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Gene: Cryab MGI:88516

Gene Summary

Name:

crystallin, alpha B

Synonyms:

alpha B-crystallin, Crya2, Crya-2, HspB5

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.

No results meet the p-value threshold

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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.

DSS Histology

Images

8 Images

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Legacy Phenotype Associated Images

Cryab^{tm1a(EUCOMM)Hmgu}
abnormal digit morphology, HOM, Male, WTSI

Human diseases caused by Cryab 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 Cryab (6 diseases)
Human diseases predicted to be associated with Cryab (1034 diseases)

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

Disease	Matching phenotypes	Source
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Posterior capsular cataract, Limb-girdle musc...	ORPHA:399058
Myopathy, Myofibrillar, 2	Cataract, Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome ...	OMIM:608810
Familial Isolated Dilated Cardiomyopathy	Myopathy	ORPHA:154
Cardiomyopathy, Dilated, 1Ii	Cataract	OMIM:615184
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Developmental cataract	OMIM:613763
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Muscular dystrophy	OMIM:613869

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

Disease	Matching phenotypes	Source
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant	Ectopia lentis	OMIM:129600
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Cataract 4, Multiple Types	Developmental cataract	OMIM:115700
Cataract 13 With Adult I Phenotype	Developmental cataract	OMIM:116700
Cataract 37	Developmental cataract	OMIM:614422
Cataract 45	Developmental cataract	OMIM:616851
Cataract 38	Developmental cataract	OMIM:614691
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Cataract, Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle ...	OMIM:609115
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Cataract, Centrally nucleated skeletal...	OMIM:301075
Cataract 44	Developmental cataract	OMIM:616509
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Myopathy, Cataract, Developmental cataract	OMIM:613076
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Distal lower limb amyotrophy, Cataract	ORPHA:73245
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne...	OMIM:615424
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome	Ectopia lentis	ORPHA:2084
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Trichomegaly	Cataract	OMIM:190330
Corneal Dystrophy, Lisch Epithelial	Corneal dystrophy	OMIM:300778
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic...	OMIM:608423
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Cataract 7	Developmental cataract	OMIM:115660
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus...	OMIM:620286
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ...	OMIM:271150
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red...	ORPHA:611
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:619733
Myopathy, Distal, Tateyama Type	Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ...	OMIM:614321
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Nonaka Myopathy	Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu...	OMIM:605820
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk...	OMIM:254110
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l...	ORPHA:603
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl...	OMIM:618129
Carnitine Deficiency, Myopathic	Myopathy, Reduced muscle carnitine level	OMIM:212160
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we...	OMIM:616199
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Juvenile cataract	OMIM:212500
Microphthalmia, Isolated, With Cataract 1	Microphthalmia, Cataract	OMIM:156850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers	OMIM:618992
Nathalie Syndrome	Cataract	ORPHA:2663
Nemaline Myopathy 6	Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy	OMIM:609273
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu...	OMIM:601846
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:608358
Rhabdomyolysis, Susceptibility To, 1	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,...	OMIM:620235
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617760
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Galactosemia Iv	Cataract	OMIM:618881
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc...	OMIM:612999
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib...	OMIM:619178
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology, Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy,...	OMIM:160565
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f...	OMIM:618823
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Uncombable Hair Syndrome 2	Juvenile cataract	OMIM:617251
Myopathy, Myofibrillar, 5	Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting	OMIM:609524
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Autophagic vacuoles	OMIM:609500
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H...	ORPHA:178464
Myopathy, Myofibrillar, 3	Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic...	OMIM:609200
Inclusion Body Myositis	Inflammatory myopathy, Rimmed vacuoles	OMIM:147421
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy	OMIM:208100
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy, Cataract, Corneal dystrophy	ORPHA:1369
Foveal Hypoplasia 1	Presenile cataracts	OMIM:136520
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Congenital Primary Aphakia	Microphthalmia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye,...	ORPHA:83461
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract	OMIM:274205
Myasthenic Syndrome, Congenital, 14	Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged...	OMIM:616228
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Posterior capsular cataract, Limb-girdle musc...	ORPHA:399058
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract	ORPHA:2253
Muscular Dystrophy, Limb-Girdle, Type 1H	Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ...	OMIM:613530
X-Linked Retinoschisis	Cataract	ORPHA:792
Dysequilibrium Syndrome	Skeletal muscle atrophy, Cataract	ORPHA:1766
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Congenital Myopathy 18	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e...	OMIM:620246
Myopathy, Centronuclear, 4	Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers	OMIM:614807
Bethlem Myopathy 1	Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A...	OMIM:158810
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle...	OMIM:618655
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Microphthalmia	OMIM:251505
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:611705
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Galactosemia Ii	Cataract	OMIM:230200
Oculopharyngeal Muscular Dystrophy	Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology	ORPHA:270
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract, Congenital muscular dystrophy	OMIM:254000
Nathalie Syndrome	Skeletal muscle atrophy, Cataract	OMIM:255990
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f...	OMIM:615422
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy...	ORPHA:86812
X-Linked Immunoneurologic Disorder	Myopathy, Cataract	ORPHA:2571
Acetyl-Coa Carboxylase Deficiency	Myopathy	OMIM:613933
Mitochondrial Myopathy With Diabetes	Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or...	OMIM:500002
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract, Tendon xanthomatosis	OMIM:618463
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Fingerprint Body Myopathy	Myopathy	OMIM:305550
Batten-Turner Congenital Myopathy	Myopathy	OMIM:255300
Merrf	Myopathy, Ragged-red muscle fibers	ORPHA:551
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Lens subluxation, Microphakia	ORPHA:171844
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat...	OMIM:181400
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Myopathy	ORPHA:88635
Spastic Paraparesis And Deafness	Cataract	OMIM:312910
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter	ORPHA:1878
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy	OMIM:212130
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Oculopharyngodistal Myopathy 2	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of...	OMIM:618940
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Myopathy, Myofibrillar, 2	Cataract, Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome ...	OMIM:608810
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Cataract	ORPHA:1381
Cataract 47	Microcornea, Cataract	OMIM:612018
Welander Distal Myopathy	Distal amyotrophy, Rimmed vacuoles	OMIM:604454
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Corneal dystrophy, Developmental cataract	OMIM:271320
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Microphthalmia, Corneal opacity	ORPHA:2432
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ...	OMIM:618848
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Myopathy	ORPHA:206599
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari...	OMIM:255320
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Myopathy, Distal, With Anterior Tibial Onset	Myopathy	OMIM:606768
Bethlem Myopathy 2	Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter	OMIM:616471
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase...	OMIM:617066
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Klhl9-Related Early-Onset Distal Myopathy	Ankle flexion contracture, Intrinsic hand muscle atrophy, Abnormality of the calf musculature, Am...	ORPHA:399081
Cortical Dysplasia, Complex, With Other Brain Malformations 4	Cataract	OMIM:615412
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Myopathy, Scapulohumeral muscular dystrophy	OMIM:160570
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi...	OMIM:620386
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc...	ORPHA:266
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617072
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Develop...	OMIM:248800
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Myopathy, Ragged-red muscle fibers	OMIM:545000
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w...	OMIM:619216
Congenital Myopathy With Myasthenic-Like Onset	Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred...	ORPHA:424107
