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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 (649 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, Lung adenocarcinoma, Alveolar cell carcinoma	OMIM:211980
Small Cell Cancer Of The Lung	Neoplasm of the lung	OMIM:182280
Tumor Predisposition Syndrome 1	Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena...	OMIM:614327
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy	OMIM:215500
Lymphangioleiomyomatosis	Pulmonary lymphangiomyomatosis	OMIM:606690
Retinitis Pigmentosa 36	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:610599
Night Blindness, Congenital Stationary, Type 1D	Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne...	OMIM:613830
Bardet-Biedl Syndrome 13	Obesity, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone ...	OMIM:615990
Leber Congenital Amaurosis 13	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:612712
Li-Fraumeni Syndrome	Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino...	OMIM:151623
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation, Myopathy	ORPHA:2579
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1852
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
Choroideremia	Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm...	OMIM:303100
Retinitis Pigmentosa 39	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613809
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:610445
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor...	ORPHA:97341
Macular Dystrophy, Retinal, 2	Granular macular appearance, Perifoveal ring of hyperautofluorescence, Macular dystrophy, Retinal...	OMIM:608051
Retinopathy, Pericentral Pigmentary, Dominant	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ...	OMIM:180210
Sorsby Pseudoinflammatory Fundus Dystrophy	Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H...	ORPHA:59181
Central Areolar Choroidal Dystrophy	Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular...	ORPHA:75377
Homocarnosinosis	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:236130
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi...	ORPHA:75376
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Retinitis Pigmentosa 30	Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta...	OMIM:607921
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Retinitis Pigmentosa 57	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:613582
Retinitis Pigmentosa 47	Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy	OMIM:613758
Neuropathy, Ataxia, And Retinitis Pigmentosa	Myopathy, Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy	OMIM:551500
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Retinitis Pigmentosa 33	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:610359
Retinitis Pigmentosa 32	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor...	OMIM:609913
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Cone-Rod Dystrophy 5	Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:600977
Retinitis Pigmentosa 54	Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina...	OMIM:613428
Polyglucosan Body Myopathy 2	Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe...	OMIM:616199
Retinitis Pigmentosa 62	Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re...	OMIM:614181
Retinitis Pigmentosa 81	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617871
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Retinitis Pigmentosa 61	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:614180
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Retinitis Pigmentosa 95	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:620102
Retinitis Pigmentosa 40	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613801
Myopathy, Distal, With Rimmed Vacuoles	Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ...	OMIM:617158
Retinitis Pigmentosa 76	Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede...	OMIM:617123
Progressive Bifocal Chorioretinal Atrophy	Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy	ORPHA:75373
Oculopharyngodistal Myopathy 3	Rimmed vacuoles, Increased variability in muscle fiber diameter, Pigmentary retinopathy, Distal a...	OMIM:619473
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Distal amyotrophy, Central heterochromia, Retinal degeneration, Small for...	OMIM:275400
Retinitis Pigmentosa 11	Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,...	OMIM:600138
Retinitis Pigmentosa 4	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme...	OMIM:613731
Retinitis Pigmentosa 7	Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dys...	OMIM:608133
Bothnia Retinal Dystrophy	Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro...	ORPHA:85128
Leber Congenital Amaurosis With Early-Onset Deafness	Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration	OMIM:617879
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Abnormality of retinal pigmentation, Ragged-red muscle fibers	ORPHA:480
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy	OMIM:172870
Nystagmus 6, Congenital, X-Linked	Hypopigmentation of the fundus, Retinal pigment epithelial mottling	OMIM:300814
Retinitis Pigmentosa 68	Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615725
Inclusion Body Myositis	Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg...	ORPHA:611
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Pigmentary retinopathy, Retinopathy	OMIM:610951
Retinitis Pigmentosa 27	Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior...	OMIM:613750
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream...	OMIM:618655
Gne Myopathy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ...	ORPHA:602
Retinitis Pigmentosa 9	Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy	OMIM:180104
Cone-Rod Dystrophy 16	Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ...	OMIM:614500
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ...	OMIM:618697
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Cone-Rod Dystrophy 24	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod...	OMIM:620342
Retinitis Pigmentosa 90	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:619007
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Retinitis Pigmentosa 80	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:617781
Retinitis Pigmentosa 84	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:618220
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal fold, Abnormality of retinal pigmentation, Retinal detachment, Abnormality of skin pigmen...	OMIM:251270
Retinitis Pigmentosa 88	Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p...	OMIM:618826
Bietti Crystalline Dystrophy	Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a...	ORPHA:41751
Retinitis Pigmentosa 19	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:601718
Nonaka Myopathy	Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower...	OMIM:605820
Stargardt Disease	Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R...	ORPHA:827
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Achromatopsia	Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo...	ORPHA:49382
Retinitis Pigmentosa 6	Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy	OMIM:312612
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Malignan...	ORPHA:2302
Retinal Cone Dystrophy 4	Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:610478
Fanconi Renotubular Syndrome 5	Emphysema, Pulmonary fibrosis, Lung adenocarcinoma	OMIM:618913
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat...	OMIM:600059
