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Gene: Coq9 MGI:1915164

Gene Summary

Name:

coenzyme Q9

Synonyms:

2310005O14Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No 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.

No results meet the p-value threshold

Select physiological systems to view:

Viewing: all phenotypes

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	Not available
Blood vessel	N/A	heterozygote	100% (2 of 2)
Bone	N/A	heterozygote	100% (2 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	100% (2 of 2)
Cartilage tissue	N/A	heterozygote	100% (2 of 2)
Cerebellum	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Eye	N/A	heterozygote	100% (2 of 2)
Gall bladder	N/A	heterozygote	100% (2 of 2)
Heart	N/A	heterozygote	100% (2 of 2)
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	100% (2 of 2)
Lower urinary tract	N/A	heterozygote	100% (2 of 2)
Lung	N/A	heterozygote	100% (2 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	50% (1 of 2)
Esophagus	N/A	heterozygote	100% (2 of 2)
Olfactory lobe	N/A	heterozygote	Not available
Ovary	N/A	heterozygote	50% (1 of 2)
Oviduct	N/A	heterozygote	50% (1 of 2)
Pancreas	N/A	heterozygote	100% (2 of 2)
Parathyroid gland	N/A	heterozygote	100% (2 of 2)
Peripheral nervous system	N/A	heterozygote	100% (2 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	100% (2 of 2)
Prostate gland	N/A	heterozygote	50% (1 of 2)
Skeletal muscle tissue	N/A	heterozygote	100% (2 of 2)
Skin	N/A	heterozygote	100% (2 of 2)
Small intestine	N/A	heterozygote	100% (2 of 2)
Spinal cord	N/A	heterozygote	50% (1 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	100% (2 of 2)
Striatum	N/A	heterozygote	Not available
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	100% (2 of 2)
Trachea	N/A	heterozygote	100% (2 of 2)
Uterus	N/A	heterozygote	50% (1 of 2)
White adipose tissue	N/A	heterozygote	Ambiguous

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood vessel
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images

Coq9^{tm1a(KOMP)Wtsi}
forearm, WT, Female, WTSI

Coq9^{tm1a(KOMP)Wtsi}
head, WT, Female, WTSI

Coq9^{tm1a(KOMP)Wtsi}
body, HOM, Male, WTSI

Coq9^{tm1a(KOMP)Wtsi}
head, HOM, Male, WTSI

Coq9^{tm1a(KOMP)Wtsi}
body, HOM, Male, WTSI

View all 101 images

Coq9^{tm1a(KOMP)Wtsi}
WT, Female, WTSI

Coq9^{tm1a(KOMP)Wtsi}
eye, abnormal retinal pigmentation, HOM, Male, WTSI

Coq9^{tm1a(KOMP)Wtsi}
eye, narrow eye opening, HOM, Male, WTSI

Coq9^{tm1a(KOMP)Wtsi}
eye, abnormal retinal pigmentation, HOM, Male, WTSI

Coq9^{tm1a(KOMP)Wtsi}
back skin, HOM, Female, WTSI

Human diseases caused by Coq9 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 Coq9 (1 diseases)
Human diseases predicted to be associated with Coq9 (935 diseases)

The table below shows human diseases associated to Coq9 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Coenzyme Q10 Deficiency, Primary, 5		Cerebellar atrophy, Cerebral atrophy, Hypertonia, Left ventricular hypertrophy, Decreased level o...	OMIM:614654

The table below shows human diseases predicted to be associated to Coq9 by phenotypic similarity.

