Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)
Synonyms:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Uchl3 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.

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

The table below shows human diseases predicted to be associated to Uchl3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy OMIM:603649
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen OMIM:136550
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Stargardt Disease 3
Macular dystrophy, Macular flecks, Macular atrophy OMIM:600110
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:609923
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:180020
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Cone-Rod Dystrophy 22
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... OMIM:619531
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Cone-Rod Dystrophy 11
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Cone/cone-rod dystrophy OMIM:610381
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy OMIM:613862
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Cranial nerve compression, Macular atrophy OMIM:250450
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Charcot-Marie-Tooth Disease Type 2B1
Axonal degeneration, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Hand muscl... ORPHA:98856
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Scap... OMIM:617158
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... ORPHA:75377
Bestrophinopathy, Autosomal Recessive
Retinal flecks, Retinal pigment epithelial atrophy OMIM:611809
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... OMIM:618144
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy OMIM:617030
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... OMIM:606482
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Macular Dystrophy, Vitelliform, 3
Vitelliform-like macular lesions, Choroidal neovascularization, Macular atrophy, Macular dystroph... OMIM:608161
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Cone-Rod Dystrophy 13
Macular degeneration, Cone/cone-rod dystrophy OMIM:608194
Retinitis Pigmentosa 90
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... OMIM:619007
Retinitis Pigmentosa 84
Macular coloboma, Rod-cone dystrophy, Macular atrophy OMIM:618220
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Absent foveal reflex, Patent ductus arteriosus, Retinal dystrophy OMIM:615147
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... OMIM:616199
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy OMIM:267760
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Internally nucleated skeletal muscle fibers, Axonal degenera... OMIM:618138
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... OMIM:618826
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... ORPHA:611
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... OMIM:618655
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Gne Myopathy
EMG: myopathic abnormalities, Scapular winging, Increased variability in muscle fiber diameter, R... ORPHA:602
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Peripapillary atrophy, Macular degeneration OMIM:618195
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Deposits immunoreactive to beta... OMIM:605820
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Retinitis Pigmentosa 19
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:601718
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy OMIM:304030
Charcot-Marie-Tooth Disease, Type 4A
Decreased sensory nerve conduction velocity, Axonal degeneration, Onion bulb formation, Decreased... OMIM:214400
Myopathy, Myofibrillar, 5
Abnormal peripheral nervous system morphology, Muscle fiber splitting, Muscle fiber cytoplasmatic... OMIM:609524
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Axonal degeneration, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, D... OMIM:614436
Retinal Dystrophy And Obesity
Retinal detachment, Peripapillary atrophy, Retinal dystrophy, Retinal pigment epithelial atrophy OMIM:616188
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... OMIM:271150
Retinitis Pigmentosa 27
Rod-cone dystrophy, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal atrophy, Ma... OMIM:613750
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy OMIM:180104
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Choroidal neovascularization, Macular degeneration, Drusen OMIM:608895
Nephronophthisis 14
Retinal degeneration OMIM:614844
Achromatopsia 7
Absent foveal reflex, Hypoplasia of the fovea, Macular atrophy OMIM:616517
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... OMIM:158600
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Retinal degeneration OMIM:225755
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate OMIM:264420
Bardet-Biedl Syndrome 16
Retinal degeneration, Rod-cone dystrophy OMIM:615993
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Cone-Rod Dystrophy 15
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:613660
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Axonal degeneration, Arthrogryposis-like hand anomaly, Diaphragmatic eventration, Peripheral axon... OMIM:620011