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti...	ORPHA:411527
Merrf	Optic atrophy, Ragged-red muscle fibers, Myopathy	ORPHA:551
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia...	OMIM:304020
Hereditary Myopathy With Early Respiratory Failure	Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m...	ORPHA:178464
Retinitis Pigmentosa 79	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617460
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Spinocerebellar Ataxia, Autosomal Recessive 29	Optic disc pallor, Retinal pigment epithelial mottling	OMIM:619389
Microphthalmia, Isolated 5	Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat...	OMIM:611040
Spinal Muscular Atrophy, Type Iv	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:271150
Retinitis Pigmentosa 73	Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret...	OMIM:616544
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s...	ORPHA:506353
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Congenital Stationary Night Blindness	Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness...	ORPHA:215
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Facial palsy, Abnormality of retinal pigmentation	ORPHA:2743
Myopathy, Distal, 5	Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m...	OMIM:617030
Leber Congenital Amaurosis 2	Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, ...	OMIM:204100
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ...	OMIM:181400
Retinitis Pigmentosa 1	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:180100
Leber Congenital Amaurosis 8	Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapillaris atrophy, Chorioreti...	OMIM:613835
Newfoundland Rod-Cone Dystrophy	Bone spicule pigmentation of the retina, Retinal dystrophy	OMIM:607476
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w...	ORPHA:206549
Leber Congenital Amaurosis 9	Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal...	OMIM:608553
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:616108
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi...	OMIM:609115
Mitochondrial Myopathy With Diabetes	Weakness of orbicularis oculi muscle, Limb muscle weakness, Ragged-red muscle fibers, Proximal am...	OMIM:500002
Congenital Muscular Dystrophy With Intellectual Disability	Abnormality of the tongue muscle, Pigmentary retinopathy, Reduced muscle fiber alpha dystroglycan...	ORPHA:370968
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Small for gestational age, Retinal degeneration	ORPHA:3363
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Retinitis Pigmentosa 86	Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,...	OMIM:618613
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Bazex Syndrome	Liposarcoma, Lung adenocarcinoma, Neoplasm	ORPHA:166113
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Retinitis Pigmentosa 41	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ...	OMIM:612095
Retinitis Pigmentosa 12	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:600105
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r...	OMIM:604116
Laurence-Moon Syndrome	Chorioretinal atrophy, Obesity, Pigmentary retinopathy	OMIM:245800
Myasthenic Syndrome, Congenital, 12	Proximal amyotrophy, Retinoschisis, Ragged-red muscle fibers, Facial palsy	OMIM:610542
Retinitis Pigmentosa 46	Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:612572
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Fatty re...	OMIM:618848
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Proximal muscle weakness in lower limbs, Facial palsy, Ragged-red muscle fibers	OMIM:616209
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Decreased motor ...	OMIM:620068
Retinitis Pigmentosa 2	Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degeneration, Rod-c...	OMIM:312600
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy, Failure to thrive, Myopathy	OMIM:618234
Welander Distal Myopathy	Rimmed vacuoles, Distal amyotrophy	OMIM:604454
Cofs Syndrome	Optic atrophy, Arthrogryposis multiplex congenita, Abnormality of retinal pigmentation, Camptodac...	ORPHA:1466
Bardet-Biedl Syndrome 3	Obesity, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Inclusion Body Myopathy And Brain White Matter Abnormalities	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:619733
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus...	OMIM:601954
Eem Syndrome	Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy	ORPHA:1897
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma	ORPHA:2196
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo...	ORPHA:266
Retinitis Pigmentosa 51	Macular degeneration, Obesity, Attenuation of retinal blood vessels, Bone spicule pigmentation of...	OMIM:613464
Distal Myopathy, Welander Type	Rimmed vacuoles, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Myopathy, Intrinsic han...	ORPHA:603
Lower Motor Neuron Syndrome With Late-Adult Onset	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs...	ORPHA:276435
Spinocerebellar Ataxia 7	Optic atrophy, Pigmentary retinopathy, Macular degeneration	OMIM:164500
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-...	OMIM:615424
Cone-Rod Dystrophy 20	Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy	OMIM:615973
Leber Congenital Amaurosis 1	Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc drusen	OMIM:204000
Retinitis Pigmentosa 83	Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous floaters, Cystoid macular edema...	OMIM:618173
Retinitis Pigmentosa 77	Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen...	OMIM:617304
Retinitis Pigmentosa 10	Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re...	OMIM:180105
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy, Left ventricular noncompaction, Ragged-red muscle fibers, ...	OMIM:252011
Myopathy, Sarcoplasmic Body	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620286
Retinitis Pigmentosa 43	Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re...	OMIM:613810
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Recurrent sinopulmonary infections, Abnormal respiratory motile cilium morphology	OMIM:215520
Ramon Syndrome	Abnormality of retinal pigmentation, Failure to thrive	ORPHA:3019
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Retinitis Pigmentosa 58	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:613617
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Retinitis Pigmentosa 56	Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig...	OMIM:613581
Myopathy, Myofibrillar, 5	Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting	OMIM:609524
Leber Congenital Amaurosis	Abnormal optic disc morphology, Abnormality of retinal pigmentation	ORPHA:65
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul...	OMIM:254110
Retinitis Pigmentosa 49	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:613756
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc...	ORPHA:457050
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle...	OMIM:617760
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of...	OMIM:145350
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul...	OMIM:619178
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Macular degeneration, Retinop...	ORPHA:816
Oculopharyngeal Muscular Dystrophy 1	Facial palsy, Limb muscle weakness, Ragged-red muscle fibers	OMIM:164300
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:264470
Retinitis Pigmentosa 25	Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret...	OMIM:602772
Jalili Syndrome	Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph...	OMIM:217080
