Gene: Lmo7 MGI:1353586

Gene Summary

Name:

LIM domain only 7

Synonyms:

FBXO20, LOC380928

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
increased circulating creatinine level		Lmo7^{em1(IMPC)Marc}	HOM		Early adult	1.85×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Lmo7 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 Lmo7 (0 diseases)
Human diseases predicted to be associated with Lmo7 (581 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Lmo7 by phenotypic similarity.

Disease	Matching phenotypes	Source
Lung Cancer	Non-small cell lung carcinoma, Alveolar cell carcinoma, Lung adenocarcinoma	OMIM:211980
Small Cell Cancer Of The Lung	Neoplasm of the lung	OMIM:182280
Tumor Predisposition Syndrome	Cutaneous melanoma, Meningioma, Lung adenocarcinoma, Renal cell carcinoma, Uveal melanoma	OMIM:614327
Azotemia, Familial	Azotemia	OMIM:109160
Bardet-Biedl Syndrome 13	Obesity, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal bloo...	OMIM:615990
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat...	OMIM:610599
Li-Fraumeni Syndrome	Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma...	OMIM:151623
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Myopathy, Abnormality of retinal pigmentation	ORPHA:2579
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Macular Dystrophy, Retinal, 2	Retinal pigment epithelial atrophy, Macular dystrophy, Granular macular appearance, Perifoveal ri...	OMIM:608051
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Retinopathy, Pericentral Pigmentary, Dominant	Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,...	OMIM:180210
Persistent Placoid Maculopathy	Choroidal neovascularization, Retinal pigment epithelial mottling, Hypoplasia of the fovea, Abnor...	ORPHA:97341
Sorsby Pseudoinflammatory Fundus Dystrophy	Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ...	ORPHA:59181
Central Areolar Choroidal Dystrophy	Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp...	ORPHA:75377
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:610445
Liberfarb Syndrome	Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment...	OMIM:618889
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Familial Drusen	Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular...	ORPHA:75376
Neuropathy, Ataxia, And Retinitis Pigmentosa	Myopathy, Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy	OMIM:551500
Retinitis Pigmentosa 30	Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy...	OMIM:607921
Retinitis Pigmentosa 69	Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:615780
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Retinitis Pigmentosa 47	Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:613758
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e...	OMIM:610359
Laurence-Moon Syndrome	Pigmentary retinopathy	OMIM:245800
Retinitis Pigmentosa 32	Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen...	OMIM:609913
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Ataxia-Tapetoretinal Degeneration Syndrome	Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:1178
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Oliver-Mcfarlane Syndrome	Retinal degeneration, Small for gestational age, Distal amyotrophy, Central heterochromia, Pigmen...	OMIM:275400
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy, Weakness of facial musculature, Limb muscle weakness, Internally nucleate...	OMIM:619473
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Progressive Bifocal Chorioretinal Atrophy	Macular atrophy, Chorioretinal dystrophy, Pigmentary retinopathy	ORPHA:75373
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Peripapillary atrophy, Hyperautofluorescent macular lesi...	OMIM:617123
Retinitis Pigmentosa 11	Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ...	OMIM:600138
Bothnia Retinal Dystrophy	Retinitis, Retinal degeneration, Retinal pigment epithelial mottling, Rod-cone dystrophy, Macular...	ORPHA:85128
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation, Ragged-red muscle fibers, Skeletal muscle atrophy	ORPHA:480
Inclusion Body Myositis	Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Quadriceps m...	ORPHA:611
Pigmented Paravenous Chorioretinal Atrophy	Vitreoretinopathy, Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy	OMIM:172870
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy	OMIM:614307
Cone-Rod Dystrophy 16	Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ...	OMIM:614500
Gne Myopathy	Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir...	ORPHA:602
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Rhabdoid Tumor Predisposition Syndrome 2	Neoplasm of the central nervous system, Carcinoma	OMIM:613325
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Retinopathy, Pigmentary retinopathy	OMIM:610951
Retinitis Pigmentosa 7	Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal blood v...	OMIM:608133
Retinitis Pigmentosa 87 With Choroidal Involvement	Nummular pigmentation of the fundus, Bone spicule pigmentation of the retina, Chorioretinal atrop...	OMIM:618697
Myopathy, Distal, 5	Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting	OMIM:617030
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Stargardt Disease	Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti...	ORPHA:827
Retinitis Pigmentosa 37	Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:611131
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fibers, Rimmed vacuol...	OMIM:618655
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cystoid macular edem...	OMIM:619007
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Abnormality of skin pigment...	OMIM:251270
Retinitis Pigmentosa 9	Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy	OMIM:180104
Nonaka Myopathy	EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, D...	OMIM:605820
Retinitis Pigmentosa 2	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312600
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Merrf	Optic atrophy, Myopathy, Ragged-red muscle fibers	ORPHA:551
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Retinitis Pigmentosa 4	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:613731