Disease	Matching phenotypes	Source
Familial Infantile Bilateral Striatal Necrosis	Gait ataxia, Choreoathetosis, Upper limb muscle weakness, Hypertonia, Atrophy/Degeneration involv...	ORPHA:225154
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Broad-based gait...	OMIM:614895
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Clumsiness, Cardiomyopat...	ORPHA:603
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal...	OMIM:617672
Peroxisome Biogenesis Disorder 8B	Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Loss of ambulation, Ataxia, Limb trem...	OMIM:614877
Klhl9-Related Early-Onset Distal Myopathy	Peripheral axonal neuropathy, Ankle flexion contracture, Amyotrophy of ankle musculature, Intrins...	ORPHA:399081
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Peripheral axonal degeneration, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,...	ORPHA:101097
Spinocerebellar Ataxia Type 43	Peripheral axonal neuropathy, Foot dorsiflexor weakness, Decreased number of large peripheral mye...	ORPHA:497764
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Foot dorsiflexor weakness, Segmental peripheral demyelination/remyelination, Thenar muscle atroph...	OMIM:606483
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Parkinsonism, Corpus callosum atrophy, Rigidity, Bradykinesia, Gliosis, Gait disturbance, Shuffli...	OMIM:221820
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Tetrapl...	OMIM:604484
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Distal lower limb muscle weakness, Fatty replacement of skeletal muscle, Babinski sign, Hand trem...	OMIM:618279
L-2-Hydroxyglutaric Aciduria	Cerebellar atrophy, Ataxia, Spastic tetraparesis, Severe demyelination of the white matter, Corpu...	OMIM:236792
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Lower limb muscle weakness, Angulated muscle fibers, Decreased number of large peripheral myelina...	OMIM:608340
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Skeletal muscle atrophy, Peripheral axonal neuropathy, Steppage gait, Limb muscle weakness, Onion...	OMIM:620378
Mitochondrial Myopathy With Diabetes	Ataxia, Elevated circulating creatine kinase concentration, Facial palsy, Babinski sign, Ragged-r...	OMIM:500002
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Babinski sign, Cerebral atrophy, Axonal loss, Gait disturbance, Gliosis, Myoclon...	OMIM:221770
Inherited Creutzfeldt-Jakob Disease	Amyloidosis of peripheral nerves, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal py...	ORPHA:282166
Myopathy, Myofibrillar, 5	Waddling gait, Elevated circulating creatine kinase concentration, Abnormal peripheral nervous sy...	OMIM:609524
Gne Myopathy	Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula...	ORPHA:602
Charcot-Marie-Tooth Disease, Type 4H	Waddling gait, Decreased number of peripheral myelinated nerve fibers, Distal lower limb amyotrop...	OMIM:609311
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Foot dorsif...	OMIM:118210
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased number of peripheral myelinated nerve fibers, Foot dorsiflexor weakness, Tremor, Babins...	OMIM:609260
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Gliosis, Myoclonu...	ORPHA:204
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Elevated ...	OMIM:167320
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Steppage gait, Myelin ...	OMIM:118200
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Segmental peripheral de...	OMIM:145900
Spastic Paraplegia 55, Autosomal Recessive	Lower limb spasticity, Peripheral axonal neuropathy, Tibialis anterior muscle atrophy, Lower limb...	OMIM:615035
Roussy-Levy Hereditary Areflexic Dystasia	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Upper limb postural...	OMIM:180800
Nemaline Myopathy 6	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Myopathy, Gait distu...	OMIM:609273
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Distal lower limb amyotrophy, Steppage gait, Distal upper limb amyotrophy, Axonal regeneration, D...	OMIM:615185
Tibial Muscular Dystrophy	Centrally nucleated skeletal muscle fibers, Peroneal muscle atrophy, Quadriceps muscle weakness, ...	ORPHA:609
Huntington Disease	Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in centra...	OMIM:143100
Nonaka Myopathy	Elevated circulating creatine kinase concentration, Distal amyotrophy, Gait disturbance, EMG: myo...	OMIM:605820
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Steppage gait, Onion bulb formation, Foot dorsiflexor weakness	OMIM:616039
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Unsteady gait, Gait ataxia, Acute demyelinating polyneuropathy, Distal lower limb muscle weakness...	ORPHA:98916
Spinocerebellar Ataxia 17	Cerebellar atrophy, Broad-based gait, Diffuse cerebral atrophy, Ataxia, Parkinsonism, Rigidity, C...	OMIM:607136
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Steppage gait, Axonal ...	OMIM:607731
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Decreased number of peripheral myelinated nerve fibers, Upper limb muscle weakness, Distal amyotr...	OMIM:607677
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel...	OMIM:118220
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Rigidity, Babinski sign, Astrocytosis, Gait disturbance, Myoclonus, Neuronal loss in central nerv...	OMIM:600795
Charcot-Marie-Tooth Disease, Type 4A	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop...	OMIM:214400
Childhood-Onset Nemaline Myopathy	Waddling gait, Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized...	ORPHA:171439
Congenital Myopathy With Myasthenic-Like Onset	Scapular winging, Multiple joint contractures, Elevated circulating creatine kinase concentration...	ORPHA:424107
Spinocerebellar Ataxia, Autosomal Recessive 27	Spastic ataxia, Cerebellar atrophy, Torticollis, Gait ataxia, Lower limb hypertonia, Gliosis, Gai...	OMIM:618369
Subacute Inflammatory Demyelinating Polyneuropathy	Symmetric peripheral demyelination, Demyelinating motor neuropathy, Tremor, Choreoathetosis, Abno...	ORPHA:206594
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Null Syndrome	Ataxia, Inability to walk, Optic atrophy, CNS hypomyelination, Progressive spastic quadriplegia, ...	ORPHA:280234
Charcot-Marie-Tooth Disease Type 2B1	Hand muscle atrophy, Peroneal muscle atrophy, Hand muscle weakness, Axonal degeneration, Axonal l...	ORPHA:98856
Autosomal Spastic Paraplegia Type 58	Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr...	ORPHA:397946
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Trem...	ORPHA:276435
Autosomal Recessive Progressive External Ophthalmoplegia	Cerebellar atrophy, Scapular winging, Ataxia, Facial palsy, Elevated circulating creatine kinase ...	ORPHA:254886
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Elevated circulating creati...	ORPHA:178464
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Gliosis, Spas...	OMIM:213200
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal musc...	OMIM:608358
Adult-Onset Nemaline Myopathy	Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Bradykinesia, Poor f...	ORPHA:171442
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Slurred speech, Clumsiness...	ORPHA:2386
Chronic Inflammatory Demyelinating Polyneuropathy	Segmental peripheral demyelination/remyelination, Hand muscle weakness, Unsteady gait, Falls, Dif...	ORPHA:2932
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Gliosis	OMIM:300857
Neuropathy, Hereditary Motor And Sensory, Russe Type	Distal lower limb amyotrophy, Claw hand deformity, Paralysis, Decreased number of large periphera...	OMIM:605285
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Cerebella...	OMIM:302800
Dna2-Related Mitochondrial Dna Deletion Syndrome	Multiple joint contractures, Limb-girdle muscle weakness, Myopathy, Gait disturbance, Difficulty ...	ORPHA:352470
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Ataxia, Segmental peripheral demyelination/remyelination, Gait ataxia, Distal amyotrophy, Onion b...	OMIM:601098
Huntington Disease-Like 1	Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Wei...	ORPHA:157941
Charcot-Marie-Tooth Disease Type 4G	Peripheral axonal neuropathy, Upper limb amyotrophy, Distal amyotrophy, Gait imbalance, Difficult...	ORPHA:99953
Myopathy, Distal, With Anterior Tibial Onset	Loss of ambulation, Myopathy, Elevated circulating creatine kinase concentration	OMIM:606768
Developmental And Epileptic Encephalopathy 14	Delayed CNS myelination, Clonus, Tetraplegia, Gliosis, Spasticity, Neuronal loss in central nervo...	OMIM:614959
Charcot-Marie-Tooth Disease, Type 4C	Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe...	OMIM:601596
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Hand muscle atrophy, Facial palsy, Lower limb muscle weakness, Nemaline bodies, Flexion contractu...	OMIM:607684
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel...	OMIM:607734
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Segmental peripheral demyelination/remyelination, Optic atrophy, Distal amyotrophy, Gait disturba...	OMIM:311070
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb spasticity, Ataxia, Abnormal morphology of musculature of pharynx, Inability to walk, ...	ORPHA:280210
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Delayed CNS myelination, Small for gestational age, Simplified gyral pattern,...	OMIM:615095
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P...	OMIM:105550
Congenital Muscular Dystrophy Without Intellectual Disability	Cerebellar atrophy, Reduced muscle fiber alpha dystroglycan, Pachygyria, Fatty replacement of ske...	ORPHA:370980
Spastic Paraplegia With Neuropathy And Poikiloderma	Absent eyebrow, Demyelinating sensory neuropathy, Demyelinating motor neuropathy, Absent eyelashe...	OMIM:182815
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Facial hypotonia, Inability to walk, Astrocytosis, Difficulty walking, Atrial septal defect, Slen...	OMIM:611087
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Foot dorsiflexor weakness, Distal amyotrophy, Steppage gait, Peripheral demyelination, Axonal deg...	OMIM:607736
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased number of peripheral myelinated nerve fibers, Distal lower limb amyotrophy, Foot dorsif...	OMIM:600882
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Myopathy, Sho...	OMIM:609115
Charcot-Marie-Tooth Disease, Type 4K	Skeletal muscle atrophy, Ataxia, Axonal loss, Difficulty walking, Peripheral demyelination	OMIM:616684
Huntington Disease-Like 2	Caudate atrophy, Parkinsonism, Involuntary movements, Chorea, Weight loss, Gait disturbance, Cere...	ORPHA:98934
Giant Axonal Neuropathy 2, Autosomal Dominant	Peripheral axonal neuropathy, Cardiomyopathy, Distal amyotrophy, Steppage gait, Onion bulb formation	OMIM:610100
Myopathy And Diabetes Mellitus	Distal lower limb amyotrophy, Peripheral axonal neuropathy, Inability to walk, Achilles tendon co...	ORPHA:2596
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Waddling gait, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Unstea...	OMIM:612937
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Waddling gait, Elevated circulating creatine kinase concentration, Myopathy, Proximal muscle weak...	ORPHA:1878
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased number of peripheral myelinated nerve fibers, Foot dorsiflexor weakness, Upper limb mus...	OMIM:605588
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Spastic tetraparesis, Babinski sign, Gait ataxia, Loss of ambulation, CNS demyelination, Peripher...	OMIM:249900
Charcot-Marie-Tooth Disease, Type 4B2	Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel...	OMIM:604563
Krabbe Disease	Diffuse cerebral atrophy, Optic atrophy, Hypertonia, Neurodegeneration, Decerebrate rigidity, Pro...	OMIM:245200
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Peripheral axonal degeneration, Ataxia, Acute rhabdomyolysis, Chorea, Axonal degeneration, Babins...	OMIM:604168
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Behavioral Variant Of Frontotemporal Dementia	Astrocytosis, Frontotemporal cerebral atrophy, Gait disturbance, Fasciculations, Abnormality of e...	ORPHA:275864
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Proximal ...	OMIM:607706
Leukoencephalopathy With Vanishing White Matter 1	Unsteady gait, Optic atrophy, Cerebral hypomyelination, CNS demyelination, Gait disturbance, Glio...	OMIM:603896
Bethlem Myopathy 1	Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Elevated circulating creat...	OMIM:158810
Merrf	Ragged-red muscle fibers, Myopathy, Optic atrophy, Ataxia	ORPHA:551
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Waddling gait, Elevated circulating creatine kinase concentration, Lower limb muscle weakness, Ba...	OMIM:616924
Mitochondrial Complex I Deficiency, Nuclear Type 15	Cerebellar atrophy, Flexion contracture, Optic atrophy, Spastic tetraplegia, Myopathy, CNS demyel...	OMIM:618237
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Skeletal muscle atrophy, Peripheral axonal neuropathy, Paralysis, Lower-limb joint contracture, D...	OMIM:613710
Spastic Paraplegia 11, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Skeletal muscle at...	OMIM:604360
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Hand muscle atrophy, Skeletal muscle atrophy, Gait disturbance, Peripheral demyelination	ORPHA:99944
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ...	OMIM:617087
Mitochondrial Complex I Deficiency, Nuclear Type 21	Ataxia, Babinski sign, Ragged-red muscle fibers, Myopathy, Difficulty walking, Leukodystrophy, Sp...	OMIM:618242
Spinocerebellar Ataxia Type 25	Decreased number of large peripheral myelinated nerve fibers, Babinski sign, Gait ataxia, Spastic...	ORPHA:101111
Myopathy, Myofibrillar, 3	Elevated circulating creatine kinase concentration, Achilles tendon contracture, Cardiomyopathy, ...	OMIM:609200
Myopathy, Myofibrillar, 6	Scapular winging, Facial palsy, Elevated circulating creatine kinase concentration, Myofibrillar ...	OMIM:612954
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Vocal cord paresis	OMIM:158580
Charcot-Marie-Tooth Disease, Type 4J	Ankle flexion contracture, Axonal loss, Distal arthrogryposis, Gait disturbance, Peripheral hypom...	OMIM:611228
Hemimegalencephaly	Optic atrophy, Hemiparesis, Gray matter heterotopia, Gliosis, Myoclonus, Pachygyria, Polymicrogyr...	ORPHA:99802
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Ataxia, Ragged-red muscle fibers, Myopathy, Myoclonus, Spasticity	OMIM:545000
Scapuloperoneal Myopathy, X-Linked Dominant	Waddling gait, Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase co...	OMIM:300695