Cone-Rod Dystrophy 8	Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Abnormali...	OMIM:605549
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Oculopharyngodistal Myopathy 2	Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ...	OMIM:618940
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con...	OMIM:608099
Myopathy, Distal, 7, Adult-Onset, X-Linked	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:301075
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy...	OMIM:608423
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1390
Canavan Disease	Optic atrophy, Flexion contracture, Abnormality of retinal pigmentation	ORPHA:141
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:300029
Tibial Muscular Dystrophy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	ORPHA:609
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ...	ORPHA:34516
Alpha-B Crystallin-Related Late-Onset Myopathy	Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu...	ORPHA:399058
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Pigmentary retinopathy, Joint contracture of the hand, Skeletal muscle atrophy, At...	OMIM:609033
Zebra Body Myopathy	Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo...	ORPHA:97240
Retinal Dystrophy With Or Without Macular Staphyloma	Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Bone spicule pigmentat...	OMIM:617547
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Scapular winging, Weakness of facial musculature, Angulated muscle fibers, Shoulder girdle muscle...	OMIM:619477
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation, Camptodactyly of finger	ORPHA:2521
Narp Syndrome	Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d...	ORPHA:644
Intellectual Developmental Disorder And Retinitis Pigmentosa	Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p...	OMIM:618195
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Distal amyotrophy, Upper limb muscle weakness, Leg muscle stiffness, Reti...	ORPHA:100996
Waardenburg-Shah Syndrome	Abnormal macular morphology, Premature graying of hair, White forelock, Abnormality of retinal pi...	ORPHA:897
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Failure to thrive, Chorioretinal atrophy, Abnormality of retinal pigmentation, Retinopathy, Abnor...	ORPHA:5
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Congenital Toxoplasmosis	Failure to thrive in infancy, Abnormality of retinal pigmentation	ORPHA:858
Myopathy, Distal, 1	Rimmed vacuoles, Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Type 1 muscle fiber p...	OMIM:160500
Myopathy, Myofibrillar, 3	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista...	OMIM:609200
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy, Weakness of facial musculature, Limb muscle weakness, Skeletal muscle atr...	ORPHA:329336
Bardet-Biedl Syndrome 6	Obesity, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy, Muscular dystrophy, Left ventricular hypertrophy, Macroglossia, Flexion c...	OMIM:613156
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl...	ORPHA:2593
Oculopharyngeal Muscular Dystrophy	Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Abnormal muscle fiber morphology	ORPHA:270
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle...	OMIM:117000
Pleuropulmonary Blastoma	Rhabdomyosarcoma, Pleuropulmonary blastoma, Medulloblastoma	OMIM:601200
Myopathy, Scapulohumeroperoneal	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal...	OMIM:616852
Myopathy, Centronuclear, 1	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl...	OMIM:160150
Amyotrophic Lateral Sclerosis 28	Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,...	OMIM:620452
Retinitis Pigmentosa 14	Optic disc pallor, Rod-cone dystrophy, Retinal arteriolar constriction, Bone spicule pigmentation...	OMIM:600132
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Inclusion Body Myositis	Rimmed vacuoles, Inflammatory myopathy	OMIM:147421
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty...	OMIM:616313
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Mitochondrial Myopathy, Infantile, Transient	Failure to thrive, Increased muscle lipid content, Hypertrophied muscle fibers, Ragged-red muscle...	OMIM:500009
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation	ORPHA:1259
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve...	ORPHA:364055
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic...	ORPHA:79434
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ...	OMIM:601846
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Arthrogryposis, Distal, Type 5	Firm muscles, Decreased muscle mass, Abnormality of retinal pigmentation, Distal arthrogryposis, ...	OMIM:108145
Cone-Rod Dystrophy 10	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:610283
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Decreased compound muscle a...	OMIM:603511
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Retinitis Pigmentosa 72	Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret...	OMIM:616469
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Bardet-Biedl Syndrome 9	Obesity, Attenuation of retinal blood vessels, Retinal degeneration, Bone spicule pigmentation of...	OMIM:615986
Nemaline Myopathy 2	Rimmed vacuoles, Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, N...	OMIM:256030
Multiminicore Myopathy	Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w...	ORPHA:598
Acute Zonal Occult Outer Retinopathy	Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar...	ORPHA:284454
Myopathy, Distal, Tateyama Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ...	OMIM:614321
Retinitis Punctata Albescens	Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ...	ORPHA:52427
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers	OMIM:609283
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi...	OMIM:618654
Congenital Myopathy 23	Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Type 1 muscle fi...	OMIM:609285
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy, Distal amyotrophy, Skeletal muscle atrophy, Knee flexion contracture, Ske...	ORPHA:3208
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Obesity, Abnormality of retinal pigmentation	ORPHA:3085
Retinitis Pigmentosa 60	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:613983
Retinitis Pigmentosa 74	Optic disc pallor, Obesity, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:616562
Choroidal Atrophy-Alopecia Syndrome	Patchy atrophy of the retinal pigment epithelium, Abnormality of retinal pigmentation	ORPHA:1433
Myasthenic Syndrome, Congenital, 14	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ...	OMIM:616228
Congenital Myopathy 3 With Rigid Spine	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:602771
Amyotrophic Lateral Sclerosis 20	Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy, Amyotrophic lateral sclerosis	OMIM:615426
Muscle Filaminopathy	Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Weakness of facial muscula...	ORPHA:171445
Sandhoff Disease, Adult Form	Proximal muscle weakness in lower limbs, Muscle fiber atrophy, Upper limb muscle weakness	ORPHA:309169
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc...	OMIM:608358
Congenital Myopathy 10A, Severe Variant	Increased variability in muscle fiber diameter, Failure to thrive, Camptodactyly of finger, Abnor...	OMIM:614399
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:618129
Tyrosinosis	Hypertyrosinemia	OMIM:276800
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