Congenital Myopathy 3 With Rigid Spine	Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil...	OMIM:602771
Zebra Body Myopathy	Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr...	ORPHA:97240
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber...	OMIM:605355
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne...	ORPHA:598
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon	OMIM:609218
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes...	OMIM:616924
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Ocular anterior segment dysgenesis, Congenital muscular dystrophy, Developmental ...	ORPHA:324416
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle...	OMIM:620310
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ...	OMIM:612937
Spondylo-Ocular Syndrome	Cataract, Aplasia/Hypoplasia of the lens, Facial hypotonia, Microphthalmia, Iris hypopigmentation	ORPHA:85194
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Microcoria, Anophthalmia, Iris coloboma	OMIM:616428
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Myopathy	ORPHA:2579
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca...	OMIM:608099
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus...	OMIM:620138
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In...	ORPHA:486815
Adult-Onset Nemaline Myopathy	Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1...	ORPHA:171442
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I...	ORPHA:276435
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:2597
Congenital Myopathy 6 With Ophthalmoplegia	Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ...	OMIM:605637
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Congenital Disorder Of Glycosylation, Type Iid	Myopathy, Decreased muscle mass	OMIM:607091
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop...	OMIM:255160
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Myopathy,...	OMIM:167320
Distal Myopathy With Anterior Tibial Onset	Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h...	ORPHA:178400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy	OMIM:609283
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency	Myopathy	OMIM:616314
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ...	OMIM:618484
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Optic Atrophy 3, Autosomal Dominant	Cataract	OMIM:165300
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ...	OMIM:310440
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop...	OMIM:604229
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Microcornea, Skeletal muscle atrophy, Myopathy	ORPHA:300179
Congenital Myopathy 4B, Autosomal Recessive	Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, EMG: myopathic abnormalities,...	OMIM:609284
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Scapuloperoneal Myopathy, X-Linked Dominant	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,...	OMIM:300695
Mitochondrial Complex I Deficiency, Nuclear Type 25	Myopathy, Nemaline bodies	OMIM:618246
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Cataract, Muscular dystrophy	OMIM:615352
Corneal Dystrophy, Epithelial Basement Membrane	Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions	OMIM:121820
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc...	OMIM:619477
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:...	OMIM:253601
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy	OMIM:616209
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Oculoauricular Syndrome	Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcornea, Iris cyst, Posterior...	OMIM:612109
Benign Samaritan Congenital Myopathy	Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers	ORPHA:324581
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcornea, Microphthalmia, Cataract	ORPHA:2528
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers, Developmental cataract	OMIM:540000
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea...	OMIM:300580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Flexion contracture, Developmental cataract, Macroglossia, Calf muscle hypertrophy,...	OMIM:613155
X-Linked Centronuclear Myopathy	Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of...	ORPHA:596
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari...	OMIM:608807
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Creatine Phosphokinase, Elevated Serum	Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa...	OMIM:123320
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy	ORPHA:366
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Nemaline Myopathy 7	Fatty replacement of skeletal muscle, Knee flexion contracture, Shoulder girdle muscle weakness, ...	OMIM:610687
Myopathy, Centronuclear, 2	Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ...	OMIM:255200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness...	OMIM:611307
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Ectopia lentis	ORPHA:1068
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Abnormal muscle fiber protein expression, Developmental cataract	ORPHA:330054
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma	OMIM:614497
Congenital Varicella Syndrome	Microphthalmia, Cataract	ORPHA:291
Myopia 17, Autosomal Dominant	Presenile cataracts	OMIM:608367
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Cataract, Camptodactyly of finger, Flexion contracture, ...	ORPHA:272
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Bardet-Biedl Syndrome 18	Cataract	OMIM:615995
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro...	ORPHA:2334
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo...	ORPHA:457050
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Myopathy	OMIM:230450
Leukoencephalopathy With Vanishing White Matter 2	Cataract, Lower limb muscle weakness	OMIM:620312
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cataract, Iris coloboma	OMIM:120433
Weill-Marchesani Syndrome 3	Shallow anterior chamber, Microspherophakia, Ectopia lentis	OMIM:614819
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ...	OMIM:603689
Myopathy, Myofibrillar, 4	Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting	OMIM:609452
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Mitochondrial Myopathy, Lethal, Infantile	Myopathy	OMIM:551000
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Limb muscle weakness, Myopathy, Type 1 muscle fiber predominance, Type 2 m...	OMIM:603034
Duane Anomaly-Myopathy-Scoliosis Syndrome	Myopathy	ORPHA:50817
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l...	ORPHA:59135
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S...	OMIM:300696
Myasthenic Syndrome, Congenital, 25, Presynaptic	Myopathy, Flexion contracture, Generalized amyotrophy	OMIM:618323
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Nemaline Myopathy 8	Myofibrillar myopathy, Flexion contracture, Facial palsy, Nemaline bodies	OMIM:615348
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur...	OMIM:620068
Central Core Disease	Multiple joint contractures, Myopathy, Type 1 muscle fiber predominance, Pelvic girdle muscle wea...	ORPHA:597
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Cataract, Limb-girdle muscle weakness, Viral infection-induced rhabdomyolysis, Limb-girdle muscle...	ORPHA:329314
Spastic Paraparesis-Deafness Syndrome	Cataract	ORPHA:2815
Nail-Patella Syndrome	Keratoconus, Biceps aplasia, Cataract, Absence of pectoralis minor muscle, Triceps aplasia, Antec...	OMIM:161200
Distal Myotilinopathy	EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib...	ORPHA:98911
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
Rigid Spine Syndrome	Hip contracture, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Myop...	ORPHA:97244
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Cataract	OMIM:278780
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Bilateral microphthalmos, Anophthalmia, Iris coloboma	OMIM:611638
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A...	OMIM:619566
Proximal Myopathy With Extrapyramidal Signs	Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ...	ORPHA:401768
Congenital Myopathy 4A, Autosomal Dominant	Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Facial palsy, Centra...	OMIM:255310
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Amyotrophy of ankle musculat...	ORPHA:399086
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Myopathy, Distal, 3	Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han...	OMIM:610099
King-Denborough Syndrome	Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle fiber atroph...	OMIM:619542
Mitochondrial Complex I Deficiency, Nuclear Type 21	Myopathy, Ragged-red muscle fibers	OMIM:618242
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Fatty replacement of skeletal muscle, Myopathy	OMIM:255100
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly	OMIM:610023
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Hyperferritinemia With Or Without Cataract	Nuclear cataract, Pulverulent cataract	OMIM:600886
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Abnormality ...	ORPHA:169189
Myopathy, Myofibrillar, 8	Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Joint ...	OMIM:617258
Childhood-Onset Nemaline Myopathy	Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at...	ORPHA:171439
2Q24 Microdeletion Syndrome	Microphthalmia, Cataract, Camptodactyly of finger, Abnormality iris morphology	ORPHA:1617
Congenital Myasthenic Syndromes With Glycosylation Defect	Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness...	ORPHA:353327
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Myopathy, Centronuclear, 5	Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers	OMIM:615959
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr...	ORPHA:254864
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Microphthalmia, Posterior embryotoxon, Iris coloboma	ORPHA:1473
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy	OMIM:605809
Muscle Filaminopathy	Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m...	ORPHA:171445
Retinitis Pigmentosa 40	Cataract	OMIM:613801
Myopathy And Diabetes Mellitus	Distal lower limb amyotrophy, Achilles tendon contracture, Proximal amyotrophy, Skeletal myopathy...	ORPHA:2596
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Increased variability in muscle fiber diameter	OMIM:616816
