| Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m... |
OMIM:617030 |
| Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... |
ORPHA:2593 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... |
OMIM:615424 |
| Tibial Muscular Dystrophy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
ORPHA:609 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... |
OMIM:609115 |
| Carnitine Deficiency, Myopathic |
|
Reduced muscle carnitine level, Myopathy |
OMIM:212160 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Myopathy, Myofibrillar, 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... |
OMIM:609200 |
| Myopathy, Sarcoplasmic Body |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620286 |
| Distal Myopathy, Welander Type |
|
Rimmed vacuoles, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Myopathy, Intrinsic han... |
ORPHA:603 |
| Nonaka Myopathy |
|
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... |
OMIM:605820 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... |
ORPHA:611 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... |
OMIM:608423 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy |
OMIM:618992 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Spinal Muscular Atrophy, Type Iv |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:271150 |
| Myopathy, Distal, Tateyama Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... |
OMIM:614321 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... |
OMIM:617158 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:619733 |
| Polyglucosan Body Myopathy 2 |
|
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... |
OMIM:616199 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:301075 |
| Nemaline Myopathy 6 |
|
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Facial palsy |
OMIM:609273 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:618129 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:254110 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy |
OMIM:609500 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Exercise intolerance, Proximal muscle weakness in upper ... |
ORPHA:457050 |
| Acro-Renal-Mandibular Syndrome |
|
Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Congenital ... |
ORPHA:958 |
| Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... |
OMIM:601846 |
| Fibrochondrogenesis 1 |
|
Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Nar... |
OMIM:228520 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:617760 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Arthrogryposis multiplex congenita, Congenital contracture, Myopathy, Skeletal muscle atrophy |
OMIM:208100 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Thin ribs, Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Flattened epiphy... |
OMIM:300232 |
| 3M Syndrome |
|
Thin ribs, Short neck, Everted lower lip vermilion, Hypoplastic ischia, Abnormality of the elbow,... |
ORPHA:2616 |
| Multiple Pterygium Syndrome, X-Linked |
|
Thin ribs, Joint dislocation, Edema, Cleft upper lip, Short finger, Amyoplasia, Intrauterine grow... |
OMIM:312150 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:612999 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
| Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
| Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... |
OMIM:608358 |
| Three M Syndrome 1 |
|
Short neck, Hip dislocation, Short 5th finger, Joint dislocation, Delayed skeletal maturation, In... |
OMIM:273750 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:620235 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting |
OMIM:609524 |
| Myopathy, Centronuclear, 1 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl... |
OMIM:160150 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:619178 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... |
OMIM:618823 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... |
ORPHA:178464 |
| Dysosteosclerosis |
|
Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Increased interverte... |
OMIM:224300 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:117000 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Thin ribs, Joint dislocation, Edema, Short finger, Amyoplasia, Intrauterine growth retardation, M... |
OMIM:253290 |
| Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Abnormal shoulder morphology, Abnormal cranial nerve morphol... |
ORPHA:2345 |
| Three M Syndrome 2 |
|
Thin ribs, Clinodactyly, Short neck, High palate, Short 5th finger, Pectus carinatum, Delayed ske... |
OMIM:612921 |
| Congenital Myopathy 22B, Severe Fetal |
|
Thin ribs, Hypoplasia of the musculature, Micrognathia, Limb muscle weakness, Hip contracture, Sh... |
OMIM:620369 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... |
OMIM:158600 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,... |
OMIM:269250 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... |
OMIM:223800 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Carious teeth, Open bite, Micrognathia, Genu valgum, Decreased skull ossifi... |