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Distal lower limb muscle weakness, Difficulty walking, Paralysis	OMIM:608634
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Extremely elevated creatine kinase, Peripheral axonal neuropathy, Demyelinating sensory neuropath...	ORPHA:99939
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Slender build, Elevated circulating creatine kinase concentration, Myopathy, Shoulder girdle musc...	OMIM:615156
Short Chain Acyl-Coa Dehydrogenase Deficiency	Optic atrophy, Cardiomyopathy, Myopathy, Hypertonia, Lethargy, Failure to thrive	ORPHA:26792
Neuropathy, Congenital Hypomyelinating, 2	Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Inability to wal...	OMIM:618184
Leigh Syndrome	Ataxia, Optic atrophy, Hepatocellular necrosis, Gliosis, CNS demyelination, Spasticity, Failure t...	OMIM:256000
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl...	OMIM:615424
Inclusion Body Myositis	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe...	ORPHA:611
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in upper limbs, Scapular winging, Foot dorsiflexor weakness, Flexion con...	OMIM:619216
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Clumsiness, EMG: myopathic a...	ORPHA:399086
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Small for gestational age, Tremor, Abnormality of neuronal migration, ...	OMIM:300957
Charcot-Marie-Tooth Disease, Type 4B3	Skeletal muscle atrophy, Lower limb muscle weakness, Upper limb muscle weakness, Gait disturbance...	OMIM:615284
Neutral Lipid Storage Disease With Myopathy	Elevated circulating creatine kinase concentration, Increased muscle lipid content, Cardiomyopath...	OMIM:610717
Nemaline Myopathy 7	Waddling gait, Fatty replacement of skeletal muscle, Nemaline bodies, Knee flexion contracture, S...	OMIM:610687
Charcot-Marie-Tooth Disease Type 4A	Hand muscle weakness, Decreased number of large peripheral myelinated nerve fibers, Inability to ...	ORPHA:99948
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Autophagic vacuoles, Elevated circulating creatine kinase concentration, Facial hypotonia, Fatty ...	ORPHA:266
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Ataxia, Unsteady gait, Optic atrophy, Abnormal pyramidal sign, Cerebral atrop...	OMIM:256600
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased number of large peripheral myelinated nerve fibers, Distal amyotrophy, Steppage gait, M...	OMIM:615376
Adducted Thumbs Syndrome	Myelin-dependent gliosis, Cerebral dysmyelination, Myopathy, Arthrogryposis multiplex congenita, ...	OMIM:201550
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Ataxia, Symmetric peripheral demyelination, Corpus callosum atrophy, Babinski sign, Pseudobulbar ...	OMIM:169500
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Parkinsonism, Akinesia, Neurofibrillary tangles, Tremor, Rigidity, Cerebral atrop...	OMIM:601104
Neuropathy, Hereditary, With Liability To Pressure Palsies	Hand muscle weakness, Vocal cord paralysis, Segmental peripheral demyelination/remyelination	OMIM:162500
Glut1 Deficiency Syndrome 1	Ataxia, Paralysis, Babinski sign, Spasticity, Choreoathetosis, Hemiparesis, Myoclonus, Lethargy, ...	OMIM:606777
Developmental And Epileptic Encephalopathy 71	CNS demyelination, Gliosis, Simplified gyral pattern	OMIM:618328
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Delayed myelination, Fle...	OMIM:214150
Leber Hereditary Optic Neuropathy	Postural tremor, Myopathy, Optic atrophy, Ataxia	ORPHA:104
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles, Elevated circulating creatine kinase ...	OMIM:609500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ...	OMIM:608099
Adult Krabbe Disease	Broad-based gait, Ataxia, Progressive spastic paraparesis, Hoffmann sign, Babinski sign, Clumsine...	ORPHA:206448
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Ataxia, Ventricular septal defect, Inability to walk, Cerebellar glios...	ORPHA:79243
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta...	OMIM:618129
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Elevated circulating ...	OMIM:254110
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Myopathy, Ataxia	ORPHA:2579
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Waddling gait, Elevated circulating creatine kinase concentration, Centrally nucleated skeletal m...	ORPHA:86812
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Distal lower limb amyotrophy, Failure to thrive in infancy, Decreased number of large peripheral ...	ORPHA:90103
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Distal lower limb amyotrophy, Claw hand deformity, Elevated circulating creatine kinase concentra...	OMIM:614455
Immunodeficiency 83, Susceptibility To Viral Infections	Hemiparesis, Lethargy, Gliosis	OMIM:613002
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, ...	OMIM:616239
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Hypoplastic toenails, Myofiber disarray, Increased variability in muscle fibe...	OMIM:604377
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Upper limb muscle weakness, Distal amyotrophy, Axonal degeneration/regeneration, Segmental periph...	OMIM:607791
Oculopharyngodistal Myopathy	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis...	ORPHA:98897
Neuropathy, Ataxia, And Retinitis Pigmentosa	Myopathy, Ataxia, Corticospinal tract atrophy	OMIM:551500
Nemaline Myopathy 2	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co...	OMIM:256030
Congenital Myasthenic Syndromes With Glycosylation Defect	Waddling gait, Scapular winging, Elevated circulating creatine kinase concentration, Facial palsy...	ORPHA:353327
Congenital Myopathy 2A, Typical, Autosomal Dominant	Waddling gait, Facial palsy, Rigidity, Nemaline bodies, Dilated cardiomyopathy, Limb muscle weakn...	OMIM:161800
Congenital Neuronal Ceroid Lipofuscinosis	Abnormal astrocyte morphology, Cerebellar atrophy, Elevated circulating creatine kinase concentra...	ORPHA:168486
Zebra Body Myopathy	Waddling gait, Torticollis, Autophagic vacuoles, Facial palsy, Elevated circulating creatine kina...	ORPHA:97240
Juvenile Huntington Disease	Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre...	ORPHA:248111
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Peripheral axonal neu...	OMIM:607250
Distal Myotilinopathy	Multiple joint contractures, Elevated circulating creatine kinase concentration, Loss of ability ...	ORPHA:98911
Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Vocal cord paralysis, Decreased cervical spin...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Vocal cord paralysis, Decreased cervical spin...	ORPHA:98853
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Parkinsonism, Neurofibrillary tangles, Temporal cortical ...	ORPHA:100070
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe...	OMIM:300580
Spastic Paraplegia 50, Autosomal Recessive	Cerebellar atrophy, Optic disc pallor, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia...	OMIM:612936
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Cerebellar atrophy, Ataxia, Involuntary movements, Decreased number of large peripheral myelinate...	OMIM:271245
Muscle Filaminopathy	Extremely elevated creatine kinase, Scapular winging, Fatty replacement of skeletal muscle, Abnor...	ORPHA:171445
Lethal Congenital Contracture Syndrome 8	Flexion contracture, Vocal cord paralysis, Facial diplegia, Distal amyotrophy, Distal arthrogrypo...	OMIM:616287
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Inability to walk, Flexion contracture, Astr...	ORPHA:258
Pontocerebellar Hypoplasia, Type 4	Congenital contracture, Hypertonia, Gliosis, Myoclonus, Spasticity	OMIM:225753
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Myopathy, Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentra...	ORPHA:206599
Marinesco-Sjogren Syndrome	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Elevated circulating creatine kinase concent...	OMIM:248800
Focal Cortical Dysplasia, Type Ii	Hemiparesis, Astrocytosis	OMIM:607341
Spinal Muscular Atrophy, X-Linked 2	Multiple joint contractures, Elevated circulating creatine kinase concentration, Facial palsy, Sp...	OMIM:301830
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness, Vocal cord par...	OMIM:607641
X-Linked Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Vocal cord paralysis, Decreased cervical spin...	ORPHA:98863
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Cerebellar atrophy, Ataxia, Lower limb muscle weakness, Dysmetria, Dysdiadochokin...	OMIM:614487
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne...	ORPHA:598
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Cachexia, Flexion contracture, Myopathy, Gait disturbance	ORPHA:157973
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Peripheral axonal neuro...	OMIM:615490
Rigid Spine Syndrome	Waddling gait, Skeletal muscle atrophy, Hip contracture, Elbow flexion contracture, Hamstring con...	ORPHA:97244
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elevated circulating creatine kinase concentration, Elbow contracture, Ankle con...	OMIM:620386
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormal peripheral myelination, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongu...	ORPHA:466768
Classic Glucose Transporter Type 1 Deficiency Syndrome	Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy...	ORPHA:71277
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Elevated circulating creatine k...	OMIM:619566
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Skeletal muscle atrophy, Ata...	OMIM:617193
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Upper limb muscle weakness, Distal amyotrophy, Peripheral hypomyelination, Onion bulb formation, ...	OMIM:605253
Machado-Joseph Disease	Cerebellar atrophy, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign,...	OMIM:109150
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy, Elevated circulating creatine kin...	OMIM:255100
Spinocerebellar Ataxia With Epilepsy	Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,...	ORPHA:254881
Paraparetic Variant Of Guillain-Barré Syndrome	Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination	ORPHA:231445
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy	DECIPHER:59
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu...	ORPHA:59135
Severe Neurodegenerative Syndrome With Lipodystrophy	Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop...	ORPHA:363400
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Flexion contracture, Small for gestational age, Peripheral demyelin...	OMIM:616733
Neurodegeneration With Brain Iron Accumulation 6	Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Tip-toe gait, Gait disturbance, N...	OMIM:615643
Bethlem Myopathy 2	Scapular winging, Elevated circulating creatine kinase concentration, Flexion contracture, Myopat...	OMIM:616471
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating cr...	ORPHA:98855
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Delayed CNS myelination, Clonus, Rigidity, Babinski sign, Optic atrophy, Hypertonia, Gliosis, Myo...	OMIM:614498
Posterior Column Ataxia With Retinitis Pigmentosa	Skeletal muscle atrophy, Broad-based gait, Flexion contracture of finger, Ataxia, Optic atrophy, ...	OMIM:609033
Congenital Disorder Of Glycosylation, Type Iid	Myopathy, Decreased muscle mass, Elevated circulating creatine kinase concentration	OMIM:607091
Autosomal Recessive Spastic Paraplegia Type 35	Cerebellar atrophy, Lower limb spasticity, Spastic tetraparesis, Corpus callosum atrophy, Babinsk...	ORPHA:171629
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Waddling gait, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achil...	OMIM:310300
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Segmental peripheral demyelination/remyelination, Unsteady gait, Axonal loss...	OMIM:601455
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Tremor, Fatty ...	ORPHA:329478
Neuromyelitis Optica Spectrum Disorder	Neuronal loss in central nervous system, Peripheral demyelination, Paraplegia	ORPHA:71211
Huntington Disease	Caudate atrophy, Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sig...	ORPHA:399
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Myopathy, Elevated circulating creatine kinase concentration	ORPHA:88635
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Peripheral axonal degeneration, Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase ...	OMIM:208920
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal myelination, Rigidity, Astrocytosis, Bradykinesia, Poor fine motor coordination, Dysdiad...	ORPHA:309854
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista...	OMIM:608673
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Optic atrophy, Myopathy, Gait disturbance, Increased variability in muscle fiber diameter...	OMIM:125250
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Optic a...	ORPHA:272
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Cerebellar atrophy, Skeletal muscle atrophy, Facial palsy, Elevated circulating creatine kinase c...	OMIM:606612
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Cerebral atrophy, Gliosis, Myoclonus, Abnormality of extrapyramidal motor function, Neuronal loss...	OMIM:604218
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Waddling gait, Broad-based gait, Elevated circulating creatine kinase concentration, Cardiomyopat...	ORPHA:119
Myopathy, Distal, 3	Clumsiness, Distal amyotrophy, Steppage gait, Muscular dystrophy, EMG: myopathic abnormalities, J...	OMIM:610099
Congenital Myopathy 6 With Ophthalmoplegia	Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture,...	OMIM:605637
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Abnormality of the musculature of the lower limbs, Ataxia, ...	ORPHA:464282
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Cardiomyopathy, Hypertrophic cardiomyopathy, Gliosis, Lower limb spasticity	OMIM:615119
Spastic Ataxia, Charlevoix-Saguenay Type	Progressive truncal ataxia, Spastic ataxia, Ataxia, Peroneal muscle atrophy, Decreased number of ...	OMIM:270550
Myopathy, Tubular Aggregate, 1	Elevated circulating creatine kinase concentration, Flexion contracture, Type 2 muscle fiber atro...	OMIM:160565
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Neurodegeneration	OMIM:610951
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ragged-red muscle fi...	OMIM:258450
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy	OMIM:208100
Lethal Congenital Contracture Syndrome 7	Cerebellar atrophy, Skeletal muscle atrophy, Paralysis, Cerebral atrophy, Knee flexion contractur...	OMIM:616286
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Skeletal muscle atrophy, Hand muscle weakness, Demyelinating motor neuropath...	ORPHA:101085