Leg, Absence Deformity Of, With Congenital Cataract	Progressive cataract, Developmental cataract	OMIM:246000
Gombo Syndrome	Microphthalmia	OMIM:233270
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ...	OMIM:310300
Heart-Hand Syndrome, Slovenian Type	Myopathy	OMIM:610140
Coats Disease	Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi...	OMIM:610202
Miyoshi Muscular Dystrophy 1	Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet...	OMIM:254130
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Muscular dystrophy	OMIM:614830
Cataract 41	Nuclear cataract	OMIM:116400
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Faci...	ORPHA:169186
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Cataract, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Muscle fiber atrophy	ORPHA:369840
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Camptodactyly of finger, Acute rhabdomyolysis, Microcornea, Microphthalmia	ORPHA:48431
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract	OMIM:611544
Kahrizi Syndrome	Elbow contracture, Cataract, Iris coloboma, Knee flexion contracture	OMIM:612713
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Centrally nucleated skeletal muscle ...	OMIM:619518
Leber Hereditary Optic Neuropathy	Myopathy	ORPHA:104
Pellagra-Like Syndrome	Cataract	OMIM:260650
Dna2-Related Mitochondrial Dna Deletion Syndrome	Limb-girdle muscle weakness, Multiple joint contractures, Myopathy	ORPHA:352470
Familial Isolated Hypoparathyroidism	Myopathy, Cataract	ORPHA:2238
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Cataract, Optic nerve hypoplasia, Muscular dystrophy	OMIM:615181
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract	ORPHA:2278
Lissencephaly 8	Microphthalmia, Cataract, Skeletal muscle atrophy	OMIM:617255
Sandhoff Disease, Adult Form	Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs	ORPHA:309169
Congenital Muscular Dystrophy Without Intellectual Disability	Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co...	ORPHA:370980
Autosomal Recessive Spastic Paraplegia Type 69	Cataract	ORPHA:401830
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Neuropathy, Ataxia, And Retinitis Pigmentosa	Myopathy	OMIM:551500
Cofs Syndrome	Microphthalmia, Cataract, Arthrogryposis multiplex congenita, Camptodactyly of finger	ORPHA:1466
Amyotrophic Lateral Sclerosis 21	Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness...	OMIM:606070
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cataract, Congenital muscular dystrophy	ORPHA:1875
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina...	ORPHA:98902
Microphthalmia, Syndromic 13	Microcornea, Microphthalmia, Iris coloboma	OMIM:300915
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Isolated Glycerol Kinase Deficiency	Myopathy	ORPHA:408
Immunodeficiency 10	Hypoplasia of the iris, Myopathy	OMIM:612783
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ...	OMIM:619790
Sengers Syndrome	Myopathy, Cataract, Developmental cataract	OMIM:212350
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions	OMIM:217800
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Arthrogryposis multiplex congenita	OMIM:616570
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Ragged-red muscle fibers...	OMIM:160500
Familial Isolated Dilated Cardiomyopathy	Myopathy	ORPHA:154
Aniridia 3	Aniridia, Cataract	OMIM:617142
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Keratitis, Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber dia...	OMIM:226670
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature	OMIM:617069
Leber Congenital Amaurosis 6	Keratoconus, Cataract	OMIM:613826
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Spinal Muscular Atrophy, X-Linked 2	Multiple joint contractures, Spinal muscular atrophy, Facial palsy, Flexion contracture, Myopathy...	OMIM:301830
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Myopathy, Cataract, Limb-girdle muscular dystrophy	ORPHA:369847
Nemaline Myopathy 2	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Thenar muscle atrophy, Fatty replacement ...	OMIM:256030
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Muscular Dystrophy, Barnes Type	Myopathy, Muscular dystrophy	OMIM:158800
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo...	OMIM:608340
Cataract 2, Multiple Types	Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c...	OMIM:604307
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microcornea, Microphthalmia, Cataract	OMIM:616171
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno...	OMIM:618654
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ...	ORPHA:119
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Isolated Aniridia	Aniridia, Cataract, Peters anomaly	ORPHA:250923
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Cataract, Centrally nucleated skeletal muscle fibers, ...	OMIM:607459
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ...	OMIM:620249
Chanarin-Dorfman Syndrome	Myopathy, Subcapsular cataract	OMIM:275630
Myopathy Due To Myoadenylate Deaminase Deficiency	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy	OMIM:615511
Cataract 48	Cataract	OMIM:618415
Adrenomyodystrophy	Myopathy, Megalocornea	ORPHA:977
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Cataract, Achilles tendon contracture, Ragged-red muscle fibers, Left ve...	OMIM:615418
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Skeletal muscle hypertrophy, Macroglossia, Myopathy	ORPHA:2349
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, Muscle fi...	OMIM:603511
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14	Hypoglycosylation of alpha-dystroglycan, Cataract, Muscular dystrophy	OMIM:615350
Adducted Thumbs Syndrome	Myopathy, Arthrogryposis multiplex congenita	OMIM:201550
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Knee flexion contracture, Astigmatism, Camptodactyly, Microphthalmia	OMIM:619694
Microphthalmia, Isolated 5	Microphthalmia, Cataract	OMIM:611040
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Ant...	OMIM:616503
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Cataract	OMIM:300261
Muscle-Eye-Brain Disease	Myopathy, Cataract	ORPHA:588
Hypokalemic Periodic Paralysis, Type 2	Myopathy	OMIM:613345
Neutral Lipid Storage Disease With Myopathy	Myopathy, Increased muscle lipid content	OMIM:610717
Malignant Hyperthermia, Susceptibility To, 2	Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind...	OMIM:154275
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Mitochondrial Myopathy And Sideroblastic Anemia	Myopathy, Generalized limb muscle atrophy	ORPHA:2598
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Triceps weakness, Intrinsic hand muscle atrophy, Foot dorsiflexor weakness, Centrally nucleated s...	OMIM:619574
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w...	ORPHA:353
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co...	OMIM:620351
Mitochondrial Complex I Deficiency, Nuclear Type 15	Myopathy, Flexion contracture	OMIM:618237
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:98855
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E...	ORPHA:397744
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Myopathy, Increased variability in muscle fiber diameter	OMIM:125250
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Myopathy, Muscle ...	ORPHA:254886
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity, Muscular dystrophy, Left ventricular hypertrophy, Microphthalmia	OMIM:613153
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Microphthalmia, Iris coloboma	ORPHA:2791
Amyotrophic Lateral Sclerosis 20	Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles	OMIM:615426
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Microphthalmia, Posterior lenticonus, Iris coloboma	ORPHA:231736
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Cataract, Left ventricular noncompaction, Increas...	OMIM:617228
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Congenital diaphragmatic hernia	OMIM:615524
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Decreased muscle mass, Cataract	ORPHA:3433
Glycogen Storage Disease X	Myopathy, Rhabdomyolysis	OMIM:261670
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Flexion contracture, Myopathy	ORPHA:157973
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist...	OMIM:619473
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Shallow anterior chamber	OMIM:267760
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi...	OMIM:300718
Malignant Hyperthermia, Susceptibility To, 3	Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind...	OMIM:154276
Muscular Dystrophy, Congenital, Megaconial Type	Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy	OMIM:602541
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo...	ORPHA:206569
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi...	OMIM:253700
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ...	ORPHA:171433
Absence Deformity Of Leg-Cataract Syndrome	Cataract	ORPHA:2310
Myotubular Myopathy With Abnormal Genital Development	Myopathy, Centrally nucleated skeletal muscle fibers	OMIM:300219
Congenital Myopathy 10A, Severe Variant	Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib...	OMIM:614399
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Lens subluxation	OMIM:614292
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Myopathy	ORPHA:91130
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn...	ORPHA:75840
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Cataract, Proximal amyotrophy	OMIM:617404
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Hypoglycosylation of alpha-dystroglycan, Cataract, Generalized limb muscle atrophy, Muscular dyst...	OMIM:615351
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lens coloboma, Small thenar eminence, Joint contracture of the 4th finger, Joint contracture of t...	OMIM:618914
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Cataract, Optic nerve hyp...	ORPHA:370959
Marinesco-Sjögren Syndrome	Skeletal muscle atrophy, Cataract, Myopathy, Muscular dystrophy, Aplasia/Hypoplasia involving the...	ORPHA:559
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn...	OMIM:300559
Nanophthalmos	Microphthalmia	ORPHA:35612
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S...	ORPHA:57
Hypophosphatasia, Childhood	Myopathy	OMIM:241510
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract	OMIM:183800
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Cataract, Camptodactyly of finger, Developmental cataract	OMIM:610756