ORPHA:1452 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy |
OMIM:212130 |
| Myopathy, Distal, 4 |
|
Skeletal muscle atrophy, Thenar muscle weakness, Distal lower limb amyotrophy, Distal upper limb ... |
OMIM:614065 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, C... |
OMIM:613530 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Thin ribs, Plagiocephaly, Retrognathia, Slender long bone, Trigonocephaly, Micrognathia, Decrease... |
OMIM:618265 |
| Myopathy, Scapulohumeroperoneal |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:616852 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy, Slender long bone, Limitation of joint mobility, Abnormal form of the ve... |
ORPHA:1486 |
| Gne Myopathy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... |
ORPHA:602 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... |
OMIM:618655 |
| Ulnar Hemimelia |
|
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... |
ORPHA:93320 |
| Oculopharyngeal Muscular Dystrophy |
|
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Abnormal muscle fiber morphology |
ORPHA:270 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Nemaline bodies, Long philtrum, Micrognathia, Acetabular dysplasia, Myopathy, Thin upper lip verm... |
OMIM:616549 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Frontometaphyseal Dysplasia 1 |
|
Hypoplasia of the musculature, Broad phalanges of the hand, Partial fusion of carpals, Carpal syn... |
OMIM:305620 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Delayed ossification of pubic rami, Lumbar h... |
OMIM:602471 |
| Myasthenic Syndrome, Congenital, 14 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:616228 |
| Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Scapulohumeral muscular dystrophy, Myopathy |
OMIM:160570 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
| Congenital Myopathy 18 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatty... |
OMIM:620246 |
| Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance |
OMIM:614807 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... |
OMIM:615422 |
| Stuve-Wiedemann Syndrome 1 |
|
Thin ribs, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal rarefaction, Bowing... |
OMIM:601559 |
| Osteogenesis Imperfecta, Type Iii |
|
Thin ribs, Dentinogenesis imperfecta, Scoliosis, Kyphosis, Slender long bone, Micrognathia, Recur... |
OMIM:259420 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Thin ribs, Joint contracture of the hand, Genu valgum, Micrognathia, Arachnodactyly, Talipes equi... |
OMIM:182212 |
| Kagami-Ogata Syndrome |
|
Thin ribs, Hypoplasia of the maxilla, Retrognathia, Long philtrum, Micrognathia, Diastasis recti,... |
OMIM:608149 |
| Bethlem Myopathy 1A |
|
Ankle flexion contracture, Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contra... |
OMIM:158810 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... |
ORPHA:34516 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs |
ORPHA:1878 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Thin ribs, Osteopenia, Thin metacarpal cortices, Thin metatarsal cortices, Hypoplasia of the musc... |
ORPHA:2463 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Micromelia, Generalized dystonia, Death in early adulthood, Orofacial cleft... |
ORPHA:79107 |
| Platyspondylic Dysplasia, Torrance Type |
|
Platyspondyly, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Narrow ... |
ORPHA:85166 |
| Acrorenal-Mandibular Syndrome |
|
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula... |
OMIM:200980 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Slender long bone, Flared metaphysis, Camptodactyly of finger, Elbow flexion contracture, Abnorma... |
OMIM:610758 |
| Tibial Muscular Dystrophy, Tardive |
|
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ... |
OMIM:600334 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Malar prominence, Abnormal hip bone morphology, Micrognathia, Abnor... |
ORPHA:2522 |
| Mucolipidosis Ii Alpha/Beta |
|
Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o... |
OMIM:252500 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:611705 |
| Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy |
OMIM:606768 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma... |
ORPHA:485 |
| Cole-Carpenter Syndrome 2 |
|
Thin ribs, Dentinogenesis imperfecta, Lambdoidal craniosynostosis, Microretrognathia, Coronal cra... |
OMIM:616294 |
| Scarf Syndrome |
|
Pectus carinatum, Abnormal form of the vertebral bodies, Long philtrum, Umbilical hernia, Diastas... |
ORPHA:3134 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Intercrural pterygium, Micrognathia, Narrow mouth, Patellar aplasia, Congenital diaphragmatic her... |
OMIM:265000 |
| Catel-Manzke Syndrome |
|
Scoliosis, Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Joint stiffness... |
ORPHA:1388 |
| Oculopharyngodistal Myopathy 2 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... |
OMIM:618940 |
| Meier-Gorlin Syndrome 1 |
|
Thin ribs, Small hand, Joint contracture of the hand, Elbow dislocation, Cutaneous finger syndact... |