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Spinal muscular atrophy,...	OMIM:158600
Bietti Crystalline Dystrophy	Subretinal deposits, Retinal pigment epithelial mottling, Chorioretinal degeneration, Retinal pig...	ORPHA:41751
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy,...	ORPHA:49382
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia...	OMIM:304020
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e...	OMIM:601718
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Central Retinal Vein Occlusion	Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza...	ORPHA:411527
Microphthalmia, Isolated 5	Foveoschisis, Drusen, Abnormality of skin pigmentation, Optic disc drusen, Bone spicule pigmentat...	OMIM:611040
Colorectal Cancer, Susceptibility To, 12	Colorectal polyposis, Carcinoma	OMIM:615083
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Facial palsy	ORPHA:2743
Lichen Sclerosus Et Atrophicus	Squamous cell carcinoma, Carcinoma	OMIM:151590
Retinal Cone Dystrophy 4	Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:610478
Spinocerebellar Ataxia, Autosomal Recessive 29	Optic disc pallor, Retinal pigment epithelial mottling	OMIM:619389
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ...	ORPHA:206549
Usher Syndrome, Type Iv	Bone spicule pigmentation of the retina, Retinal degeneration, Hyperautofluorescent macular lesio...	OMIM:618144
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo...	OMIM:609115
Fanconi Renotubular Syndrome 5	Emphysema, Pulmonary fibrosis, Lung adenocarcinoma	OMIM:618913
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Congenital stationary night blindness with normal fundus, Co...	ORPHA:215
Mitochondrial Myopathy With Diabetes	Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakne...	OMIM:500002
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Skeletal muscle hypertrophy, Facial palsy, Reduced muscle fiber alpha dys...	ORPHA:370968
Retinitis Pigmentosa 1	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:180100
Hereditary Myopathy With Early Respiratory Failure	Necrotizing myopathy, Muscle fiber hypertrophy, Skeletal muscle atrophy, Internally nucleated ske...	ORPHA:178464
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Leber Congenital Amaurosis 2	Fundus atrophy, Pigmentary retinopathy	OMIM:204100
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel...	ORPHA:506353
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula...	OMIM:601954
Eem Syndrome	Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy	ORPHA:1897
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Increased intram...	OMIM:252011
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Retinopathy, Pigmentary, And Mental Retardation	Truncal obesity, Pigmentary retinopathy	OMIM:268050
Distal Myopathy, Welander Type	Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Intrinsic ...	ORPHA:603
Asbestos Intoxication	Lung adenocarcinoma, Interlobular septal thickening, Pleural thickening, Abnormal pulmonary inter...	ORPHA:2302
Retinitis Pigmentosa 41	Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst...	OMIM:612095
Bazex Syndrome	Liposarcoma, Neoplasm, Lung adenocarcinoma	ORPHA:166113
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Cone-Rod Dystrophy 3	Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye maculopathy, Pigmentary retin...	OMIM:604116
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Cofs Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Arthrogryposis multiplex congenita, Camptodac...	ORPHA:1466
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Increase...	OMIM:618848
Welander Distal Myopathy	Rimmed vacuoles, Distal amyotrophy	OMIM:604454
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma	ORPHA:2196
Retinitis Pigmentosa 46	Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:612572
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypoplasia of the fovea, Ocular albinism, White hair, Albini...	ORPHA:79435
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, EMG: myopathic abnormalities, ...	ORPHA:276435
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Quad...	OMIM:254110
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Bardet-Biedl Syndrome 3	Obesity, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:600151
Myopathy, Myofibrillar, 5	Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy	OMIM:609524
Glycogen Storage Disease Xiii	Increased muscle glycogen content	OMIM:612932
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Ramon Syndrome	Failure to thrive, Abnormality of retinal pigmentation	ORPHA:3019
Senior-Loken Syndrome	Retinal dystrophy, Abnormality of retinal pigmentation	ORPHA:3156
Spinocerebellar Ataxia 7	Optic atrophy, Macular degeneration, Pigmentary retinopathy	OMIM:164500
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:264470
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness, Facial hypotonia, Should...	ORPHA:266
Retinitis Pigmentosa 83	Vitreous floaters, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Cystoid macular e...	OMIM:618173
Retinitis Pigmentosa	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Obesity	ORPHA:791
Retinitis Pigmentosa 45	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degeneration	OMIM:613767
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Weakness of facial musculature...	ORPHA:457050
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnormal morphology of the abdominal m...	OMIM:615424
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormality of the optic disc	ORPHA:65
Leber Congenital Amaurosis 1	Fundus atrophy, Pigmentary retinopathy	OMIM:204000
Oculopharyngodistal Myopathy 2	Weakness of facial musculature, EMG: myopathic abnormalities, Rimmed vacuoles, Increased endomysi...	OMIM:618940
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Retinopathy, Generalized hyperpigmentation, Macular degenera...	ORPHA:816
Mitochondrial Myopathy, Infantile, Transient	Ragged-red muscle fibers, Increased muscle lipid content, Muscle fiber hypertrophy, Macroglossia,...	OMIM:500009
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Peripheral retinal atrophy, Macular atrophy, Photoreceptor layer loss on macular OCT, Retinal pig...	OMIM:145350