Vitreoretinochoroidopathy	Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio...	OMIM:193220
Juvenile Paget Disease	Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation	ORPHA:2801
Myopathy, X-Linked, With Postural Muscle Atrophy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri...	OMIM:300696
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1173
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,...	OMIM:167320
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Cone-Rod Dystrophy 2	Chorioretinal atrophy, Macular hyperpigmentation, Cone/cone-rod dystrophy, Bone spicule pigmentat...	OMIM:120970
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Pigmentary retinopathy, Weight loss, Rod-cone dystrophy	ORPHA:216866
Tibial Muscular Dystrophy, Tardive	Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ...	OMIM:600334
Retinitis Pigmentosa 75	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:617023
Leigh Syndrome, Nuclear	Optic atrophy, Pigmentary retinopathy, Failure to thrive	OMIM:256000
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ...	OMIM:620265
Autosomal Recessive Progressive External Ophthalmoplegia	Optic atrophy, Hand muscle weakness, Muscle fiber atrophy, Ragged-red muscle fibers, Myopathy, Op...	ORPHA:254886
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy, Aplasia/Hypoplasia of the abdominal wall muscul...	ORPHA:578
Proximal Myopathy With Extrapyramidal Signs	Centrally nucleated skeletal muscle fibers, Optic atrophy, Increased variability in muscle fiber ...	ORPHA:401768
Distal Myopathy, Tateyama Type	Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro...	ORPHA:488650
Myopathy, Autophagic Vacuolar, Infantile-Onset	Autophagic vacuoles, Myopathy	OMIM:609500
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy, Failure to thrive, Generalized limb muscle atrophy, Ragged-red muscle fib...	OMIM:600462
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Retinitis Pigmentosa 37	Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:611131
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber...	OMIM:608340
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Myopathy, Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Facial pals...	OMIM:300580
Rhabdomyolysis, Susceptibility To, 1	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ...	OMIM:620235
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Abnormality of retinal pigmentation	ORPHA:96
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe...	OMIM:616924
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus...	OMIM:620375
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele...	OMIM:253601
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele...	OMIM:253700
Retinitis Pigmentosa	Optic atrophy, Obesity, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation...	ORPHA:791
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou...	OMIM:603689
Myopathy, Myofibrillar, 2	Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower...	OMIM:608810
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Spastic Paraplegia Type 7	Optic atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Ragged-red muscle fibers, ...	ORPHA:99013
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Ragged-red muscle fibers, Scapular winging, Weakness of facial musculature	OMIM:617069
Familial Spontaneous Pneumothorax	Abnormal pleura morphology, Pneumothorax	ORPHA:2903
Finnish Upper Limb-Onset Distal Myopathy	Rimmed vacuoles, Joint contracture of the hand, Intrinsic hand muscle atrophy, Weakness of the in...	ORPHA:399086
Congenital Myopathy 20	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal...	OMIM:620310
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Lethal Congenital Contracture Syndrome 5	Centrally nucleated skeletal muscle fibers, Congenital contracture, Decreased nerve conduction ve...	OMIM:615368
Miyoshi Muscular Dystrophy 1	Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim...	OMIM:254130
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular...	OMIM:619566
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:612999
Congenital Myopathy 14	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle...	OMIM:618414
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Rimmed vacuoles, Increased variability in muscle fiber diameter, Flexion contracture, Muscle fibe...	OMIM:300718
Ciliary Dyskinesia, Primary, 6	Abnormal respiratory motile cilium morphology, Recurrent respiratory infections, Absent/shortened...	OMIM:610852
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ...	ORPHA:1145
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:618138
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Ullrich Congenital Muscular Dystrophy	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle...	ORPHA:75840
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration	OMIM:179830
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi...	OMIM:618823
Adrenocortical Carcinoma	Adrenocortical carcinoma, Lung adenocarcinoma	ORPHA:1501
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	ORPHA:86812
Zika Virus Disease	Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic...	ORPHA:448237
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy, Failure to thrive, Myopathy, Rhabdomyolysis, Small for gestational age	OMIM:609015
Chromosome 16Q12 Duplication Syndrome	Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial mottling, T...	OMIM:619649
Myopathy, Tubular Aggregate, 1	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn...	OMIM:160565
Congenital Myopathy 6 With Ophthalmoplegia	Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac...	OMIM:605637
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Retinal pigment epithelial mottling	OMIM:219900
Legius Syndrome	Acute monocytic leukemia, Vestibular schwannoma, Nephroblastoma, Multiple lipomas, Non-small cell...	ORPHA:137605
Neurocutaneous Melanocytosis	Chorioretinal coloboma, Melanocytic nevus, Generalized hyperpigmentation, Abnormality of retinal ...	ORPHA:2481
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Melanocytic nevus, Abnormality of retinal pigmentation, Cachexia, Multip...	ORPHA:1969
Histidinemia	Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia	OMIM:235800
Joubert Syndrome 8	Optic disc pallor, Obesity, Pigmentary retinopathy	OMIM:612291
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Muscular dystrophy, Pigmentary retinopathy, Increased endomysial connective tissue...	OMIM:613154
Neuromuscular Oculoauditory Syndrome	Retinal pigment epithelial mottling, Decreased amplitude of sensory action potentials, Decreased ...	OMIM:618733
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Skeletal ...	OMIM:620542
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Failure to thrive, Mottled pigmentation of photoexposed areas	OMIM:560000
Lowry-Wood Syndrome	Elbow flexion contracture, Pigmentary retinopathy, Small for gestational age	OMIM:226960
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ...	OMIM:612937
Congenital Myopathy 18	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatty...	OMIM:620246
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre...	OMIM:618484
Opsoclonus-Myoclonus Syndrome	Small cell lung carcinoma, Ovarian teratoma, Neoplasm, Melanoma, Neuroblastoma, Neoplasm of the l...	ORPHA:1183
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Bardet-Biedl Syndrome 17	Obesity, Cone/cone-rod dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, ...	OMIM:615994