OMIM:224690 |
| Smith-Mccort Dysplasia 1 |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg... |
OMIM:607326 |
| Acetyl-Coa Carboxylase-Alpha Deficiency |
|
Myopathy |
OMIM:613933 |
| Severe Congenital Nemaline Myopathy |
|
Thin ribs, Nemaline bodies, Skeletal muscle atrophy, Abnormal thorax morphology, Facial diplegia,... |
ORPHA:171430 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Micrognathia, Genu valgum, Talipes equino... |
OMIM:271640 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... |
OMIM:181400 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Thin ribs, Centrally nucleated skeletal muscle fibers, Retrognathia, Myopathy, Joint hypermobilit... |
OMIM:300219 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Narrow chest, Plagiocephaly, Micromelia, Abnormal diaphysis morphology, Cam... |
ORPHA:2021 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... |
ORPHA:96334 |
| Achondrogenesis, Type Ia |
|
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe... |
OMIM:200600 |
| Cousin Syndrome |
|
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Mic... |
OMIM:260660 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Fatty re... |
OMIM:618848 |
| Premature Aging Syndrome, Penttinen Type |
|
Thin ribs, Delayed cranial suture closure, Micrognathia, Flexion contracture of finger, Short foo... |
OMIM:601812 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
ORPHA:86812 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calc... |
ORPHA:163966 |
| Van Den Ende-Gupta Syndrome |
|
Thin ribs, Long metacarpals, Hypoplastic scapulae, Joint contracture of the hand, Long hallux, Mi... |
OMIM:600920 |
| Cleidocranial Dysplasia 1 |
|
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... |
OMIM:119600 |
| Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Merrf |
|
Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
| Anauxetic Dysplasia 3 |
|
Broad middle phalanx of finger, Genu valgum, Beaking of vertebral bodies, Thoracolumbar kyphoscol... |
OMIM:618853 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Micromelia, Flar... |
OMIM:187601 |
| Atelosteogenesis, Type I |
|
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax, Neonatal dea... |
OMIM:108720 |
| Campomelic Dysplasia |
|
Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv... |
OMIM:114290 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic i... |
OMIM:151210 |
| Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Retrognathia, 11 pairs of ribs, Micrognathia, Polyhydramnios, Prenatal d... |
OMIM:618393 |
| Mitochondrial Myopathy With Diabetes |
|
Weakness of orbicularis oculi muscle, Limb muscle weakness, Ragged-red muscle fibers, Proximal am... |
OMIM:500002 |
| Ullrich Congenital Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Micrognathia, Short neck, Torticollis, Hip disloc... |
ORPHA:75840 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,... |
ORPHA:73230 |
| Hallermann-Streiff Syndrome |
|
Thin ribs, Natal tooth, Dry skin, Micrognathia, Narrow mouth, Everted lower lip vermilion, High p... |
OMIM:234100 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... |
ORPHA:266 |
| Scarf Syndrome |
|
Lambdoidal craniosynostosis, Pectus carinatum, Coronal craniosynostosis, Abnormal form of the ver... |
OMIM:312830 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:617072 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... |
OMIM:620375 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Copper beaten skull, Long philtrum, Thick lower lip vermilion, Lumbar hyperlordosis, Inguinal her... |
OMIM:619451 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy |
ORPHA:2579 |
| Turnpenny-Fry Syndrome |
|
Small hand, Clinodactyly, Overlapping toe, Narrow mouth, Torticollis, High palate, Thoracic kypho... |
OMIM:618371 |
| Thanatophoric Dysplasia, Type I |
|
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Thoracic hypopla... |
OMIM:187600 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the dentition, Pectus carinatum, Finger syndactyly, Delayed skeletal maturation, R... |
ORPHA:3268 |
| Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... |
OMIM:605355 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... |
OMIM:620386 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Narrow chest, Rhizomelia, Micromelia, Micrognathia, Femoral bowing, Dumbbel... |
ORPHA:440354 |
| Pelviscapular Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac... |
ORPHA:93333 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th... |
ORPHA:457395 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Enlarged metaphyses, Micrognathia, Genu valgum, Narrow mouth, Congenital diaphragmatic hernia, Ra... |
OMIM:245600 |
| Tarp Syndrome |
|
Optic atrophy, Meckel diverticulum, Clinodactyly, Athetosis, Intrauterine growth retardation, Mic... |
OMIM:311900 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervicomedullary schisis, Congenital muscular torticollis, Cervical C2/C3 vertebral fusion, Short... |
OMIM:118100 |
| Craniofrontonasal Dysplasia |
|