Retinitis Pigmentosa 43	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:613810
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Skeletal muscle hypertrophy, Macroglossia, Facial palsy, Congenital muscular dystrophy, Left vent...	OMIM:613156
Retinitis Pigmentosa 56	Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst...	OMIM:613581
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Alpha-B Crystallin-Related Late-Onset Myopathy	Autophagic vacuoles, Facial diplegia, EMG: myopathic abnormalities, Increased variability in musc...	ORPHA:399058
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Increased variabilit...	ORPHA:34516
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi...	ORPHA:609
Multiminicore Myopathy	Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo...	ORPHA:598
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Canavan Disease	Optic atrophy, Abnormality of retinal pigmentation, Flexion contracture	ORPHA:141
Diabetes And Deafness, Maternally Inherited	Retinal degeneration, Pigmentary retinopathy	OMIM:520000
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of facial mu...	OMIM:619477
Cone-Rod Dystrophy 8	Abnormality of the optic nerve, Abnormality of retinal pigmentation, Macular degeneration, Cone/c...	OMIM:605549
Zebra Body Myopathy	Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopathic abnormalities, Rimmed vacuoles, Ne...	ORPHA:97240
Myopathy, Distal, 1	Toe extensor amyotrophy, Ragged-red muscle fibers, Facial palsy, Rimmed vacuoles, Weakness of lon...	OMIM:160500
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1390
Posterior Column Ataxia With Retinitis Pigmentosa	Pigmentary retinopathy, Optic atrophy, Attenuation of retinal blood vessels, Skeletal muscle atro...	OMIM:609033
Nemaline Myopathy 2	Skeletal muscle atrophy, Foot dorsiflexor weakness, Weakness of facial musculature, Limb muscle w...	OMIM:256030
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed vacuoles, Mu...	OMIM:603511
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation, Camptodactyly of finger	ORPHA:2521
Oculopharyngeal Muscular Dystrophy	Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles	ORPHA:270
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atr...	OMIM:602772
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Inclusion Body Myositis	Rimmed vacuoles, Inflammatory myopathy	OMIM:147421
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613617
Melanoma-Pancreatic Cancer Syndrome	Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin...	OMIM:606719
Retinitis Pigmentosa 51	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613464
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Pelvic girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Shoulder girdle...	OMIM:608423
Myopathy, Myofibrillar, 3	Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Myofibrillar myopathy, ...	OMIM:609200
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Aganglionic megacolon, White eyelashes, White forelock, Abno...	ORPHA:897
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Retinal flecks, Leg muscle stiffness, Distal amyotrophy, Upper limb muscl...	ORPHA:100996
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Failure to thrive in infancy	ORPHA:858
Leber Congenital Amaurosis 15	Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy	OMIM:613843
Retinitis Pigmentosa 10	Geographic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:180105
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Abnormality of retinal pigmentation, Failure to thrive, Retinopathy, Chorioretinal atrophy, Abnor...	ORPHA:5
Central Core Disease Of Muscle	Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne...	OMIM:117000
Tubular Aggregate Myopathy	Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre...	ORPHA:2593
Oculocutaneous Albinism Type 2	Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hypoplasia of the fov...	ORPHA:79432
Narp Syndrome	Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d...	ORPHA:644
Distal Nebulin Myopathy	Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature...	ORPHA:399103
Leigh Syndrome With Leukodystrophy	Failure to thrive, Optic atrophy, Pigmentary retinopathy	ORPHA:255241
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy, Skeletal muscle atrophy, Weakness of facial musculature, Limb muscle weak...	ORPHA:329336
Oculocutaneous Albinism Type 1B	Abnormality of the optic nerve, Abnormality of retinal pigmentation, Hypoplasia of the fovea, Fre...	ORPHA:79434
Arthrogryposis, Distal, Type 5	Decreased muscle mass, Distal arthrogryposis, Firm muscles, Abnormality of retinal pigmentation, ...	OMIM:108145
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation	ORPHA:1433
Myofibrillar Myopathy 11	Z-band streaming, Generalized amyotrophy, Shoulder girdle muscle atrophy, EMG: myopathic abnormal...	OMIM:619178
Retinitis Pigmentosa 74	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation	ORPHA:1259
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities	OMIM:609283
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased serum creatinine, Decreased circulating renin level	OMIM:300539
Amyotrophic Lateral Sclerosis 20	Muscular dystrophy, Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies	OMIM:615426
Bardet-Biedl Syndrome 9	Retinal degeneration, Bone spicule pigmentation of the retina, Truncal obesity, Rod-cone dystroph...	OMIM:615986
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Vitreoretinochoroidopathy	Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, Retinal neova...	OMIM:193220
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Vacuolar Neuromyopathy	Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centrally nucleated skeleta...	OMIM:601846
Myopathy, Scapulohumeroperoneal	Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat...	OMIM:616852
Severe Early-Childhood-Onset Retinal Dystrophy	Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Granul...	ORPHA:364055
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Obesity, Abnormality of retinal pigmentation	ORPHA:3085
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities	Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp...	OMIM:618654