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Distal lower limb amyotrophy, Postural tremor, Hand muscle weakness, Triceps weakness, Quadriceps...	ORPHA:99947
Carnitine Deficiency, Myopathic	Myopathy, Reduced muscle carnitine level	OMIM:212160
Progressive Supranuclear Palsy	Tremor, Rigidity, Unsteady gait, Bradykinesia, Blepharospasm, Falls, Gliosis, Neuronal loss in ce...	ORPHA:683
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Elevated circulating creatine kinase concentration, Quadriceps muscle weakness,...	OMIM:603689
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Dysmyelinating leukodyst...	OMIM:612319
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Waddling gait, Broad-based gait, Scapular winging, Calf muscle pseudohypertrophy, Elevated circul...	ORPHA:353
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Gliosis, Shuffling g...	ORPHA:411602
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Skeletal muscle atrophy, Ataxia, Frequent falls, Spastic tetrapares...	ORPHA:3208
Congenital Myopathy 10A, Severe Variant	Elevated circulating creatine kinase concentration, Facial palsy, Camptodactyly of finger, Diaphr...	OMIM:614399
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Overweight, Tremor, Hyperkinetic movements, Upper limb spasticity, Gait disturbance, Gliosis	ORPHA:457240
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Loss of ability to walk in early childhood, Elevated circulating creatine kinase concentration, I...	OMIM:609560
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy, Asymmetric septal hypertrophy	OMIM:212130
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Neurofibrillary tangles, Tremor, Rigidity, Limb ataxia, Gait at...	OMIM:137440
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gliosis, Gait disturbance, Shuffling gait, ...	OMIM:168601
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Amyotrophic lateral sclerosis, Elevated circulating creatine kinase concentration,...	ORPHA:52430
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Myopathy, Elevated circulating creatine kinase concentration, Scapulohumeral muscular dystrophy	OMIM:160570
Mitochondrial Complex I Deficiency, Nuclear Type 14	Optic atrophy, Biventricular hypertrophy, Myopathy, Brain atrophy, Hypertrophic cardiomyopathy	OMIM:618236
Huntington Disease-Like 2	Rigidity, Chorea, Weight loss, Bradykinesia, Cerebral cortical atrophy, Action tremor	OMIM:606438
Methionine Adenosyltransferase I/Iii Deficiency	CNS demyelination, Peripheral demyelination	OMIM:250850
Diabetes Insipidus, Neurohypophyseal	Gliosis	OMIM:125700
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Peripheral axonal degeneration, Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Ataxia, ...	OMIM:615157
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Ataxia, Elevated circulating creatine kinase concentration, Cachexia, Ca...	ORPHA:42
Slowed Nerve Conduction Velocity, Autosomal Dominant	Onion bulb formation, Peripheral demyelination	OMIM:608236
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Peripheral axona...	ORPHA:254930
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Ragged-red muscle fibers, Dysmetria, Gait ataxia, Progressive gait ataxi...	OMIM:607459
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta...	OMIM:612999
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Torticollis, White eyelashes, Ataxia, White eyebrow, Cerebral dysmyelination, Dysmyelinating leuk...	OMIM:609136
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai...	OMIM:618093
Diaminopentanuria	Neurodegeneration, Spasticity, Ataxia	OMIM:222350
Giant Axonal Neuropathy 1, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Curly hair, Facial palsy, Spastic paraple...	OMIM:256850
Central Core Disease	Multiple joint contractures, Elevated circulating creatine kinase concentration, Mitral valve pro...	ORPHA:597
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, ...	ORPHA:300605
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Muscular dystrophy, ...	OMIM:253601
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Chorea, Choreoathetosis, Gliosis, Leukodyst...	ORPHA:506
Leukodystrophy, Hypomyelinating, 5	Lower limb muscle weakness, Truncal titubation, Babinski sign, Abnormal pyramidal sign, Lower lim...	OMIM:610532
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Autosomal Dominant Optic Atrophy, Classic Form	Cerebellar atrophy, Skeletal muscle atrophy, Scapular winging, Ataxia, Corpus callosum atrophy, S...	ORPHA:98673
Mitochondrial Complex I Deficiency, Nuclear Type 25	Nemaline bodies, Failure to thrive, Myopathy	OMIM:618246
Tay-Sachs Disease	Skeletal muscle atrophy, Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressive spasticity...	ORPHA:845
Pulmonary Blastoma	Weight loss	ORPHA:64741
Myopathy, Myofibrillar, 2	Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Quadriceps muscl...	OMIM:608810
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atrophy, Myopathy, Difficu...	ORPHA:254875
Congenital Myopathy 3 With Rigid Spine	Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil...	OMIM:602771
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Corpus callosum atrophy, Delayed myelination, Babinski sign, Low anterior hai...	OMIM:248500
Oculopharyngeal Muscular Dystrophy	Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Ragged-red ...	ORPHA:270
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Waddling gait, Chorea, Right ventricular dilatation, Myopathy, Abnormal circulating creatine kina...	ORPHA:369840
Myopathy, Distal, Tateyama Type	Elevated circulating creatine kinase concentration, Hand muscle weakness, Centrally nucleated ske...	OMIM:614321
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Skeletal muscle atrophy, Peripheral axonal neuropathy, Axonal degeneration/regeneration, Tremor, ...	OMIM:218000
Congenital Myopathy 5 With Cardiomyopathy	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, D...	OMIM:611705
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Unsteady gait, Abno...	ORPHA:600
Carnitine Deficiency, Systemic Primary	Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, Myopathy, Reduc...	OMIM:212140
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Decreased size of nerve terminals, Type 2 muscle fiber atrophy, Myopathy, ...	OMIM:603034
Autosomal Dominant Optic Atrophy Plus Syndrome	Ataxia, Limb-girdle muscle weakness, Spastic paraplegia, Optic atrophy, Cardiomyopathy, Myopathy,...	ORPHA:1215
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Acetyl-Coa Carboxylase Deficiency	Myopathy	OMIM:613933
Muscular Dystrophy, Congenital, Megaconial Type	Waddling gait, Facial palsy, Elevated circulating creatine kinase concentration, Dilated cardiomy...	OMIM:602541
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Elevated circulating creatine kinase concentration, Achilles tendon contracture, Ba...	OMIM:608840
Supranuclear Palsy, Progressive, 2	Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Neurofibrillary tangles, Rigidity, Granu...	OMIM:609454
Hypophosphatasia, Childhood	Waddling gait, Myopathy	OMIM:241510
Tangier Disease	Peripheral axonal neuropathy, Facial diplegia, Distal amyotrophy, Nail dystrophy, Nail dysplasia,...	OMIM:205400
Inclusion Body Myositis	Inflammatory myopathy, Rimmed vacuoles	OMIM:147421
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cerebral atrophy, Ast...	OMIM:203700
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Myopathy, Hypertrophic cardiomyopathy, Failure to thrive	ORPHA:91130
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progres...	ORPHA:101112
Porphyria, Acute Hepatic	Failure to thrive, Respiratory paralysis, Paralysis	OMIM:612740
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ...	ORPHA:206549
Metachromatic Leukodystrophy	Ataxia, Chorea, Babinski sign, Optic atrophy, Spastic tetraplegia, Tetraplegia, Gait disturbance,...	OMIM:250100
Spinocerebellar Ataxia 25	Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Ataxia, Babinski sign...	OMIM:608703
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Elevated circulating creatine kinase concentration, Fatty replacement of skele...	OMIM:620249
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal...	ORPHA:1145
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Small for gestational age, Clonus, Babinski sign, Spastic tetraplegia, Cerebral a...	OMIM:619847
Myasthenic Syndrome, Congenital, 25, Presynaptic	Myopathy, Flexion contracture, Generalized amyotrophy	OMIM:618323
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Chorea, Cerebral atrophy, Right ventricular dilatation, Myopathy, Hyperkinetic movements, Limb-gi...	ORPHA:369847
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C...	OMIM:105500
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Elevated circulating creatine kinase concentration...	ORPHA:254361
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating creatine kinase concentration, Tremor, Quadriceps muscle weakness, Ragged-re...	ORPHA:254892
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Ataxia, Chorea, Dilated cardiomyopathy, Spastic tetraplegia, Cerebral atrophy, Gait ataxia, Glios...	OMIM:618321
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Ataxia, Obesity, Central nervous system degeneration, Cardiomyopathy, Myopathy, Abnorma...	ORPHA:98907
Isolated Glycerol Kinase Deficiency	Myopathy, Elevated circulating creatine kinase concentration	ORPHA:408
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
Riboflavin Transporter Deficiency	Optic disc pallor, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Tremor, Myoclonus, Li...	ORPHA:97229
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac...	OMIM:300696
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	Facial palsy, Quadriceps muscle atrophy, Elevated circulating creatine kinase concentration, Calf...	OMIM:611307
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	ORPHA:154
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Skeletal muscle hypertrophy, Macroglossia, Gait disturbance, Myopathy	ORPHA:2349
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Distal lower limb muscle weakness, Paralysis	OMIM:158590
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency	Myopathy	OMIM:616314
Marinesco-Sjögren Syndrome	Skeletal muscle atrophy, Ataxia, Rigidity, Optic atrophy, Myopathy, Hypertonia, Abnormal circulat...	ORPHA:559
Fingerprint Body Myopathy	Myopathy	OMIM:305550
Batten-Turner Congenital Myopathy	Myopathy	OMIM:255300
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Skeletal muscle atrophy, Cerebral palsy, Elevated circulating cr...	ORPHA:682
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Myopathy	OMIM:613076
Muscle-Eye-Brain Disease	Elevated circulating creatine kinase concentration, Hemiplegia/hemiparesis, Optic atrophy, Myopat...	ORPHA:588
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ataxia, Cachexia, Ragged-red muscle fibers, Weight loss, Slender build	OMIM:613662
Pick Disease Of Brain	Neuronal loss in central nervous system, Gliosis	OMIM:172700
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect, Gliosis	ORPHA:357225
Charcot-Marie-Tooth Disease, Type 4B1	Myelin outfoldings, Distal amyotrophy, Irregular myelin loops, Facial palsy	OMIM:601382
Duane Anomaly-Myopathy-Scoliosis Syndrome	Myopathy	ORPHA:50817
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Segmental peripheral demyelination/remyelination, Abnormality of Krebs cycle metabolism, ...	ORPHA:255210
Congenital Myopathy 4B, Autosomal Recessive	Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, EMG: myopathic abnormalities,...	OMIM:609284
Abetalipoproteinemia	CNS demyelination, Ataxia, Peripheral demyelination	OMIM:200100
Christianson Syndrome	Cerebellar atrophy, Decreased muscle mass, Cachexia, Gait ataxia, Truncal ataxia, Arthrogryposis ...	ORPHA:85278
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:2597
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Cerebellar atrophy, Peripheral axonal neuropathy, Substan...	ORPHA:276244
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, In...	ORPHA:26791
Typical Nemaline Myopathy	Waddling gait, Facial palsy, Elevated circulating creatine kinase concentration, Limb-girdle musc...	ORPHA:171436
Oculopharyngodistal Myopathy 2	Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Increas...	OMIM:618940
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Cockayne Syndrome Type 3	Optic disc pallor, Peripheral axonal neuropathy, Dry hair, Skeletal muscle atrophy, Unsteady gait...	ORPHA:90324
Multiple Sulfatase Deficiency	Cerebellar atrophy, Ataxia, Cerebral atrophy, CNS demyelination, Spasticity, Peripheral demyelina...	OMIM:272200
Glycogen Storage Disease Iii	Ventricular hypertrophy, Elevated circulating creatine kinase concentration, Cardiomyopathy, Dist...	OMIM:232400
Mitochondrial Complex I Deficiency, Nuclear Type 11	Myopathy, Hypertrophic cardiomyopathy, Failure to thrive	OMIM:618234
Pelizaeus-Merzbacher Disease	Broad-based gait, Ataxia, Reduction of oligodendroglia, Cerebral dysmyelination, Tremor, Inabilit...	OMIM:312080
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Cardiomyopathy, Diff...	ORPHA:171433
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Hoffmann sig...	OMIM:615491
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Skeletal muscle atrophy, Myopathy, Elevated circulating creatine kinase concentration	ORPHA:300179
Molybdenum Cofactor Deficiency, Complementation Group B	Diffuse cerebral atrophy, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Axonal loss, Hyper...	OMIM:252160
Charcot-Marie-Tooth Disease Type 1B	Skeletal muscle atrophy, Peripheral axonal neuropathy, Elevated circulating creatine kinase conce...	ORPHA:101082
Combined Oxidative Phosphorylation Deficiency 11	Delayed myelination, CNS hypomyelination, Cardiomyopathy, Myopathy, Tongue fasciculations, Myoclo...	OMIM:614922
Tuberculosis	Weight loss	ORPHA:3389
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Steppage gait, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr...	ORPHA:254864
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Muscle fiber hyaline bodies, Elevated circulating creatine kinase concentration, Centrally nuclea...	OMIM:255160
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Ataxia, Weakness of facial musculature, Flexion contracture, Abnormal pyramidal sign, Cardiomyopa...	OMIM:201470
Familial Acute Necrotizing Encephalopathy	Rigidity, Spastic tetraplegia, Hypertonia, Gait disturbance, Gliosis, Spasticity	ORPHA:88619
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Palatal tremor, Failur...	ORPHA:363717
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fatty replacement of...	OMIM:608807