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... OMIM:304020
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... OMIM:609115
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... OMIM:601596
Retinitis Pigmentosa 77
Retinal atrophy, Cystoid macular edema, Rod-cone dystrophy OMIM:617304
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy OMIM:600790
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Peripher... OMIM:602433
Retinitis Pigmentosa 86
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... OMIM:618613
Merrf
Optic atrophy, Ragged-red muscle fibers, Myopathy ORPHA:551
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Nephronophthisis 15
Retinal degeneration OMIM:614845
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment OMIM:614224
Achromatopsia
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... ORPHA:49382
Retinopathy Of Prematurity
Vitreous hemorrhage, Abnormal retinal vascular morphology, Abnormal macular morphology, Tractiona... ORPHA:90050
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Retinal degeneration, Macular degeneration OMIM:256730
Bardet-Biedl Syndrome 4
Retinal degeneration, Rod-cone dystrophy OMIM:615982
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Rod-cone dystrophy, Retinal degeneration, Macular degeneration OMIM:204200
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Retinal degeneration OMIM:275400
Mitochondrial Dna Depletion Syndrome 18
Failure to thrive, Axonal degeneration, Weakness of facial musculature, Hand muscle atrophy, Foot... OMIM:618811
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... ORPHA:41751
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Congenital Glaucoma
Retinal detachment ORPHA:98976
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Oguchi Disease
Mizuo phenomenon, Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy ORPHA:75382
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:602271
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... ORPHA:178464
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fibers, Lim... OMIM:500002
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Failure to thrive, Decreased nerve conduction velocity, Axonal degeneration, Small for gestationa... OMIM:604320
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Leber Congenital Amaurosis 4
Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy OMIM:604393
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... OMIM:601954
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Chorioretinal coloboma, Retinal dystrophy, Macular atrophy OMIM:212550
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... OMIM:618848
Bardet-Biedl Syndrome 2
Retinal degeneration, Rod-cone dystrophy OMIM:615981
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detach... OMIM:616468
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Choroideremia
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... OMIM:303100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Foot dorsiflexor we... ORPHA:603
Retinitis Pigmentosa 58
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:613617
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy OMIM:616209
Retinitis Pigmentosa 50
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... OMIM:613194
Retinitis Pigmentosa 41
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... OMIM:612095
Bardet-Biedl Syndrome 21
Rod-cone dystrophy, Retinal thinning, Hypoplasia of the fovea, Cone/cone-rod dystrophy, Retinal a... OMIM:617406
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... ORPHA:276435
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration OMIM:214980
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Retinitis Pigmentosa 10
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... OMIM:180105
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Hand muscle weakness, Axonal degeneration, Onion bulb formation, Decreased motor nerve conduction... OMIM:302800
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... OMIM:615424
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Retinal exudate, Tractional retinal detachment OMIM:613310
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ... OMIM:145350
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613464
Leber Congenital Amaurosis 15
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor OMIM:613843
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... OMIM:618940
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy OMIM:617460
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... ORPHA:34516
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... OMIM:254110
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Foot dorsiflexor weakness, Axonal degeneration OMIM:616155
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Degeneration of anterior horn cells, Prox... OMIM:604484
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... OMIM:619473
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased endomysial connective tissue, EMG: myopathic abnormalities, Increased variability in mu... ORPHA:266
