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 |
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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 |
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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 |
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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 |
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Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology |
OMIM:175700 |
Kapur-Toriello Syndrome |
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Microphthalmia, Patent ductus arteriosus, Iris coloboma |
ORPHA:2328 |
Congenital Myopathy 9A |
|
EMG: myopathic abnormalities |
OMIM:618822 |
Vici Syndrome |
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Cataract, Ocular albinism, Developmental cataract, Myopathy, Macular hypoplasia, Left ventricular... |
OMIM:242840 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
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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 |
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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 |
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Decreased muscle mass, Decreased muscle glycogen content, Upper limb muscle weakness, Shoulder gi... |
ORPHA:263297 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
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Microphthalmia, Astigmatism, Cataract |
OMIM:618571 |
Alport Syndrome 2, Autosomal Recessive |
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Corneal erosion, Cataract, Anterior lenticonus |
OMIM:203780 |
Baraitser-Winter Syndrome 1 |
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Microphthalmia, Patent ductus arteriosus, Iris coloboma |
OMIM:243310 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
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Proximal muscle weakness in upper limbs, Cataract, Lower limb muscle weakness, Distal lower limb ... |
ORPHA:363623 |
Developmental And Epileptic Encephalopathy 1 |
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Microphthalmia |
OMIM:308350 |
Glycogen Storage Disease Xii |
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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 |
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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 |
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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 |
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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 |
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Microphthalmia, Anophthalmia |
ORPHA:2717 |
Cockayne Syndrome |
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Skeletal muscle atrophy, Cataract, Band keratopathy, Developmental cataract, Contractures of the ... |
ORPHA:191 |
Rothmund-Thomson Syndrome, Type 2 |
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Microcornea, Microphthalmia, Cataract, Zonular cataract |
OMIM:268400 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
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Microphthalmia, Corneal opacity |
ORPHA:364577 |
Bartsocas-Papas Syndrome 1 |
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Flexion contracture, Popliteal pterygium, Opacification of the corneal stroma, Microphthalmia, Pt... |
OMIM:263650 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
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Unilateral microphthalmos, Iris coloboma |
OMIM:618874 |
Roberts Syndrome |
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Cataract, Progressive flexion contractures, Knee flexion contracture, Microphthalmia, Wrist flexi... |
ORPHA:3103 |
Myhre Syndrome |
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Cataract, Patent ductus arteriosus, Generalized muscle hypertrophy, Skeletal muscle hypertrophy, ... |
OMIM:139210 |
Monosomy 13Q14 |
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Microphthalmia, Cataract, Iris coloboma |
ORPHA:1587 |
2Q31.1 Microdeletion Syndrome |
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Microphthalmia, Camptodactyly of finger, Iris coloboma |
ORPHA:251014 |
Meckel Syndrome, Type 2 |
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Microphthalmia |
OMIM:603194 |
Trichothiodystrophy |
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Multiple joint contractures, Bilateral microphthalmos, Developmental cataract, Microcornea, Kerat... |
ORPHA:33364 |
Cat Eye Syndrome |
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Microphthalmia, Patent ductus arteriosus, Iris coloboma |
OMIM:115470 |
Glycerol Kinase Deficiency |
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Myopathy, Muscular dystrophy |
OMIM:307030 |
Linear Nevus Sebaceus Syndrome |
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Microphthalmia, Iris coloboma |
ORPHA:2612 |
Microphthalmia, Syndromic 9 |
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Anophthalmia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Bilateral microphthalmos... |
OMIM:601186 |
Basal Cell Nevus Syndrome 1 |
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Microphthalmia, Cataract, Iris coloboma |