Pontocerebellar Hypoplasia, Type 2A	Chorea, Optic atrophy, Opisthotonus, Congenital contracture, Gliosis, Extrapyramidal dyskinesia, ...	OMIM:277470
X-Linked Immunoneurologic Disorder	Hemiplegia/hemiparesis, Hypertonia, Myopathy	ORPHA:2571
Charcot-Marie-Tooth Disease Type 4C	Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Foot dorsiflexor weak...	ORPHA:99949
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Fatty replacement of skeletal muscle, Vocal cord paralysis, Myopathy, Increased variabili...	ORPHA:397744
Heart-Hand Syndrome, Slovenian Type	Myopathy, Dilated cardiomyopathy	OMIM:610140
Lissencephaly, X-Linked, 2	Spasticity, Pachygyria, Gliosis, Lissencephaly	OMIM:300215
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Weight loss, Failure to thrive, Cachexia, Gait ataxia	OMIM:612075
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Small for gestational age, Ataxia, Highly arched eyebrow, Bicuspid aortic valve, Mitral atresia, ...	OMIM:220111
Glutamate-Cysteine Ligase Deficiency	Myopathy, Ataxia	ORPHA:33574
Ataxia-Telangiectasia	Skeletal muscle atrophy, Abnormality of chromosome stability, Hypopigmentation of hair, Ataxia, T...	ORPHA:100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Highly elevated creatine kinase, Myopathy, Increased variability in muscle fiber diameter, Centra...	OMIM:618992
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Severe demyelination of the white matter, Atrophy of the spinal cord, Dilated cardiomyopa...	ORPHA:79282
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy	ORPHA:366
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc...	OMIM:605355
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Cerebellar atrophy, Scapular winging, Ataxia, Parkinsonis...	OMIM:614298
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Myopathy, Abdominal ...	OMIM:615980
Molybdenum Cofactor Deficiency, Complementation Group A	Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Axonal loss, Gliosis, ...	OMIM:252150
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Apraxia, Spasticity	OMIM:615889
Bethlem Myopathy	Multiple joint contractures, Reduced muscle collagen VI, Elevated circulating creatine kinase con...	ORPHA:610
Glutaric Acidemia I	Rigidity, Delayed myelination, Spastic diplegia, Opisthotonus, Choreoathetosis, Symmetrical progr...	OMIM:231670
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,...	OMIM:310440
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
East Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Inability to walk, Peripheral hypomyeli...	ORPHA:199343
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Limb muscle ...	ORPHA:486815
Cerebrotendinous Xanthomatosis	Axonal degeneration, Abnormal pyramidal sign, Gliosis, Ataxia, Parkinsonism, Distal amyotrophy, G...	ORPHA:909
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy	OMIM:605809
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Postural tremor, Limb joint contracture, Bab...	OMIM:301072
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bicuspid aortic valve, Clonus, Synophrys, Hypertonia, Leukodystrophy, Intention tremor, Ataxia, O...	OMIM:619475
Malignant Hyperthermia, Susceptibility To, 3	Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Viral infect...	OMIM:154276
Neuropathy, Hereditary Sensory, Type Ie	Decreased number of peripheral myelinated nerve fibers, Ataxia, Cerebral atrophy	OMIM:614116
Idiopathic Achalasia	Weight loss	ORPHA:930
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Elevated circulating creatine kinase concentration, Cardiomyopathy, Myofibri...	OMIM:609452
Nemaline Myopathy 8	Myofibrillar myopathy, Flexion contracture, Facial palsy, Nemaline bodies	OMIM:615348
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy, Hypertrophic cardiomyopathy	ORPHA:1369
Melas	Peripheral axonal neuropathy, Abnormal central motor function, Ataxia, Dilated cardiomyopathy, Op...	ORPHA:550
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cerebellar atrophy, Optic disc pallor, Small for gestational age, Facial hypotonia, Limb joint co...	ORPHA:404454
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Inability to walk, Weight loss, Opisthotonus, Tip-toe gait, Gait disturbance, ...	ORPHA:216866
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Decreased muscle mass, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski...	OMIM:234200
Mitochondrial Myopathy And Sideroblastic Anemia	Myopathy, Distichiasis, Generalized limb muscle atrophy	ORPHA:2598
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Overriding aorta, Bicus...	ORPHA:477817
Congenital Myopathy 16	Scapular winging, Postural tremor, Flexion contracture, Tongue tremor, EMG: myopathic abnormalities	OMIM:618524
Acute Peripheral Arterial Occlusion	Limb muscle weakness, Paralysis	ORPHA:90064
Machado-Joseph Disease Type 1	Cerebellar atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Substantia nigra glios...	ORPHA:276238
Machado-Joseph Disease Type 2	Cerebellar atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Substantia nigra glios...	ORPHA:276241
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Elevated circulating creatine kinase concentration, Dilated cardiomyop...	OMIM:609015
Peho Syndrome	Cerebellar atrophy, Pachygyria, Optic atrophy, Myoclonus, Peripheral dysmyelination, Neuronal los...	OMIM:260565
Isaacs Syndrome	Calf muscle hypertrophy, Fasciculations, Weight loss	ORPHA:84142
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Cerebellar atrophy, Elevated circulating creatine kinase concentration, Ragged-red muscle fibers,...	ORPHA:352447
Myasthenic Syndrome, Congenital, 16	Gait disturbance, Periodic paralysis	OMIM:614198
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers, Hemiparesis	OMIM:540000
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Peripheral axonal neuropathy, Large for gestational age,...	ORPHA:169189
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter	OMIM:616816
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Waddling gait, Myopathy	ORPHA:166002
Alzheimer Disease 3	Spastic tetraparesis, Neurofibrillary tangles, Babinski sign, Gait disturbance, Myoclonus, Abnorm...	OMIM:607822
Combined Oxidative Phosphorylation Deficiency 14	Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Gliosis, Myoclonus, Atrophy/Degen...	OMIM:614946
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Hip contracture, Failure to thrive in infancy, Facial hypotonia, Cachexia, Inability to walk, Cer...	OMIM:616801
Acquired Partial Lipodystrophy	Myopathy, Generalized hirsutism	ORPHA:79087
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Parkinsonism, Neurofibrillary tangles, Gliosis, Apraxia, Neuronal loss in central nervous system,...	OMIM:607485
King-Denborough Syndrome	Ventricular septal defect, Elevated circulating creatine kinase concentration, Centrally nucleate...	OMIM:619542
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Neurofibrillary tangles, Chorea, Babinski sign, Optic atrophy, Dysmetria, Gai...	OMIM:610217
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Decreased number of peripheral myelinated nerve fibers	OMIM:607080
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Neurodegeneration, Congenital diaphragmatic hernia, Gait ataxia	ORPHA:438134
Chronic Hiccup	Abnormality of the diaphragm, Weight loss	ORPHA:396
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis	ORPHA:140989
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Myopathy	OMIM:230450
Oculopharyngodistal Myopathy 4	Postural tremor, Elevated circulating creatine kinase concentration, Autophagic vacuoles, Tremor,...	OMIM:619790
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Skeletal muscle atrophy, Ataxia, Elevated circulating creatine kinase concentration, Cachexia, Ge...	ORPHA:1933
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Hypertonia, Gliosis, Spastic tetraplegia, Tetraplegia	OMIM:608033
Hypokalemic Periodic Paralysis, Type 2	Myopathy, Periodic paralysis	OMIM:613345
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Myositis, Scapular winging, Elevated circulating creatine kinase concent...	ORPHA:206569
Neuromuscular Oculoauditory Syndrome	Elevated circulating creatine kinase concentration, Periventricular heterotopia, Unsteady gait, K...	OMIM:618733
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Hand muscle weakness, Tremor, Inability to walk, Weaknes...	ORPHA:99956
Gm1 Gangliosidosis	Ataxia, Ventricular septal defect, Camptodactyly of finger, Tremor, Patent ductus arteriosus, Uns...	ORPHA:354
Flynn-Aird Syndrome	Skeletal muscle atrophy, Alopecia, Ataxia, Cachexia, Cerebral cortical atrophy	ORPHA:2047
Erythrokeratodermia Variabilis	Alopecia, Abnormal hair morphology, Weight loss, Abnormality of the nail, Generalized hirsutism	ORPHA:317
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology...	ORPHA:75840
Laryngeal Neuroendocrine Tumor	Neuroendocrine neoplasm, Weight loss	ORPHA:100083
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy	OMIM:609283
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Tongue fascicul...	OMIM:618823
Chanarin-Dorfman Syndrome	Myopathy, Alopecia, Ataxia	OMIM:275630
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy...	OMIM:619178
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic...	OMIM:608423
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Axonal regeneration	OMIM:607831
Mitochondrial Myopathy, Lethal, Infantile	Myopathy	OMIM:551000
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Myop...	OMIM:255125
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Parkinsonism, Ragged-red muscle fibers, Limb muscle weakness, Cerebral atrophy, Cardiomyopathy, G...	OMIM:609286
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Short stepped shuffling gait	OMIM:168605
Spongiform Encephalopathy With Neuropsychiatric Features	Neurofibrillary tangles, Gliosis, Parkinsonism	OMIM:606688
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Moynahan Syndrome	Sparse hair, Alopecia, Cachexia	ORPHA:2574
Creatine Phosphokinase, Elevated Serum	Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Myopathy, I...	OMIM:123320
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ...	OMIM:615422
Oculopharyngodistal Myopathy 1	Ataxia, Facial palsy, Elevated circulating creatine kinase concentration, Autophagic vacuoles, Tr...	OMIM:164310
Malignant Hyperthermia, Susceptibility To, 2	Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Viral infect...	OMIM:154275
Butyrylcholinesterase Deficiency	Paralysis	ORPHA:132
Phosphoglycerate Kinase 1 Deficiency	Myopathy, Rhabdomyolysis, Ataxia	OMIM:300653
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Abnormal muscle glycogen co...	ORPHA:367
Hypokalemic Periodic Paralysis	Abnormal muscle fiber morphology, Paralysis, Respiratory paralysis, Increased intramyocellular li...	ORPHA:681
Hsd10 Disease, Infantile Type	Diffuse cerebral atrophy, Spastic tetraparesis, Cardiomegaly, Poor coordination, Optic atrophy, S...	ORPHA:391428
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Flexion contracture, Low posterior hairline, Cardiomyopathy, Myopathy, Nemaline bodies	OMIM:616549
Pelizaeus-Merzbacher Disease	Ataxia, Failure to thrive in infancy, Cachexia, Optic atrophy, Choreoathetosis, Gait disturbance,...	ORPHA:702
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Cockayne Syndrome	Skeletal muscle atrophy, Dry hair, Progressive gait ataxia, Hypertonia, Gliosis, Congenital contr...	ORPHA:191
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Bradykinesia, Ble...	OMIM:606159
Congenital Myopathy 15	Waddling gait, Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability ...	OMIM:620161
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia	ORPHA:1216
Cystinosis	Myopathy, Failure to thrive, Gait disturbance, Abnormal pyramidal sign	ORPHA:213
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val...	ORPHA:75566
Mitochondrial Neurogastrointestinal Encephalomyopathy	Peripheral axonal neuropathy, Decreased muscle mass, Foot dorsiflexor weakness, Cachexia, Decreas...	ORPHA:298
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebellar atrophy, Delayed CNS myelination, Brittle hair, Ataxia, Ragged-red muscle fibers, Rhab...	OMIM:124000
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari...	OMIM:255320
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neu...	OMIM:300894
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Immunodeficiency 9	Myopathy, Failure to thrive, Difficulty walking	OMIM:612782
Autosomal Recessive Spastic Paraplegia Type 55	Lower limb spasticity, Skeletal muscle atrophy, Lower limb muscle weakness, Optic neuropathy, Tib...	ORPHA:320375
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Skeletal muscle atrophy, Abnormal peripheral nerve morphology by anatomical site, Steppage gait, ...	ORPHA:168563
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Babinski sign, Rhabdomyolysis, Cardiomyopathy, Skeletal myopathy, T...	ORPHA:746
Kleefstra Syndrome Due To A Point Mutation	Abnormal heart morphology, Failure to thrive, Gliosis, Large for gestational age	ORPHA:261652
Mitochondrial Complex I Deficiency, Nuclear Type 2	Ankle clonus, Falls, Gliosis, Difficulty walking, Hypertrophic cardiomyopathy	OMIM:618222
Leber Optic Atrophy	Postural tremor, Ataxia, Optic neuropathy, Optic atrophy, Myopathy	OMIM:535000
Congenital Disorder Of Deglycosylation 1	Delayed CNS myelination, Facial hypotonia, Involuntary movements, Delayed myelination, Chorea, Dy...	OMIM:615273
Choreoacanthocytosis	Caudate atrophy, Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Cho...	ORPHA:2388
Myopathy, Centronuclear, 2	Waddling gait, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexio...	OMIM:255200
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Thick hair, Tremor, Increased variability in muscle fiber diameter, Dysmetria,...	ORPHA:502423
Neutral Lipid Storage Myopathy	Hand muscle weakness, Fatty replacement of skeletal muscle, Obesity, Generalized limb muscle atro...	ORPHA:98908
Triosephosphate Isomerase Deficiency	Optic disc pallor, Skeletal muscle atrophy, Tremor, Unsteady gait, Cerebral atrophy, Myopathy, Sp...	OMIM:615512
Synaptic Congenital Myasthenic Syndromes	Waddling gait, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Dec...	ORPHA:98915
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Parkinsonism, Neurofibrillary tangles, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia...	ORPHA:1020
Holocarboxylase Synthetase Deficiency	Lethargy, Alopecia, Ataxia, Weight loss	ORPHA:79242
Hereditary Central Diabetes Insipidus	Lethargy, Weight loss	ORPHA:30925
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Loss of eyelashes, Distal amyotrophy, Basal lamina onion bulb formation, Spastic gait, Demyelinat...	ORPHA:2821