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Congenital Multicore Myopathy With External Ophthalmoplegia	Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido...	ORPHA:98905
Retinitis Pigmentosa And Erythrocytic Microcytosis	Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess...	OMIM:616959
Night Blindness, Congenital Stationary, Type 1B	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:257270
Cone-Rod Dystrophy 6	Attenuation of retinal blood vessels, Chorioretinal atrophy, Cone/cone-rod dystrophy, Bone spicul...	OMIM:601777
Hypouricemia, Renal, 2	Hypouricemia	OMIM:612076
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2518
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:300578
Myopathy, Distal, 3	Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, EMG: myopa...	OMIM:610099
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:268020
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic atrophy, Pigmentary retinopathy, Failure to thrive, Limb joint contracture, Optic disc pallor	OMIM:617282
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration	OMIM:615605
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Abnormal sensory nerve conduction velocity, Flexion contracture of finger...	ORPHA:88628
Combined Oxidative Phosphorylation Deficiency 6	Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:300816
Muscular Dystrophy, Limb-Girdle, Type 1H	Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, C...	OMIM:613530
Congenital Myasthenic Syndromes With Glycosylation Defect	Generalized weakness of limb muscles, Type 1 muscle fiber predominance, Ragged-red muscle fibers,...	ORPHA:353327
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Pigmentary retinopathy, Retinal degeneration	ORPHA:79264
Congenital Rubella Syndrome	Abnormality of retinal pigmentation	ORPHA:290
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Ragged-red muscle fibers, Myopathy	OMIM:545000
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:617066
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	OMIM:611705
Cohen Syndrome	Optic atrophy, Bull's eye maculopathy, Chorioretinal dystrophy, Childhood-onset truncal obesity, ...	OMIM:216550
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt...	OMIM:608807
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia	OMIM:242050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy	OMIM:618992
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:617072
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Proximal muscle weakness in lower limbs, Joint contracture of the hand, Spinal muscular atrophy, ...	ORPHA:466768
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance...	OMIM:605355
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:613954
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine	OMIM:612736
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Oculopharyngodistal Myopathy 4	Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of facial musculature, ...	OMIM:619790
Refsum Disease	Abnormality of retinal pigmentation, Skeletal muscle atrophy, Retinopathy	ORPHA:773
Myopathy, X-Linked, With Excessive Autophagy	Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus...	OMIM:310440
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Increased variability in muscle fiber diameter, Pigmentary retinopathy, Weakness of facial muscul...	ORPHA:502423
Ullrich Congenital Muscular Dystrophy 1A	Increased variability in muscle fiber diameter, Muscular dystrophy, Failure to thrive, Slender bu...	OMIM:254090
Vici Syndrome	Optic atrophy, Hypopigmentation of the skin, Abnormality of retinal pigmentation, Abnormal macula...	ORPHA:1493
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis	OMIM:617070
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Skele...	OMIM:607459
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology, Hypopig...	ORPHA:2715
Joubert Syndrome 3	Pigmentary retinopathy, Retinal dystrophy	OMIM:608629
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Glycogen Storage Disease Ixd	Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes...	OMIM:300559
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Congenital Myopathy 1B, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	OMIM:255320
Hypouricemia, Renal, 1	Hypouricemia, Elevated circulating creatinine concentration	OMIM:220150
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim...	ORPHA:353
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:268315
Congenital Myopathy 4A, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Failure to thrive, Type 1 fibers relatively smaller t...	OMIM:255310
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe...	OMIM:615422
Kearns-Sayre Syndrome	Pigmentary retinopathy, Ragged-red muscle fibers	OMIM:530000
Congenital Myopathy 10B, Mild Variant	Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end...	OMIM:620249
Myopathy, Centronuclear, 4	Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance	OMIM:614807
Muscular Dystrophy, Congenital, Lmna-Related	Muscular dystrophy, Failure to thrive, Upper limb muscle weakness, Elbow contracture, Muscle fibe...	OMIM:613205
Central Core Disease	Nemaline bodies, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Central...	ORPHA:597
Dpm3-Cdg	Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Calf muscle hypertrophy	ORPHA:263494
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti...	OMIM:613157
Adult-Onset Distal Myopathy Due To Vcp Mutation	Rimmed vacuoles, Necrotizing myopathy, Decreased nerve conduction velocity, Facial diplegia, Foot...	ORPHA:329478
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy, Rhabdomyolysis	ORPHA:79095
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, EMG: myopathic abnormalities, Ge...	OMIM:609560
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss, Ragged-red muscle fibers	OMIM:613662
Mulibrey Nanism	Pigmentary retinopathy	OMIM:253250
Amyotrophic Lateral Sclerosis 21	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:606070
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Obesity, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:2235
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Pigmentary retinopathy, Failure to thrive, Skeletal muscle steatosis	ORPHA:436271
Peroxisome Biogenesis Disorder 2A (Zellweger)	Pigmentary retinopathy, Joint contracture of the hand, Failure to thrive, Optic nerve dysplasia, ...	OMIM:214110
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620138
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy, Lower limb muscle weakness, Failure to thrive in infancy, Rhabdomyolysis,...	ORPHA:746
Myopathy, Myofibrillar, 7	Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance...	OMIM:617114
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, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Pigmentary retinopathy, Limb-girdle muscular dystrophy, Decreased body weight, Rod...	ORPHA:96180
Myopathy, Myofibrillar, 4	Myofibrillar myopathy, Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities	OMIM:609452
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	ORPHA:486815
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
Usher Syndrome	Vestibular areflexia, Abnormality of retinal pigmentation, Myopathy	ORPHA:886
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Optic atrophy, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Muscle fi...	OMIM:258450
Multiple Sulfatase Deficiency	Optic atrophy, Abnormality of peripheral nerve conduction, Abnormality of retinal pigmentation	ORPHA:585
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy, Failure to thrive, Weakness of facial musculature, Increas...	OMIM:220110