Finger syndactyly, Congenital diaphragmatic hernia, Sprengel anomaly, High palate, Plagiocephaly,... |
ORPHA:1520 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... |
ORPHA:370010 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Joint hypermobility, Abnormal rib morpholo... |
OMIM:602196 |
| Garg-Mishra Progeroid Syndrome |
|
Thin ribs, Platyspondyly, Narrow chest, Dental crowding, Slender long bone, Persistent open anter... |
OMIM:620601 |
| Autosomal Dominant Centronuclear Myopathy |
|
Thin ribs, Proximal muscle weakness in lower limbs, Centrally nucleated skeletal muscle fibers, P... |
ORPHA:169189 |
| Mitochondrial Myopathy, Lethal, Infantile |
|
Myopathy |
OMIM:551000 |
| Myopathic Ehlers-Danlos Syndrome |
|
Increased variability in muscle fiber diameter, Joint contracture of the hand, Decreased muscle m... |
ORPHA:536516 |
| Osteogenesis Imperfecta, Type X |
|
Thin ribs, Genu valgum, Micrognathia, Fibular bowing, Death in childhood, Bowing of the long bone... |
OMIM:613848 |
| Myopathy, Tubular Aggregate, 1 |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn... |
OMIM:160565 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones, High palate, Flat acetabu... |
OMIM:614091 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Long clavicles, Con... |
OMIM:210720 |
| Weaver Syndrome |
|
Broad thumb, Finger syndactyly, Retrognathia, Camptodactyly of finger, Sandal gap, Long philtrum,... |
ORPHA:3447 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... |
OMIM:601954 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
| Marshall-Smith Syndrome |
|
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Irregular dentition, Death in child... |
OMIM:602535 |
| Cornelia De Lange Syndrome 1 |
|
Micrognathia, Congenital diaphragmatic hernia, Short neck, High palate, Dislocated radial head, H... |
OMIM:122470 |
| Multiple Synostoses Syndrome 1 |
|
Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndactyly, Proximal/middle sympha... |
OMIM:186500 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... |
OMIM:616313 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Small hand, Toe syndactyly, Micrognathia, High palate, Short foot, Short metacarpal, Hypoplasia o... |
OMIM:170390 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:617066 |
| Bethlem Myopathy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Scapular winging, Myopathy |
OMIM:616471 |
| Orofaciodigital Syndrome Iii |
|
Bifid uvula, Postaxial foot polydactyly, Kyphosis, Microdontia, Short sternum, Postaxial hand pol... |
OMIM:258850 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormal vertebral morphology, Subluxation of the small joints of the hand, Micrognathia, Dysplas... |
ORPHA:536471 |
| Zebra Body Myopathy |
|
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo... |
ORPHA:97240 |
| Klhl9-Related Early-Onset Distal Myopathy |
|
Ankle flexion contracture, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles,... |
ORPHA:399081 |
| Congenital Myopathy 3 With Rigid Spine |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:602771 |
| Frontometaphyseal Dysplasia |
|
Hypoplasia of the musculature, Short distal phalanx of the thumb, Broad thumb, Joint contracture ... |
ORPHA:1826 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Toe syndactyly, Open bite, Narrow mouth, High palate, Pectus carinatum, Short toe, Downturned cor... |
ORPHA:1327 |
| Osteoglophonic Dysplasia |
|
Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Short neck, Broad phalanx, High pala... |
OMIM:166250 |
| Fetal Akinesia Deformation Sequence 1 |
|
Thin ribs, Decreased muscle mass, Micrognathia, Narrow mouth, Hip contracture, Talipes equinovaru... |
OMIM:208150 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Thin ribs, Platyspondyly, Multiple joint dislocation, Short femoral neck, Knee dislocation, Joint... |
OMIM:618395 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Erythema, Hypoplastic scapulae, Finger syndactyly, Micrognathia, 2-5 finger syndactyly, Absent to... |
OMIM:308050 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Cellulitis, Micrognathia, Ventral hernia, Short neck, High palate, Hip dislocation, Osteopenia, A... |
OMIM:618000 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Short distal phalanx of finger, Frontal bossing, Micrognathia, Easily subluxated first metacarpop... |
OMIM:311895 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ragged-red muscle fibers, Myopathy |
OMIM:545000 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Foot dorsiflexo... |
OMIM:619216 |
| Lamb-Shaffer Syndrome |
|
Optic atrophy, Micrognathia, Fused cervical vertebrae, Thick vermilion border, Hip dysplasia, Sco... |
ORPHA:530983 |
| Osteogenesis Imperfecta, Type Ii |
|
Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long... |
OMIM:166210 |
| Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa... |
OMIM:123320 |
| Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Torus... |
ORPHA:2790 |
| Osteogenesis Imperfecta |
|
Thin ribs, Carious teeth, Abnormal tibia morphology, Enlarged vertebral pedicles, Micrognathia, G... |