Mitochondrial Complex Iv Deficiency, Nuclear Type 18	Increased intramyocellular lipid droplets, Weakness of facial musculature	OMIM:619062
Nemaline Myopathy 4	Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Flexion contracture, Scapular win...	OMIM:609285
Acute Zonal Occult Outer Retinopathy	Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig...	ORPHA:284454
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Moderate Multiminicore Disease With Hand Involvement	Intrinsic hand muscle atrophy, Facial palsy, Type 1 muscle fiber predominance	ORPHA:178145
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Retinitis Punctata Albescens	Pigmentary retinopathy, Macular atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Ab...	ORPHA:52427
Muscular Dystrophy, Congenital, Merosin-Positive	Myopathy, Facial palsy, Shoulder girdle muscle weakness, Congenital muscular dystrophy, Flexion c...	OMIM:609456
Juvenile Paget Disease	Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus	ORPHA:2801
Myopathy, Autophagic Vacuolar, Infantile-Onset	Autophagic vacuoles, Myopathy	OMIM:609500
Enhanced S-Cone Syndrome	Vitreoretinopathy, Retinoschisis, Macular edema, Pigmentary retinopathy	OMIM:268100
Myopathy, Centronuclear, 1	Skeletal muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Flexion contracture, Cen...	OMIM:160150
Myopathy, Myosin Storage, Autosomal Dominant	Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centra...	OMIM:608358
Myopathy, X-Linked, With Postural Muscle Atrophy	Scapular winging, Flexion contracture, Rimmed vacuoles	OMIM:300696
Autosomal Recessive Progressive External Ophthalmoplegia	Optic atrophy, Myopathy, Ragged-red muscle fibers, Hand muscle weakness, Facial palsy, Optic neur...	ORPHA:254886
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Lower limb muscle weakness, Pigmentary retinopathy	OMIM:606721
Lethal Congenital Contracture Syndrome 5	Small for gestational age, Congenital contracture, Decreased nerve conduction velocity, Flexion c...	OMIM:615368
Childhood-Onset Nemaline Myopathy	Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ...	ORPHA:171439
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Pelvic girdle muscle weakness, Myopathy, Limb muscle weakness, Amyotrophic lateral sclerosis, Sho...	OMIM:167320
Distal Myopathy, Tateyama Type	Weakness of the intrinsic hand muscles, Calf muscle hypoplasia, EMG: myopathic abnormalities, Int...	ORPHA:488650
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1173
Myopathy, Myofibrillar, 2	Autophagic vacuoles, EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Fo...	OMIM:608810
Mucolipidosis Type Iv	Aplasia/Hypoplasia of the abdominal wall musculature, Abnormality of retinal pigmentation, Retino...	ORPHA:578
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Myopathy, Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle wea...	OMIM:300580
Finnish Upper Limb-Onset Distal Myopathy	Weakness of the intrinsic hand muscles, EMG: myopathic abnormalities, Joint contracture of the ha...	ORPHA:399086
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Proximal amyotrophy, Myopathy, Scapular winging, Muscle fiber splitting	OMIM:618129
Adult-Onset Nemaline Myopathy	Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, Increased variability in ...	ORPHA:171442
Cone-Rod Dystrophy 2	Macular hyperpigmentation, Bone spicule pigmentation of the retina, Retinal pigment epithelial at...	OMIM:120970
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy, Skeletal muscle atrophy, Skeletal myopathy, Weight loss, Knee flexion con...	ORPHA:3208
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Rimmed vacuoles, Increased variability...	OMIM:616924
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i...	OMIM:253601
Proximal Myopathy With Extrapyramidal Signs	Central core regions in muscle fibers, Optic atrophy, Centrally nucleated skeletal muscle fibers,...	ORPHA:401768
Leigh Syndrome	Failure to thrive, Optic atrophy, Pigmentary retinopathy	OMIM:256000
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Skeletal muscle atrophy	ORPHA:96
Miyoshi Muscular Dystrophy 1	Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ...	OMIM:254130
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:216866
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb mu...	OMIM:619042
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Abnormal respiratory motile cilium morphology, Recurrent sinopulmonary infections	OMIM:215520
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy	OMIM:219900
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Infantile-Onset X-Linked Spinal Muscular Atrophy	Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont...	ORPHA:1145
Pleuropulmonary Blastoma	Medulloblastoma, Rhabdomyosarcoma, Pleuropulmonary blastoma	OMIM:601200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S...	OMIM:619566
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Ankle flexion contracture, Muscular dystrophy, Increased endomysial connective tissue, Flexion co...	OMIM:617072
Striatonigral Degeneration, Infantile, Mitochondrial	Ragged-red muscle fibers	OMIM:500003
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Increased variability in muscle...	OMIM:613204
Tibial Muscular Dystrophy, Tardive	Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles	OMIM:600334
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Pelvic girdle muscle weakness, Achilles tendon contracture, Scapular winging, Quadriceps muscle w...	OMIM:603689
Tyrosinosis	Hypertyrosinemia	OMIM:276800
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Calf muscle hypertrophy, Rimmed vacuoles	OMIM:617760
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of retinal pigmentation, Cachexia, Skeletal muscle atrophy, Melanocytic nevus, Multip...	ORPHA:1969
Congenital Myopathy With Myasthenic-Like Onset	Myopathy, Minicore myopathy, Failure to thrive, Scapular winging, EMG: myopathic abnormalities, M...	ORPHA:424107
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy	Hand muscle weakness, Upper limb amyotrophy, Triceps weakness, Proximal lower limb amyotrophy, Sh...	ORPHA:437572
Congenital Muscular Dystrophy, Ullrich Type	Abnormal muscle fiber morphology, Torticollis, Generalized amyotrophy, EMG: myopathic abnormaliti...	ORPHA:75840