Leber Congenital Amaurosis 15	Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Dull foveal ...	OMIM:613843
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Myopathy, Mitochondrial, And Ataxia	Increased variability in muscle fiber diameter, Pigmentary retinopathy, Distal amyotrophy	OMIM:617675
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy...	OMIM:255160
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:98855
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Cancer-Associated Retinopathy	Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino...	ORPHA:71505
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling	OMIM:614105
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macroglossia, Increased muscl...	ORPHA:254864
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Bethlem Muscular Dystrophy	Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy, Quadriceps muscle weakness, Inter...	ORPHA:610
Creatine Phosphokinase, Elevated Serum	Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa...	OMIM:123320
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc...	OMIM:226670
Dermatomyositis	Lymphoma, Neoplasm, Lung adenocarcinoma, Gastrointestinal stroma tumor, Abnormal pulmonary inters...	ORPHA:221
Werner Syndrome	Skeletal muscle atrophy, Premature graying of hair, Slender build, White forelock, Abnormality of...	ORPHA:902
Cap Myopathy	Increased variability in muscle fiber diameter, Lower limb muscle weakness, Abnormal muscle fiber...	ORPHA:171881
Histidinemia	Histidinuria, Hyperhistidinemia	ORPHA:2157
Aceruloplasminemia	Macular degeneration, Abnormality of retinal pigmentation, Torticollis, Retinal degeneration	ORPHA:48818
Micro Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Retinal coloboma	ORPHA:2510
Mucopolysaccharidosis, Type Ii	Macroglossia, Flexion contracture, Papilledema, Abnormality of retinal pigmentation	OMIM:309900
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue	ORPHA:663
Classic Multiminicore Myopathy	Muscular dystrophy, Failure to thrive, Muscle fiber atrophy, Increased muscle lipid content, Mult...	ORPHA:324604
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Generalized amyotrophy, Failure to thrive, Ragged-red muscle fibers	OMIM:613561
X-Linked Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:98863
King-Denborough Syndrome	Centrally nucleated skeletal muscle fibers, Minicore myopathy, Failure to thrive, Muscle fiber at...	OMIM:619542
Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:98853
Wolfram Syndrome 1	Optic atrophy, Pigmentary retinopathy	OMIM:222300
Amyotrophic Lateral Sclerosis 27, Juvenile	Lower limb muscle weakness, Angulated muscle fibers, Quadriceps muscle atrophy, Intrinsic hand mu...	OMIM:620285
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture	OMIM:607855
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:616812
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Scapuloperoneal Spinal Muscular Atrophy	Progressive distal muscular atrophy, Peroneal muscle atrophy, Scapular muscle atrophy, Amyoplasia...	OMIM:181405
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Failure t...	OMIM:619518
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Elevated circulating creatinine concentration	OMIM:608104
Myopathy, Centronuclear, 2	Centrally nucleated skeletal muscle fibers, Scapular winging, Flexion contracture, Facial palsy, ...	OMIM:255200
X-Linked Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ...	ORPHA:596
Mitochondrial Complex I Deficiency, Nuclear Type 21	Ragged-red muscle fibers, Myopathy	OMIM:618242
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Pigmentary retinopathy, Freckling, Decreased nerve conduction velocity	OMIM:610651
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Retinal atrophy, ...	ORPHA:85167
Combined Oxidative Phosphorylation Deficiency 28	Ragged-red muscle fibers	OMIM:616794
Cohen Syndrome	Optic atrophy, Failure to thrive in infancy, Obesity, Abnormality of retinal pigmentation, Chorio...	ORPHA:193
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Rimmed vacuoles, Increased variability in muscle fiber diameter, Amyotrophic lateral sclerosis, C...	ORPHA:52430
Combined Oxidative Phosphorylation Deficiency 24	Optic atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial mu...	OMIM:616239
Relapsing Fever	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91547
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Abnormal muscle fiber protein expression	ORPHA:330054
Myopathy, Myofibrillar, 8	Centrally nucleated skeletal muscle fibers, Nemaline bodies, Limb muscle weakness, Joint contract...	OMIM:617258
Prolidase Deficiency	White forelock, Abnormality of retinal pigmentation	ORPHA:742
Bardet-Biedl Syndrome 1	Obesity, Hyperautofluorescent macular lesion, Attenuation of retinal blood vessels, Retinal degen...	OMIM:209900
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Pigmentary retinopathy, Toe extensor amyotrophy, Bull's eye maculopathy, Retinal f...	ORPHA:157850
Autosomal Dominant Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus...	ORPHA:169189
Lambert-Eaton Myasthenic Syndrome	Small cell lung carcinoma	ORPHA:43393
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Limb-girdle muscular dystrophy, Muscle fiber atrophy, Muscular dystrophy, Myopathy	ORPHA:369840
Benign Samaritan Congenital Myopathy	Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers	ORPHA:324581
Coffin-Lowry Syndrome	Optic atrophy, Skeletal muscle atrophy, Abnormality of retinal pigmentation	ORPHA:192
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Ragged-red muscle fibers	OMIM:615159
Marinesco-Sjogren Syndrome	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Failure to ...	OMIM:248800
Autosomal Recessive Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Facial diplegia, Type 1 muscle fiber predominance, Hi...	ORPHA:169186
Cockayne Syndrome Type 1	Optic atrophy, Pigmentary retinopathy, Foot joint contracture, Failure to thrive, Abnormality of ...	ORPHA:90321
Preeclampsia	Elevated circulating creatinine concentration	ORPHA:275555
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Minicore myopathy, Arthrogryposis multiplex congenita, Flexion contracture, Increased endomysial ...	ORPHA:178148
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Decreased muscle mass, Foot dorsiflexor weakness, Ragg...	ORPHA:298
Striatonigral Degeneration, Infantile, Mitochondrial	Ragged-red muscle fibers	OMIM:500003
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c...	OMIM:608836
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration	OMIM:614376
Mitochondrial Dna Depletion Syndrome 11	Generalized amyotrophy, Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy	OMIM:615084
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Pigmentary retinopathy, Failure to thrive, Ragged-red muscle fibers, Rod-cone dyst...	ORPHA:255210
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Muscle fiber atrophy, Flexion contracture, Failure to thrive	OMIM:620240
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy	OMIM:612582
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy, Failure to thrive	ORPHA:71212
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen	OMIM:235400
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Ragged-red muscle fibers, Rhabdomyolysis, Weakness of facial musculature	OMIM:618416
Retinoblastoma	Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentation, Retinoblastoma, He...	ORPHA:790
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy, Decreased body weight	OMIM:266270
