea, Impaired proprioception, Dysmetria, Dorsal column degeneration, ...	OMIM:164400
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,...	ORPHA:98870
Congenital Muscular Dystrophy With Intellectual Disability	Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Cerebellar vermis hypoplasi...	ORPHA:370968
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Skeletal muscle atrophy, Dystonia, Postural tremor, Loss of Purkinje cells in...	ORPHA:98755
Parkinsonism-Dystonia 2, Infantile-Onset	Poor head control, Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochoki...	OMIM:618049
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A...	OMIM:619566
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Congenital Myopathy With Myasthenic-Like Onset	Scapular winging, Multiple joint contractures, Proximal muscle weakness, Respiratory insufficienc...	ORPHA:424107
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Waddling gait, Reduced muscle fiber alpha dystroglycan, Proximal muscle weakness, Calf muscle hyp...	ORPHA:34515
Myasthenic Syndrome, Congenital, 1A, Slow-Channel	Hand muscle atrophy, Intermittent episodes of respiratory insufficiency due to muscle weakness, O...	OMIM:601462
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hematuria, Increased mean c...	OMIM:617021
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,...	OMIM:617145
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Optic atrophy, Focal dystonia, C...	ORPHA:216873
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Neck flexor weakness, Impaired distal proprioception, Progressive muscle...	OMIM:157640
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, ...	OMIM:300718
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Fatiguable weakness of proximal limb muscles, Muscle ...	ORPHA:2593
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume	OMIM:185000
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Spastic tetraparesis, External ophth...	OMIM:612319
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Waddling gait, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Limb-girdle ...	ORPHA:86812
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Small hand, ...	OMIM:617435
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Scapuloperoneal weakness, Ac...	OMIM:300696
Cerebrotendinous Xanthomatosis	Abnormal tibia morphology, Axonal degeneration, Abnormal pyramidal sign, Abnormal femur morpholog...	ORPHA:909
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Spinal muscular atrophy, type I, with congenital bone fractures	Decreased muscle mass, Arachnodactyly, Rocker bottom foot, Flexion contracture, Acute infantile s...	OMIM:271225
Mitochondrial Myopathy, Infantile, Transient	Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Increas...	OMIM:500009
Spinocerebellar Ataxia 42	Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm...	OMIM:616795
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Tremor, Gowers sign, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle ...	ORPHA:209335
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, ...	OMIM:618093
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Tremor, Progressive muscle weakness, Proximal amyo...	OMIM:605355
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig...	ORPHA:284324
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Dystonia, Involuntary movements, Chorea, Generalized muscle weakness, Paroxysmal ...	OMIM:606703
Congenital Myopathy 10B, Mild Variant	Neck flexor weakness, Elbow contracture, Proximal muscle weakness, Fatty replacement of skeletal ...	OMIM:620249
Combined Oxidative Phosphorylation Defect Type 27	Diffuse cerebral atrophy, Involuntary movements, Upper limb postural tremor, Ragged-red muscle fi...	ORPHA:477774
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Respiratory insufficiency due to muscle weakness, Generalized muscle weakn...	OMIM:603034
Muscle Filaminopathy	Scapular winging, Neck flexor weakness, Fatty replacement of skeletal muscle, Abnormality of mast...	ORPHA:171445
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Proximal muscle ...	OMIM:617069
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du...	OMIM:617066
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Peroxisome Biogenesis Disorder 8B	Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Brain atroph...	OMIM:614877
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Neurodegeneration, Congenital diaphragmatic hernia, Gait ataxia	ORPHA:438134
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Oculopharyngeal Muscular Dystrophy	Abnormal muscle fiber morphology, Ophthalmoplegia, Ragged-red muscle fibers, Myopathy, Rimmed vac...	ORPHA:270
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar ...	OMIM:617810
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Chronic axonal neuropathy, Peripheral axonal neuropathy, Distal muscle weakne...	OMIM:606002
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ...	ORPHA:98902
Myopathy, Centronuclear, 2	Waddling gait, Scapular winging, Distal muscle weakness, Facial palsy, Centrally nucleated skelet...	OMIM:255200
Riboflavin Transporter Deficiency	Skeletal muscle atrophy, Bulbar palsy, Optic disc pallor, Ataxia, Facial palsy, Tremor, Myoclonus...	ORPHA:97229
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Proximal muscle weakness, Impaired distal proprioception, Ragged-re...	ORPHA:70595
Childhood-Onset Nemaline Myopathy	Waddling gait, Scapular winging, Respiratory insufficiency due to muscle weakness, Fatigable weak...	ORPHA:171439
Spinocerebellar Ataxia With Epilepsy	Tremor, Optic atrophy, Dysmetria, Gait ataxia, Ophthalmoparesis, Myopathy, Progressive cerebellar...	ORPHA:254881
Ane Syndrome	Motor neuron atrophy, Multiple joint contractures, Generalized amyotrophy, Ulnar deviation of the...	ORPHA:157954
Hemiparkinsonism-Hemiatrophy Syndrome	Dystonia, Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Cerebral cortical hemiatrophy, Brain a...	ORPHA:306669
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Waddling gait, Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Increased var...	ORPHA:1878
Congenital Myopathy 10A, Severe Variant	Poor head control, Facial palsy, Camptodactyly of finger, Diaphragmatic paralysis, Increased vari...	OMIM:614399
De Sanctis-Cacchione Syndrome	Ataxia, Axonal degeneration, Scissor gait, Babinski sign, Cerebral atrophy, Optic atrophy, Choreo...	OMIM:278800
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo...	OMIM:615234
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Distal lower limb amyotrophy, Impaired vibratory sensation, Thenar muscle atrophy, Babinski sign,...	OMIM:500013
Myopathy, Centronuclear, 4	Frequent falls, Muscle weakness, Type 1 muscle fiber predominance, Centrally nucleated skeletal m...	OMIM:614807
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Progressive external ophthalmoplegia, Parkinsonism, Proximal muscle weakness, Progressive muscle ...	OMIM:609286
Spinocerebellar Ataxia 50	Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ...	OMIM:620158
Ataxia-Oculomotor Apraxia 3	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Dysmetria, Distal sensory impairment, D...	OMIM:615217
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Proximal muscle...	OMIM:618823
X-Linked Charcot-Marie-Tooth Disease Type 2	Distal lower limb amyotrophy, Optic disc pallor, Clasp-knife sign, Tibialis anterior muscle atrop...	ORPHA:101076
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Progressive external ophthalmoplegia, Ataxia, Hemiplegia/hemiparesis, Ra...	ORPHA:480
Rhabdomyolysis, Susceptibility To, 1	Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Type 2 muscle...	OMIM:620235
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7	Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,...	OMIM:616052
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Bulbar palsy, Facial palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Genera...	OMIM:608930
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Fatigable weakness of skeletal muscles...	ORPHA:206559
Hypermanganesemia With Dystonia 2	Tremor, Scissor gait, Opisthotonus, Limb dystonia, Parkinsonism, Clumsiness, Gait disturbance, Hy...	OMIM:617013