OMIM:109400 |
Dubowitz Syndrome |
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Hypoplasia of the iris, Microphthalmia, Megalocornea, Iris coloboma |
OMIM:223370 |
Multiple Endocrine Neoplasia, Type Iib |
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Myopathy |
OMIM:162300 |
Microphthalmia, Syndromic 2 |
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Anophthalmia, Patent ductus arteriosus, Phthisis bulbi, Flexion contracture, Developmental catara... |
OMIM:300166 |
Polymyositis |
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Abnormal muscle fiber morphology |
ORPHA:732 |
Acrofrontofacionasal Dysostosis 1 |
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Microphthalmia, Iris atrophy |
OMIM:201180 |
Fanconi Anemia, Complementation Group R |
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Microphthalmia |
OMIM:617244 |
Microphthalmia With Linear Skin Defects Syndrome |
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Anophthalmia, Corneal opacity, Sclerocornea, Congenital diaphragmatic hernia, Microphthalmia, Pos... |
ORPHA:2556 |
Curry-Jones Syndrome |
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Microphthalmia, Iris coloboma |
OMIM:601707 |
Cohen Syndrome |
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Microphthalmia, Iris coloboma |
ORPHA:193 |
Hallermann-Streiff Syndrome |
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Microphthalmia, Cataract, Iris coloboma |
OMIM:234100 |
1P36 Deletion Syndrome |
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Cataract, Camptodactyly of finger, Patent ductus arteriosus, Ocular albinism, Myopathy |
ORPHA:1606 |
Joubert Syndrome 14 |
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Microphthalmia |
OMIM:614424 |
Meckel Syndrome, Type 4 |
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Microphthalmia |
OMIM:611134 |
Steinfeld Syndrome |
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Microphthalmia, Iris coloboma |
OMIM:184705 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Myopathy, Patent ductus arteriosus |
OMIM:612541 |
Holoprosencephaly |
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Microphthalmia, Anophthalmia, Iris coloboma, Congenital diaphragmatic hernia |
ORPHA:2162 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Microphthalmia |
OMIM:241410 |
Manitoba Oculotrichoanal Syndrome |
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Microphthalmia, Anophthalmia |
OMIM:248450 |
Galloway-Mowat Syndrome 3 |
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Microphthalmia, Camptodactyly |
OMIM:617729 |
Wolfram Syndrome |
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Myopathy |
ORPHA:3463 |
Treacher-Collins Syndrome |
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Microphthalmia, Patent ductus arteriosus, Cataract, Iris coloboma |
ORPHA:861 |
Fryns Syndrome |
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Aplasia of the left hemidiaphragm, Opacification of the corneal stroma, Camptodactyly, Microphtha... |
OMIM:229850 |
Lowe Oculocerebrorenal Syndrome |
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Camptodactyly of finger, Corneal scarring, Developmental cataract, Microphthalmia, Joint contract... |
OMIM:309000 |
Ritscher-Schinzel Syndrome 3 |
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Microphthalmia |
OMIM:619135 |
Bosma Arhinia Microphthalmia Syndrome |
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Microphthalmia, Cataract |
OMIM:603457 |
Cockayne Syndrome B |
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Developmental cataract, Microcornea, Hypoplasia of the iris, Opacification of the corneal stroma,... |
OMIM:133540 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Microphthalmia, Patent ductus arteriosus, Cataract |
OMIM:620005 |
Williams Syndrome |
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Flat cornea, Corneal opacity, Cataract, Patent ductus arteriosus, Blue irides, Aplasia/Hypoplasia... |
ORPHA:904 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
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Microphthalmia |
ORPHA:2728 |
Hallermann-Streiff Syndrome |
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Microphthalmia, Developmental cataract |
ORPHA:2108 |
Fanconi Anemia, Complementation Group C |
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Microphthalmia, Flexion contracture |
OMIM:227645 |
Teebi-Shaltout Syndrome |
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Microphthalmia, Camptodactyly |
OMIM:272950 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Optic nerve hypoplasia, Microphthalmia, Facial palsy, Iris coloboma |
ORPHA:508498 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
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EMG: myopathic abnormalities, Acute rhabdomyolysis |
ORPHA:480864 |
Mowat-Wilson Syndrome |
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Cataract, Patent ductus arteriosus, Generalized muscle hypertrophy, Microcornea, Ectopia pupillae... |
OMIM:235730 |
Fanconi Anemia, Complementation Group F |
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Microphthalmia, Patent ductus arteriosus |
OMIM:603467 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Anophthalmia, Microphthalmia, Cataract |