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Irvan Syndrome
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... ORPHA:209943
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration OMIM:612948
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in lower limbs, Scapular winging, Increased variability in muscle fiber ... OMIM:301075
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... ORPHA:399058
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Temporal cortical atrophy, Frontal cortical atrophy, Brain atrophy, Pelvic girdle muscle atrophy,... OMIM:167320
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... ORPHA:2593
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Shoulder girdle muscle weakness, Weakness of facial musculature, Angulated muscle fibers, Scapula... OMIM:619477
Zebra Body Myopathy
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... ORPHA:97240
Amyotrophy, Hereditary Neuralgic
Brachial plexus neuropathy, Skeletal muscle atrophy, Peripheral axonal degeneration, Axonal degen... OMIM:162100
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Centrally nucleated skeletal muscle fibers, Scapular winging, Hand muscle atroph... OMIM:616852
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Rimmed vacuoles, Abnormal muscle fiber morphology, Myopathy ORPHA:270
Tibial Muscular Dystrophy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... ORPHA:609
Birdshot Chorioretinopathy
Vitritis, Abnormal chorioretinal morphology, Retinal pigment epithelial atrophy OMIM:605808
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration OMIM:164500
Retinal Venous Beading
Abnormal distribution of retinal arterioles and venules, Retinal infarction, Vitreous hemorrhage,... OMIM:180080
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... OMIM:608423
Cone-Rod Dystrophy 10
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610283
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Optic disc pallor, Macular atrophy, Retinopathy OMIM:616171
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Decrease... OMIM:603511
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Sensory a... OMIM:616924
Retinitis Pigmentosa 56
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment... OMIM:613581
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Increased intramyocellul... ORPHA:457050
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degeneration, Cone/... OMIM:605549
Multiminicore Myopathy
Failure to thrive, Abnormal muscle fiber morphology, Proximal muscle weakness in lower limbs, Min... ORPHA:598
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers OMIM:609283
Leber Congenital Amaurosis 9
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... OMIM:608553
Myopathy, Centronuclear, 1
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Type 1 muscle fib... OMIM:160150
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Mucolipidosis Iv
Optic atrophy, Retinal degeneration OMIM:252650
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, ... OMIM:609200
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Axonal degeneration, Peripheral axonal neuropathy, Decreased number of peripheral myelinated nerv... OMIM:615490
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy OMIM:602499
Central Core Disease Of Muscle
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... OMIM:117000
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration OMIM:300438
Distal Nebulin Myopathy
Slender build, Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foo... ORPHA:399103
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Type 1 muscle fiber pr... OMIM:160500
Coats Disease
Abnormal macular morphology, Retinal detachment, Abnormal retinal vascular morphology ORPHA:190
Vacuolar Neuromyopathy
Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Muscle fiber splitting, Shoulder ... OMIM:601846
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Cerebral atrophy, Peripheral hypomyelination, Axonal degeneration, Decreased motor nerve conducti... OMIM:604168
Myofibrillar Myopathy 11
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... OMIM:619178
Sjogren-Larsson Syndrome
Macular degeneration, Retinal thinning, Retinal pigment epithelial atrophy, Macular crystals, Mac... OMIM:270200
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Nemaline Myopathy 2
Slender build, Nemaline bodies, Flexion contracture, Weakness of facial musculature, EMG: myopath... OMIM:256030
Cone-Rod Dystrophy And Hearing Loss 1
Retinal atrophy, Macular degeneration OMIM:617236
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Failure to thrive, Type 1 muscle fiber predominance, Cerebellar atrophy, Motor axonal neuropathy,... OMIM:618276
Stickler Syndrome Type 2
Retinopathy, Retinal detachment, Abnormal vitreous humor morphology ORPHA:90654
Retinitis Pigmentosa 87 With Choroidal Involvement
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:618697
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Optic neuritis, Muscle fiber atrophy, Cerebral atrophy, Scapular winging, S... ORPHA:254886
Moderate Multiminicore Disease With Hand Involvement