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Congenital Myopathy 3 With Rigid Spine	Poor head control, Neck flexor weakness, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:602771
Myopathy, Distal, Tateyama Type	Neck flexor weakness, Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic...	OMIM:614321
Congenital Myopathy 24	Waddling gait, Scapular winging, Facial palsy, Gowers sign, Talipes equinovarus, Type 1 muscle fi...	OMIM:617336
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu...	OMIM:617284
Myopathy, Tubular Aggregate, 1	Proximal muscle weakness, External ophthalmoplegia, Flexion contracture, Type 2 muscle fiber atro...	OMIM:160565
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Hypoglycosylation of alpha-dystroglycan, Ankle flexion contracture, Gowers sign, Limb-girdle musc...	OMIM:613818
Combined Oxidative Phosphorylation Deficiency 29	Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Dystonia, Spasticity, G...	OMIM:616811
Autosomal Dominant Spastic Paraplegia Type 9B	Peripheral axonal neuropathy, Postural tremor, Atrophy of the spinal cord, Babinski sign, Elbow f...	ORPHA:447757
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Proximal muscle weakness, Quadriceps muscle weakness, Inability to walk, Generalized muscle weakn...	ORPHA:206546
Dpm3-Cdg	Babinski sign, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle...	ORPHA:263494
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, External ophthalmoplegia, Tremor, Optic atrophy, Cerebral atrophy, Choreoathetosis, Cereb...	OMIM:619422
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk, Poor head control	OMIM:619561
Diamond-Blackfan Anemia 6	Macrocytic anemia, Short thumb, Persistence of hemoglobin F, Increased mean corpuscular volume, T...	OMIM:612561
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe jo...	OMIM:620310
Muscular Dystrophy, Limb-Girdle, Type 1H	Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy, Mu...	OMIM:613530
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Neck muscle hypertrophy, Unstead...	ORPHA:420492
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Distal muscle weakness, Glycogen accumulation in muscle fiber lysosomes,...	OMIM:300559
Bethlem Myopathy 2	Scapular winging, Proximal muscle weakness, Flexion contracture, Myopathy, Increased variability ...	OMIM:616471
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia, Hypomimic face	OMIM:128235
Friedreich Ataxia	Hand muscle atrophy, Impaired visually enhanced vestibulo-ocular reflex, Chorea, Babinski sign, I...	ORPHA:95
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Optic atro...	OMIM:617710
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Gowers sign, Flexion contracture, Muscle ...	OMIM:253700
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys...	OMIM:619738
Myoclonus, Intractable, Neonatal	Optic disc pallor, Chorea, Athetosis, Myoclonus, Increased variability in muscle fiber diameter, ...	OMIM:617235
Spastic Ataxia, Charlevoix-Saguenay Type	Peroneal muscle atrophy, Impaired vibration sensation in the lower limbs, Dysmetria, Pontine T2 h...	OMIM:270550
Autosomal Dominant Spastic Paraplegia Type 9A	Abnormality of the dorsal column of the spinal cord, Corpus callosum atrophy, Abnormal cerebellum...	ORPHA:447753
Mosaic Variegated Aneuploidy Syndrome 4	Abnormality of chromosome stability	OMIM:620153
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Global brain atrophy	OMIM:619132
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Ataxia, Muscle weakness	OMIM:618951
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr...	ORPHA:96
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow hypocellularity...	OMIM:619151
Brain Dopamine-Serotonin Vesicular Transport Disease	Poor head control, Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetrapare...	ORPHA:352649
Intellectual Developmental Disorder, X-Linked 104	Ataxia, Tremor, Optic atrophy, Spasticity, Cerebral cortical atrophy	OMIM:300983
Cap Myopathy	Poor head control, Facial palsy, Abnormal muscle fiber morphology, Fatiguable weakness of proxima...	ORPHA:171881
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Nephrocalcinosis, Decreased m...	OMIM:611590
Cln5 Disease	Cerebellar atrophy, Abnormal central motor function, Ataxia, Atrophy/Degeneration affecting the c...	ORPHA:228360
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor, Gait disturbance	OMIM:611808
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons, Skeletal muscle atrophy, Arthrogryposis multiplex congeni...	OMIM:253310
Congenital Myopathy 18	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Ophthalmoplegia...	OMIM:620246
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Poor head control, Nemaline bodies, Generalized muscle weakness, Increased variability in muscle ...	OMIM:620265
Spinocerebellar Ataxia 29	Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Limb ...	OMIM:117360
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Steppage gait, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign, Abnormal pyramidal sign, Impa...	ORPHA:352641
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl...	OMIM:137440
Methylcobalamin Deficiency Type Cble	Syndactyly, Macrocytic anemia, Pancytopenia, Abnormality of the liver, Increased mean corpuscular...	ORPHA:2169
Combined Oxidative Phosphorylation Defect Type 29	Optic neuropathy, Axonal degeneration, Poor coordination, Neurodegeneration, Myoclonic spasms, Di...	ORPHA:478029
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Neck flexor weakness, Facial palsy, Triceps weakness, Ankle weakness, We...	ORPHA:98913
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Fatty replacement of s...	OMIM:608807
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Cerebral atrophy, Dysmetria, Titubation	OMIM:619405
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Progressive distal muscle weakness, Progressive muscle weakness, Progressive...	OMIM:609452
Myopathy With Extrapyramidal Signs	Peripheral axonal neuropathy, Ataxia, Clonus, Proximal muscle weakness, Tremor, Gowers sign, Chor...	OMIM:615673
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo...	ORPHA:454887
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity	OMIM:616494
Japanese Encephalitis	Skeletal muscle atrophy, Tremor, Opisthotonus, Choreoathetosis, Hypertonia, Respiratory paralysis...	ORPHA:79139
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, Flexion contracture, Increased...	OMIM:607855
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra...	ORPHA:240103
Non-Specific Early-Onset Epileptic Encephalopathy	Poor head control, Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, ...	ORPHA:442835
Stxbp1-Related Encephalopathy	Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity	ORPHA:599373
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Multiple joint contractures, Generalized dystonia, Facial palsy,...	OMIM:128100
Immunodeficiency 96	Multicystic kidney dysplasia, Increased mean corpuscular volume, Increased proportion of gamma-de...	OMIM:619774
Spinocerebellar Ataxia Type 36	Skeletal muscle atrophy, Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, ...	ORPHA:276198
Cardiomyopathy, Dilated, 1X	Calf muscle hypertrophy, Gowers sign, Increased variability in muscle fiber diameter, Proximal mu...	OMIM:611615
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Respiratory insufficiency due to mu...	OMIM:608931
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness	OMIM:159050
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Spastic dysarthria, Blepharospasm, B...	ORPHA:240094
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, External ophth...	OMIM:255320
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Ophthalmoplegia, Optic atrophy, Myopathy, Gait disturbance, Increased variability in musc...	OMIM:125250
Hsd10 Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Frontotemporal cerebral atrophy, Choreoathetosis, Gait d...	ORPHA:391417
Inherited Creutzfeldt-Jakob Disease	Amyloidosis of peripheral nerves, Progressive extrapyramidal muscular rigidity, Spastic hemipares...	ORPHA:282166