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Chorioretinal coloboma, Generalized hyperpigmentation, Melan...	ORPHA:2481
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Myopathy, Distal, 3	Joint contracture of the hand, EMG: myopathic abnormalities, Rimmed vacuoles, Muscular dystrophy,...	OMIM:610099
Histidinemia	Hyperhistidinemia, Histidinuria	OMIM:235800
Bardet-Biedl Syndrome 17	Macular atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Rod-cone dystroph...	OMIM:615994
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Blotching pigmentation of the skin, Mottled pigmentation of photoexposed areas, Failure to thrive...	OMIM:560000
Mitochondrial Trifunctional Protein Deficiency	Myopathy, Small for gestational age, Failure to thrive, Pigmentary retinopathy, Rhabdomyolysis	OMIM:609015
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Myopathy, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Rimmed ...	OMIM:612937
Tubulointerstitial Nephritis With Uveitis	Elevated circulating creatinine concentration	OMIM:607665
Joubert Syndrome 8	Obesity, Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Ankle flexion contracture, Type 2 muscle fiber atrophy, Generalized amyotrophy, Facial palsy, Abs...	OMIM:617519
Spastic Paraplegia Type 7	Optic atrophy, Optic disc pallor, Ragged-red muscle fibers, Upper limb muscle weakness, Lower lim...	ORPHA:99013
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Colorectal Cancer, Susceptibility To, 10	Endometrial carcinoma, Colorectal polyposis, Carcinoma	OMIM:612591
Neuromuscular Oculoauditory Syndrome	Retinal pigment epithelial mottling, EMG: myopathic abnormalities, Knee flexion contracture, Wris...	OMIM:618733
Myopathy, Congenital Proximal, With Minicore Lesions	Minicore myopathy, Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated sk...	OMIM:618823
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Myopathy, Triceps weakness, Generalized amyotrophy, Left ventricular hypertrophy, Muscular dystro...	ORPHA:86812
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Myasthenic Syndrome, Congenital, 14	Scapular winging, Ragged-red muscle fibers, Limb-girdle muscle weakness, Flexion contracture	OMIM:616228
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Weakness of facial musculature, Failure to thrive, Increased intramyocellular lipi...	OMIM:220110
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Myopathy, Abnormal auditory evoked potentials, Increased variability in muscle fib...	OMIM:125250
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2518
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Nemaline Myopathy 5	Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, N...	OMIM:605355
Congenital Rubella Syndrome	Abnormality of retinal pigmentation	ORPHA:290
Congenital Myasthenic Syndromes With Glycosylation Defect	Myopathy, Ragged-red muscle fibers, Muscle fiber tubular inclusions, Facial palsy, Knee flexion c...	ORPHA:353327
Cohen Syndrome	Optic atrophy, Chorioretinal dystrophy, Small for gestational age, Bull's eye maculopathy, Facial...	OMIM:216550
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Weakness of facial musculature, Increased intramyocellular lipid droplets, EMG...	ORPHA:502423
Adrenocortical Carcinoma	Adrenocortical carcinoma, Lung adenocarcinoma	ORPHA:1501
Lowry-Wood Syndrome	Small for gestational age, Elbow flexion contracture, Pigmentary retinopathy	OMIM:226960
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Amyotroph...	OMIM:613954
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in lower limbs, Internally nucleated skeletal muscle fibers, Decreased n...	OMIM:618138
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Myopathy, Ragged-red muscle fibers	OMIM:545000
Joubert Syndrome 3	Retinal dystrophy, Pigmentary retinopathy	OMIM:608629
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Joint contracture of the hand, Proximal muscle weakness in upper limbs, Proximal upper limb amyot...	ORPHA:466768
Legius Syndrome	Non-small cell lung carcinoma, Ovarian neoplasm, Vestibular Schwannoma, Desmoid tumors, Acute mon...	ORPHA:137605
Refsum Disease	Abnormality of retinal pigmentation, Skeletal muscle atrophy, Retinopathy	ORPHA:773
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:268020
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Abnormal sensory nerve conduction ve...	ORPHA:88628
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Optic atrophy, Ragged-red muscle fibers, Generalized amyotrophy, Facial palsy, EMG: myopathic abn...	OMIM:258450
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Retinal degeneration, Pigmentary retinopathy	ORPHA:79264
Ullrich Congenital Muscular Dystrophy 1	Reduced muscle collagen VI, Torticollis, Failure to thrive, Slender build, Generalized amyotrophy...	OMIM:254090
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo...	OMIM:609560
Muscular Dystrophy, Limb-Girdle, Type 1H	Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder girdle muscle atrophy, C...	OMIM:613530
Vici Syndrome	Abnormal macular morphology, Optic atrophy, Abnormality of retinal pigmentation, Hypopigmentation...	ORPHA:1493
Bardet-Biedl Syndrome	Obesity, Skeletal muscle atrophy, Pigmentary retinopathy	ORPHA:110
Salih Myopathy	Myopathy, Facial palsy, Calf muscle hypertrophy, Flexion contracture, Centrally nucleated skeleta...	OMIM:611705
Opsoclonus-Myoclonus Syndrome	Neuroblastoma, Neoplasm of the lung, Neoplasm, Breast carcinoma, Ovarian teratoma, Small cell lun...	ORPHA:1183
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Scapular winging, EMG: ...	ORPHA:353
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Myopathy, Skeletal muscle atrophy, Myositis, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc...	OMIM:615422
Dpm3-Cdg	Muscular dystrophy, Pelvic girdle muscle weakness, Calf muscle hypertrophy, Rimmed vacuoles	ORPHA:263494
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter	OMIM:618992
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Increased variability in muscle fiber diameter, Flexion contracture	OMIM:300717
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Preeclampsia	Elevated circulating creatinine concentration	ORPHA:275555