Combined Oxidative Phosphorylation Defect Type 27	Ragged-red muscle fibers	ORPHA:477774
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration	ORPHA:90060
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Obesity, Ragged-red muscle fibers, Left ventricular hypertrophy, Achille...	OMIM:615418
Muscular Dystrophy, Congenital, Megaconial Type	Muscular dystrophy, Facial palsy, Increased endomysial connective tissue, Myopathy	OMIM:602541
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Left ventricular hypertrophy, Ragged-red muscle fibers, Myopathy	OMIM:540000
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Congenital Myopathy 22A, Classic	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620351
Melas	Optic atrophy, Pigmentary retinopathy, Failure to thrive, Vitiligo, Ragged-red muscle fibers, Myo...	ORPHA:550
Vocal Cord And Pharyngeal Distal Myopathy	Rimmed vacuoles, Amyotrophic lateral sclerosis, Shoulder girdle muscle weakness, Decreased nerve ...	ORPHA:600
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Vitiligo, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy	OMIM:240300
Glycogen Storage Disease Due To Aldolase A Deficiency	Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ...	ORPHA:57
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration	ORPHA:79126
Abetalipoproteinemia	Hypopigmentation of the fundus, Failure to thrive, Abnormality of retinal pigmentation, Myopathy,...	ORPHA:14
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Hypotriglyceridemia, Decreased HDL cholesterol concentration	OMIM:618885
Peroxisome Biogenesis Disorder 1A (Zellweger)	Macroglossia, Pigmentary retinopathy, Failure to thrive, Optic disc pallor, Brushfield spots	OMIM:214100
Trisomy 18	Cachexia, Congenital diaphragmatic hernia, Abnormality of retinal pigmentation, Camptodactyly of ...	ORPHA:3380
Peroxisome Biogenesis Disorder 5A (Zellweger)	Optic atrophy, Pigmentary retinopathy, Failure to thrive, Optic nerve dysplasia, Rod-cone dystrop...	OMIM:614866
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Hypotonia-Cystinuria Syndrome	Facial palsy, Failure to thrive, Ragged-red muscle fibers	OMIM:606407
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Abnormal optic nerve morphology, Retinopathy, Abnormality of retinal pigmentation,...	ORPHA:2526
Microphthalmia With Linear Skin Defects Syndrome	Hypopigmented skin patches, Failure to thrive, Abnormality of retinal pigmentation, Congenital di...	ORPHA:2556
Spinocerebellar Ataxia 28	Ragged-red muscle fibers, Lower limb hypertonia	OMIM:610246
Aicardi Syndrome	Optic atrophy, Optic disc coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation, ...	ORPHA:50
Greig Cephalopolysyndactyly Syndrome	Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology	OMIM:175700
Immune-Mediated Necrotizing Myopathy	Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myopathy, Myositis, Muscle fibe...	ORPHA:206569
Cockayne Syndrome	Optic atrophy, Pigmentary retinopathy, Retinal arteriolar constriction, Skeletal muscle atrophy, ...	ORPHA:191
Chromosome 8Q21.11 Deletion Syndrome	Camptodactyly, Pigmentary retinopathy	OMIM:614230
Myopathy, Centronuclear, 5	Centrally nucleated skeletal muscle fibers, Hip contracture, Weakness of facial musculature	OMIM:615959
Hypokalemic Periodic Paralysis	Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology	ORPHA:681
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia	ORPHA:439232
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Retinal detachment, Abnormality of retinal pigmentation	ORPHA:394
Cartilage-Hair Hypoplasia	Aganglionic megacolon, Abnormality of retinal pigmentation, Failure to thrive, Aplasia/Hypoplasia...	ORPHA:175
Juvenile Amyotrophic Lateral Sclerosis	Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral scl...	ORPHA:300605
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Generalized amyotrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature	ORPHA:352447
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic atrophy, Pigmentary retinopathy, Failure to thrive, Cone/cone-rod dystrophy, Limb joint con...	ORPHA:404454
Mucopolysaccharidosis Type 2	Optic atrophy, Contractures of the large joints, Decreased nerve conduction velocity, Retinopathy...	ORPHA:580
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Failure to thrive, Re...	ORPHA:79282
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Flexion contracture, Macroglossia, Abnormality of retinal pigmentation	ORPHA:505248
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Facial palsy, Skeletal muscle atrophy, Abnormal muscle fiber morphology	ORPHA:3068
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Increased variability in muscle fiber diameter, Generalized amyotrophy, Muscle fiber atrophy, Spi...	OMIM:616866
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration	OMIM:266900
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness	OMIM:616479
Combined Oxidative Phosphorylation Deficiency 49	Ragged-red muscle fibers	OMIM:619024
Juvenile Nephropathic Cystinosis	Hypouricemia, Aminoaciduria, Elevated circulating creatinine concentration, Hypocalcemic tetany, ...	ORPHA:411634
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Khan-Khan-Katsanis Syndrome	Pigmentary retinopathy, Failure to thrive, Joint contracture	OMIM:618460
Hereditary Amyloidosis With Primary Renal Involvement	Elevated circulating creatinine concentration, Decreased circulating apolipoprotein A-I concentra...	ORPHA:85450
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Failure to thrive	ORPHA:411629
Cystinosis, Nephropathic	Pigmentary retinopathy, Hypopigmentation of the skin, Skeletal muscle atrophy, Failure to thrive,...	OMIM:219800
Coenzyme Q10 Deficiency, Primary, 1	Decreased level of coenzyme Q10 in skeletal muscle, Ragged-red muscle fibers, Rod-cone dystrophy	OMIM:607426
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Pigmentary retinopathy, Decreased muscle mass, Myopathy, Retinal degeneration, Hyp...	OMIM:234200
Cockayne Syndrome A	Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Retinal pigment epith...	OMIM:216400
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy, Small for gestational age, Failure to thrive	OMIM:277400
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin...	ORPHA:36234
Chédiak-Higashi Syndrome	Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Large clumps of pi...	ORPHA:167
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Camptodactyly of finger, Abnormality of retinal pigmentation, Retinopathy, Papille...	ORPHA:217085
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Elevated circulating creatinine concentration, Reduced haptoglobin level	OMIM:301110
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Camptodactyly of finger, Abnormality of retinal pigmentation, Retinopathy, Papille...	ORPHA:217093
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ra...	OMIM:157640
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ...	OMIM:620278
Alstrom Syndrome	Pigmentary retinopathy, Obesity, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, T...	OMIM:203800
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating creatinine concentration	ORPHA:247691
Cockayne Syndrome B	Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Failure to thrive, De...	OMIM:133540
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Decreased muscle mass, Elbow flexion contracture, Muscle fiber atrophy, Limb muscle weakness, Abn...	ORPHA:1900