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Congenital Myopathy 15	Waddling gait, Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability ...	OMIM:620161
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Progressive external ophthalmoplegia, Ataxia, Generalized muscle weakness, Ragged-red muscle fibe...	OMIM:613662
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop...	OMIM:255160
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Severe Neurodegenerative Syndrome With Lipodystrophy	Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop...	ORPHA:363400
Satoyoshi Syndrome	Tapered finger, Abnormality of the humerus, Abnormal femur morphology, Hypoplasia of the uterus, ...	ORPHA:3130
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic...	OMIM:617052
Familial Dyskinesia And Facial Myokymia	Resting tremor, Dystonia, Chorea, Myoclonus, Difficulty walking, Facial myokymia, Limb hypertonia	ORPHA:324588
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Proximal ...	OMIM:612999
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Distal muscle weakness, Multiple joint contractures, Babinski sign, Vestibular areflexia, Optic a...	ORPHA:504476
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Impaired proprioception, Dysmetria,...	ORPHA:99027
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dys...	OMIM:607694
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomoto...	OMIM:612438
Atypical Rett Syndrome	Total ophthalmoplegia, Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inabilit...	ORPHA:3095
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance, Dystonia, Spasticity...	ORPHA:542310
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Ataxia, Arachnodactyly, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, ...	OMIM:619092
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Chiari type I malformation, Bradykinesia, Dystonia	OMIM:617836
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Generalized muscle w...	ORPHA:171433
Tay-Sachs Disease	Skeletal muscle atrophy, Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Larynge...	ORPHA:845
Hypokalemic Periodic Paralysis	Abnormal muscle fiber morphology, Paralysis, Episodic flaccid weakness, Respiratory paralysis, In...	ORPHA:681
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Li...	OMIM:616812
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Autophagic vacuoles	OMIM:609500
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Skeletal muscle atrophy, Proximal muscle weakness, Ragged-red muscle fibers, ...	OMIM:616239
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Spinocerebellar Ataxia 8	Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi...	OMIM:608768
Oculopharyngodistal Myopathy 1	Distal muscle weakness, Autophagic vacuoles, Facial palsy, Ataxia, Proximal muscle weakness, Exte...	OMIM:164310
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Pr...	OMIM:620138
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Spasticity, Gait ataxia,...	ORPHA:247234
Central Core Disease	Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, M...	ORPHA:597
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Flexion contra...	OMIM:618484
Spinocerebellar Ataxia, Autosomal Recessive 7	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Ba...	OMIM:609270
Autosomal Recessive Spastic Paraplegia Type 9B	Skeletal muscle atrophy, Postural tremor, Corpus callosum atrophy, Babinski sign, Spastic gait, T...	ORPHA:447760
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Progressive muscle weakness, Ragged...	OMIM:607426
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine...	ORPHA:240085
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Progressive external ophthalmoplegia, Ataxia, Ragged-red muscle fibers, Slurred speech, Ophthalmo...	ORPHA:1349
Congenital Myopathy 4A, Autosomal Dominant	Bulbar palsy, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, R...	OMIM:255310
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Spastic tetraparesis, Tremor, Optic atrophy, Elbow flexion contracture	OMIM:619470
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Homocystinuria, Methylmalonic aciduria, Megaloblastic anemia	OMIM:277410
Combined Oxidative Phosphorylation Defect Type 13	Hip contracture, Poor head control, Ankle flexion contracture, Choreoathetosis, Lower limb hypert...	ORPHA:319514
Autosomal Recessive Centronuclear Myopathy	Waddling gait, Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal musc...	ORPHA:169186
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Br...	ORPHA:329284
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Somatic sensory dysfunction, Proximal muscle weakness, Tremor, Gowers sign, In...	ORPHA:502423
Angioedema, Hereditary, 1	Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration, Muscle weakness	OMIM:106100
Kufor-Rakeb Syndrome	Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski si...	OMIM:606693
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia	OMIM:614867
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Distal muscle weakness, Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated s...	OMIM:617072
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Poor head control, Myoclonus, Dystonia	OMIM:619651
Diamond-Blackfan Anemia 7	Macrocytic anemia, Horseshoe kidney, Increased mean corpuscular volume, Neutropenia, Vesicoureter...	OMIM:612562
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Waddling gait, Proximal muscle weakness, Chorea, Myopathy, Limb-girdle muscular dystrophy, Muscul...	ORPHA:369840
X-Linked Centronuclear Myopathy	Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Fatigable weakness of...	ORPHA:596
Epilepsy, Progressive Myoclonic, 6	Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation	OMIM:614018
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Proximal muscle weakness, Gowers sign, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Musc...	OMIM:613157
Optic Atrophy 11	Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, Facial diplegia, Athetosi...	OMIM:617302
Intellectual Developmental Disorder, Autosomal Recessive 48	Tremor, Inability to walk, Small hand, Waddling gait	OMIM:616269
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph...	OMIM:618060
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,...	ORPHA:206443
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki...	OMIM:300894
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficu...	ORPHA:529665
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Gowers sign, Flexion contracture, Proximal muscle weakness in lower limb...	OMIM:310440
4H Leukodystrophy	Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadoch...	ORPHA:289494
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplasia, Metaphys...	ORPHA:811
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Proximal muscle weakness, Prog...	OMIM:611588
Fragile X Tremor/Ataxia Syndrome	Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti...	OMIM:300623
Neuronal Intranuclear Inclusion Disease	Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Gait disturbance, Muscle weakness	OMIM:603472
Neuroferritinopathy	Resting tremor, Caudate atrophy, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, C...	ORPHA:157846
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Ataxia, Congenital diaphragmatic hernia, Progressive muscle weakness, Unstead...	OMIM:615919
Combined Oxidative Phosphorylation Deficiency 49	Progressive muscle weakness, Ragged-red muscle fibers, Difficulty walking	OMIM:619024
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Dystonia	OMIM:612126
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Spasticity, Choreoathetosis, Dyston...	OMIM:617664
Myopathy, Myofibrillar, 8	Scapular winging, Frequent falls, Centrally nucleated skeletal muscle fibers, Proximal muscle wea...	OMIM:617258
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Generalized muscle weakness, Increased variability in...	OMIM:611705
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Muscular Dystrophy, Congenital, Megaconial Type	Waddling gait, Facial palsy, Gowers sign, Myopathy, Muscular dystrophy, Increased endomysial conn...	OMIM:602541