Lethal Congenital Contracture Syndrome 5	Congenital contracture, Flexion contracture, Centrally nucleated skeletal muscle fibers	OMIM:615368
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle muscle weakness	OMIM:615156
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:98853
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex...	ORPHA:1145
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta...	ORPHA:329478
Martsolf Syndrome 2	Cataract, Camptodactyly of finger, Camptodactyly, Developmental cataract	OMIM:619420
Retinitis Pigmentosa 9	Cataract	OMIM:180104
Mitochondrial Complex I Deficiency, Nuclear Type 14	Myopathy	OMIM:618236
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy	OMIM:610048
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract	OMIM:610156
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy...	OMIM:608840
Congenital Myopathy 14	Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ...	OMIM:618414
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Myopathy, Peters anomaly, Microphtha...	OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Increased variability in muscle fiber diameter, Buphthalmos, Muscular dystrophy, Microp...	OMIM:616538
Short Chain Acyl-Coa Dehydrogenase Deficiency	Myopathy	ORPHA:26792
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ...	ORPHA:178148
Mitochondrial Myopathy, Infantile, Transient	Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen...	OMIM:500009
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cataract	OMIM:601794
Congenital Myopathy 16	EMG: myopathic abnormalities, Scapular winging, Flexion contracture	OMIM:618524
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Cataract	ORPHA:1373
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Presenile cataracts, Limb muscle ...	OMIM:112250
Glutamate-Cysteine Ligase Deficiency	Myopathy	ORPHA:33574
Kniest Dysplasia	Cataract, Flexion contracture of finger, Aplasia/Hypoplasia of the lens, Lens luxation	ORPHA:485
Myopathy, Myofibrillar, 6	Scapular winging, Facial palsy, Knee flexion contracture, Generalized amyotrophy, Muscular dystro...	OMIM:612954
Dpm3-Cdg	Calf muscle hypertrophy, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness	ORPHA:263494
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo...	OMIM:609560
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Cataract	OMIM:251270
Vitreoretinal Degeneration, Snowflake Type	Cataract, Corneal guttata	OMIM:193230
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Cataract	ORPHA:363741
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:617070
Nanophthalmos 4	Microphthalmia	OMIM:615972
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Spastic Paraplegia 5A, Autosomal Recessive	Cataract, Lower limb muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness, Lower li...	OMIM:270800
Acquired Partial Lipodystrophy	Myopathy	ORPHA:79087
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Weakness of facial musculature, Flexion contracture, Myopathy, Sutural cataract	OMIM:201470
Myasthenic Syndrome, Congenital, 12	Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy	OMIM:610542
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Leber Congenital Amaurosis 16	Cataract	OMIM:614186
Cataract 24	Anterior polar cataract	OMIM:601202
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Buphthalmos, Microphthalmia, Iris coloboma	OMIM:212550
Combined Oxidative Phosphorylation Deficiency 13	Skeletal muscle atrophy, Cataract	OMIM:614932
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ...	OMIM:620265
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract	ORPHA:2489
Glycogen Storage Disease Iii	Myopathy, Distal amyotrophy	OMIM:232400
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Skeletal muscle atrophy, Myopathy, Spinal muscular atrophy, Weakness of facial musculature	ORPHA:254875
Congenital Myopathy 2A, Typical, Autosomal Dominant	Facial palsy, Limb muscle weakness, Type 1 muscle fiber predominance, Arthrogryposis multiplex co...	OMIM:161800
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr...	ORPHA:254361
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Abnormally large globe, Flexion contracture, Muscular dystrophy, Microphthalmia	OMIM:615249
Autosomal Dominant Optic Atrophy, Classic Form	Skeletal muscle atrophy, Scapular winging, Cataract, Myopathy, Weakness of facial musculature	ORPHA:98673
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Lower limb muscle weakness, Muscular dystrophy, Myopathy	OMIM:615980
Stiff Skin Syndrome	Cataract, Elbow flexion contracture, Camptodactyly, Knee flexion contracture	OMIM:184900
Congenital Rubella Syndrome	Cataract, Corneal opacity, Patent ductus arteriosus, Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:290
Frontonasal Dysplasia 1	Cataract, Pectoral muscle hypoplasia/aplasia, Camptodactyly, Microphthalmia, Joint contracture of...	OMIM:136760
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles...	ORPHA:98913
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Typical Nemaline Myopathy	Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f...	ORPHA:171436
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i...	OMIM:613157
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Increased variability in muscle fiber diameter, Buphthalmos, Skeletal muscle hypertroph...	OMIM:613150
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia	OMIM:601349
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Cataract, Fatty replacement of skeletal muscle, Generalized amyotrophy, Increased variability in ...	ORPHA:52430
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Cataract 6, Multiple Types	Posterior polar cataract, Developmental cataract	OMIM:116600
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Nemaline bodies, Flexion contracture, Myopathy	OMIM:616549
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Upper limb muscle weakness, Distal amyotrophy, Lower limb muscle weakness, EMG: myopathic abnorma...	ORPHA:99939
Adams-Oliver Syndrome 4	Microphthalmia, Patent ductus arteriosus	OMIM:615297
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Galactose Epimerase Deficiency	Cataract	ORPHA:79238
Microphthalmia With Brain And Digit Anomalies	Cataract, Anophthalmia, Sclerocornea, Microcornea, Microphthalmia, Iris coloboma	ORPHA:139471
Nance-Horan Syndrome	Microcornea, Microphthalmia, Cataract	ORPHA:627
Warburg Micro Syndrome 1	Microcornea, Microphthalmia, Developmental cataract	OMIM:600118
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a...	OMIM:606612
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Cataract	OMIM:613730
Mitochondrial Complex I Deficiency, Nuclear Type 11	Myopathy	OMIM:618234
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Weakness of facial musculature, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy	ORPHA:352447
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Facial hypotonia, Peters anomaly	OMIM:614526
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Ragged-red muscle fibers, EMG: myopathic abnormalities, Cataract, Limb muscle weakness	OMIM:609286
Cardiomyopathy, Dilated, 1Ii	Cataract	OMIM:615184
Usher Syndrome Type 3	Cataract, Astigmatism, Iris hypopigmentation	ORPHA:231183
Hypokalemic Periodic Paralysis, Type 1	Myopathy	OMIM:170400
Autosomal Recessive Spastic Paraplegia Type 26	Skeletal muscle atrophy, Cataract	ORPHA:101006
Bethlem Myopathy	Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ...	ORPHA:610
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Skeletal muscle atrophy, Joint contracture, Cataract	OMIM:615704
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy	OMIM:607855
Galactose Mutarotase Deficiency	Cataract	ORPHA:570422
Peroxisome Biogenesis Disorder 11B	Cataract	OMIM:614885
Cat-Eye Syndrome	Microphthalmia, Iris coloboma	ORPHA:195
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Microcornea, Buphthalmos, Shallow anterior...	OMIM:221900
Warburg Micro Syndrome 3	Decreased muscle mass, Cataract, Flexion contracture, Developmental cataract, Microcornea, Shallo...	OMIM:614222
Retinitis Pigmentosa 84	Cataract	OMIM:618220
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium	OMIM:619339
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Microphthalmia	OMIM:152950
Microphthalmia, Isolated, With Coloboma 9	Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma	OMIM:615145
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	ORPHA:1806
Warburg Micro Syndrome 4	Decreased muscle mass, Flexion contracture, Developmental cataract, Microcornea, Microphthalmia	OMIM:615663
Sanjad-Sakati Syndrome	Myopathy, Astigmatism, Corneal opacity, Aplasia/Hypoplasia affecting the eye	ORPHA:2323
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Cataract	OMIM:618805
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Stickler Syndrome, Type V	Cataract	OMIM:614284
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox...	OMIM:614302
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Retinitis Pigmentosa 4	Cataract	OMIM:613731
Spinocerebellar Ataxia With Epilepsy	Myopathy	ORPHA:254881
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Flexion contracture, Skeletal muscle hypertrophy, Mus...	OMIM:613327
Leukodystrophy, Hypomyelinating, 24	Cataract, Flexion contracture	OMIM:619851
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Developmental cataract	OMIM:613763
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Distal amyotrophy, Subcapsular cataract, Achilles tendon contracture, Cataract	OMIM:612674
Microphthalmia, Syndromic 5	Cataract, Anophthalmia, Optic nerve hypoplasia, Microcornea, Microphthalmia	OMIM:610125
Mmep Syndrome	Microphthalmia	ORPHA:3434
Pierpont Syndrome	Microcornea, Microphthalmia	ORPHA:487825
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Developmental cataract, Microcornea, Bupht...	ORPHA:91495
Cerebrooculofacioskeletal Syndrome 1	Cataract, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Camptodactyly...	OMIM:214150
Dermatitis, Atopic	Keratoconus, Cataract, Conjunctivitis	OMIM:603165
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hypoplasia of the iris, Myopathy	ORPHA:169090
Walker-Warburg Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Anophthalmia, Cat...	ORPHA:899
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Buphthalmos, Hypoglycosylation of alpha-dystroglycan, Cataract	ORPHA:370997