Facial palsy, Type 1 muscle fiber predominance, Intrinsic hand muscle atrophy ORPHA:178145
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Flexion contracture of finger, Rod-cone dystrophy, Axonal degeneration, Pigmentary retinopathy, C... ORPHA:88628
Scheie Syndrome
Retinal degeneration OMIM:607016
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Orthostatic hypotension, Decreased number of peripheral myelinated nerve fibers, Peripheral axona... OMIM:608720
Retinitis Punctata Albescens
Absent foveal reflex, Cystoid macular edema, Abnormality of fundus pigmentation, Retinal pigment ... ORPHA:52427
Nemaline Myopathy 4
Facial diplegia, Nemaline bodies, Flexion contracture, Type 1 muscle fiber predominance, Limb mus... OMIM:609285
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Diffuse cerebellar atrophy, Abnormal autonomic nervous system physiology, Axona... ORPHA:478029
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... OMIM:609456
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy OMIM:614284
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal degenerati... OMIM:615986
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral atrophy, Axonal degeneration, Neurodegeneration, Cerebellar atrophy, Skeletal muscle atr... OMIM:615157
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy OMIM:616722
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Cerebral cortical atrophy, Skeletal muscle atrophy, Peripheral axonal n... OMIM:617070
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration OMIM:614292
Mitochondrial Myopathy, Infantile, Transient
Failure to thrive, Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Inc... OMIM:500009
Cone-Rod Dystrophy 2
Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial atrophy, Macular hyper... OMIM:120970
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weak... OMIM:300580
Combined Oxidative Phosphorylation Deficiency 29
Optic neuropathy, Axonal degeneration, Retinopathy, Optic atrophy, Cerebellar atrophy, Global bra... OMIM:616811
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Retinal degeneration OMIM:613819
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... OMIM:253601
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Microspherophakia With Hernia
Retinal detachment OMIM:157150
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... ORPHA:364055
Spastic Paraplegia 11, Autosomal Recessive
Retinal degeneration, Macular degeneration OMIM:604360
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Proximal Myopathy With Extrapyramidal Signs
Increased variability in muscle fiber diameter, Peripheral axonal neuropathy, Optic atrophy, Cent... ORPHA:401768
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... OMIM:300696
Cataract 21, Multiple Types
Retinal detachment, Macular hypoplasia OMIM:610202
Hypotrichosis With Juvenile Macular Degeneration
Abnormality of macular pigmentation, Macular degeneration ORPHA:1573
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Abnormality of retinal pigmentation, Skeletal muscle atrophy ORPHA:480
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, Failure to thrive, EMG: myopathic abnormalities, Diaphragmatic eventration... OMIM:614399
Rigid Spine Muscular Dystrophy 1
Failure to thrive, Increased endomysial connective tissue, Decreased body weight, Flexion contrac... OMIM:602771
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Choroidal neovascularization, Macular degeneration ORPHA:404451
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:249270
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... OMIM:254130
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Increased endomysial connective tissue, Ankle flexion contracture, Flexion co... OMIM:617072
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, Flexion contracture, Small for gestational age, Retinal hemo... OMIM:615368
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance... OMIM:619042
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Muscle fiber splitting, Myopathy, Proximal amyotrophy OMIM:618129
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... OMIM:608810
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... OMIM:608358
Late-Onset Retinal Degeneration
Macular degeneration, Patchy atrophy of the retinal pigment epithelium, Chorioretinal atrophy, Fu... ORPHA:67042
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... ORPHA:488650
Sjögren-Larsson Syndrome
Retinopathy, Abnormality of retinal pigmentation, Macular degeneration ORPHA:816
Finnish Upper Limb-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, EM... ORPHA:399086
Ceroid Lipofuscinosis, Neuronal, 10
Retinal atrophy, Rod-cone dystrophy OMIM:610127
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... OMIM:253700
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... OMIM:613204
Aceruloplasminemia
Retinal degeneration OMIM:604290
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma ORPHA:35737
Bardet-Biedl Syndrome 17
Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule ... OMIM:615994
Alg6-Cdg
Retinal degeneration, Rod-cone dystrophy ORPHA:79320