Carcinoid Syndrome	Hepatic necrosis, Pulmonary carcinoid tumor, Myopathy, Small intestine carcinoid, Paraganglioma, ...	ORPHA:100093
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Lower limb spasticity, Hip contracture, Large for gestational age, Delayed myelination, Patent du...	OMIM:300868
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Resting tremor, Skeletal muscle atrophy, Facial palsy, Parkinsonism, Rigidity, Ragged-red muscle ...	OMIM:157640
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Barth Syndrome	Failure to thrive, Dilated cardiomyopathy, Skeletal myopathy, Gait disturbance, Endocardial fibro...	OMIM:302060
Spinocerebellar Ataxia Type 3	Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c...	ORPHA:98757
Hypokalemic Periodic Paralysis, Type 1	Myopathy, Periodic paralysis	OMIM:170400
Variegate Porphyria	Paralysis	OMIM:176200
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Weakness due to upper motor neuron dysfunction, Parkinsonism, Hemi...	ORPHA:217260
Congenital Myopathy 9A	Tongue fasciculations, EMG: myopathic abnormalities, Obesity, Akinesia	OMIM:618822
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Neurofibrillary tangles, Tremor, Rigidity, Parkinsonism with favorable response t...	ORPHA:199351
Sengers Syndrome	Myopathy, Hypertrophic cardiomyopathy	OMIM:212350
Mcleod Syndrome	Elevated circulating creatine kinase concentration, Chorea, Dilated cardiomyopathy, Rhabdomyolysi...	OMIM:300842
Myopathy, Myofibrillar, 1	Facial palsy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Restrictive cardiomyopathy, EM...	OMIM:601419
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles...	ORPHA:98913
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Gait disturbance, Myopathy	ORPHA:85329
X-Linked Adrenoleukodystrophy	Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,...	ORPHA:43
Central Diabetes Insipidus	Lethargy, Failure to thrive, Weight loss	ORPHA:178029
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Myopathy, Ataxia, Gait ataxia	OMIM:613077
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Myopathy, Rhabdomyolysis, Ataxia	ORPHA:713
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Weight loss, Macroglossia, Gene...	ORPHA:2221
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Decreased muscle mass, Cerebral dysmyelination, Corpus callosum atrophy, Glio...	OMIM:261515
Polymyositis	Pericarditis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morpholog...	ORPHA:732
Gabriele-De Vries Syndrome	Waddling gait, Distal lower limb amyotrophy, Small for gestational age, Facial hypotonia, Sparse ...	ORPHA:506358
Neuropathy, Congenital Hypomyelinating, 3	Cerebellar atrophy, Limb joint contracture, Cachexia, Babinski sign, Flexion contracture, CNS hyp...	OMIM:618186
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Abnormal astrocyte morphology, Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-t...	ORPHA:83629
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Focal Myositis	Myositis, Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Oculogastrointestinal Muscular Dystrophy	Abnormal mitral valve morphology, Skeletal muscle atrophy, Myopathy, Cachexia	ORPHA:1876
Acyl-Coa Dehydrogenase 9 Deficiency	Dilated cardiomyopathy, EMG: myopathic abnormalities, Hypertrophic cardiomyopathy, Myopathy, Elev...	ORPHA:99901
Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodeg...	ORPHA:803
Glycogen Storage Disease X	Myopathy, Rhabdomyolysis, Elevated circulating creatine kinase concentration	OMIM:261670
Adrenoleukodystrophy	Alopecia, Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Neurodege...	OMIM:300100
Diencephalic Syndrome	Optic atrophy, Cachexia, Decreased body weight	ORPHA:1672
Trigeminal Neuralgia	CNS demyelination, Cranial nerve compression, Peripheral demyelination	ORPHA:221091
Myofibrillar Myopathy 10	Elevated circulating creatine kinase concentration, Ankle flexion contracture, Elbow flexion cont...	OMIM:619040
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ataxia, Clonus, Elevated circulating creatine kinase concentration, Acute rhabdomyolysis, Poor co...	OMIM:616878
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Tremor, Cranial nerve compression, Vocal cord paralysis, Weight l...	ORPHA:94080
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Neurofibrillary tangles, Rigidity, Abnormal pyramidal sig...	OMIM:616840
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Broad-based gait, Small for gestational age, Failure to thrive in infancy, Ataxia, Ventricular se...	ORPHA:268261
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Diffuse cerebral atrophy, Gliosis, Spastic tetraplegia	ORPHA:3240
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Skeletal muscle atrophy, Decreased number of large peripheral myelinated nerve fibers, Hand tremo...	OMIM:162400
Cockayne Syndrome A	Cerebellar atrophy, Hip contracture, Failure to thrive, Dry hair, Ataxia, Abnormal peripheral mye...	OMIM:216400
Rett Syndrome	Skeletal muscle atrophy, Cachexia, Gait apraxia, Gait ataxia, Truncal ataxia, Spasticity, Cerebra...	OMIM:312750
Attrv30M Amyloidosis	Cardiomyopathy, Cardiomegaly, Weight loss	ORPHA:85447
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont...	OMIM:615418
Cockayne Syndrome B	Dry hair, Ataxia, Abnormal peripheral myelination, Small for gestational age, Abnormal hair morph...	OMIM:133540
Familial Partial Lipodystrophy, Dunnigan Type	Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Myopathy, Abnormality of ...	ORPHA:2348
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, EMG: myopathic abnormalities, Viral infec...	ORPHA:57
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Caribbean Parkinsonism	Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive...	ORPHA:97355
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss	ORPHA:178509
Hypercalcemia, Infantile, 1	Lethargy, Failure to thrive, Weight loss	OMIM:143880
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Facial palsy, Elevated circulating creatine kinase concentration, Hypopl...	OMIM:254940
Fatal Familial Insomnia	Neuronal loss in central nervous system, Ataxia, Myoclonus, Weight loss	OMIM:600072
Cronkhite-Canada Syndrome	Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Dystrophic toenail, Pat...	ORPHA:2930
Allergic Bronchopulmonary Aspergillosis	Abnormal fingernail morphology, Cerebral cortical atrophy, Weight loss	ORPHA:1164
Lynch Syndrome	Glioblastoma multiforme, Hemiplegia/hemiparesis, Flexion contracture, Abnormal pyramidal sign, We...	ORPHA:144
Schwartz-Jampel Syndrome	Abnormal eyebrow morphology, Hip contracture, Skeletal muscle atrophy, Elevated circulating creat...	ORPHA:800
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Ventricular se...	ORPHA:263297
Wilson Disease	Increased body weight, Clumsiness, Weight loss, Proximal muscle weakness in lower limbs, Difficul...	ORPHA:905
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Card...	ORPHA:228305
Mcdonough Syndrome	Synophrys, Aplasia/Hypoplasia of the abdominal wall musculature, Cachexia	ORPHA:2471
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p...	ORPHA:98902
Bone Dysplasia, Lethal Holmgren Type	Patent ductus arteriosus, Weight loss, Atrial septal defect, Hypertrophic cardiomyopathy, Failure...	ORPHA:1842
Pparg-Related Familial Partial Lipodystrophy	Calf muscle pseudohypertrophy, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertr...	ORPHA:79083
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ...	ORPHA:178148
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Classic Hodgkin Lymphoma	Ataxia, Weight loss	ORPHA:391
Polyarteritis Nodosa	Pericarditis, Weight loss, Cardiomyopathy, Polyneuritis, Sensory axonal neuropathy	ORPHA:767
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Incoordination, Ataxia, Clonus, Involuntary movements, Elevated circulating creatine kinase conce...	ORPHA:480864
Aicardi-Goutieres Syndrome 9	Delayed CNS myelination, Pericarditis, Spastic tetraparesis, Pericardial effusion, Optic atrophy,...	OMIM:619487
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Abnormal pericardium morphology, Myocarditis, Hemiplegia/hemiparesis, Endocarditis, Wei...	ORPHA:183
Familial Cervical Artery Dissection	Facial palsy, Paralysis	ORPHA:36382
Familial Colorectal Cancer Type X	Glioblastoma multiforme, Hemiplegia/hemiparesis, Flexion contracture, Abnormal pyramidal sign, We...	ORPHA:440437
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Skeletal muscle atrophy, Cachexia, Thin eyebrow	ORPHA:3242
Abetalipoproteinemia	Broad-based gait, Ataxia, Cardiomegaly, Babinski sign, Dysmetria, Gait ataxia, Myopathy, Steppage...	ORPHA:14
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C...	OMIM:272750
Congenital Myopathy 21 With Early Respiratory Failure	EMG: myopathic abnormalities, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase c...	OMIM:620326
Bohring-Opitz Syndrome	Ventricular septal defect, Thick hair, Delayed peripheral myelination, Supernumerary nipple, Flex...	OMIM:605039
Takayasu Arteritis	Abnormal endocardium morphology, Abnormal heart valve morphology, Weight loss, Abnormal aortic va...	ORPHA:3287
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Rhabdomyolysis, Periodic paralysis, Weight loss	OMIM:188580
Snakebite Envenomation	Paralysis, Rhabdomyolysis, Pseudobulbar paralysis, Muscle fiber necrosis, Respiratory paralysis	ORPHA:449285
Muscular Dystrophy, Barnes Type	Myopathy, Muscular dystrophy	OMIM:158800
Japanese Encephalitis	Skeletal muscle atrophy, Weakness due to upper motor neuron dysfunction, Facial palsy, Paralysis,...	ORPHA:79139
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Pachygyria, Rhabdomyolysis, Abnormality of ne...	ORPHA:157
Mulibrey Nanism	Cachexia	ORPHA:2576
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Abnormal hair morphology, Flexion contracture, Weight loss, Premature graying of hair	ORPHA:1979
Usher Syndrome	Myopathy, Hypertrophic cardiomyopathy, Ataxia, Cerebral cortical atrophy	ORPHA:886
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Myopathy, Alopecia, Hypoplastic fingernail	ORPHA:257
Poliomyelitis	Skeletal muscle atrophy, Hypoplasia of the musculature, Paralysis, Inability to walk, Paraparesis...	ORPHA:2912
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Vocal cord paralysis, Clumsin...	OMIM:211530
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatic periportal necrosis, Pachygyria, Gliosis	OMIM:231680
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Cerebellar atrophy, Ataxia, Dysdiadochokinesis, Peripheral hypomyelination, Increased circulating...	OMIM:612780
Pseudoachondroplasia	Waddling gait, Skeletal myopathy	ORPHA:750
Neuroblastoma, Susceptibility To, 1	Ataxia, Weight loss, Myoclonus, Failure to thrive, Ganglioneuroma	OMIM:256700
Alzheimer Disease 9, Susceptibility To	Neurofibrillary tangles, Hippocampal atrophy, Abnormality of extrapyramidal motor function, Senil...	OMIM:608907
Adrenomyodystrophy	Myopathy, Failure to thrive	ORPHA:977
Pheochromocytoma/Paraganglioma Syndrome 2	Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ...	OMIM:601650
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Muscular ventricular septal defect, ...	OMIM:115197
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Combined Oxidative Phosphorylation Deficiency 33	Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, Myopathy, Left ...	OMIM:617713
Reticular Dysgenesis	Failure to thrive, Weight loss	ORPHA:33355
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Vici Syndrome	Hypopigmentation of hair, Left ventricular hypertrophy, Elevated circulating creatine kinase conc...	OMIM:242840
Pyruvate Dehydrogenase E2 Deficiency	Speech apraxia, Broad-based gait, Babinski sign, Hypertonia, Neurodegeneration, Gait disturbance,...	ORPHA:79244
Rhabdoid Tumor	Hemiplegia, Cerebral palsy, Weight loss	ORPHA:69077
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Tremor, EMG: myopathic abnormalities, Highly arched eyebrow	ORPHA:457365
Anaplastic Thyroid Carcinoma	Vocal cord paralysis, Abnormal skeletal muscle morphology, Weight loss	ORPHA:142
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Periventricular heterotopia, Rigidity, Optic atrophy, Spastic tetraplegia, Neurodegenerat...	OMIM:618476
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Gait disturbance, Camptodactyly of finger, Cachexia	ORPHA:2774
Thyrotoxic Periodic Paralysis	Paralysis, Tremor, Abnormal muscle fiber morphology, Rhabdomyolysis, Obesity, Tetraplegia, Weight...	ORPHA:79102
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Patent ductus arteriosus, Obesity, Weight loss, Hypertrophic car...	ORPHA:251071
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Cachexia, Elbow flexion contracture, Spastic tetraplegia, Knee flexion contractu...	ORPHA:371364
Myopathy Due To Myoadenylate Deaminase Deficiency	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy	OMIM:615511
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Axial Osteomalacia	Myopathy, Elevated circulating creatine kinase concentration	OMIM:109130
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Glioblastoma	Glioblastoma multiforme, Paralysis	ORPHA:360
Infantile Krabbe Disease	Lower limb spasticity, Diffuse cerebral atrophy, Cachexia, Optic atrophy, Spastic diplegia, Opist...	ORPHA:206436
Niemann-Pick Disease, Type C1	Ataxia, Neurofibrillary tangles, Gait ataxia, Cataplexy, Spasticity, Neuronal loss in central ner...	OMIM:257220
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Ventricular septal defect, Delayed CNS myelination, Neurodegeneration	OMIM:620210
Alpha-Mannosidosis, Infantile Form	Cerebellar atrophy, Optic disc pallor, Ataxia, Facial hypotonia, Highly arched eyebrow, Spastic p...	ORPHA:309282
Xp21 Deletion Syndrome	Decreased muscle mass, Elevated circulating creatine kinase concentration, Calf muscle hypertroph...	ORPHA:261476
Chylomicron Retention Disease	Myopathy, EMG: myopathic abnormalities, Failure to thrive	ORPHA:71
19Q13.11 Microdeletion Syndrome	Ventricular septal defect, Cachexia, Supernumerary nipple, Fine hair, Sparse or absent eyelashes,...	ORPHA:217346
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis, Weight loss	OMIM:613239
X-Linked Creatine Transporter Deficiency	Ataxia, Cachexia, Chorea, Athetosis, Hypertonia	ORPHA:52503
Acquired Generalized Lipodystrophy	Calf muscle pseudohypertrophy, Astrocytoma, Cardiomyopathy, Myopathy, Generalized hirsutism	ORPHA:79086
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Broad-based gait...	OMIM:256810
Congenital Myasthenic Syndrome	Waddling gait, Ataxia, Limb-girdle muscle weakness, Distal amyotrophy, Tip-toe gait, Difficulty w...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Waddling gait, Ataxia, Limb-girdle muscle weakness, Distal amyotrophy, Tip-toe gait, Difficulty w...	ORPHA:98914