Phosphoglycerate Kinase 1 Deficiency	Myopathy, Rhabdomyolysis	OMIM:300653
Vitreoretinochoroidopathy	Microcornea, Microphthalmia, Pulverulent cataract, Developmental cataract	OMIM:193220
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Cataract	ORPHA:93267
Achromatopsia 3	Cataract	OMIM:262300
Herpes Simplex Virus Stromal Keratitis	Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ...	ORPHA:137599
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Neutral Lipid Storage Disease With Ichthyosis	Myopathy, Shoulder girdle muscle weakness, Increased intramyocellular lipid droplets, EMG: myopat...	ORPHA:98907
Cataract 23, Multiple Types	Lamellar cataract	OMIM:610425
Pontocerebellar Hypoplasia, Type 16	Skeletal muscle atrophy, Cataract, Limb hypertonia	OMIM:619527
Myofibrillar Myopathy 10	Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ventricular ...	OMIM:619040
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Myopathy	ORPHA:166002
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature	OMIM:616239
Cataracts, Spastic Paraparesis, And Speech Delay	Cataract	OMIM:619338
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Ragged-red muscle fibers	ORPHA:480
Cystinosis	Myopathy, Corneal opacity	ORPHA:213
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Congenital diaphragmatic hernia	OMIM:300887
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Cataract, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb m...	OMIM:157640
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Adams-Oliver Syndrome 2	Microphthalmia, Limb hypertonia, Developmental cataract	OMIM:614219
Warburg Micro Syndrome 2	Cataract, Flexion contracture, Developmental cataract, Microcornea, Microphthalmia	OMIM:614225
Vocal Cord And Pharyngeal Distal Myopathy	Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ...	ORPHA:600
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Camptodactyly of toe, Aniridia, Microphthalmia, Iris coloboma	ORPHA:251038
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc...	OMIM:255125
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Nance-Horan Syndrome	Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract	OMIM:302350
Congenital Fibrinogen Deficiency	Left ventricular hypertrophy, Microphthalmia, Right ventricular hypertrophy, Developmental cataract	ORPHA:335
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Coloboma, Ocular, Autosomal Recessive	Iris coloboma, Cataract, Lens subluxation	OMIM:216820
Pierpont Syndrome	Microcornea, Microphthalmia	OMIM:602342
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Oculofaciocardiodental Syndrome	Cataract, Ectopia lentis, Patent ductus arteriosus, Flexion contracture of the 4th toe, Microcorn...	ORPHA:2712
Temtamy Syndrome	Microphthalmia, Iris coloboma	ORPHA:1777
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Abnormal anterior eye segment morphology	ORPHA:209956
Axial Osteomalacia	Myopathy	OMIM:109130
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop...	OMIM:620285
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma	ORPHA:1791
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:85329
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microcornea, Iris transillumination defect, Cataract, Microphthalmia	OMIM:617306
Aniridia-Absent Patella Syndrome	Aniridia, Cataract	ORPHA:1069
Combined Oxidative Phosphorylation Deficiency 33	Left ventricular hypertrophy, Myopathy, Astigmatism	OMIM:617713
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia, Corneal opacity, Peters anomaly	OMIM:120200
Leber Congenital Amaurosis	Keratoconus, Cataract	ORPHA:65
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Patent ductus arteriosus, Peters anomaly	OMIM:618652
Refsum Disease	Microphthalmia, Cataract, Skeletal muscle atrophy	ORPHA:773
Usher Syndrome	Myopathy, Astigmatism, Cataract	ORPHA:886
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Skeletal muscle atrophy, Cataract	OMIM:162400
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Patent ductus arteriosus, Microspherophaki...	OMIM:608328
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal dystrophy, Corneal guttata	OMIM:613268
Morning Glory Disc Anomaly	Cataract	ORPHA:35737
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Patent ductus arteriosus, Camptodactyly of finger	ORPHA:2547
Autosomal Dominant Optic Atrophy Plus Syndrome	Limb-girdle muscle weakness, Myopathy	ORPHA:1215
Myopathy, Myofibrillar, 1	EMG: myopathic abnormalities, Facial palsy	OMIM:601419
Autosomal Recessive Spastic Paraplegia Type 5A	Cataract, Lower limb muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness, Lower li...	ORPHA:100986
Hereditary Leiomyomatosis And Renal Cell Cancer	Uterine leiomyosarcoma, Cataract	ORPHA:523
Leber Congenital Amaurosis 8	Keratoconus, Cataract	OMIM:613835
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Sandestig-Stefanova Syndrome	Microphthalmia, Camptodactyly, Developmental cataract	OMIM:618804
Vitamin K Antagonist Embryofetopathy	Macroglossia, Cataract, Aplasia/Hypoplasia affecting the eye	ORPHA:1914
Weill-Marchesani Syndrome 1	Cataract, Ectopia lentis, Patent ductus arteriosus, Microspherophakia, Shallow anterior chamber	OMIM:277600
Weill-Marchesani Syndrome	Cataract, Ectopia lentis	ORPHA:3449
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Temtamy Syndrome	Microphthalmia, Ectopia lentis, Iris coloboma, Lens luxation	OMIM:218340
Vernal Keratoconjunctivitis	Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate...	ORPHA:70476
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract	ORPHA:1366
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Sclerocornea, Patent ductus arteriosus, Microphthalmia, Iris coloboma	ORPHA:77298
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Woolly Hair	Abnormal pupil morphology, Cataract	ORPHA:170
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Distal arthrogryposis, Myopathy	ORPHA:42
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Corneal opacity	ORPHA:2788
Pelvis-Shoulder Dysplasia	Microphthalmia, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Familial Partial Lipodystrophy, Dunnigan Type	Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size	ORPHA:2348
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Spastic Paraplegia 9B, Autosomal Recessive	Skeletal muscle atrophy, Cataract, Foot dorsiflexor weakness	OMIM:616586
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Severe Neurodegenerative Syndrome With Lipodystrophy	Myopathy	ORPHA:363400
Pierson Syndrome	Skeletal muscle atrophy, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropio...	OMIM:609049
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ...	OMIM:258450
Histiocytoid Cardiomyopathy	Microphthalmia, Megalocornea, Corneal opacity, Congenital aphakia	ORPHA:137675
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Myopathy, Increased variability in muscle fiber diameter	OMIM:604377
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Knee flexion contracture, Distal amyotrophy, Skeletal myopathy, Lower li...	ORPHA:3208
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Anophthalmia, Sclerocornea, Microcornea, Ectopia pupillae, Microphthalmia	OMIM:615877
Hyperkalemic Periodic Paralysis	Skeletal muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Myopathy	ORPHA:682
Pparg-Related Familial Partial Lipodystrophy	Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus...	ORPHA:79083
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Cataract, Facial palsy, Hypoplasia of the musculature, Flexion contractu...	OMIM:254940
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal...	ORPHA:649
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Myopathy	ORPHA:1876
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Trisomy 13	Cataract, Anophthalmia, Patent ductus arteriosus, Aplasia/Hypoplasia of the iris, Microphthalmia,...	ORPHA:3378
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myopathy, Rhabdomyolysis	ORPHA:713
Cap Myopathy	Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In...	ORPHA:171881
Kapur-Toriello Syndrome	Cataract, Camptodactyly of finger, Patent ductus arteriosus, Microphthalmia, Joint contracture of...	OMIM:244300
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Microphthalmia, Heterochromia irid...	ORPHA:42775
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Carnitine Deficiency, Systemic Primary	Myopathy, Reduced muscle carnitine level	OMIM:212140
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Bilateral microphthalmos, Microphthalmia, Conjunctival hyperemia	ORPHA:2399
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Camptodactyly of finger, Sclerocornea, Microphthalmia, Iris hypopigmen...	ORPHA:284160
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu...	OMIM:278730
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Type 1 m...	ORPHA:98915
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, General...	ORPHA:324604
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Cataract	OMIM:612379
Autosomal Dominant Progressive External Ophthalmoplegia	Cataract, Facial palsy, Quadriceps muscle weakness, Ragged-red muscle fibers, Limb muscle weaknes...	ORPHA:254892
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Flexion contracture, Optic nerve hypoplasia	OMIM:614833
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Myopathy	OMIM:613077
Xanthinuria, Type I	Myopathy	OMIM:278300
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Carcinoid Syndrome	Myopathy, Hepatic necrosis	ORPHA:100093
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Muscle fiber necrosis...	OMIM:254090
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, Cataract	OMIM:614105
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Cataract, Hand muscle weakness, Developmental glaucoma, ...	ORPHA:99956
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis	ORPHA:411777
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Band keratopathy	OMIM:604278
Oculopalatocerebral Syndrome	Microphthalmia, Leukocoria	OMIM:257910
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy	ORPHA:367
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Cataract, Flexion contracture, Calf muscle hypertrophy, Microphthalmia, ...	OMIM:253800
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Cataract, Developmental cataract	OMIM:616395