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Bulbar palsy, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Opht...	OMIM:605809
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Waddling gait, Broad-based gait, Gowers sign, Calf muscle hypertrophy, Myopathy, Difficulty walki...	ORPHA:119
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Typical Nemaline Myopathy	Waddling gait, Neck flexor weakness, Facial palsy, Fatigable weakness of distal limb muscles, Fat...	ORPHA:171436
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Myelin outfoldings, Hand muscle weakness, Tremor, Inabil...	ORPHA:99956
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Distal muscle weakness, Tremor, Inability to walk, Cer...	OMIM:617988
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Progressive distal muscle weakness, Proximal muscle weakness, Fatty replacement of skeletal muscl...	ORPHA:397744
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Facial palsy, External ophthalmoplegia, Rigidity, Chorea, Babinski sign, Abnormal pyramidal sign,...	OMIM:607483
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Cerebral atrophy, G...	OMIM:618877
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Facial hypotonia, Ataxia, Parkinsonism, Tremor, Flexion contracture, Ba...	OMIM:300055
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ...	ORPHA:168563
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
X-Linked Emery-Dreifuss Muscular Dystrophy	Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficien...	ORPHA:98863
Developmental And Epileptic Encephalopathy 42	Ataxia, Tremor, Flexion contracture, Athetosis, Hypertonia	OMIM:617106
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Spinocerebellar atro...	ORPHA:95433
Combined Oxidative Phosphorylation Deficiency 28	Ragged-red muscle fibers, Muscle weakness	OMIM:616794
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Proximal musc...	OMIM:254090
Emery-Dreifuss Muscular Dystrophy	Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficien...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficien...	ORPHA:98853
Parkinson-Dementia Syndrome	Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Ophthalmoparesis	OMIM:260540
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Poor head control, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Respi...	ORPHA:486815
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit...	OMIM:312080
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Generalized cerebral ...	ORPHA:36387
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Peripheral axonal neuropathy, Centrally nucleated skelet...	ORPHA:169189
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Facial palsy, Respiratory insufficiency due to muscle weakness, Myopathy, Type 1 fibers relativel...	OMIM:300580
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi...	ORPHA:663
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Cerebral cortical atrop...	ORPHA:1020
16Q24.3 Microdeletion Syndrome	Proximal placement of thumb, Cryptorchidism, Hip dysplasia, Increased mean corpuscular volume, Th...	ORPHA:261250
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebellar atrophy, Speech apraxia, Waddling gait, Dystonia, Ataxia, Proximal muscle weakness, Tr...	OMIM:615356
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Skeletal muscle atrophy, Peripheral axonal neuropathy, Tapered finger, Tremor, Long fingers, Inab...	OMIM:218000
Spinocerebellar Ataxia Type 42	Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, B...	ORPHA:458803
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Muscle weakness, Abnormal muscle fiber protein expression	ORPHA:330054
Myasthenic Syndrome, Congenital, 6, Presynaptic	Bulbar palsy, Respiratory insufficiency due to muscle weakness, Ophthalmoparesis, Fatigable weakn...	OMIM:254210
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Az...	ORPHA:300298
Diamond-Blackfan Anemia	Acute myeloid leukemia, Hypospadias, Pure red cell aplasia, Absent thumb, Erythroid hypoplasia, S...	ORPHA:124
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Hypomimic face, Dystonia, Musc...	ORPHA:70594
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Peripheral axonal neuropathy, Spinal muscular atrophy, Flexion contractu...	OMIM:616867
Sialidosis Type 2	Skeletal muscle atrophy, Ataxia, Tremor, Flexion contracture, Muscle weakness	ORPHA:87876
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Bulbar palsy, Tremor, Calf muscle hypertrophy, Fasciculations, Limb muscle weakness	OMIM:313200
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f...	OMIM:615422
Myopathy, Mitochondrial, And Ataxia	Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal sensory impairment, Distal amyo...	OMIM:617675
Myopathy, Centronuclear, 5	Hip contracture, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmop...	OMIM:615959
Mitochondrial Dna Depletion Syndrome 11	Cerebellar atrophy, Progressive external ophthalmoplegia, Facial palsy, Ragged-red muscle fibers,...	OMIM:615084
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Abnormal rib morphology	OMIM:601076
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr...	ORPHA:254864
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal...	OMIM:618056
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Clonus, Flexion contracture, Brain atrophy, Muscle fiber atrophy, Cerebral cortical atrophy	OMIM:620240
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contrac...	ORPHA:98855
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone ma...	OMIM:127550
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb...	OMIM:261640
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Proximal muscle weakness, Proximal amyotrophy, Muscular dystrophy, Neck ...	OMIM:614302
Congenital Myasthenic Syndrome	Waddling gait, Bulbar palsy, Poor head control, Ataxia, Proximal muscle weakness, Intermittent ep...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Waddling gait, Bulbar palsy, Poor head control, Ataxia, Proximal muscle weakness, Intermittent ep...	ORPHA:98914
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Tremor, Inability to walk, Brain atrophy, Spasticity, Muscle weakness	OMIM:618718
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Ga...	OMIM:615530
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia	OMIM:278780
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,...	ORPHA:101
Dominant Beta-Thalassemia	Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con...	ORPHA:231226
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Optic atrophy, Dysmetria, Gait ataxi...	OMIM:614381
Congenital Disorder Of Glycosylation, Type Ie	Short palm, Ataxia, Ankle flexion contracture, Tremor, Small hand, Upper limb undergrowth, Optic ...	OMIM:608799
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit...	ORPHA:99750
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal synostosis, Short t...	OMIM:609441
Autosomal Dominant Progressive External Ophthalmoplegia	Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Ataxia, Fa...	ORPHA:254892
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
East Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Inability to walk, Peripheral hypomyeli...	ORPHA:199343
Beta-Thalassemia Major	Hepatomegaly, Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular ...	ORPHA:231214
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia	OMIM:616959
Satoyoshi Syndrome	Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, Genu valgum,...	OMIM:600705
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Poor head control, Intermittent episode...	ORPHA:324604
Multiple System Atrophy 1, Susceptibility To	Skeletal muscle atrophy, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neu...	OMIM:146500
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Cerebellar atrophy, Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle...	ORPHA:352447
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Seckel Syndrome 7	Abnormal carpal morphology, Hypoplasia of the uterus, Hip dysplasia, Clinodactyly of the 5th fing...	OMIM:614851
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia	OMIM:233910
Diamond-Blackfan Anemia 1	11 pairs of ribs, Macrocytic anemia, Congenital hypoplastic anemia, Absent thumb, Short thumb, Hy...	OMIM:105650