Mucopolysaccharidosis Type 3	Optic atrophy, Pigmentary retinopathy, Retinal degeneration, Rod-cone dystrophy, Macroglossia, Fl...	ORPHA:581
Combined Oxidative Phosphorylation Deficiency 58	Optic atrophy, Ragged-red muscle fibers, Exaggerated startle response	OMIM:620451
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation, Scapular winging	OMIM:272460
Tubulointerstitial Nephritis And Uveitis Syndrome	Chorioretinal scar, Choroidal neovascularization, Macular edema, Abnormality of retinal pigmentat...	ORPHA:91500
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Ragged-red muscle fibers	ORPHA:1349
Linear Skin Defects With Multiple Congenital Anomalies 1	Pigmentary retinopathy, Congenital diaphragmatic hernia	OMIM:309801
Nijmegen Breakage Syndrome	Progressive vitiligo, Rhabdomyosarcoma, Cafe-au-lait spot, Retinal pigment epithelial mottling	OMIM:251260
Myotubular Myopathy With Abnormal Genital Development	Centrally nucleated skeletal muscle fibers, Myopathy, Neonatal death	OMIM:300219
Atypical Werner Syndrome	Skeletal muscle atrophy, Failure to thrive, Premature graying of hair, White forelock, Abnormalit...	ORPHA:79474
Oculopharyngodistal Myopathy 1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Foot dorsifle...	OMIM:164310
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:49041
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo...	ORPHA:90038
Cushing Syndrome Due To Ectopic Acth Secretion	Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Pulmonary carcinoid tumor, Ne...	ORPHA:99889
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Triceps weakness, Foot...	OMIM:619574
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Neurofibromatosis Type 1	Inguinal freckling, Hypopigmented skin patches, Chorioretinal coloboma, Melanocytic nevus, Genera...	ORPHA:636
Polymyositis	Weight loss, Abnormal muscle fiber morphology	ORPHA:732
Multiple Myeloma	Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia	ORPHA:29073
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	EMG: myopathic abnormalities, Limb muscle weakness, Ragged-red muscle fibers	OMIM:609286
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Distal amyotrophy, Slender build, Ragged-red muscle fibers, Cachexia, Weight loss, Allodynia	OMIM:603041
Oligomeganephronia	Elevated circulating creatinine concentration	ORPHA:2260
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:613327
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Muscular dystrophy, Absent muscle fiber merosin, Muscle fiber atrophy, Decreased body weight, Myo...	ORPHA:258
Lipodystrophy, Familial Partial, Type 7	Pigmentary retinopathy, Failure to thrive, Lower limb muscle weakness, Orthostatic hypotension, S...	OMIM:606721
Sickle Cell Anemia	Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration	ORPHA:232
Snakebite Envenomation	Muscle fiber necrosis, Rhabdomyolysis	ORPHA:449285
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Congenital Myasthenic Syndrome	Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Distal lower limb mu...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Distal lower limb mu...	ORPHA:98914
Pparg-Related Familial Partial Lipodystrophy	Abnormality of skeletal muscle fiber size, Calf muscle pseudohypertrophy, Myopathy, Skeletal musc...	ORPHA:79083
Proteus Syndrome	Retinal nonattachment, Irregular hyperpigmentation, Chorioretinal coloboma, Central heterochromia...	ORPHA:744
Lethal Congenital Contracture Syndrome 9	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint...	OMIM:616503
Familial Partial Lipodystrophy, Dunnigan Type	Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy	ORPHA:2348
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Muscle fiber atrophy, Increased muscle lipid content, Rhabdomyolysis	ORPHA:228302
Alagille Syndrome 1	Chorioretinal atrophy, Pigmentary retinopathy, Failure to thrive	OMIM:118450
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Failure to thrive, Ragged-red muscle fibers, Increased intramyocellular ...	OMIM:252010
Pearson Syndrome	Pigmentary retinopathy, Hyperpigmentation of the skin, Cafe-au-lait spot, Small for gestational age	ORPHA:699
Hypomagnesemia 3, Renal	Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi...	OMIM:248250
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Autosomal Dominant Progressive External Ophthalmoplegia	Quadriceps muscle weakness, Failure to thrive, Shoulder girdle muscle weakness, Limb muscle weakn...	ORPHA:254892
Thyrotoxic Periodic Paralysis	Lower limb muscle weakness, Obesity, Rhabdomyolysis, Weight loss, Increased intramyocellular lipi...	ORPHA:79102
Sotos Syndrome	Small cell lung carcinoma, Neoplasm, Cholesteatoma, Astrocytoma, Hemangioma, Neuroblastoma, Pulmo...	ORPHA:821
Danon Disease	Skeletal muscle autophagosome accumulation, Myocardial necrosis, Limb muscle weakness, Lower limb...	OMIM:300257
Hemorrhagic Fever-Renal Syndrome	Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia	ORPHA:340
Marburg Hemorrhagic Fever	Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ...	ORPHA:99826
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Failure to thrive, Ragged-red muscle fibers, Rhabdomyolysis, Neonatal death, Rod-cone dystrophy	OMIM:124000
Ehlers-Danlos Syndrome, Classic-Like, 1	Proximal amyotrophy, Muscle fiber splitting	OMIM:606408
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Neutral Lipid Storage Myopathy	Rimmed vacuoles, Hand muscle weakness, Generalized limb muscle atrophy, Shoulder girdle muscle we...	ORPHA:98908
Hardikar Syndrome	Pigmentary retinopathy, Failure to thrive	OMIM:301068
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased variability in muscle fiber diameter, Ragged-red muscle fibers	ORPHA:70595
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Failure to thrive, Ragge...	ORPHA:17
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:449395
Combined Oxidative Phosphorylation Deficiency 12	Failure to thrive, Ragged-red muscle fibers	OMIM:614924
Wiedemann-Rautenstrauch Syndrome	Optic atrophy, Pigmentary retinopathy, Optic disc hypoplasia, Failure to thrive, Camptodactyly of...	ORPHA:3455
Native American Myopathy	Congenital contracture, Skeletal muscle atrophy, Muscle fiber atrophy, Camptodactyly, Abnormality...	ORPHA:168572
Overlap Myositis	Distal lower limb muscle weakness, Perifascicular muscle fiber atrophy, Proximal muscle weakness ...	ORPHA:206572
Yellow Fever	Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ...	ORPHA:99829
Glycogen Storage Disease Xii	Increased variability in muscle fiber diameter, Muscle fiber splitting, Myopathy	OMIM:611881
Early-Onset Autosomal Dominant Alzheimer Disease	Deposits immunoreactive to beta-amyloid protein	ORPHA:1020
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co...	OMIM:619534
Primary Triglyceride Deposit Cardiomyovasculopathy	Rimmed vacuoles, Abnormality of the shoulder girdle musculature, Increased muscle lipid content, ...	ORPHA:565612
Choreoacanthocytosis	Peroneal muscle atrophy, Distal amyotrophy, Decreased amplitude of sensory action potentials, Mus...	ORPHA:2388
Singleton-Merten Syndrome 1	Tendon rupture, Muscle fiber atrophy, Decreased body weight	OMIM:182250

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 Lmo7

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 Lmo7.

No publications found that use IMPC mice or data for Lmo7.

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
Lmo7^{em1(IMPC)Marc}	Deletion	Mice
Lmo7^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Lmo7^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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