ORPHA:2526 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Microphthalmia, Patent ductus arteriosus, Peters anomaly |
OMIM:616975 |
Renpenning Syndrome 1 |
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Joint contracture of the hand, Microphthalmia, Cataract, Camptodactyly |
OMIM:309500 |
Frontonasal Dysplasia 2 |
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Microphthalmia |
OMIM:613451 |
Caribbean Parkinsonism |
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EMG: myopathic abnormalities |
ORPHA:97355 |
Microgastria-Limb Reduction Defect Syndrome |
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Microphthalmia, Anophthalmia, Congenital muscular torticollis |
ORPHA:2538 |
Aicardi Syndrome |
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Microphthalmia, Cataract |
OMIM:304050 |
Microcephaly-Micromelia Syndrome |
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Microphthalmia |
OMIM:251230 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Myopathy, Decreased muscle mass |
OMIM:234200 |
Fanconi Anemia |
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Cataract, Patent ductus arteriosus, Aplasia/Hypoplasia of the iris, Astigmatism, Microphthalmia |
ORPHA:84 |
Focal Dermal Hypoplasia |
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Anophthalmia, Diastasis recti, Congenital diaphragmatic hernia, Ectopia lentis, Aniridia, Microph... |
OMIM:305600 |
Neu-Laxova Syndrome 1 |
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Cataract, Patent ductus arteriosus, Camptodactyly, Microphthalmia, Pterygium, Joint contracture o... |
OMIM:256520 |
Oculocerebrorenal Syndrome Of Lowe |
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Cataract, Corneal opacity, Abnormal pupil morphology, Buphthalmos, Lentiglobus, Microphthalmia |
ORPHA:534 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Bilateral microphthalmos, Developmental cataract |
ORPHA:93325 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Torticollis, Antecubital pterygium, Knee flexion contracture, Popliteal pterygium, Microphthalmia |
OMIM:609945 |
Joubert Syndrome 2 |
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Microphthalmia |
OMIM:608091 |
Choreoacanthocytosis |
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Muscle fiber atrophy, Myopathy, Distal amyotrophy, Peroneal muscle atrophy |
ORPHA:2388 |
Monosomy 9P |
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Microphthalmia, Congenital diaphragmatic hernia |
ORPHA:261112 |
Pseudotrisomy 13 Syndrome |
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Microphthalmia |
OMIM:264480 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Cataract, Sutural cataract, Patent ductus arteriosus, Nuclear pulverulent cataract, Camptodactyly... |
OMIM:612474 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Microphthalmia, Iris coloboma |
ORPHA:3186 |
Thyrotoxic Periodic Paralysis |
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Rhabdomyolysis, Lower limb muscle weakness, Increased intramyocellular lipid droplets, Abnormal m... |
ORPHA:79102 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Microphthalmia, Facial palsy, Iris coloboma, Right ventricular hypertrophy |
OMIM:620186 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Microphthalmia, Corneal opacity |
OMIM:608670 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Microphthalmia, Patent ductus arteriosus |
OMIM:616300 |
Ohdo Syndrome, X-Linked |
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Microphthalmia |
OMIM:300895 |
22Q11.2 Deletion Syndrome |
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Cataract, Patent ductus arteriosus, Microphthalmia, Posterior embryotoxon, Corneal neovasculariza... |
ORPHA:567 |
Meckel Syndrome 14 |
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Microphthalmia |
OMIM:619879 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
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Microcornea, Microphthalmia |
OMIM:616734 |
Proteus Syndrome |
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Central heterochromia, Cataract, Decreased muscle mass, Buphthalmos, Myofibrillar myopathy |
ORPHA:744 |
Pallister-Hall Syndrome |
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Microphthalmia, Patent ductus arteriosus |
OMIM:146510 |
Meckel Syndrome, Type 1 |
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Microphthalmia, Patent ductus arteriosus, Camptodactyly of finger, Iris coloboma |
OMIM:249000 |
Holoprosencephaly 7 |
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Microphthalmia, Bilateral microphthalmos, Iris coloboma |
OMIM:610828 |
Momo Syndrome |
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Bilateral microphthalmos |
ORPHA:2563 |
Fanconi Anemia, Complementation Group E |
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Microphthalmia |
OMIM:600901 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Flexion contracture, Macroglos... |
ORPHA:365 |
Charge Syndrome |
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Anophthalmia, Facial palsy, Patent ductus arteriosus, Microphthalmia, Iris coloboma |
ORPHA:138 |
Fanconi Anemia, Complementation Group A |
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Microphthalmia |
OMIM:227650 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Multiple joint contractures, Optic nerve hypoplasia, Ankle flexion contracture, Camptodactyly of ... |