Combined Oxidative Phosphorylation Deficiency 6	Ragged-red muscle fibers, Skeletal muscle atrophy	OMIM:300816
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, EMG: ...	ORPHA:171433
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Weakness of facial musculature, Arthrogryposis multiplex congenita, Fl...	OMIM:618484
Nemaline Myopathy 3	Limb muscle weakness, Slender build, Facial palsy, EMG: myopathic abnormalities, Arthrogryposis m...	OMIM:161800
Minicore Myopathy With External Ophthalmoplegia	Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Faci...	OMIM:255320
Hypouricemia, Renal, 2	Hypouricemia	OMIM:612076
Severe Oculo-Renal-Cerebellar Syndrome	Hypopigmented skin patches, Abnormal retinal vascular morphology, Abnormality of retinal pigmenta...	ORPHA:2715
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Myopathy, Ragged-red muscle fibers, Increased muscle lipid content, Macroglossia, Increased muscl...	ORPHA:254864
Kearns-Sayre Syndrome	Ragged-red muscle fibers, Pigmentary retinopathy	OMIM:530000
Distal Myotilinopathy	Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Multiple joint contractures, Distal...	ORPHA:98911
Myopathy, Tubular Aggregate, 1	Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscle...	OMIM:160565
Bethlem Myopathy 2	Scapular winging, Myopathy, Increased variability in muscle fiber diameter, Flexion contracture	OMIM:616471
Peroxisome Biogenesis Disorder 2A (Zellweger)	Failure to thrive, Brushfield spots, Joint contracture of the hand, Pigmentary retinopathy, Campt...	OMIM:214110
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Failure to thrive in infancy, Increased intramyocellular lipid droplets, Increased variability in...	OMIM:619065
Congenital Multicore Myopathy With External Ophthalmoplegia	Muscle fiber hypertrophy, Abnormal skeletal muscle morphology, Skeletal muscle atrophy, Internall...	ORPHA:98905
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Myopathy, Proximal, With Ophthalmoplegia	Scapular winging, Myopathy, Congenital contracture, Muscle fiber inclusion bodies	OMIM:605637
Central Core Disease	Central core regions in muscle fibers, Pelvic girdle muscle weakness, Myopathy, Multiple joint co...	ORPHA:597
Dermatomyositis	Gastrointestinal stroma tumor, Lung adenocarcinoma, Neoplasm, Lymphoma, Breast carcinoma, Abnorma...	ORPHA:221
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter	ORPHA:1878
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia	OMIM:242050
Zika Virus Disease	Macular atrophy, Optic disc hypoplasia, Abnormality of the optic disc, Retinal pigment epithelial...	ORPHA:448237
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Obesity, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:2235
Peroxisome Biogenesis Disorder 5A (Zellweger)	Failure to thrive, Brushfield spots, Pigmentary retinopathy, Camptodactyly, Optic nerve dysplasia	OMIM:614866
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Skeletal myopathy, Left ventricular hypertrophy, Pigmentary retinop...	ORPHA:746
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Rod-cone dystrophy, Limb-girdle muscular dystrophy, Calf muscle pseudohypertrophy,...	ORPHA:96180
Congenital Bile Acid Synthesis Defect Type 4	Rhabdomyolysis, Pigmentary retinopathy	ORPHA:79095
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Failure to thrive, Optic atrophy, Skeletal muscle steatosis, Pigmentary retinopathy	ORPHA:436271
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Ragged-red muscle fibers, Skeletal muscle atrophy	OMIM:617070
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Myopathy, Myofibrillar, 7	Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle...	OMIM:617114
Myopathy, Congenital, With Fiber-Type Disproportion	Limb joint contracture, Failure to thrive, Facial palsy, Type 1 fibers relatively smaller than ty...	OMIM:255310
Mulibrey Nanism	Pigmentary retinopathy	OMIM:253250
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting	OMIM:609452
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
Adult-Onset Distal Myopathy Due To Vcp Mutation	Necrotizing myopathy, Weakness of the intrinsic hand muscles, Facial diplegia, EMG: myopathic abn...	ORPHA:329478
Bethlem Myopathy	Multiple joint contractures, Interphalangeal joint contracture of finger, Ankle flexion contractu...	ORPHA:610
Rigid Spine Muscular Dystrophy 1	Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Failure to thrive, Generalize...	OMIM:602771
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy	OMIM:607855
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ...	ORPHA:98855
Myopathy, Myosin Storage, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy...	OMIM:255160
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Minicore myopathy, Limb muscle weakness, EMG: myopathic abnormalitie...	ORPHA:486815
Usher Syndrome	Myopathy, Abnormality of retinal pigmentation, Vestibular areflexia	ORPHA:886
Multiple Sulfatase Deficiency	Abnormality of peripheral nerve conduction, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:585
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy, Increased variability in muscle fiber diameter, Distal amyotrophy	OMIM:617675
Classic Multiminicore Myopathy	Increased muscle lipid content, Weakness of facial musculature, Right ventricular hypertrophy, Fa...	ORPHA:324604
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Decreased muscle mass, Type 2 muscle fiber atrophy, Skeletal muscle atrophy, Facial palsy, Arthro...	OMIM:608931
Creatine Phosphokinase, Elevated Serum	Abnormal muscle fiber morphology, Myopathy, EMG: myopathic abnormalities, Muscular dystrophy, Inf...	OMIM:123320
Laing Early-Onset Distal Myopathy	Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle tissue, Toe extensor amy...	ORPHA:59135
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ...	ORPHA:98863
Scapuloperoneal Spinal Muscular Atrophy	Peroneal muscle atrophy, Scapuloperoneal amyotrophy, Scapular muscle atrophy, Torticollis, Progre...	OMIM:181405
Myopathy, Centronuclear, 2	Generalized amyotrophy, EMG: myopathic abnormalities, Facial palsy, Scapular winging, Flexion con...	OMIM:255200
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating creatinine concentration	OMIM:613095
Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ...	ORPHA:98853
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers	ORPHA:663
Myopathic Ehlers-Danlos Syndrome	Contractures involving the joints of the feet, Decreased muscle mass, Ankle flexion contracture, ...	ORPHA:536516
Wolfram Syndrome 1	Optic atrophy, Pigmentary retinopathy	OMIM:222300
Mucopolysaccharidosis, Type Ii	Macroglossia, Papilledema, Abnormality of retinal pigmentation, Flexion contracture	OMIM:309900
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Weakness of the intrinsic hand muscles, Triceps weakness, Hip flexor wea...	ORPHA:98913
Neutral Lipid Storage Disease With Myopathy	Myopathy, Increased muscle lipid content	OMIM:610717
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness	OMIM:603034
Aceruloplasminemia	Torticollis, Abnormality of retinal pigmentation, Retinal degeneration, Macular degeneration	ORPHA:48818
Micro Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Retinal coloboma	ORPHA:2510
Cancer-Associated Retinopathy	Cutaneous melanoma, Malignant genitourinary tract tumor, Neoplasm of the breast, Hodgkin lymphoma...	ORPHA:71505
Amish Nemaline Myopathy	Proximal amyotrophy, Shoulder flexion contracture, Hip contracture, EMG: myopathic abnormalities,...	ORPHA:98902
Combined Oxidative Phosphorylation Deficiency 28	Ragged-red muscle fibers	OMIM:616794
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Abnormal motor neuron morphology, Cranial nerve compression, Generalized amyotrophy, EMG: myopath...	ORPHA:52430
Xeroderma Pigmentosum, Complementation Group B	Freckling, Optic atrophy, Decreased nerve conduction velocity, Pigmentary retinopathy	OMIM:610651
Cap Myopathy	Abnormal muscle fiber morphology, Generalized amyotrophy, Facial palsy, Increased variability in ...	ORPHA:171881
Hereditary Continuous Muscle Fiber Activity	Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Ullrich Congenital Muscular Dystrophy 2	Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus...	OMIM:616470
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va...	OMIM:619518
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Right ventricular hypertrophy, Muscular dystrophy, Muscle fiber necrosis...	OMIM:253700
King-Denborough Syndrome	Minicore myopathy, Weakness of facial musculature, Failure to thrive, Muscle fiber atrophy, Centr...	OMIM:619542
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Muscle fiber atrophy, Muscular dystrophy, Myopathy, Limb-girdle muscular dystrophy	ORPHA:369840
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Macular atrophy, Abnormality of retinal pigmentation, Retinal thinning, Cone/cone-rod dystrophy, ...	ORPHA:85167
Nephronophthisis 2	Hyperkalemia, Elevated circulating creatinine concentration	OMIM:602088
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Abnormal muscle fiber protein expression	ORPHA:330054
X-Linked Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Necklace skeletal muscle fibers, Type 1 fibers relati...	ORPHA:596
Combined Oxidative Phosphorylation Defect Type 13	Ankle flexion contracture, Type 2 muscle fiber atrophy, Hip contracture, Failure to thrive, Decre...	ORPHA:319514
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Decreased muscle glycogen content	OMIM:611556
Muscular Hypoplasia, Congenital Universal, Of Krabbe	Abnormal muscle fiber morphology, Hypoplasia of the musculature	OMIM:159100
Histidinemia	Hyperhistidinemia, Histidinuria	ORPHA:2157
Cohen Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Chorioretinal dystrophy, Failure to thrive in...	ORPHA:193
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular winging, Left ve...	ORPHA:169186
Marinesco-Sjogren Syndrome	Myopathy, Skeletal muscle atrophy, Failure to thrive, Rimmed vacuoles, Flexion contracture, Centr...	OMIM:248800
Werner Syndrome	Abnormality of retinal pigmentation, Skeletal muscle atrophy, Slender build, White forelock, Prem...	ORPHA:902
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Decreased muscle mass, Cachexia, Ragged-red muscle fib...	ORPHA:298
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Myopathy, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of po...	OMIM:310300
Coffin-Lowry Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Skeletal muscle atrophy	ORPHA:192
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Increased endomysial connective tissue, Minicore myopathy, Arthrogryposis multiplex congenita, Fl...	ORPHA:178148
Combined Oxidative Phosphorylation Deficiency 12	Failure to thrive, Ragged-red muscle fibers	OMIM:614924
Prolidase Deficiency	White forelock, Abnormality of retinal pigmentation	ORPHA:742
Myopathy, Myofibrillar, 8	Central core regions in muscle fibers, Limb muscle weakness, Achilles tendon contracture, General...	OMIM:617258
Pantothenate Kinase-Associated Neurodegeneration	Toe extensor amyotrophy, Optic atrophy, Retinal degeneration, Bull's eye maculopathy, Retinal fle...	ORPHA:157850
Cockayne Syndrome Type 1	Contractures involving the joints of the feet, Optic atrophy, Failure to thrive, Absent brainstem...	ORPHA:90321
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Ragged-red muscle fibers, Failure to thrive, Rod-cone dystrophy, Pigmentary retino...	ORPHA:255210
Sickle Cell Anemia	Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia	ORPHA:232
Relapsing Fever	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:91547
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Macroglossia, Failure to thrive, Brushfield spots, Pigmentary retinopathy	OMIM:214100
Autosomal Dominant Cerebellar Ataxia	Skeletal muscle atrophy, Retinal degeneration, Torticollis, Macular degeneration, Pigmentary reti...	ORPHA:99
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Failure to thrive, Pigmentary retinopathy	ORPHA:71212
Benign Samaritan Congenital Myopathy	Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers	ORPHA:324581
Retinoblastoma	Retinal calcification, Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrh...	ORPHA:790
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Ragged-red muscle fibers, Skeletal muscle atrophy, Achilles tendon contracture, EMG: myopathic ab...	OMIM:615418