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variability in muscle fiber diamet... OMIM:603689
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Peripheral axo... OMIM:208920
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Abnormal muscle fiber morphology, Weakness of facial musculature, Degeneration o... ORPHA:1145
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Retinal degeneration, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor... OMIM:619260
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
Spastic Paraplegia Type 7
Cerebral cortical atrophy, Lower limb muscle weakness, Optic atrophy, Optic disc pallor, Ragged-r... ORPHA:99013
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculat... OMIM:619566
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Ankle flexion contracture, Type 2 muscle fiber atrophy, Type... OMIM:617519
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... OMIM:300718
Hypobetalipoproteinemia, Familial, 1
Retinal degeneration, Rod-cone dystrophy OMIM:615558
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy OMIM:617760
Myopathy, Congenital Proximal, With Minicore Lesions
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... OMIM:618823
Acute Zonal Occult Outer Retinopathy
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... ORPHA:284454
Spastic Paraplegia 15, Autosomal Recessive
Retinal degeneration, Macular degeneration OMIM:270700
Refsum Disease, Classic
Retinal degeneration, Rod-cone dystrophy OMIM:266500
Retinitis Pigmentosa And Erythrocytic Microcytosis
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial atrophy, Optic disc pallor, E... OMIM:616959
Congenital Myopathy With Myasthenic-Like Onset
Multiple joint contractures, Failure to thrive, EMG: myopathic abnormalities, Minicore myopathy, ... ORPHA:424107
Myopathy, Distal, 3
Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles,... OMIM:610099
Ectopia Lentis Et Pupillae
Retinal detachment OMIM:225200
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
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:612937
Nemaline Myopathy 5
Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Shoulder fl... OMIM:605355
Coloboma Of Macula
Macular coloboma OMIM:120300
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hand muscle weakness, Increased endomysial connective tissue, Triceps weakness, EMG: myopathic ab... ORPHA:437572
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder... OMIM:613530
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Left ventricular noncompaction, Pigmentary retinopathy, Optic atrophy, Ragge... OMIM:252011
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Flexion co... ORPHA:75840
Salih Myopathy
Flexion contracture, Calf muscle hypertrophy, Facial palsy, Centrally nucleated skeletal muscle f... OMIM:611705
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Increased variability in ... OMIM:613954
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased variability i... ORPHA:86812
Myasthenic Syndrome, Congenital, 14
Ragged-red muscle fibers, Scapular winging, Limb-girdle muscle weakness, Flexion contracture OMIM:616228
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial diplegia, Nemaline bodies, Hypertrophied muscle fibers, Flexion contracture, Internally nu... ORPHA:98905
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration ORPHA:79264
Childhood-Onset Nemaline Myopathy
Facial diplegia, Nemaline bodies, Slender build, Flexion contracture, EMG: myopathic abnormalitie... ORPHA:171439
Glycogen Storage Disease Ixd
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... OMIM:300559
Congenital Myasthenic Syndromes With Glycosylation Defect
Flexion contracture, Generalized weakness of limb muscles, Limb-girdle muscle weakness, Scapular ... ORPHA:353327
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Facial diplegia, Cerebral atrophy, EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb m... OMIM:609560
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture of finger, Increased endomysial connective tissue, Flexion contracture, Small... OMIM:618484
Oculopharyngodistal Myopathy 4
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:619790
Cone-Rod Dystrophy 6
Chorioretinal atrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atr... OMIM:601777
Adult-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased variability in musc... ORPHA:171442
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscle fiber atrophy, Rimmed vacuoles, Myositis, Centrally nucleated skeletal muscle fibers, Skel... OMIM:615422
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Sensory axonal neuropathy ORPHA:238329
Amyotrophic Lateral Sclerosis 21
Amyotrophic lateral sclerosis, Hand muscle weakness, Decreased nerve conduction velocity, Rimmed ... OMIM:606070
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy ORPHA:1878
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Muscle fiber necrosis, Slender build, Failure to thrive, Flexion contracture, Increa... OMIM:254090
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... OMIM:619903
Distal Myotilinopathy
EMG: myopathic abnormalities, Multiple joint contractures, Abnormal muscle fiber myotilin, Distal... ORPHA:98911