Thymic Carcinoma	Diaphragmatic paralysis, Weight loss	ORPHA:99868
Oxoglutaric Aciduria	Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy, Hypertonia, Ataxia	ORPHA:31
Immunodeficiency 10	Myopathy, Nail dysplasia	OMIM:612783
Riddle Syndrome	Ataxia, Weight loss, Clumsiness, Gait disturbance, Chromosomal breakage induced by ionizing radia...	ORPHA:420741
1P36 Deletion Syndrome	Abnormal eyebrow morphology, Abnormal heart valve morphology, Camptodactyly of finger, Hemiplegia...	ORPHA:1606
Helsmoortel-Van Der Aa Syndrome	Facial palsy, Obesity, Abnormal heart morphology, Mitral valve prolapse, Truncal obesity, Gliosis...	OMIM:615873
Giant Cell Arteritis	Alopecia, Pericarditis, Ataxia, Optic atrophy, Weight loss, Double outlet right ventricle with su...	ORPHA:397
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,...	ORPHA:276621
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Abnormal cardiac septum morphology, Cachexia	ORPHA:93941
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Limb-girdle muscle weakness, Premature graying of hair, Myopathy, Limb m...	OMIM:112250
Pleural Mesothelioma	Weight loss	ORPHA:50251
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Camptodactyly of finger, Abnormal hair pattern, Cachexia, Tremor, Synophrys, Ob...	ORPHA:85293
Follicular Lymphoma	Weight loss	ORPHA:545
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Joint contracture, Gliosis, Camptodactyly, Atrial septal defect, Hypertr...	OMIM:617403
Encephalocraniocutaneous Lipomatosis	Alopecia, Paralysis, Abnormal eyelash morphology, Rigidity, Cerebral atrophy, Tetraplegia, Hemipa...	ORPHA:2396
Glossopharyngeal Neuralgia	Cranial nerve compression, Schwannoma, Vocal cord paralysis, Weight loss, Abnormal glossopharynge...	ORPHA:221098
Wolfram Syndrome	Ataxia, Optic atrophy, Cardiomyopathy, Myopathy, Cerebral cortical atrophy	ORPHA:3463
Mucolipidosis Type Ii	Hip contracture, Dry hair, Abnormal mitral valve morphology, Diastasis recti, Inability to walk, ...	ORPHA:576
Gitelman Syndrome	Ataxia, Paralysis, Rhabdomyolysis, Increased circulating renin level, Failure to thrive	OMIM:263800
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Weight loss, Cerebral cortical at...	ORPHA:37
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Eosinophilic Fasciitis	Myositis, Muscular edema, Weight loss	ORPHA:3165
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Proximal upper limb muscle hypertrophy, Generalized hirsutism, Premature graying of hair, Skeleta...	ORPHA:280365
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Thin nail, Paralysis, Abnormal hair morphology, Small nail	OMIM:242100
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased muscle mass, Cardiomegaly, Weight loss, Cardiomyopathy, Lethargy	ORPHA:465508
Idiopathic Camptocormia	Amyotrophic lateral sclerosis, Myositis, Elevated circulating creatine kinase concentration, Park...	ORPHA:1320
Graves Disease, Susceptibility To, 1	Onycholysis, Weight loss	OMIM:275000
Combined Oxidative Phosphorylation Deficiency 55	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Type 2 muscle fiber ...	OMIM:619743
Isolated Permanent Neonatal Diabetes Mellitus	Peripheral axonal neuropathy, Ataxia, Abnormal heart morphology, Weight loss, Lower-limb joint co...	ORPHA:99885
X-Linked Agammaglobulinemia	Alopecia, Failure to thrive, Weight loss	ORPHA:47
Tetrasomy 12P	Sparse hair, Sparse eyebrow, Cachexia	ORPHA:884
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Hypertonia, Cachexia	ORPHA:1389
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca...	OMIM:300257
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Scleromyxedema	Myopathy, Elevated circulating creatine kinase concentration, Abnormal skeletal muscle morphology	ORPHA:167635
Pfapa Syndrome	Weight loss	ORPHA:42642
Whipple Disease	Pericarditis, Myositis, Ataxia, Cachexia, Myocarditis, Abnormal pyramidal sign, Myoclonus	ORPHA:3452
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Myotubular Myopathy With Abnormal Genital Development	Myopathy, Centrally nucleated skeletal muscle fibers	OMIM:300219
Musculocontractural Ehlers-Danlos Syndrome	Decreased muscle mass, Abnormal heart valve morphology, Abnormal heart morphology, Myopathy, Arth...	ORPHA:2953
Papillorenal Syndrome	Optic disc coloboma, Gliosis	OMIM:120330
Celiac Disease, Susceptibility To, 1	Alopecia, Failure to thrive, Ataxia, Weight loss	OMIM:212750
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Neurofibrillary tangles, Amyotrophic lateral sclerosis, Global brain atrophy	OMIM:619132
Oromandibular Dystonia	Blepharospasm, Torticollis, Hyperkinetic movements, Weight loss	ORPHA:93958
Combined Oxidative Phosphorylation Defect Type 29	Optic neuropathy, Delayed myelination, Axonal degeneration, Poor coordination, Neurodegeneration,...	ORPHA:478029
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Ataxia, Congenital diaphragmatic hernia, Unsteady gait, Neurodegeneration, Jo...	OMIM:615919
Glycogen Storage Disease Due To Acid Maltase Deficiency	Facial hypotonia, Elevated circulating creatine kinase concentration, Glycogen accumulation in mu...	ORPHA:365
3-Hydroxy-3-Methylglutaric Aciduria	Ataxia, Spastic hemiparesis, Dilated cardiomyopathy, Weight loss, Myoclonus, Lethargy, Spasticity	ORPHA:20
Multiple System Atrophy 1, Susceptibility To	Skeletal muscle atrophy, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neu...	OMIM:146500
Tick-Borne Encephalitis	Speech apraxia, Skeletal muscle atrophy, Incoordination, Facial palsy, Paralysis, Tremor, Abnorma...	ORPHA:297
Localized Scleroderma	Skeletal muscle atrophy, Abnormal skin adnexa morphology, Flexion contracture, Myopathy, Patchy a...	ORPHA:90289
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Lower limb spasticity, Small for gestational age, Thin nail, Ataxia, Inabilit...	OMIM:617799
Yao Syndrome	Ventricular hypertrophy, Pericarditis, Weight loss	OMIM:617321
Hereditary Amyloidosis With Primary Renal Involvement	Myopathy, Weight loss	ORPHA:85450
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Paramyotonia Congenita Of Von Eulenburg	Facial muscle hypertrophy, EMG: myopathic abnormalities, Periodic hypokalemic paresis	ORPHA:684
Multiple Endocrine Neoplasia, Type Iib	Failure to thrive in infancy, Myopathy, Pheochromocytoma, Ganglioneuroma, Thick eyebrow	OMIM:162300
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Cerebral Visual Impairment	Optic disc pallor, Cerebral palsy, Optic nerve hypoplasia, Optic atrophy, Clumsiness, Central ner...	ORPHA:447788
Toxin-Mediated Infectious Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:230800
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,...	ORPHA:29072
Nijmegen Breakage Syndrome	Abnormal hair quantity, Skeletal muscle atrophy, Abnormality of chromosome stability, Glioma, Cac...	ORPHA:647
Immunodeficiency 27A	Weight loss	OMIM:209950
Williams Syndrome	Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Cardiomegaly, Hypoplas...	ORPHA:904
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Aplasia of the pectoralis major muscle, Myopathy, Facial palsy	ORPHA:1358
Stormorken Syndrome	Myopathy, Elevated circulating creatine kinase concentration	OMIM:185070
Congenital Myopathy 17	Diaphragmatic eventration, Distal arthrogryposis, Failure to thrive in infancy, Myopathy	OMIM:618975
Glycerol Kinase Deficiency	Lethargy, Small for gestational age, Muscular dystrophy, Myopathy	OMIM:307030
Beta-Ketothiolase Deficiency	Spasticity, Ataxia, Extrapyramidal dyskinesia, Weight loss	ORPHA:134
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Waddling gait, Skeletal muscle atrophy, Patent ductus arteriosus, Myopathy, Type 1 muscle fiber p...	OMIM:614557
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Weight loss	ORPHA:411703
Alveolar Echinococcosis	Ataxia, Abnormal pericardium morphology, Abnormal skeletal muscle morphology, Hemiparesis, Weight...	ORPHA:284
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Cor triatriatum, Secundum atrial septal defect, Patent ductus arteriosus, Myopathy, Pulmonic sten...	OMIM:612541
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Skeletal muscle atrophy, Limb muscle weakness, Paralysis	OMIM:612300
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Flexion contracture of finger, Hypoplasia of the musculature, Ankle flexion cont...	ORPHA:2020
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Myopathy, Cachexia	ORPHA:109
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Broad-based gait, Mitral valve calcification, Cachexia, Paralysis, Aortic valve calc...	ORPHA:2072
Juvenile Dermatomyositis	Calcinosis, Alopecia, Pericarditis, Myositis, Elevated circulating creatine kinase concentration,...	ORPHA:93672
Chediak-Higashi Syndrome	Hypopigmentation of hair, Ataxia, Tremor, Silver-gray hair, Neurodegeneration, Gait disturbance, ...	OMIM:214500
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Glycogen Storage Disease Xii	Elevated circulating creatine kinase concentration, Low posterior hairline, Myopathy, Increased v...	OMIM:611881
Aredyld Syndrome	Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Cachexia	ORPHA:1133
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Peripheral axonal neuropathy, Decreased muscle mass, Elbow flexion contracture, Limb muscle weakn...	ORPHA:1900
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Increased circulating renin level, Weight loss	ORPHA:171876
Short Syndrome	Sparse hair, Alopecia, Weight loss	ORPHA:3163
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Ataxia, Cachexia, Optic atrophy, Spasticity, Demyelinating peripheral neuropathy	ORPHA:220295
Familial Isolated Hypoparathyroidism	Myopathy	ORPHA:2238
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Progressive spas...	ORPHA:309246
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased number of peripheral myelinated nerve fibers, Paronychia	OMIM:201300
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan...	OMIM:168000
Neuroendocrine Tumor Of The Colon	Carcinoid tumor, Abnormal pulmonary valve cusp morphology, Atypical pulmonary carcinoid tumor, We...	ORPHA:100080
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Lower limb spasticity, Spastic tetraparesis, Pericardial effusion, Delayed my...	OMIM:615846
Majeed Syndrome	Failure to thrive, Flexion contracture, Cachexia, Weight loss	ORPHA:77297
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Xfe Progeroid Syndrome	Cachexia, Poor coordination, Optic atrophy, Defective DNA repair after ultraviolet radiation dama...	OMIM:610965
African Trypanosomiasis	Papilledema, Alopecia, Pericarditis, Abnormal central motor function, Involuntary movements, Akin...	ORPHA:3385
Arnold-Chiari Malformation Type I	Abnormality of the musculature of the lower limbs, Cranial nerve compression, Babinski sign, Voca...	ORPHA:268882
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Kaposi Sarcoma	Weight loss	ORPHA:33276
Early-onset Alzheimer disease with cerebral amyloid angiopathy	Neurofibrillary tangles, Senile plaques	DECIPHER:48
Leishmaniasis	Weight loss	ORPHA:507
Poems Syndrome	Papilledema, Pericardial effusion, Leukonychia, Weight loss, Hypertrichosis	ORPHA:2905
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology	Neurofibrillary tangles, Senile plaques	OMIM:605055
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Bicuspid aortic valve, Dextrocardia, Synophrys, Myopathy, Difficulty wal...	ORPHA:536545
Thymic Neuroendocrine Tumor	Neuroendocrine neoplasm, Carcinoid tumor, Pancreatic islet cell adenoma, Weight loss	ORPHA:97289
Al Amyloidosis	Abnormal cardiac ventricle morphology, Abnormal heart morphology, Weight loss, Macroglossia, Mono...	ORPHA:85443
Osteosarcoma	Weight loss	ORPHA:668
Foodborne Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:228371
Chronic Beryllium Disease	Weight loss	ORPHA:133
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Wild Type Attr Amyloidosis	Hypertrophic cardiomyopathy, Weight loss	ORPHA:330001
Neuroendocrine Tumor Of The Rectum	Carcinoid tumor, Abnormal pulmonary valve cusp morphology, Atypical pulmonary carcinoid tumor, We...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Carcinoid tumor, Abnormal pulmonary valve cusp morphology, Atypical pulmonary carcinoid tumor, We...	ORPHA:100082
Deafness-Lymphedema-Leukemia Syndrome	Weight loss	ORPHA:3226
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo...	OMIM:616503
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Nail dysplasia, Alopecia, Nail dystrophy, Cachexia	OMIM:175500
Ring Chromosome 10 Syndrome	Cachexia	ORPHA:1438
Rheumatoid Arthritis	Digital flexor tenosynovitis, Weight loss	OMIM:180300
Thymoma	Myositis, Demyelinating peripheral neuropathy, Weight loss	ORPHA:99867
Systemic Capillary Leak Syndrome	Myocarditis, Pericarditis, Weight loss	ORPHA:188
Bullous Pemphigoid	Weight loss	ORPHA:703
Cap Polyposis	Weight loss	ORPHA:160148
Combined Immunodeficiency Due To Crac Channel Dysfunction	Myopathy	ORPHA:169090
Primary Triglyceride Deposit Cardiomyovasculopathy	Elevated circulating creatine kinase concentration, Increased muscle lipid content, Abnormality o...	ORPHA:565612
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormal heart valve morphology, Flexion contracture, Macroglossia, Neurodegeneratio...	OMIM:309900
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Niemann-Pick Disease, Type C2	Neurofibrillary tangles, Spasticity, Ataxia, Cataplexy	OMIM:607625
Cystinosis, Nephropathic	Skeletal muscle atrophy, Hypopigmentation of hair, Failure to thrive in infancy, Cerebral atrophy...	OMIM:219800
Liposarcoma	Weight loss	ORPHA:69078
Parkinson Disease 4, Autosomal Dominant	Parkinsonism, Weight loss	OMIM:605543
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Sanjad-Sakati Syndrome	Myopathy	ORPHA:2323
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Bronchial Neuroendocrine Tumor	Pulmonary carcinoid tumor, Abnormal pulmonary valve cusp morphology, Weight loss	ORPHA:97287
Malignant Hyperthermia Of Anesthesia	Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Abnormality of masseter muscle, Cardiomyoc...	ORPHA:423
Diets-Jongmans Syndrome	Ventricular septal defect, Gliosis, Congenital diaphragmatic hernia	OMIM:618846
Mucopolysaccharidosis, Type Vii	Abnormal heart valve morphology, Diastasis recti, Flexion contracture, Hirsutism, Cardiomyopathy,...	OMIM:253220
Congenital Tufting Enteropathy	Optic disc coloboma, Failure to thrive, Weight loss	ORPHA:92050
Felty Syndrome	Pericarditis, Weight loss	ORPHA:47612
Cystic Echinococcosis	Abnormal heart morphology, Abnormality of the diaphragm, Weight loss	ORPHA:400