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Ruijs-Aalfs Syndrome	Skeletal muscle atrophy, Posterior subcapsular cataract, Cataract, Elbow flexion contracture	OMIM:616200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Flexion contracture, Developmental cataract, Posterior synechiae of the anterior chamber, Muscula...	OMIM:613154
X-Linked Dominant Chondrodysplasia Punctata	Microcornea, Microphthalmia, Cataract, Flexion contracture	ORPHA:35173
Peroxisome Biogenesis Disorder 10B	Cataract	OMIM:617370
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Optic nerve hypoplasia, Muscular dystrophy, Peters anomaly, Microphthalmia	OMIM:614643
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Skeletal muscle atrophy, Patent ductus arteriosus, Microcornea, Myopathy, Type 1 muscle fiber pre...	OMIM:614557
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Astigmatism, Iris coloboma, Peters anomaly	ORPHA:494344
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Myopathy	ORPHA:257
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Leber Optic Atrophy	Myopathy	OMIM:535000
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Microcornea, Microphthalmia, Iris coloboma	ORPHA:3301
Osteopetrosis, Autosomal Recessive 8	Facial palsy, Unilateral microphthalmos	OMIM:615085
Bresek Syndrome	Optic nerve hypoplasia, Microphthalmia, Iris coloboma	ORPHA:85284
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Immunodeficiency 9	Myopathy	OMIM:612782
Hypokalemic Periodic Paralysis	Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology	ORPHA:681
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Shallow anterior chamber	OMIM:305390
Frontorhiny	Microphthalmia, Cataract, Camptodactyly of finger, Iris coloboma	ORPHA:391474
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Cataract	ORPHA:70595
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Optic nerve hypoplasia, Buphthalmos, Congenital contracture, Peters an...	OMIM:236670
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, Cataract	ORPHA:163649
Microphthalmia, Lenz Type	Cataract, Camptodactyly of finger, Microcornea, Microphthalmia, Iris coloboma	ORPHA:568
Developmental Malformations-Deafness-Dystonia Syndrome	Macroglossia, Cataract	ORPHA:79107
Neutral Lipid Storage Myopathy	Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Myop...	ORPHA:98908
Marfan Syndrome	Decreased muscle mass, Cataract, Ectopia lentis, Microspherophakia, Increased axial length of the...	OMIM:154700
Chylomicron Retention Disease	Myopathy, EMG: myopathic abnormalities	ORPHA:71
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Congenital diaphragmatic hernia, Peters anomaly, Microphthalmia, Iris col...	OMIM:309801
Ifap Syndrome 2	Keratitis, Keratoconjunctivitis sicca, Cataract	OMIM:619016
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Macroglossia, Arthrogryposis-like hand anomaly, Camptodactyly, Ocular a...	ORPHA:369891
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia, Congenital diaphragmatic hernia	ORPHA:2470
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Myopathy, Rhabdomyolysis	ORPHA:228305
Hypoparathyroidism, Familial Isolated, 1	Cataract	OMIM:146200
Premature Aging Syndrome, Okamoto Type	Cataract	OMIM:601811
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	EMG: myopathic abnormalities	ORPHA:457365
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia, Ectopia pupillae, Astigmatism, Cataract	OMIM:618727
Familial Exudative Vitreoretinopathy	Microphthalmia, Cataract	ORPHA:891
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Trichothiodystrophy 1, Photosensitive	Cataract, Flexion contracture, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	OMIM:601675
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Cataract, Sclerocornea, Camptodactyly	OMIM:614230
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Cataract	OMIM:619649
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Corneal erosion, Cataract	OMIM:614878
Musculocontractural Ehlers-Danlos Syndrome	Arthrogryposis multiplex congenita, Decreased muscle mass, Astigmatism, Myopathy	ORPHA:2953
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Increased variability in muscle fiber diameter, Increased muscle glycogen content, Increased intr...	ORPHA:502423
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia	OMIM:613885
Greig Cephalopolysyndactyly Syndrome	Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology	OMIM:175700
Kapur-Toriello Syndrome	Microphthalmia, Patent ductus arteriosus, Iris coloboma	ORPHA:2328
Congenital Myopathy 9A	EMG: myopathic abnormalities	OMIM:618822
Vici Syndrome	Cataract, Ocular albinism, Developmental cataract, Myopathy, Macular hypoplasia, Left ventricular...	OMIM:242840
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Moebius Syndrome	Congenital fibrosis of extraocular muscles, Facial diplegia, Camptodactyly, Microphthalmia, Arthr...	OMIM:157900
Schwartz-Jampel Syndrome	Hip contracture, Skeletal muscle atrophy, Cataract, Shoulder flexion contracture, Ectopia lentis,...	ORPHA:800
Neuroocular Syndrome	Hypoplasia of the fovea, Scapular winging, Cataract, Brushfield spots, Lens coloboma, Blue irides...	OMIM:619539
Brittle Cornea Syndrome 1	Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness	OMIM:229200
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Decreased muscle mass, Decreased muscle glycogen content, Upper limb muscle weakness, Shoulder gi...	ORPHA:263297
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Astigmatism, Cataract	OMIM:618571
Alport Syndrome 2, Autosomal Recessive	Corneal erosion, Cataract, Anterior lenticonus	OMIM:203780
Baraitser-Winter Syndrome 1	Microphthalmia, Patent ductus arteriosus, Iris coloboma	OMIM:243310
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Cataract, Lower limb muscle weakness, Distal lower limb ...	ORPHA:363623
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Glycogen Storage Disease Xii	Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting	OMIM:611881
Stevenson-Carey Syndrome	Microphthalmia, Joint contracture of the hand, Camptodactyly	OMIM:611961
Combined Oxidative Phosphorylation Deficiency 55	Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy	OMIM:619743
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Aplasia of the pectoralis major muscle, Myopathy, Facial palsy	ORPHA:1358
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Fetal Alcohol Syndrome	Microphthalmia, Congenital diaphragmatic hernia	ORPHA:1915
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Conjunctival hyperemia	OMIM:167730
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, Increased variability in ...	OMIM:616866
Acyl-Coa Dehydrogenase 9 Deficiency	Myopathy, EMG: myopathic abnormalities	ORPHA:99901
Mitochondrial Trifunctional Protein Deficiency 1	Myopathy, Rhabdomyolysis	OMIM:609015
Curry-Jones Syndrome	Microphthalmia, Iris coloboma	ORPHA:1553
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Limbal dermoid, Microphthalmia, Sclerocornea	OMIM:613001
Xp21 Deletion Syndrome	Calf muscle hypertrophy, Myopathy, Decreased muscle mass	ORPHA:261476
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Mcleod Syndrome	Myopathy, Rhabdomyolysis	OMIM:300842
Trichothiodystrophy 4, Nonphotosensitive	Microcornea, Microphthalmia, Keratoconjunctivitis sicca	OMIM:234050
Leigh Syndrome	Multiple joint contractures, Myopathy, Cataract, Skeletal muscle atrophy	ORPHA:506
Phace Association	Microphthalmia, Patent ductus arteriosus, Optic nerve hypoplasia, Developmental cataract	OMIM:606519
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Congenital Myopathy 21 With Early Respiratory Failure	EMG: myopathic abnormalities	OMIM:620326
Oculoauriculovertebral Spectrum With Radial Defects	EMG: myopathic abnormalities, Aplasia/Hypoplasia affecting the eye	ORPHA:2549
Danon Disease	Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,...	OMIM:300257
Micro Syndrome	Microcornea, Microphthalmia, Cataract	ORPHA:2510
Alpha-Mannosidosis, Infantile Form	Cataract, Facial hypotonia, Corneal opacity, Macroglossia, Myopathy, Astigmatism	ORPHA:309282
Combined Oxidative Phosphorylation Deficiency 11	Myopathy	OMIM:614922
Focal Dermal Hypoplasia	Corneal opacity, Diastasis recti, Congenital diaphragmatic hernia, Ectopia lentis, Camptodactyly ...	ORPHA:2092
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Cataract, Myopathy	OMIM:261740
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t...	ORPHA:263479
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Duane-Radial Ray Syndrome	Cataract, Optic disc hypoplasia, Facial palsy, Small thenar eminence, Pectoralis hypoplasia, Micr...	OMIM:607323
Pseudoachondroplasia	Skeletal myopathy	ORPHA:750
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content, Renal tubular epithelial ne...	ORPHA:228302
Marden-Walker Syndrome	Decreased muscle mass, Congenital contracture, Camptodactyly, Microphthalmia, Joint contracture o...	OMIM:248700
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Scleromyxedema	Myopathy, Abnormal skeletal muscle morphology	ORPHA:167635
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcornea, Microphthalmia, Cataract	OMIM:616449
Paramyotonia Congenita Of Von Eulenburg	Facial muscle hypertrophy, EMG: myopathic abnormalities	ORPHA:684
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Fanconi Anemia, Complementation Group I	Microphthalmia, Astigmatism, Optic nerve hypoplasia	OMIM:609053
Exudative Vitreoretinopathy 6	Nuclear cataract, Cataract, Cortical cataract	OMIM:616468
Cerebrooculofacioskeletal Syndrome 4	Camptodactyly of finger, Bilateral microphthalmos, Elbow flexion contracture, Knee flexion contra...	OMIM:610758
3P25.3 Microdeletion Syndrome	Microphthalmia, Patent ductus arteriosus, Skeletal muscle atrophy, Knee flexion contracture	ORPHA:435638
Oculodentodigital Dysplasia, Autosomal Recessive	Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane	OMIM:257850
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Multiple Benign Circumferential Skin Creases On Limbs	Microcornea, Microphthalmia	ORPHA:2505
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Cataract	OMIM:610651
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti...	OMIM:620278
Lymphedema-Distichiasis Syndrome	Patent ductus arteriosus, Conjunctivitis, Recurrent corneal erosions, Microphthalmia, Corneal ulc...	OMIM:153400
Galloway-Mowat Syndrome 1	Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Camptodactyly, Microphthal...	OMIM:251300
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Stormorken Syndrome	Myopathy	OMIM:185070