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Decreased size of nerve terminals, Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenit... OMIM:608931
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles ORPHA:263494
Intermediate Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Type 1 muscl... ORPHA:171433
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... ORPHA:353
Minicore Myopathy With External Ophthalmoplegia
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... OMIM:255320
Myasthenic Syndrome, Congenital, 5
Decreased size of nerve terminals, Type 2 muscle fiber atrophy, Limb muscle weakness, Decreased m... OMIM:603034
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... OMIM:160565
Bethlem Myopathy 2
Myopathy, Scapular winging, Increased variability in muscle fiber diameter, Flexion contracture OMIM:616471
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting OMIM:609452
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Cranial nerve compression, Brain atrophy, EMG: myopathic abnormali... ORPHA:52430
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Nemaline Myopathy 3
Slender build, Nemaline bodies, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, L... OMIM:161800
Joubert Syndrome 6
Retinal degeneration, Chorioretinal coloboma OMIM:610688
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Mus... OMIM:613157
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration OMIM:619780
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Intrinsic hand muscle atrophy, Decreased size of nerve terminals, Type 2 muscle fiber atrophy, Ha... OMIM:601462
Myopathy, Proximal, With Ophthalmoplegia
Scapular winging, Congenital contracture, Muscle fiber inclusion bodies, Myopathy OMIM:605637
Myopathy, Congenital, With Fiber-Type Disproportion
Failure to thrive, Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, F... OMIM:255310
Central Core Disease
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Pelvic girdl... ORPHA:597
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Retinal degeneration OMIM:615630
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Increased variability in muscle fiber diamete... OMIM:125250
Myopathy, Myofibrillar, 7
Multiple joint contractures, Nemaline bodies, Flexion contracture, Z-band streaming, Increased va... OMIM:617114
Hsd10 Disease, Infantile Type
Optic atrophy, Retinal degeneration, Rod-cone dystrophy ORPHA:391428
Nemaline Myopathy 11, Autosomal Recessive
Nemaline bodies, Facial palsy, Scapular winging, Type 1 muscle fiber predominance OMIM:617336
Adult-Onset Distal Myopathy Due To Vcp Mutation
Facial diplegia, Intrinsic hand muscle atrophy, Decreased nerve conduction velocity, EMG: myopath... ORPHA:329478
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Increased variability in muscle fiber diameter, Peripheral axonal neuropathy... OMIM:616867
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Retinal degeneration ORPHA:442835
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Inflammatory ... OMIM:123320
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Muscle fiber necrosis, Muscle fiber atrophy, Weakness of facial musculature, EMG: myopathic abnor... OMIM:258450
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter, Failur... OMIM:619065
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Patchy atrophy of the retinal pigment epithelium, Rod-cone dystrophy ORPHA:436245
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... ORPHA:169189
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ragged-red muscle fibers, Weight loss, Cachexia OMIM:613662
Neuromuscular Oculoauditory Syndrome
Muscle fiber necrosis, Decreased nerve conduction velocity, Peripheral hypomyelination, Retinal p... OMIM:618733
Postsynaptic Congenital Myasthenic Syndromes
Triceps weakness, Decreased size of nerve terminals, EMG: myopathic abnormalities, Upper limb mus... ORPHA:98913
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Facial palsy, Increased variability in muscle fiber diameter, Flex... OMIM:616470
Nephronophthisis 11
Retinal degeneration OMIM:613550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration OMIM:615249
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration ORPHA:284289
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Proximal muscle weakness in lower limbs, L... ORPHA:352479
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion contracture OMIM:607855
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Paget Disease Of Bone 5, Juvenile-Onset
Angioid streaks of the fundus, Retinopathy, Macular scar, Retinal degeneration OMIM:239000
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Increased variabili... ORPHA:486815
Microphthalmia, Isolated 8
Retinal coloboma, Optic nerve hypoplasia, Retinal detachment, Hypoplastic optic chiasm OMIM:615113
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... ORPHA:59135
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration ORPHA:79244
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:98855
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Scapuloperoneal amyot... OMIM:181405