Behçet Disease	Pericarditis, Myositis, Ataxia, Abnormal pyramidal sign, Endocarditis, Weight loss, Hemiparesis, ...	ORPHA:117
Erdheim-Chester Disease	Abnormal aortic valve morphology, Ataxia, Abnormal pericardium morphology, Weight loss	ORPHA:35687
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Vocal cord paralysis, Chemodectoma, Adrenal pheochromocytoma, Glom...	OMIM:605373
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Alzheimer Disease, Familial, 1	Neurofibrillary tangles, Parkinsonism	OMIM:104300
Medullary Thyroid Carcinoma	Pheochromocytoma, Weight loss	ORPHA:1332
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Delayed peripheral myelination, Synophrys, Small nail, Thin eyebrow, Failure to thrive	ORPHA:364577
Familial Glucocorticoid Deficiency	Hypertrophic cardiomyopathy, Failure to thrive, Tetraplegia, Weight loss	ORPHA:361
Alzheimer Disease 2	Neurofibrillary tangles, Parkinsonism	OMIM:104310
Hurler Syndrome	Flexion contracture, Cardiomyopathy, Abnormal CNS myelination, Macroglossia, Neurodegeneration, E...	OMIM:607014
Cryptogenic Organizing Pneumonia	Weight loss	ORPHA:1302
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Neurofibrillary tangles, Spasticity, Ataxia, Intention tremor	OMIM:117300
Peripheral Primitive Neuroectodermal Tumor	Torticollis, Lower limb muscle weakness, Weight loss	ORPHA:370348
Secondary Short Bowel Syndrome	Failure to thrive, Weight loss	ORPHA:95427
Oculoauriculovertebral Spectrum With Radial Defects	EMG: myopathic abnormalities, Atrioventricular canal defect	ORPHA:2549
Idiopathic Chronic Eosinophilic Pneumonia	Weight loss	ORPHA:2902
Adrenocortical Carcinoma	Hypertrichosis, Increased body weight, Weight loss	ORPHA:1501
Insensitivity To Pain, Congenital, With Anhidrosis	Decreased number of small peripheral myelinated nerve fibers, Sparse scalp hair, Nail dysplasia, ...	OMIM:256800
Andersen-Tawil Syndrome	Periodic hypokalemic paresis, Periodic hyperkalemic paralysis, Dilated cardiomyopathy, Periodic p...	ORPHA:37553
Aggressive Systemic Mastocytosis	Weight loss	ORPHA:98850
Late-Onset Isolated Acth Deficiency	Lethargy, Failure to thrive, Weight loss	ORPHA:199299
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Synophrys, Flexion contracture, Myopathy, Gait disturbance, Anonychia	ORPHA:3042
Silver-Russell Syndrome	Decreased muscle mass, Failure to thrive in infancy, Obesity, Cachexia	ORPHA:813
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Hereditary Xanthinuria	Myopathy	ORPHA:3467
Camurati-Engelmann Disease	Waddling gait, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Optic atrophy, Hypertroph...	ORPHA:1328
Neuroendocrine Tumor Of Stomach	Abnormal pulmonary valve cusp morphology, Weight loss, Paraganglioma, Atypical pulmonary carcinoi...	ORPHA:100075
Xanthinuria, Type I	Myopathy	OMIM:278300
Eosinophilic Gastroenteritis	Weight loss	ORPHA:2070
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Paralysis	ORPHA:83601
Igg4-Related Aortitis	Weight loss	ORPHA:449400
Hereditary Sensory And Autonomic Neuropathy Type 5	Decreased number of small peripheral myelinated nerve fibers	ORPHA:64752
Nephroblastoma	Weight loss	ORPHA:654
Stromme Syndrome	Myopathy, Optic nerve hypoplasia	OMIM:243605
Malignant Atrophic Papulosis	Abnormal myocardium morphology, Abnormal pericardium morphology, Weight loss	ORPHA:679
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Ragged-red muscle fibers, Weight loss, Distal amyotrophy, Slender build	OMIM:603041
Ménétrier Disease	Weight loss	ORPHA:2494
Inhalational Botulism	Paralysis	ORPHA:254504
Primary Hepatic Neuroendocrine Carcinoma	Neuroendocrine neoplasm, Carcinoid tumor, Weight loss	ORPHA:100085
Hutchinson-Gilford Progeria Syndrome	Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Mitral stenosis, Alopecia to...	ORPHA:740
Primary Intestinal Lymphangiectasia	Pericardial effusion, Weight loss	ORPHA:90362
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Weight loss	ORPHA:324964
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Amoebiasis Due To Entamoeba Histolytica	Constrictive pericarditis, Abnormal pericardium morphology, Weight loss	ORPHA:67
Pemphigus Vulgaris	Weight loss	ORPHA:704
Porphyria, Acute Intermittent	Respiratory paralysis, Paralysis	OMIM:176000
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Acute Monoblastic/Monocytic Leukemia	Weight loss	ORPHA:514
Q Fever	Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Endocarditis, W...	ORPHA:781
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Weight loss	ORPHA:139402
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Dermatomyositis	Abnormal hair quantity, Pericarditis, Myocarditis, Weight loss, Inflammatory myopathy, Abnormalit...	ORPHA:221
Wolman Disease	Cachexia	ORPHA:75233
Refractory Celiac Disease	Weight loss	ORPHA:398063
Trisomy 18	Ventricular septal defect, Camptodactyly of finger, Cachexia, Congenital diaphragmatic hernia, Hy...	ORPHA:3380
Insulin-Resistance Syndrome Type B	Alopecia, Abnormality of body weight, Increased body weight, Weight loss, Decreased body weight, ...	ORPHA:2298
Acute Adrenal Insufficiency	Failure to thrive, Increased circulating renin level, Sparse axillary hair, Weight loss	ORPHA:95409
Simple Cryoglobulinemia	Abnormal heart morphology, Pericarditis, Weight loss	ORPHA:91139
Pneumocystosis	Weight loss	ORPHA:723
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Hand tremor, Weight loss	ORPHA:424
Multiple Endocrine Neoplasia Type 1	Pancreatic endocrine tumor, Cranial nerve compression, Ependymoma, Insulinoma, Weight loss, Pulmo...	ORPHA:652
Acute Promyelocytic Leukemia	Weight loss	ORPHA:520
Hermansky-Pudlak Syndrome	Cardiomyopathy, Hypopigmentation of hair, Long eyelashes, Weight loss	ORPHA:79430
Andersen Cardiodysrhythmic Periodic Paralysis	Scapular winging, Periodic hypokalemic paresis, Periodic paralysis	OMIM:170390
Fanconi Anemia	Abnormality of chromosome stability, Patent ductus arteriosus, Weight loss, Abnormal cardiac sept...	ORPHA:84
Alzheimer Disease 4	Neurofibrillary tangles, Apraxia, Senile plaques	OMIM:606889
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Primary Myelofibrosis	Cachexia	ORPHA:824
Lymphoid Interstitial Pneumonia	Failure to thrive, Weight loss	ORPHA:79128
Imerslund-Gräsbeck Syndrome	Failure to thrive, Weight loss	ORPHA:35858
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Solitary Fibrous Tumor	Weight loss	ORPHA:2126
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Rat-Bite Fever	Pericarditis, Myocarditis, Tendonitis, Endocarditis, Weight loss	ORPHA:31205
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Weight loss	ORPHA:54251
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Myositis, Failure to thrive in infancy, Cachexia, Nail dystrophy	ORPHA:37042
Carney-Stratakis Syndrome	Paraganglioma, Weight loss	ORPHA:97286
Tsh-Secreting Pituitary Adenoma	Abnormal hair quantity, Pericardial effusion, Tremor, Weight loss, Periodic hypokalemic paresis	ORPHA:91347
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Osteootohepatoenteric Syndrome	Failure to thrive, Weight loss	OMIM:619377
Pineoblastoma	Lethargy, Papilledema, Paralysis	ORPHA:251909
Kikuchi-Fujimoto Disease	Myocarditis, Alopecia, Ataxia, Weight loss	ORPHA:50918
Gitelman Syndrome	Pericardial effusion, Failure to thrive, Rhabdomyolysis, Paralysis	ORPHA:358
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Rift Valley Fever	Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis	ORPHA:319251
Familial Gestational Hyperthyroidism	Hand tremor, Weight loss	ORPHA:99819
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Decreased number of large peripheral myelinated nerve fibers, Incoordination	OMIM:223900
Distal Renal Tubular Acidosis	Failure to thrive, Paralysis	ORPHA:18
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Anemia, Congenital Dyserythropoietic, Type Iv	Hypertrophic cardiomyopathy, Weight loss	OMIM:613673
Brucellosis	Pericarditis, Small for gestational age, Myocarditis, Chorea, Endocarditis, Weight loss, Abnormal...	ORPHA:1304
Addison Disease	Failure to thrive, Increased circulating renin level, Sparse axillary hair, Weight loss	ORPHA:85138
Reactive Arthritis	Pericarditis, Dystrophic fingernails, Abnormality of the nail, Weight loss	ORPHA:29207
Microsporidiosis	Myositis, Cachexia, Myocarditis, Endocarditis, Weight loss	ORPHA:2552
Ileal Neuroendocrine Tumor	Small intestine carcinoid, Tricuspid stenosis, Pulmonic stenosis, Weight loss	ORPHA:100078
Stevens-Johnson Syndrome	Abnormal myocardium morphology, Weight loss	ORPHA:36426
Systemic Mastocytosis With Associated Hematologic Neoplasm	Weight loss	ORPHA:98849
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Weight loss	ORPHA:1018
Toxic Epidermal Necrolysis	Abnormal myocardium morphology, Weight loss	ORPHA:537
Microform Holoprosencephaly	EMG: myopathic abnormalities, Tetralogy of Fallot	ORPHA:280200
Gallbladder Neuroendocrine Tumor	Neuroendocrine neoplasm, Weight loss	ORPHA:100086
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormal mitral valve morphology, Skeletal muscle atrophy, Cachexia	ORPHA:1969
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Hemiplegia, Cachexia	ORPHA:3217
Igg4-Related Retroperitoneal Fibrosis	Renal tubular epithelial necrosis, Weight loss	ORPHA:49041
Polycythemia Vera	Weight loss	ORPHA:729
Castleman Disease	Restrictive cardiomyopathy, Weight loss	ORPHA:160
Tyrosinemia, Type I	Hypertrophic cardiomyopathy, Failure to thrive, Periodic paralysis	OMIM:276700
Seckel Syndrome	Sparse scalp hair, Cachexia	ORPHA:808
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Klatskin Tumor	Weight loss	ORPHA:99978
Juvenile Polyposis Of Infancy	Atrial septal defect, Patent ductus arteriosus, Cachexia, Abnormal heart morphology	ORPHA:79076
Lysosomal Acid Lipase Deficiency	Failure to thrive, Cachexia, Weight loss	ORPHA:275761
Pyomyositis	Myositis, Weight loss	ORPHA:764
Cushing Syndrome Due To Ectopic Acth Secretion	Sparse scalp hair, Pancreatic endocrine tumor, Increased body weight, Weight loss, Pulmonary carc...	ORPHA:99889
Granulomatosis With Polyangiitis	Weight loss	OMIM:608710
Immunodeficiency 31C	Skeletal muscle atrophy, Weight loss	OMIM:614162
Proteus Syndrome	Decreased muscle mass, Cachexia, Gray matter heterotopia, Abnormality of the nail, Myofibrillar m...	ORPHA:744
Caroli Disease	Weight loss	ORPHA:53035
Granulomatosis With Polyangiitis	Hemiplegia, Pericarditis, Weight loss	ORPHA:900
Primrose Syndrome	Sparse scalp hair, Hip contracture, Skeletal muscle atrophy, Ataxia, Absent facial hair, Synophry...	OMIM:259050
Familial Thrombocytosis	Weight loss	ORPHA:71493
Zollinger-Ellison Syndrome	Neuroendocrine neoplasm, Glucagonoma, Weight loss	ORPHA:913
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Flexion contracture, Weight loss	ORPHA:85408
Renal Nutcracker Syndrome	Weight loss	ORPHA:71273
Grfoma	Pheochromocytoma, Intestinal carcinoid, Weight loss	ORPHA:97261
Nijmegen Breakage Syndrome	Neurodegeneration, Glioma, Rhabdomyosarcoma	OMIM:251260
Primary Sclerosing Cholangitis	Generalized amyotrophy, Weight loss	ORPHA:171
Nocardiosis	Pericarditis, Abnormal heart valve morphology, Endocarditis, Weight loss	ORPHA:31204
Ppoma	Intestinal carcinoid, Weight loss	ORPHA:97278
Postinfectious Vasculitis	Cardiomyopathy, Bacterial endocarditis, Weight loss	ORPHA:48435
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Optic nerve compression, Abnormality of the extraocular muscles, Weight loss	ORPHA:79078
Vipoma	Ganglioneuroma, Weight loss	ORPHA:97282
Familial Pancreatic Carcinoma	Weight loss	ORPHA:1333
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss	ORPHA:309031
Marfan Syndrome	Skeletal muscle atrophy, Mitral valve calcification, Cachexia, Mitral valve prolapse, Slender build	ORPHA:558
Pulmonary Alveolar Microlithiasis	Mitral valve calcification, Weight loss	ORPHA:60025
Sarcoidosis, Susceptibility To, 1	Pericardial effusion, Optic neuropathy, Weight loss	OMIM:181000
Multiple Myeloma	Weight loss	ORPHA:29073
Stickler Syndrome	Skeletal muscle atrophy, Cachexia, Hemiplegia/hemiparesis, Mitral valve prolapse, Macroglossia, S...	ORPHA:828
Chronic Graft Versus Host Disease	Alopecia, Flexion contracture, Weight loss, Onycholysis, Nail dystrophy	ORPHA:99921
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Frontal balding, Failure to thrive, Hirsutism, Weight loss	ORPHA:90794
Tropical Pancreatitis	Weight loss	ORPHA:103918
Pancreatoblastoma	Weight loss	ORPHA:677
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis, Optic nerve compression	OMIM:259730
Somatostatinoma	Weight loss	ORPHA:97283
Malt Lymphoma	Weight loss	ORPHA:52417
Parathyroid Carcinoma	Weight loss	ORPHA:143
Glucagonoma	Weight loss	ORPHA:97280
Sarcoidosis	Alopecia, Facial palsy, Weight loss	ORPHA:797
Tropical Endomyocardial Fibrosis	Right ventricular cardiomyopathy, Left atrial enlargement, Cachexia, Cardiomegaly, Myocardial cal...	ORPHA:75565
Igg4-Related Kidney Disease	Pericarditis, Weight loss	ORPHA:449395
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Weight loss	OMIM:301074
Norrie Disease	Clonus, Cachexia, Optic atrophy, Hypertonia, Failure to thrive, Cerebral cortical atrophy	ORPHA:649
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Renal tubular epithelial necrosis, Weight loss	ORPHA:91500
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Immunodeficiency 82 With Systemic Inflammation	Weight loss	OMIM:619381
Goodpasture Syndrome	Weight loss	OMIM:233450
Coenzyme Q10 Deficiency, Primary, 5	Cerebellar atrophy, Cerebral atrophy, Hypertonia, Left ventricular hypertrophy, Decreased level o...	OMIM:614654

Histopathology

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

There is no histopathology data for Coq9

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Coq9.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Animal Models of Coenzyme Q Deficiency: Mechanistic and Translational Learnings.	Antioxidants (Basel, Switzerland) (October 2021)	Coq9^{tm1a(KOMP)Wtsi}	PMC8614664
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Coq9^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Coq9^{tm1a(KOMP)Wtsi}	PMC6459510
Reduction in the levels of CoQ biosynthetic proteins is related to an increase in lifespan without evidence of hepatic mitohormesis.	Scientific reports (September 2018)	Coq9^{tm1a(KOMP)Wtsi}	PMC6143522
CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome.	EMBO molecular medicine (January 2017)	Coq9^{tm1a(KOMP)Wtsi}	PMC5210161
The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene.	EMBO molecular medicine (May 2015)	Coq9^{tm1a(KOMP)Wtsi}	PMC4492823

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Coq9^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Coq9^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	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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