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Patent ductus ...	OMIM:206900
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Cataract, Leukocoria	ORPHA:2714
Mosaic Trisomy 1	Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contracture, Opacificatio...	ORPHA:1692
Mycophenolate Mofetil Embryopathy	Microphthalmia, Iris coloboma, Congenital diaphragmatic hernia	ORPHA:268249
Idiopathic Camptocormia	Myositis, Fatty replacement of skeletal muscle, Abnormal muscle fiber dysferlin, Proximal spinal ...	ORPHA:1320
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Cataract, Flexion contracture, Myopathy	ORPHA:3042
Enhanced S-Cone Syndrome	Cataract	OMIM:268100
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Heart And Brain Malformation Syndrome	Microphthalmia, Camptodactyly of finger, Limb hypertonia	OMIM:616920
3Q29 Microdeletion Syndrome	Microphthalmia, Patent ductus arteriosus, Cataract	ORPHA:65286
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Decreased muscle mass, Elbow flexion contracture, Limb muscle weakness, Microcornea, Wrist drop, ...	ORPHA:1900
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology	ORPHA:3068
Carnitine Palmitoyltransferase Ii Deficiency	Myopathy, Rhabdomyolysis, Renal tubular epithelial necrosis	ORPHA:157
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Trisomy 18	Cataract, Camptodactyly of finger, Congenital diaphragmatic hernia, Microcornea, Microphthalmia, ...	ORPHA:3380
Fryns Syndrome	Microphthalmia, Corneal opacity, Congenital diaphragmatic hernia	ORPHA:2059
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Hereditary Xanthinuria	Myopathy	ORPHA:3467
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Skeletal muscle hypertrophy, Myopathy, Proximal upper limb muscle hypertrophy, Muscle hypertrophy...	ORPHA:280365
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Microphthalmia, Cataract, Iris coloboma	ORPHA:2250
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Tetraamelia Syndrome 1	Microphthalmia, Cataract, Congenital diaphragmatic hernia	OMIM:273395
Localized Scleroderma	Skeletal muscle atrophy, Flexion contracture, Myopathy	ORPHA:90289
Abetalipoproteinemia	Myopathy, Keratoconjunctivitis sicca, Corneal ulceration, Distal lower limb muscle weakness	ORPHA:14
Martsolf Syndrome 1	Microphthalmia, Cataract, Developmental cataract	OMIM:212720
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Congenital diaphragmatic hernia	OMIM:612530
Neuromuscular Oculoauditory Syndrome	Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, EMG: myopathic abnormal...	OMIM:618733
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Ectopia pupillae, Corneal opacity, Lens subluxation	ORPHA:85167
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Pectoral muscle hypoplasia/aplasia, Cataract, Camptodactyly of finger	ORPHA:306542
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Skin Creases, Congenital Symmetric Circumferential, 1	Microcornea, Microphthalmia	OMIM:156610
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Cataract, Knee flexion contracture	OMIM:118650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Buphthalmos, Hypoplasia of the retina, Muscular dystrophy, Opacification of the corneal...	OMIM:253280
Pelvis-Shoulder Dysplasia	Microcornea, Camptodactyly of finger, Bilateral microphthalmos, Iris coloboma	ORPHA:2839
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Microphthalmia	OMIM:110100
1Q21.1 Microdeletion Syndrome	Microphthalmia, Patent ductus arteriosus, Cataract, Iris coloboma	ORPHA:250989
Adams-Oliver Syndrome	Microphthalmia, Cataract	ORPHA:974
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ...	OMIM:175780
Premature Aging Syndrome, Penttinen Type	Corneal opacity, Corneal stromal edema, Microphthalmia, Joint contracture, Flexion contracture of...	OMIM:601812
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Sclerocornea	OMIM:300952
Mitochondrial Trifunctional Protein Deficiency	Left ventricular hypertrophy, Skeletal myopathy, Rhabdomyolysis, Lower limb muscle weakness	ORPHA:746
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, EMG: myopathic abnormalities, Elbow flexion contracture, Knee flexion contracture	ORPHA:371364
Congenital Myasthenic Syndrome	Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis multiplex co...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis multiplex co...	ORPHA:98914
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcornea, Microphthalmia, Contracture of the proximal interphalangeal joint of the 3rd finger,...	ORPHA:464738
Congenital Myopathy 17	Diaphragmatic eventration, Distal arthrogryposis, Myopathy	OMIM:618975
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Camptodactyly of 2nd-5th fingers	OMIM:206920
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Ocular albinism	ORPHA:1352
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Mosaic Variegated Aneuploidy Syndrome	Cataract, Corneal opacity, Rhabdomyosarcoma, Muscular dystrophy, Microphthalmia	ORPHA:1052
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Camptodactyly of finger, Iris coloboma	ORPHA:1236
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Myopathy	OMIM:615512
Cousin Syndrome	Microcornea, Camptodactyly, Microphthalmia, Joint contracture of the hand, Wrist flexion contracture	OMIM:260660
Sponastrime Dysplasia	Microcoria, Cataract, Congenital aphakia	ORPHA:93357
Melas	Myopathy, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue	ORPHA:550
Primary Triglyceride Deposit Cardiomyovasculopathy	Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali...	ORPHA:565612
Monosomy 9Q22.3	Microphthalmia, Cataract, Rhabdomyosarcoma	ORPHA:77301
Cardiomyopathy, Familial Hypertrophic, 4	Myopathy	OMIM:115197
Oculopharyngodistal Myopathy 1	Autophagic vacuoles, Facial palsy, Distal amyotrophy, Increased variability in muscle fiber diame...	OMIM:164310
Monosomy 18P	Microphthalmia	ORPHA:1598
Mosaic Trisomy 9	Microphthalmia, Patent ductus arteriosus, Corneal opacity, Camptodactyly of finger	ORPHA:99776
Acquired Generalized Lipodystrophy	Myopathy, Calf muscle pseudohypertrophy	ORPHA:79086
Papillorenal Syndrome	Microphthalmia, Cataract, Lens luxation	OMIM:120330
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Cataract, Flexion contracture, Microcornea, Keratoconjunctivitis sicca, ...	ORPHA:90324
Jacobsen Syndrome	Flexion contracture, Microcornea, Macular hypoplasia, Microphthalmia, Iris coloboma	OMIM:147791
Blau Syndrome	Cataract, Camptodactyly of finger, Band keratopathy, Tendonitis, Iritis, Flexion contracture of toe	OMIM:186580
Frontofacionasal Dysplasia	Microcornea, Microphthalmia, Cataract, Iris coloboma	OMIM:229400
Kyphoscoliotic Ehlers-Danlos Syndrome	Microcornea, Skeletal muscle atrophy, Myopathy	ORPHA:536545
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Cataract	OMIM:302960
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Incontinentia Pigmenti	Cataract, Corneal opacity, Camptodactyly of finger, Keratitis, Microphthalmia	ORPHA:464
Atelis Syndrome 2	Microphthalmia, Patent ductus arteriosus, Developmental cataract	OMIM:620185
Microform Holoprosencephaly	EMG: myopathic abnormalities, Iris coloboma	ORPHA:280200
Hereditary Amyloidosis With Primary Renal Involvement	Myopathy	ORPHA:85450
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Chromosome 13Q33-Q34 Deletion Syndrome	Patent ductus arteriosus, Small thenar eminence, Camptodactyly, Left ventricular hypertrophy, Mic...	OMIM:619148
Oculodentodigital Dysplasia	Microcornea, Microphthalmia, Cataract, Joint contracture of the 5th finger	OMIM:164200
Malignant Hyperthermia Of Anesthesia	Necrotizing myopathy, Exercise-induced rhabdomyolysis, Abnormality of masseter muscle, Acute rhab...	ORPHA:423
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:109
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Joint contracture of the 5th finger	OMIM:620098
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Developmental cataract	OMIM:127000
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
Acro-Renal-Ocular Syndrome	Cataract, Optic disc hypoplasia, Microcornea, Microphthalmia, Iris coloboma	ORPHA:959
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Vacterl With Hydrocephalus	Microcornea, Microphthalmia, Anophthalmia	ORPHA:3412
Mend Syndrome	Microphthalmia, Cataract, Limb hypertonia	ORPHA:401973
Meckel Syndrome	Cataract, Anophthalmia, Sclerocornea, Microcornea, Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:564
Cystinosis, Nephropathic	Skeletal muscle atrophy, Myopathy, Recurrent corneal erosions, Corneal crystals	OMIM:219800
Barth Syndrome	Skeletal myopathy	OMIM:302060
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia	OMIM:259770
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Proboscis Lateralis	Anophthalmia, Cataract, Corneal opacity, Optic nerve hypoplasia, Patent ductus arteriosus, Microc...	ORPHA:141099
Incontinentia Pigmenti	Keratitis, Microphthalmia, Hypoplasia of the fovea, Cataract	OMIM:308300
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Cockayne Syndrome	Skeletal muscle atrophy, Cataract, Band keratopathy, Developmental cataract, Contractures of the ...	ORPHA:191
Rothmund-Thomson Syndrome, Type 2	Microcornea, Microphthalmia, Cataract, Zonular cataract	OMIM:268400
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Corneal opacity	ORPHA:364577
Bartsocas-Papas Syndrome 1	Flexion contracture, Popliteal pterygium, Opacification of the corneal stroma, Microphthalmia, Pt...	OMIM:263650
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Iris coloboma	OMIM:618874
Roberts Syndrome	Cataract, Progressive flexion contractures, Knee flexion contracture, Microphthalmia, Wrist flexi...	ORPHA:3103
Myhre Syndrome	Cataract, Patent ductus arteriosus, Generalized muscle hypertrophy, Skeletal muscle hypertrophy, ...	OMIM:139210
Monosomy 13Q14	Microphthalmia, Cataract, Iris coloboma	ORPHA:1587
2Q31.1 Microdeletion Syndrome	Microphthalmia, Camptodactyly of finger, Iris coloboma	ORPHA:251014
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Trichothiodystrophy	Multiple joint contractures, Bilateral microphthalmos, Developmental cataract, Microcornea, Kerat...	ORPHA:33364
Cat Eye Syndrome	Microphthalmia, Patent ductus arteriosus, Iris coloboma	OMIM:115470
Glycerol Kinase Deficiency	Myopathy, Muscular dystrophy	OMIM:307030
Linear Nevus Sebaceus Syndrome	Microphthalmia, Iris coloboma	ORPHA:2612