Amish Nemaline Myopathy
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Shoulder flexion... ORPHA:98902
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased number of large peripheral myelinated nerve fibers, Abnormality of the extraocular musc... ORPHA:298
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... ORPHA:254864
Marinesco-Sjogren Syndrome
Failure to thrive, Flexion contracture, Rimmed vacuoles, Centrally nucleated skeletal muscle fibe... OMIM:248800
Bethlem Myopathy
Multiple joint contractures, Flexion contracture, EMG: myopathic abnormalities, Quadriceps muscle... ORPHA:610
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Peripheral retinal degeneration, Rod-cone dystrophy, Retinal dystrophy ORPHA:168549
Combined Oxidative Phosphorylation Defect Type 27
Diffuse cerebral atrophy, Diffuse cerebellar atrophy, Ragged-red muscle fibers ORPHA:477774
Zika Virus Disease
Absent foveal reflex, Retinal pigment epithelial mottling, Chorioretinal atrophy, Abnormal optic ... ORPHA:448237
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscle fiber necrosis, Muscular dystrophy, Increased variability in muscle fiber diameter, Limb-g... OMIM:616812
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Adrenomyeloneuropathy
Axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Abnormality of cent... ORPHA:139399
Cap Myopathy
Abnormal muscle fiber morphology, Increased variability in muscle fiber diameter, Lower limb amyo... ORPHA:171881
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Calf muscle hypertrophy, Limb-girdle muscle weakness, Type 1 muscle... OMIM:255160
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Combined Oxidative Phosphorylation Defect Type 13
Hip contracture, Failure to thrive, Decreased nerve conduction velocity, Type 2 muscle fiber atro... ORPHA:319514
Pseudoxanthoma Elasticum
Retinal peau d'orange, Macular degeneration, Retinal hemorrhage, Optic disc drusen, Choroidal neo... OMIM:264800
Classic Multiminicore Myopathy
Multiple joint contractures, Failure to thrive, Muscle fiber atrophy, Right ventricular hypertrop... ORPHA:324604
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:98863
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Type 2 muscle fiber atrophy, Facial palsy, Arthrogryposis multiplex congenita OMIM:608930
Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:98853
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Muscle fiber necrosis, Retinal pigment epithelial mottling, Weakness of facial musculature, Scapu... OMIM:607459
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Skeletal muscle autophagosome accumulation, Failure to thrive, Rimmed vacuoles, Centrally nucleat... OMIM:619518
Myopathy, Centronuclear, 2
Flexion contracture, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Centrally nucl... OMIM:255200
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Failure to thrive, Joint contracture of the hand, Flexion contractur... ORPHA:536516
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, EMG: myopathic abnormalities, Increased variability in muscl... ORPHA:397744
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Amyotrophic lateral sclerosis, Abnormality of the ... ORPHA:600
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Retinal degeneration, Rod-cone dystrophy ORPHA:166035
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Retinal degeneration, Rod-cone dystrophy, Hypoautofluorescent retinal lesion OMIM:250410
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Senior-Loken Syndrome 8
Macular atrophy, Rod-cone dystrophy, Retinal dystrophy OMIM:616307
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Weakness of facial musculature, Centrally nucleated skeletal mus... ORPHA:596
Aceruloplasminemia
Abnormality of retinal pigmentation, Retinal degeneration, Macular degeneration ORPHA:48818
Multiple Sulfatase Deficiency
Retinal degeneration OMIM:272200
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Musc... OMIM:226670
Late Infantile Neuronal Ceroid Lipofuscinosis
Retinal degeneration ORPHA:168491
King-Denborough Syndrome
Failure to thrive, Muscle fiber atrophy, Weakness of facial musculature, Minicore myopathy, Type ... OMIM:619542
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Hip contracture, Left ventricular hypertrophy, Scapular winging, Type 1 muscle f... ORPHA:169186
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Muscle fiber atrophy, Flexion contracture, Diaphragmatic eventration, Increased variability in mu... OMIM:616866
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Limb-girdle muscular dystrophy, Myopathy, Muscular dystrophy ORPHA:369840
Werner Syndrome
Retinal degeneration OMIM:277700
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal retinal vascular morphology, Decreased nerve conduction velocity, Hype... ORPHA:909
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... OMIM:310300
Spinocerebellar Ataxia 28
Ragged-red muscle fibers, Cerebellar atrophy, Lower limb hypertonia OMIM:610246
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance, Cerebellar atrophy OMIM:619028
Pantothenate Kinase-Associated Neurodegeneration
Retinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy, Retinal flecks, Optic atrophy, ... ORPHA:157850
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased sensory nerve conduction velocity, Flexion contracture, Decreased motor nerve conductio... OMIM:619026
De Sanctis-Cacchione Syndrome
Optic atrophy, Cerebral atrophy, Global brain atrophy, Axonal degeneration OMIM:278800
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Abnormality of retinal pigmentation, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, ... ORPHA:85167
Pseudoxanthoma Elasticum, Forme Fruste
Angioid streaks of the fundus, Retinal hemorrhage, Macular degeneration OMIM:177850
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers, Failure to thrive OMIM:614924
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Fl... ORPHA:178148
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Limb muscle weakness, Myopathy OMIM:605809
Myopathy, Myofibrillar, 8
Nemaline bodies, Scapular winging, Joint contracture of the 5th finger, Limb muscle weakness, Gen... OMIM:617258
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Muscle fiber necrosis, EMG: myopathic abnormalities, Increased variability in muscle fiber diamet... OMIM:157640
Knobloch Syndrome
Macular degeneration, Retinal detachment, Vitreoretinopathy, Patent ductus arteriosus, Abnormal v... ORPHA:1571
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Weakness of facial musculature, Ragged-red muscle fibers, Generalized amyotrophy, Cerebellar atro... ORPHA:352447
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
EMG: myopathic abnormalities, Left ventricular hypertrophy, Ragged-red muscle fibers, Obesity, Sk... OMIM:615418
Glycogen Storage Disease Due To Aldolase A Deficiency
Muscle fiber atrophy, EMG: myopathic abnormalities, Exercise-induced rhabdomyolysis, Skeletal myo... ORPHA:57
Bardet-Biedl Syndrome 1
Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal dystrophy... OMIM:209900
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Retinal atrophy ORPHA:412057
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ragged-red muscle fibers, Left ventricular hypertrophy, Myopathy OMIM:540000
Autosomal Dominant Cerebellar Ataxia
Pigmentary retinopathy, Retinal degeneration, Macular degeneration ORPHA:99
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Failure to thrive, Cerebral atrophy, Weakness of facial musculature, Increased variability in mus... OMIM:619461
Papillorenal Syndrome
Macular degeneration, Retinal coloboma, Morning glory anomaly, Chorioretinal atrophy, Retinal det... OMIM:120330
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita OMIM:254210
Mannosidosis, Alpha B, Lysosomal
Retinal degeneration OMIM:248500
Immune-Mediated Necrotizing Myopathy
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Myo... ORPHA:206569
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cerebral atrophy, EMG: myopathic abnormalities, Sensory axonal neuropathy, Ragged-red muscle fibe... OMIM:609286
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Macular degenera... ORPHA:247234
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Retinal degeneration ORPHA:2822
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Abnormal muscle fiber morphology, Joint contracture of the hand OMIM:175700
Hypokalemic Periodic Paralysis
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology ORPHA:681
Hypotonia-Cystinuria Syndrome
Ragged-red muscle fibers, Facial palsy, Failure to thrive OMIM:606407
Typical Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, Increased variability in muscle fiber diam... ORPHA:171436
Severe Congenital Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, Abnormality of the diaphragm, Type 1 muscl... ORPHA:171430
Kniest Dysplasia
Degenerative vitreoretinopathy, Rhegmatogenous retinal detachment, Lattice retinal degeneration, ... ORPHA:485
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Lower-limb joint contracture, Muscle fiber atrophy, Upper-limb joi... ORPHA:300605
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Facial palsy, Abnormal muscle fiber morphology, Skeletal muscle atrophy ORPHA:3068
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Failure to thrive, Cerebral atrophy, Rod-cone dystrophy, Rhabdomyolysis, Ragged-red muscle fibers... OMIM:124000
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Retinal cotton wool spot, Retinal neovascularization, Abnormal retinal vascular mo... ORPHA:247691
Cancer-Associated Retinopathy
Granular macular appearance, Retinal pigment epithelial atrophy, Optic atrophy, Optic disc pallor... ORPHA:71505
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Retinal degeneration OMIM:618479
Spinocerebellar Ataxia Type 7
Abnormal fundus morphology, Macular degeneration, Cone/cone-rod dystrophy ORPHA:94147
Hurler Syndrome
Retinal degeneration OMIM:607014
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic girdle muscle wea... ORPHA:119
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Retinal degeneration, Abnormality of macular pigmentation, Pigmentary retinopathy, Optic atrophy,... ORPHA:79282
Coenzyme Q10 Deficiency, Primary, 1