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Eyelid myoclonus	OMIM:616421
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Dilated fourth ventricle, Poor head control, Cerebellar vermis hypoplasia, At...	ORPHA:572798
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cerebellar edema, Torticollis, Ataxia, Tremor, Myelopathy, Rigidity, Cervical myelopathy, Tetrapa...	OMIM:617186
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Waddling gait, Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy,...	OMIM:310300
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Distal lower limb amyotrophy, Sandal gap, Tremor, Small hand, Gait ataxia, Short foot, Macrogloss...	OMIM:300354
Synaptic Congenital Myasthenic Syndromes	Waddling gait, Skeletal muscle atrophy, Scapular winging, Poor head control, Distal muscle weakne...	ORPHA:98915
Premature Ovarian Failure 7	Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy	OMIM:612964
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers	OMIM:618992
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia	OMIM:619556
Congenital Myopathy 22A, Classic	Waddling gait, Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Ext...	OMIM:620351
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Flexion contracture, Axial muscle weakness, Arthrogryposis multiplex congenita, Clinodactyly, Inc...	ORPHA:178148
Neurodegeneration With Brain Iron Accumulation 1	Decreased muscle mass, Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Ataxia, ...	OMIM:234200
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Optic disc pallor, Tremor, Hypoesthesia, Hemiparesis, Hypertonia, L...	OMIM:619737
Mohr-Tranebjaerg Syndrome	Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnorm...	ORPHA:52368
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Centrally nucleated skeletal muscle fibers, Progressive muscle weakness, Loss of ambulation, Skel...	OMIM:619518
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Tremor, Hypertonia, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atr...	ORPHA:1192
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki...	ORPHA:363654
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Generalized amyotroph...	OMIM:613561
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Limb joint contracture, Tremor, Cerebellar hypo...	OMIM:620327
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine...	ORPHA:240071
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Ataxia, Tremor, Rhabdomyolysis, Myopathy, Muscle weakness	ORPHA:713
Benign Samaritan Congenital Myopathy	Internally nucleated skeletal muscle fibers, Fasciculations, Centrally nucleated skeletal muscle ...	ORPHA:324581
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl...	OMIM:602481
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,...	OMIM:614841
Sneddon Syndrome	Tremor, Chorea, Hemiparesis, Muscle weakness	ORPHA:820
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased muscle mass, Distal muscle weakness, Peripheral axonal neuropathy, External ophthalmopl...	ORPHA:298
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Preaxia...	OMIM:175700
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Cerebellar vermis hypoplasia, Ankle flexion contracture, Respiratory insufficiency due to muscle ...	OMIM:619461
Developmental And Epileptic Encephalopathy 46	Tremor, Cerebral atrophy, Limb hypertonia	OMIM:617162
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Parkinsonism, Temporal cortical atrophy, Frontotemporal c...	ORPHA:100070
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Ophthalmoplegia, Ragged-red muscle fibers, Hemiparesis, Myopathy, Left ventricular hypertrophy	OMIM:540000
Caribbean Parkinsonism	Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, P...	ORPHA:97355
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Overlapping toe, Tremor, Ophthalmoplegia, EMG: myopathic abnormalities, Muscle weakness	ORPHA:457365
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor	OMIM:614307
Progressive Supranuclear Palsy	Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Supranuclear ophthalmoplegia, Falls...	ORPHA:683
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Peripheral axonal neuropathy, Spinal muscular atrophy, Flexion contracture, Increased variability...	OMIM:616866
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Metaphyseal chondrodysplasia, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-to...	ORPHA:83629
Perrault Syndrome 3	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:614129
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,...	OMIM:614837
Ataxia-Telangiectasia	Skeletal muscle atrophy, Ataxia, Tremor, Gait disturbance, Spasticity	ORPHA:100
Sialidosis Type 1	Skeletal muscle atrophy, Ataxia, Tremor, Slurred speech, Gait disturbance, Myoclonus, Muscle weak...	ORPHA:812
Kanzaki Disease	Peripheral axonal neuropathy, Distal muscle weakness, Axonal degeneration, Cerebral atrophy, Dist...	OMIM:609242
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Scapular winging, Clonus, Small thenar eminence, Distal lower limb muscle weakness, Tendon ruptur...	OMIM:620080
Xeroderma Pigmentosum, Complementation Group F	Tremor, Flexion contracture, Ataxia, Brain atrophy	OMIM:278760
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Hydatidiform Mole	Enlarged uterus, Anemia	ORPHA:99927
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Skeletal muscle atrophy, Dysmetria	OMIM:615578
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Osteolytic defects of the middle phalanx...	ORPHA:765
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Fatiguable weakness of proximal limb muscles...	ORPHA:206569
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc...	OMIM:226670
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S...	ORPHA:57
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Brachydactyly	ORPHA:247768
Premature Ovarian Failure 13	Hypoplasia of the uterus	OMIM:617442
Ovarian Dysgenesis 5	Hypoplasia of the uterus	OMIM:617690
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Cerebral atrophy, Myopathy, Brain atrophy, Limb dystonia, Increased variabili...	OMIM:604377
King-Denborough Syndrome	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Type 1 muscle fiber predomi...	OMIM:619542
Amyloidosis, Hereditary, Transthyretin-Related	Peripheral axonal neuropathy, Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, H...	OMIM:105210
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary	OMIM:612310
Developmental And Epileptic Encephalopathy 4	Tremor, Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Choreoathetosis	OMIM:612164
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Ataxia, Rhizomelia, Tremor, Flexion contracture, Cerebral atrophy, Opisthoton...	OMIM:616271
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Distal muscle weakness, Rhabdomyolysis, Ophthalmoparesis, Myopathy, Incr...	OMIM:255125
Sneddon Syndrome	Tremor, Hemiplegia, Facial palsy, Impaired distal tactile sensation	OMIM:182410
Aceruloplasminemia	Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, C...	ORPHA:48818
Creatine Phosphokinase, Elevated Serum	Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa...	OMIM:123320
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Saccharopinuria	Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia	ORPHA:3124
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619665
Choreoacanthocytosis	Caudate atrophy, Peroneal muscle atrophy, Chorea, Hypertonia, Limb dystonia, Muscle fiber atrophy...	ORPHA:2388
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Optic disc pallor, Respiratory insufficiency due to muscle weakness, Pro...	OMIM:615512
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619203
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology	ORPHA:93941
Spontaneous Periodic Hypothermia	Tremor, Ataxia, Gait disturbance	ORPHA:29822
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ...	ORPHA:432
Neutral Lipid Storage Myopathy	Progressive distal muscle weakness, Hand muscle weakness, Fatty replacement of skeletal muscle, G...	ORPHA:98908
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph...	OMIM:616470