Ramon Syndrome	Decreased body weight, Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in lower limbs, Abnormality of the foot musculature, EMG: myopathic abno...	ORPHA:169189
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Myopathy, EMG: myopathic abnormalities, Decreased nerve conduction velocity, Increased variabilit...	ORPHA:397744
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Decreased motor nerve conduction velocity, Failure to thrive in infancy, Decreased sensory nerve ...	OMIM:619026
Myopathy, Centronuclear, 4	Centrally nucleated skeletal muscle fibers	OMIM:614807
Arthrogryposis Multiplex Congenita 6	Nemaline bodies, Neonatal death, Arthrogryposis multiplex congenita, Increased variability in mus...	OMIM:619334
Alstrom Syndrome	Cone/cone-rod dystrophy, Truncal obesity, Pigmentary retinopathy	OMIM:203800
Coenzyme Q10 Deficiency, Primary, 1	Ragged-red muscle fibers, Rod-cone dystrophy	OMIM:607426
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers	OMIM:540000
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Vitiligo, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy	OMIM:240300
Melas	Optic atrophy, Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Myopathy, Failur...	ORPHA:550
Khan-Khan-Katsanis Syndrome	Failure to thrive, Flexion contracture, Pigmentary retinopathy	OMIM:618460
Hypokalemic Periodic Paralysis	Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets	ORPHA:681
Combined Oxidative Phosphorylation Defect Type 27	Ragged-red muscle fibers	ORPHA:477774
Lambert-Eaton Myasthenic Syndrome	Small cell lung carcinoma	ORPHA:43393
Greig Cephalopolysyndactyly Syndrome	Abnormal muscle fiber morphology, Camptodactyly of toe, Joint contracture of the hand	OMIM:175700
Glycogen Storage Disease Due To Aldolase A Deficiency	Decreased muscle mass, Viral infection-induced rhabdomyolysis, Skeletal myopathy, EMG: myopathic ...	ORPHA:57
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Centrally nucleated skeletal muscle fibers, Muscular dystrophy	OMIM:617066
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hyperlipidemia	OMIM:235400
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration	OMIM:614376
Vocal Cord And Pharyngeal Distal Myopathy	Abnormal morphology of musculature of pharynx, Distal upper limb amyotrophy, Amyotrophic lateral ...	ORPHA:600
Abetalipoproteinemia	Myopathy, Abnormality of retinal pigmentation, Failure to thrive, Hypopigmentation of the fundus,...	ORPHA:14
Trisomy 18	Congenital diaphragmatic hernia, Abnormality of retinal pigmentation, Cachexia, Camptodactyly of ...	ORPHA:3380
Immune-Mediated Necrotizing Myopathy	Proximal muscle weakness in lower limbs, Myopathy, Skeletal muscle atrophy, Myositis, EMG: myopat...	ORPHA:206569
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy	OMIM:612582
Amyotrophic Lateral Sclerosis 21	Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Shoulder girdle muscle weakne...	OMIM:606070
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration	ORPHA:79126
Aicardi Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Chorioretinal coloboma, Abnormality of skin p...	ORPHA:50
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Myopathy, Ragged-red muscle fibers, Generalized amyotrophy, Weakness of facial musculature	ORPHA:352447
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration	ORPHA:90060
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Failure to thrive, Pigmentary retinopathy	OMIM:277400
Typical Nemaline Myopathy	Myopathy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Flexion contracture,...	ORPHA:171436
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Myopathy, Skeletal muscle atrophy, Failure to thrive, Abnormal muscle glycogen content, Abnormal ...	ORPHA:367
Microphthalmia With Linear Skin Defects Syndrome	Hypopigmented skin patches, Abnormality of retinal pigmentation, Retinal dysplasia, Abnormality o...	ORPHA:2556
Cockayne Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Limb hypertonia, Skeletal ...	ORPHA:191
Classic Homocystinuria	Retinal detachment, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:394
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Ragged-red muscle fibers, Skeletal muscle atrophy, Limb muscle weakness, Facial palsy, EMG: myopa...	OMIM:157640
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Flexi...	ORPHA:171430
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Failure to thrive, Ragged-red muscle fibers, Rod-cone dystrophy, Rhabdomyolysis	OMIM:124000
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Abnormality of the optic nerve, Abnormality of retinal pigmentation, Optic atrophy, Retinal dyspl...	ORPHA:2526
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Increased variability in muscle fibe...	OMIM:616867
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Retinal degeneration, Failure to thrive, Macular coloboma, Abnormality of macular ...	ORPHA:79282
Cystinosis, Nephropathic	Myopathy, Failure to thrive in infancy, Skeletal muscle atrophy, Retinal pigment epithelial mottl...	OMIM:219800
Juvenile Amyotrophic Lateral Sclerosis	Contractures of the joints of the upper limbs, Cachexia, Skeletal muscle atrophy, Contractures of...	ORPHA:300605
Mucopolysaccharidosis Type 2	Optic atrophy, Abnormality of retinal pigmentation, Retinal degeneration, Macroglossia, Decreased...	ORPHA:580
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Facial palsy, Abnormal muscle fiber morphology, Skeletal muscle atrophy	ORPHA:3068
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Macroglossia, Optic atrophy, Abnormality of retinal pigmentation, Flexion contracture	ORPHA:505248
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Ragged-red muscle fibers, Weight loss, Slender build, Distal amyotrophy	OMIM:603041
Cartilage-Hair Hypoplasia	Failure to thrive, Aplasia/Hypoplasia of the abdominal wall musculature, Aganglionic megacolon, A...	ORPHA:175
Combined Oxidative Phosphorylation Deficiency 49	Ragged-red muscle fibers	OMIM:619024
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Limb muscle weakness, Muscular dystrophy, Centrally nucleated skeletal m...	OMIM:616812
Neurodegeneration With Brain Iron Accumulation 1

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