ORPHA:468631 |
Chromosome 13Q14 Deletion Syndrome |
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Microphthalmia, Iris coloboma |
OMIM:613884 |
Yunis-Varon Syndrome |
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Microphthalmia, Cataract, Bilateral microphthalmos, Sclerocornea |
ORPHA:3472 |
Microphthalmia With Limb Anomalies |
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Microphthalmia, Camptodactyly of 2nd-5th fingers, True anophthalmia |
ORPHA:1106 |
Fanconi Anemia, Complementation Group D2 |
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Microphthalmia, Patent ductus arteriosus |
OMIM:227646 |
Witteveen-Kolk Syndrome |
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Cataract, Congenital diaphragmatic hernia, Contracture of the distal interphalangeal joint of the... |
OMIM:613406 |
Roberts-Sc Phocomelia Syndrome |
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Cataract, Corneal opacity, Ankle flexion contracture, Patent ductus arteriosus, Elbow flexion con... |
OMIM:268300 |
Isolated Arrhinia |
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Microphthalmia |
ORPHA:1134 |
Branchiooculofacial Syndrome |
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Anophthalmia, Cataract, Facial palsy, Elbow flexion contracture, Microphthalmia, Iris coloboma |
OMIM:113620 |
Charge Syndrome |
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Anophthalmia, Cataract, Facial palsy, Patent ductus arteriosus, Unilateral microphthalmos, Microp... |
OMIM:214800 |
Fontaine Progeroid Syndrome |
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Left ventricular hypertrophy, Microphthalmia, Hypoplasia of the abdominal wall musculature, Paten... |
OMIM:612289 |
Fanconi Anemia, Complementation Group L |
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Microphthalmia |
OMIM:614083 |
Degcags Syndrome |
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Patent ductus arteriosus, Microphthalmia, Diaphragmatic eventration |
OMIM:619488 |
Holoprosencephaly 9 |
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Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Fraser Syndrome 2 |
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Microphthalmia |
OMIM:617666 |
Dermatomyositis |
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Inflammatory myopathy |
ORPHA:221 |
Microphthalmia, Syndromic 6 |
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Microcornea, Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:607932 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
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Microphthalmia |
ORPHA:2166 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Microphthalmia |
OMIM:617925 |
Aicardi Syndrome |
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Microphthalmia |
ORPHA:50 |
Townes-Brocks Syndrome |
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Cataract, Patent ductus arteriosus, Limbal dermoid, Microphthalmia, Iris coloboma |
ORPHA:857 |
Hydrolethalus Syndrome 1 |
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Microphthalmia, Agenesis of the diaphragm |
OMIM:236680 |
Fraser Syndrome 1 |
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Anophthalmia, Corneal opacity, Bilateral microphthalmos |
OMIM:219000 |
Microphthalmia, Syndromic 1 |
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Anophthalmia, Microcornea, Ciliary body coloboma, Camptodactyly, Microphthalmia, Joint contractur... |
OMIM:309800 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Iris atrophy, Cataract, Abnormal pupil morphology, Flexion contracture, Patent ductus arteriosus,... |
ORPHA:261552 |
Holoprosencephaly 2 |
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Microphthalmia, Iris coloboma |
OMIM:157170 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Cataract, Flexion contracture, Astigmatism, Axenfeld anomaly, Camptodactyly, Microphthalmia, Iris... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
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Cataract, Patent ductus arteriosus, Flexion contracture, Astigmatism, Axenfeld anomaly, Camptodac... |
ORPHA:2152 |
Craniofacial Microsomia 1 |
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Anophthalmia, Hypoplasia of facial musculature, Patent ductus arteriosus, Limbal dermoid, Microph... |
OMIM:164210 |
Adams-Oliver Syndrome 1 |
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Microphthalmia |
OMIM:100300 |
Pallister-Hall Syndrome |
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Microphthalmia, Patent ductus arteriosus, Distal arthrogryposis |
ORPHA:672 |
Fraser Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2052 |
8Q24.3 Microdeletion Syndrome |
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Patent ductus arteriosus, Bilateral microphthalmos, Optic nerve hypoplasia |
ORPHA:508488 |
Holoprosencephaly 1 |
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Microphthalmia |
OMIM:236100 |
Treacher Collins Syndrome 1 |
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Bilateral microphthalmos |
OMIM:154500 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
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Muscular dystrophy |
OMIM:613869 |