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Axial muscle weaknes...	ORPHA:171430
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Neuronal loss in central ...	OMIM:168600
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Supranuclear Palsy, Progressive, 1	Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral...	OMIM:601104
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Neuromuscular Oculoauditory Syndrome	Poor head control, Unsteady gait, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber...	OMIM:618733
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o...	ORPHA:325124
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait...	OMIM:168601
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ...	OMIM:615418
Perrault Syndrome 4	Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary	OMIM:615300
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Bifid distal phalanx of the thumb, Hypoplasia of the uterus, Hypoplastic labia ...	OMIM:618419
Kearns-Sayre Syndrome	Progressive external ophthalmoplegia, Ragged-red muscle fibers, Ataxia, Muscle weakness	OMIM:530000
Myasthenic Syndrome, Congenital, 19	Bulbar palsy, Poor head control, Distal muscle weakness, Facial palsy, Proximal muscle weakness, ...	OMIM:616720
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Optic atrophy, Cerebral atrophy, Head ...	ORPHA:314404
Castleman Disease	Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Jaundice, Lymph...	ORPHA:160
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Microvesicular hepatic steatosis, ...	OMIM:618278
Meckel Syndrome 12	Hypoplasia of the uterus, Vaginal atresia, Rocker bottom foot	OMIM:616258
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology, Ophthalmoparesis, Clinod...	ORPHA:3068
Genetic Recurrent Myoglobinuria	Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Fatiga...	ORPHA:99845
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen...	OMIM:154230
Tick-Borne Encephalitis	Speech apraxia, Skeletal muscle atrophy, Somatic sensory dysfunction, Abnormal medulla oblongata ...	ORPHA:297
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Caudate atrophy, Cerebellar vermis hypoplasia, Exaggerated startle resp...	OMIM:615574
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Scapular winging, Gowers sign, Progressive muscle weakness, Ragged-red muscle fibers, Generalized...	OMIM:600462
Microphthalmia, Syndromic 9	Cryptorchidism, Multilobulated spleen, Hypoplasia of the uterus, Bicornuate uterus, Neonatal deat...	OMIM:601186
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Cerebral atrophy, Type 2 muscle fiber predom...	OMIM:615471
Arthrogryposis Multiplex Congenita 6	Akinesia, Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multipl...	OMIM:619334
Overlap Myositis	Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Proximal mu...	ORPHA:206572
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Inability to walk, Flexion contracture, Macr...	ORPHA:258
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Facial palsy, Clonus, Tremor, Generalized muscle weakness, Type 1 fibers relatively smaller than ...	OMIM:619424
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Impaired vibratory sensation, Decreased muscle mass, Peripheral axonal neuropathy, Generalized mu...	ORPHA:1900
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Short humerus, Short femur, Ragged-red muscle fibers, Flexion contractur...	ORPHA:17
Hypotonia-Cystinuria Syndrome	Ragged-red muscle fibers, Facial palsy, Muscle weakness	OMIM:606407
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Segmental peripheral demyelination/remyelination, Chorea, Ragged-red muscle fibers, Optic...	ORPHA:255210
Wolfram Syndrome 1	Ataxia, Tremor, Optic atrophy, Limited mobility of proximal interphalangeal joint, Cerebral atrophy	OMIM:222300
Melas	Progressive external ophthalmoplegia, Peripheral axonal neuropathy, Abnormal central motor functi...	ORPHA:550
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Thyrotoxic Periodic Paralysis	Abnormal muscle fiber morphology, Tremor, Paralysis, Rhabdomyolysis, Tetraplegia, Ophthalmoparesi...	ORPHA:79102
Chediak-Higashi Syndrome	Foot dorsiflexor weakness, Ataxia, Tremor, Neurodegeneration, Gait disturbance, Muscle weakness	OMIM:214500
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Generalized muscle weakness, ...	OMIM:620278
Mitochondrial Complex I Deficiency, Nuclear Type 1	Cerebellar atrophy, Skeletal muscle atrophy, Poor head control, Optic disc pallor, Ataxia, Optic ...	OMIM:252010
Snakebite Envenomation	Paralysis, Rhabdomyolysis, Pseudobulbar paralysis, Respiratory paralysis, Muscle fiber necrosis	ORPHA:449285
Combined Oxidative Phosphorylation Deficiency 12	Poor head control, Spastic tetraparesis, Ophthalmoplegia, Babinski sign, Ragged-red muscle fibers...	OMIM:614924
Danon Disease	Myocardial necrosis, Distal muscle weakness, Proximal muscle weakness, Lower limb amyotrophy, EMG...	OMIM:300257
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Vaginal atresia	OMIM:617914
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Ataxia, Blepharospasm, Myoclonus	OMIM:607876
Scleroderma, Familial Progressive	Chromosome breakage, Abnormality of chromosome stability	OMIM:181750
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Delayed epiphyseal ossification, Hypoplasia of the uterus	ORPHA:785
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga...	OMIM:613280
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Hypoplasia of the uterus, Clinodactyly, Short distal phalanx of finger	OMIM:615866
12Q14 Microdeletion Syndrome	Skeletal muscle atrophy, Tremor, Syringomyelia, Chiari malformation, Clinodactyly of the 5th finger	ORPHA:94063
Joubert Syndrome	Cerebellar vermis hypoplasia, Ataxia, Tremor, Hand polydactyly, Gait disturbance, Foot polydactyl...	ORPHA:475
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Olivopontocer...	OMIM:212065
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Hypoplasia of the pons, Flexion contracture, Optic atrophy, Muscular dystrophy, Cerebellar hypopl...	OMIM:613154
Polymyositis	Gait disturbance, Proximal muscle weakness, Abnormal muscle fiber morphology	ORPHA:732
Joubert Syndrome With Renal Defect	Cerebellar vermis hypoplasia, Ataxia, Tremor, Hand polydactyly, Gait disturbance, Oculomotor apraxia	ORPHA:220497
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content, Muscle weakness	ORPHA:228302
Niemann-Pick Disease Type C	Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Limb dystonia, Intention tremor...	ORPHA:646
Glycogen Storage Disease Xv	Scapular winging, Muscle weakness, Type 1 muscle fiber predominance	OMIM:613507
Glutaryl-Coa Dehydrogenase Deficiency	Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athet...	ORPHA:25
Congenital Bile Acid Synthesis Defect Type 4	Tremor, Rhabdomyolysis, Ataxia	ORPHA:79095
Autosomal Dominant Optic Atrophy And Cataract	Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal muscular rigidity...	ORPHA:67036
Estrogen Resistance	Hypoplasia of the uterus, Polycystic ovaries	OMIM:615363
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie...	ORPHA:90796
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Cerebellar atrophy, Congenital diaphragmatic hernia, Tremor, Cerebral atrophy, Choreoathetosis, S...	OMIM:614080
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Joubert Syndrome With Ocular Defect	Cerebellar vermis hypoplasia, Ataxia, Tremor, Hand polydactyly, Gait disturbance, Foot polydactyl...	ORPHA:220493
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait	OMIM:168605
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Arachnodactyly, Type 1 muscle fiber atrophy, Cerebral atrophy, Type 2 muscle fiber predominance, ...	OMIM:619036
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Eisenmenger Syndrome	Hepatomegaly, Clubbing, Hypochromic microcytic anemia, Iron deficiency anemia, Abnormality of the...	ORPHA:97214
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Progressive external ophthalmoplegia, Distal muscle weakness, Hypoesthesia, Ragged-red muscle fib...	OMIM:603041
Congenital Fiber-Type Disproportion Myopathy	Progressive muscle weakness, Flexion contracture, Knee flexion contracture, Foot dorsiflexor weak...	ORPHA:2020