Microphthalmia, Syndromic 9	Anophthalmia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Bilateral microphthalmos...	OMIM:601186
Basal Cell Nevus Syndrome 1	Microphthalmia, Cataract, Iris coloboma	OMIM:109400
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia, Megalocornea, Iris coloboma	OMIM:223370
Multiple Endocrine Neoplasia, Type Iib	Myopathy	OMIM:162300
Microphthalmia, Syndromic 2	Anophthalmia, Patent ductus arteriosus, Phthisis bulbi, Flexion contracture, Developmental catara...	OMIM:300166
Polymyositis	Abnormal muscle fiber morphology	ORPHA:732
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Iris atrophy	OMIM:201180
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Corneal opacity, Sclerocornea, Congenital diaphragmatic hernia, Microphthalmia, Pos...	ORPHA:2556
Curry-Jones Syndrome	Microphthalmia, Iris coloboma	OMIM:601707
Cohen Syndrome	Microphthalmia, Iris coloboma	ORPHA:193
Hallermann-Streiff Syndrome	Microphthalmia, Cataract, Iris coloboma	OMIM:234100
1P36 Deletion Syndrome	Cataract, Camptodactyly of finger, Patent ductus arteriosus, Ocular albinism, Myopathy	ORPHA:1606
Joubert Syndrome 14	Microphthalmia	OMIM:614424
Meckel Syndrome, Type 4	Microphthalmia	OMIM:611134
Steinfeld Syndrome	Microphthalmia, Iris coloboma	OMIM:184705
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Myopathy, Patent ductus arteriosus	OMIM:612541
Holoprosencephaly	Microphthalmia, Anophthalmia, Iris coloboma, Congenital diaphragmatic hernia	ORPHA:2162
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Galloway-Mowat Syndrome 3	Microphthalmia, Camptodactyly	OMIM:617729
Wolfram Syndrome	Myopathy	ORPHA:3463
Treacher-Collins Syndrome	Microphthalmia, Patent ductus arteriosus, Cataract, Iris coloboma	ORPHA:861
Fryns Syndrome	Aplasia of the left hemidiaphragm, Opacification of the corneal stroma, Camptodactyly, Microphtha...	OMIM:229850
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Corneal scarring, Developmental cataract, Microphthalmia, Joint contract...	OMIM:309000
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Cataract	OMIM:603457
Cockayne Syndrome B	Developmental cataract, Microcornea, Hypoplasia of the iris, Opacification of the corneal stroma,...	OMIM:133540
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Patent ductus arteriosus, Cataract	OMIM:620005
Williams Syndrome	Flat cornea, Corneal opacity, Cataract, Patent ductus arteriosus, Blue irides, Aplasia/Hypoplasia...	ORPHA:904
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Hallermann-Streiff Syndrome	Microphthalmia, Developmental cataract	ORPHA:2108
Fanconi Anemia, Complementation Group C	Microphthalmia, Flexion contracture	OMIM:227645
Teebi-Shaltout Syndrome	Microphthalmia, Camptodactyly	OMIM:272950
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Microphthalmia, Facial palsy, Iris coloboma	ORPHA:508498
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	EMG: myopathic abnormalities, Acute rhabdomyolysis	ORPHA:480864
Mowat-Wilson Syndrome	Cataract, Patent ductus arteriosus, Generalized muscle hypertrophy, Microcornea, Ectopia pupillae...	OMIM:235730
Fanconi Anemia, Complementation Group F	Microphthalmia, Patent ductus arteriosus	OMIM:603467
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Microphthalmia, Cataract	ORPHA:2526
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Patent ductus arteriosus, Peters anomaly	OMIM:616975
Renpenning Syndrome 1	Joint contracture of the hand, Microphthalmia, Cataract, Camptodactyly	OMIM:309500
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Caribbean Parkinsonism	EMG: myopathic abnormalities	ORPHA:97355
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia, Congenital muscular torticollis	ORPHA:2538
Aicardi Syndrome	Microphthalmia, Cataract	OMIM:304050
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Neurodegeneration With Brain Iron Accumulation 1	Myopathy, Decreased muscle mass	OMIM:234200
Fanconi Anemia	Cataract, Patent ductus arteriosus, Aplasia/Hypoplasia of the iris, Astigmatism, Microphthalmia	ORPHA:84
Focal Dermal Hypoplasia	Anophthalmia, Diastasis recti, Congenital diaphragmatic hernia, Ectopia lentis, Aniridia, Microph...	OMIM:305600
Neu-Laxova Syndrome 1	Cataract, Patent ductus arteriosus, Camptodactyly, Microphthalmia, Pterygium, Joint contracture o...	OMIM:256520
Oculocerebrorenal Syndrome Of Lowe	Cataract, Corneal opacity, Abnormal pupil morphology, Buphthalmos, Lentiglobus, Microphthalmia	ORPHA:534
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Developmental cataract	ORPHA:93325
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Torticollis, Antecubital pterygium, Knee flexion contracture, Popliteal pterygium, Microphthalmia	OMIM:609945
Joubert Syndrome 2	Microphthalmia	OMIM:608091
Choreoacanthocytosis	Muscle fiber atrophy, Myopathy, Distal amyotrophy, Peroneal muscle atrophy	ORPHA:2388
Monosomy 9P	Microphthalmia, Congenital diaphragmatic hernia	ORPHA:261112
Pseudotrisomy 13 Syndrome	Microphthalmia	OMIM:264480
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Cataract, Sutural cataract, Patent ductus arteriosus, Nuclear pulverulent cataract, Camptodactyly...	OMIM:612474
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Iris coloboma	ORPHA:3186
Thyrotoxic Periodic Paralysis	Rhabdomyolysis, Lower limb muscle weakness, Increased intramyocellular lipid droplets, Abnormal m...	ORPHA:79102
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Facial palsy, Iris coloboma, Right ventricular hypertrophy	OMIM:620186
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Corneal opacity	OMIM:608670
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Patent ductus arteriosus	OMIM:616300
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
22Q11.2 Deletion Syndrome	Cataract, Patent ductus arteriosus, Microphthalmia, Posterior embryotoxon, Corneal neovasculariza...	ORPHA:567
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Skin Creases, Congenital Symmetric Circumferential, 2	Microcornea, Microphthalmia	OMIM:616734
Proteus Syndrome	Central heterochromia, Cataract, Decreased muscle mass, Buphthalmos, Myofibrillar myopathy	ORPHA:744
Pallister-Hall Syndrome	Microphthalmia, Patent ductus arteriosus	OMIM:146510
Meckel Syndrome, Type 1	Microphthalmia, Patent ductus arteriosus, Camptodactyly of finger, Iris coloboma	OMIM:249000
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos, Iris coloboma	OMIM:610828
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Glycogen Storage Disease Due To Acid Maltase Deficiency	Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Flexion contracture, Macroglos...	ORPHA:365
Charge Syndrome	Anophthalmia, Facial palsy, Patent ductus arteriosus, Microphthalmia, Iris coloboma	ORPHA:138
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Multiple joint contractures, Optic nerve hypoplasia, Ankle flexion contracture, Camptodactyly of ...	ORPHA:468631
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Iris coloboma	OMIM:613884
Yunis-Varon Syndrome	Microphthalmia, Cataract, Bilateral microphthalmos, Sclerocornea	ORPHA:3472
Microphthalmia With Limb Anomalies	Microphthalmia, Camptodactyly of 2nd-5th fingers, True anophthalmia	ORPHA:1106
Fanconi Anemia, Complementation Group D2	Microphthalmia, Patent ductus arteriosus	OMIM:227646
Witteveen-Kolk Syndrome	Cataract, Congenital diaphragmatic hernia, Contracture of the distal interphalangeal joint of the...	OMIM:613406
Roberts-Sc Phocomelia Syndrome	Cataract, Corneal opacity, Ankle flexion contracture, Patent ductus arteriosus, Elbow flexion con...	OMIM:268300
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Branchiooculofacial Syndrome	Anophthalmia, Cataract, Facial palsy, Elbow flexion contracture, Microphthalmia, Iris coloboma	OMIM:113620
Charge Syndrome	Anophthalmia, Cataract, Facial palsy, Patent ductus arteriosus, Unilateral microphthalmos, Microp...	OMIM:214800
Fontaine Progeroid Syndrome	Left ventricular hypertrophy, Microphthalmia, Hypoplasia of the abdominal wall musculature, Paten...	OMIM:612289
Fanconi Anemia, Complementation Group L	Microphthalmia	OMIM:614083
Degcags Syndrome	Patent ductus arteriosus, Microphthalmia, Diaphragmatic eventration	OMIM:619488
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Dermatomyositis	Inflammatory myopathy	ORPHA:221
Microphthalmia, Syndromic 6	Microcornea, Microphthalmia, Anophthalmia, Sclerocornea	OMIM:607932
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia	ORPHA:2166
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Aicardi Syndrome	Microphthalmia	ORPHA:50
Townes-Brocks Syndrome	Cataract, Patent ductus arteriosus, Limbal dermoid, Microphthalmia, Iris coloboma	ORPHA:857
Hydrolethalus Syndrome 1	Microphthalmia, Agenesis of the diaphragm	OMIM:236680
Fraser Syndrome 1	Anophthalmia, Corneal opacity, Bilateral microphthalmos	OMIM:219000
Microphthalmia, Syndromic 1	Anophthalmia, Microcornea, Ciliary body coloboma, Camptodactyly, Microphthalmia, Joint contractur...	OMIM:309800
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Iris atrophy, Cataract, Abnormal pupil morphology, Flexion contracture, Patent ductus arteriosus,...	ORPHA:261552
Holoprosencephaly 2	Microphthalmia, Iris coloboma	OMIM:157170
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cataract, Flexion contracture, Astigmatism, Axenfeld anomaly, Camptodactyly, Microphthalmia, Iris...	ORPHA:261537
Mowat-Wilson Syndrome	Cataract, Patent ductus arteriosus, Flexion contracture, Astigmatism, Axenfeld anomaly, Camptodac...	ORPHA:2152
Craniofacial Microsomia 1	Anophthalmia, Hypoplasia of facial musculature, Patent ductus arteriosus, Limbal dermoid, Microph...	OMIM:164210
Adams-Oliver Syndrome 1	Microphthalmia	OMIM:100300
Pallister-Hall Syndrome	Microphthalmia, Patent ductus arteriosus, Distal arthrogryposis	ORPHA:672
Fraser Syndrome	Microphthalmia, Anophthalmia	ORPHA:2052
8Q24.3 Microdeletion Syndrome	Patent ductus arteriosus, Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:508488
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Muscular dystrophy	OMIM:613869

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 Cryab

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 Cryab.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Cryab^{tm1a(EUCOMM)Hmgu}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Cryab^{tm1a(EUCOMM)Hmgu}	PMC6671969

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

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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