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Diffuse cerebral atrophy, Poor head control, Tremor, Choreoathetosis, Myoclon...	ORPHA:1934
Native American Myopathy	Skeletal muscle atrophy, Inability to walk, Abnormality of skeletal muscle fiber size, Congenital...	ORPHA:168572
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Flexion contracture, Genera...	OMIM:613327
Acute Intermittent Porphyria	Proximal muscle weakness in upper limbs, Somatic sensory dysfunction, Distal muscle weakness, Tre...	ORPHA:79276
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Abnormal cerebellum morphology, Kinetic tremor	OMIM:190310
46,Xy Sex Reversal 11	Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem...	OMIM:273250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Poor head control, Cerebellar vermis hypoplasia, Muscular dystrophy, Increased variability in mus...	OMIM:616538
Ehlers-Danlos Syndrome, Classic-Like	Proximal amyotrophy, Proximal muscle weakness, Muscle fiber splitting	OMIM:606408
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p...	OMIM:274000
Alexander Disease	Ataxia, Clonus, Facial palsy, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Gait disturba...	ORPHA:58
Metachromatic Leukodystrophy	Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive...	ORPHA:512
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P...	ORPHA:90797
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ...	ORPHA:99429
Combined Oxidative Phosphorylation Deficiency 3	Ataxia, Optic neuropathy, Tremor, Rhabdomyolysis, Optic atrophy, Dystonia, Muscle weakness	OMIM:610505
Combined Oxidative Phosphorylation Deficiency 15	Optic disc pallor, Incoordination, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Small ...	OMIM:614947
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Femoral bowing, Micropenis, Arachnodactyly, Hyp...	OMIM:201750
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bowing of the long bones, Ataxia, Tremor, Metaphyseal sclerosis, Abnormal pyramidal sign, Optic a...	OMIM:612199
Dpagt1-Cdg	Ataxia, Arachnodactyly, Akinesia, Tremor, Abnormal cerebellum morphology, Inability to walk, Flex...	ORPHA:86309
Chédiak-Higashi Syndrome	Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Parkinsonism, Tremor, Atrophy of the spi...	ORPHA:167
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebellar atrophy, Ataxia, Ragged-red muscle fibers, Rhabdomyolysis, Cerebral atrophy, Spasticit...	OMIM:124000
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Tremor, Babinski sign, 2-3 toe syndactyly, Hypertonia, Brain atrophy, Spasticity, Muscle weakness	OMIM:616539
Renal Cysts And Diabetes Syndrome	Hypospadias, Biliary tract abnormality, Hypoplasia of the uterus, Bicornuate uterus, Epididymal c...	OMIM:137920
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib...	OMIM:616503
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy	OMIM:309801
Lethal Congenital Contracture Syndrome 5	Congenital contracture, Flexion contracture, Centrally nucleated skeletal muscle fibers	OMIM:615368
Familial Partial Lipodystrophy, Dunnigan Type	Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size	ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy	Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus...	ORPHA:79083
Myasthenia, Limb-Girdle, Autoimmune	Fatigable weakness, Type 2 muscle fiber atrophy, Ophthalmoparesis, Proximal amyotrophy	OMIM:159400
Myotubular Myopathy With Abnormal Genital Development	Myopathy, Centrally nucleated skeletal muscle fibers	OMIM:300219
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Blepharophimosis, Ptosis, And Epicanthus Inversus	Hypoplasia of the uterus	OMIM:110100
Peters-Plus Syndrome	Syndactyly, Short metacarpal, Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Proxim...	OMIM:261540
Woodhouse-Sakati Syndrome	Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ...	OMIM:241080
Woodhouse-Sakati Syndrome	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal spermatogenesi...	ORPHA:3464
Glycogen Storage Disease Xii	Myopathy, Increased variability in muscle fiber diameter, Muscle weakness, Muscle fiber splitting	OMIM:611881
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Missing ribs, Absent external genitalia, Rib fusion, Thin ribs, Aplasia of the vagina, Short ribs...	OMIM:271520
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Hypoplasia of penis, Aplasia of the ulna, Cryptorchidism...	ORPHA:2879
Oxoglutaric Aciduria	Abnormality of Krebs cycle metabolism	ORPHA:31
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Femoral bowing, Anteriorly displaced genitalia, Foot oligodactyly, Aplasia/Hypopla...	OMIM:276820
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the...	OMIM:158330
African Trypanosomiasis	Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,...	ORPHA:3385
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia...	OMIM:619879
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst...	ORPHA:90793
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus	OMIM:266810
Peters Plus Syndrome	Toe syndactyly, Hypospadias, Cryptorchidism, Short toe, Short foot, Hypoplasia of the uterus, Cli...	ORPHA:709
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr...	ORPHA:168558
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:572333
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr...	ORPHA:289548
Oeis Complex	11 pairs of ribs, Congenital hip dislocation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous...	OMIM:258040
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen...	ORPHA:83628
Fanconi Anemia, Complementation Group L	Absent thumb, Absent radius, Bone marrow hypocellularity, Aplasia of the uterus, Micropenis, Anemia	OMIM:614083
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va...	OMIM:303600
Craniorachischisis	Bifid sternum	ORPHA:63260
Wolf-Hirschhorn Syndrome	Accessory spleen, Rib segmentation abnormalities, Pseudoepiphyses of the metacarpals, Hypospadias...	OMIM:194190
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina	OMIM:146255
Primary Triglyceride Deposit Cardiomyovasculopathy	Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali...	ORPHA:565612
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Bifid uterus, Preaxial hand polydactyly, Postaxial hand polydactyl...	OMIM:236680
Chromosome 17Q12 Deletion Syndrome	Long toe, Long fingers, Cryptorchidism, Upper limb undergrowth, Short foot, Ovarian cyst, Aplasia...	OMIM:614527
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Postaxial polydactyly, Hip dysplasia, Aplasia of the vagina, Aplasia of the uterus,...	ORPHA:457284
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Premature pubarche, Hypogonadotropic hypogonadism, Abnormal external genitali...	ORPHA:90794
Singleton-Merten Syndrome 1	Waddling gait, Hypoplastic distal radial epiphyses, Coxa valga, Osteolytic defects of the phalang...	OMIM:182250
Townes-Brocks Syndrome 1	Bifid scrotum, Short metatarsal, Triphalangeal thumb, 2-4 finger syndactyly, Hypospadias, Bifid u...	OMIM:107480
Townes-Brocks Syndrome 2	Rectovaginal fistula, Hypospadias, Bifid uterus	OMIM:617466
Cardiac-Urogenital Syndrome	Accessory spleen, Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Hepatopulmonary fusio...	OMIM:618280
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Aplasia of the uterus, Aplasia of th...	ORPHA:69085
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Syndactyly, Unilateral brachydactyly, Bifid uterus	ORPHA:1521
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Bifid uterus, Long fingers, Cryptorchidism...	OMIM:256520
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Aplasia of the uterus, Vaginal atresia, Uterus didelphys, Septate vagina	ORPHA:2237
Ehlers-Danlos Syndrome, Vascular Type	Cryptorchidism, Cystocele, Foot acroosteolysis, Osteolytic defects of the phalanges of the hand, ...	OMIM:130050
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Exstrophy-Epispadias Complex	Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab...	ORPHA:322
Pallister-Killian Syndrome	11 pairs of ribs, Congenital hip dislocation, Hypospadias, Small scrotum, Cryptorchidism, Postaxi...	OMIM:601803

Histopathology

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

Phenotype	Allele	Zygosity	Life Stage
Sciatic nerve - MPATH pathological process term vacuolation	Sacs^em1(IMPC)Tcp	HOM	Early adult
Brain - MPATH pathological process term atrophy	Sacs^em1(IMPC)Tcp	HOM	Early adult
Spinal cord - MPATH pathological process term depletion	Sacs^em1(IMPC)Tcp	HOM	Early adult
Sciatic nerve - MPATH pathological process term dysplasia	Sacs^em1(IMPC)Tcp	HOM	Early adult
Spinal cord - MPATH pathological process term hydropic degeneration	Sacs^em1(IMPC)Tcp	HOM	Early adult

IMPC related publications

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

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Sacs R272C missense homozygous mice develop an ataxia phenotype.	Molecular brain (March 2019)	Sacs^{tm1(NCOM)Mfgc}	PMC6416858
Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS.	The Journal of physiology (July 2018)	Sacs^{tm1(NCOM)Mfgc}	29928778
Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin.	Human molecular genetics (August 2017)	Sacs^{tm1(NCOM)Mfgc}	PMC5886247
Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay.	Human molecular genetics (September 2014)	Sacs^{tm1(NCOM)Mfgc}	PMC4291249
Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).	Proceedings of the National Academy of Sciences of the United States of America (January 2012)	Sacs^{tm1(NCOM)Mfgc}	PMC3277168

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

MGI Allele	Allele Type	Produced
Sacs^em1(IMPC)Tcp	Exon Deletion	Mice
Sacs^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Sacs MGI:1354724

Gene Summary

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lacZ Expression

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X-ray

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Immunophenotyping

Human diseases caused by Sacs mutations

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IMPC related publications

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