ORPHA:666 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... |
OMIM:616924 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Congenital hip dislocation, Distal amyotrophy, Athetosis, Delayed skeletal maturation, Umbilical ... |
OMIM:219150 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... |
OMIM:612937 |
| Nestor-Guillermo Progeria Syndrome |
|
Thin ribs, Dry skin, Micrognathia, Limited elbow movement, Thin vermilion border, Flexion contrac... |
OMIM:614008 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Hand clenching, Scoliosis, Abnormal anterior horn cell morphology, Retrognathia, Skeletal muscle ... |
OMIM:611890 |
| Aminopterin Syndrome Sine Aminopterin |
|
Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia, Intrauterine growth r... |
OMIM:600325 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers |
OMIM:609283 |
| Bent Bone Dysplasia Syndrome 2 |
|
Thin ribs, Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Short neck, Osteopenia, Shor... |
OMIM:620076 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Abnormal epiphysis morphology, Slender long bone, Carpal osteolysis, Camptodactyly of finger, Met... |
ORPHA:2774 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy |
ORPHA:366 |
| Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... |
ORPHA:171442 |
| Osteogenesis Imperfecta, Type Viii |
|
Thin ribs, Radial bowing, Barrel-shaped chest, Decreased skull ossification, Multiple prenatal fr... |
OMIM:610915 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Abnormal sternum morphology, S... |
ORPHA:166016 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... |
OMIM:608099 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Natal tooth, Neonatal death, Short neck, Short foot, Short toe, Hamartoma o... |
OMIM:269860 |
| Pelvis-Shoulder Dysplasia |
|
Fifth finger distal phalanx clinodactyly, Micrognathia, Bell-shaped thorax, Thick anterior alveol... |
ORPHA:2839 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Tongue fasciculations, Abnormal anterior horn cell morphology, Interph... |
ORPHA:1145 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin ribs, Small hand, Carious teeth, Delayed skeletal maturation, Delayed cranial suture closure... |
ORPHA:93324 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:255320 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Minicore myopathy, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Scapu... |
ORPHA:424107 |
| Distal Nebulin Myopathy |
|
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Foot dorsiflexor weak... |
ORPHA:399103 |
| Lethal Congenital Contracture Syndrome 5 |
|
Thin ribs, Centrally nucleated skeletal muscle fibers, Congenital contracture, Decreased nerve co... |
OMIM:615368 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Rhizomelia, Di... |
OMIM:300863 |
| Dystonia-Deafness Syndrome 1 |
|
Hypoplastic scapulae, Oculogyric crisis, Cleft upper lip, Generalized dystonia, Leg dystonia, Kyp... |
OMIM:607371 |
| Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Skeletal muscle atrophy, Slender long bone, Limitation of joint mobility, Sacrococcygeal pilonida... |
ORPHA:2840 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Patellar dislocation, Finger syndactyly, Tibial torsion, Cervical ribs, Fibular apla... |
ORPHA:3320 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... |
ORPHA:276435 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... |
OMIM:253601 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620138 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... |
OMIM:608807 |
| Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy |
OMIM:616314 |
| Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Death in early adulthood, Open mouth, Everted lower lip vermilion, Lar... |
ORPHA:192 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... |
OMIM:274000 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Optic atrophy, Pectus carinatum, Decreased motor nerve conduction velocity, Skeletal muscle atrop... |
OMIM:615419 |
| Diastrophic Dysplasia |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Bowing of the long bones, Abnorm... |
ORPHA:628 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Epiphyseal dysplasia, Carpal synostosis, Dysplasia of the femoral head, Bowing of the long bones,... |
OMIM:615349 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Cone-shaped epiphysis, Unilateral cleft lip, Shagreen patch, Delayed cranial suture closure, Abno... |
ORPHA:2511 |
| Nemaline Myopathy 9 |
|
Nemaline bodies, Narrow chest, Micrognathia, Polyhydramnios, High palate, Scoliosis, Arthrogrypos... |
OMIM:615731 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... |
ORPHA:206549 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy, Decreased muscle mass |
OMIM:607091 |
| Momo Syndrome |
|
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Delayed... |
OMIM:157980 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
| Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Abnormality of the dentition, Umbilical hernia, Micrognathia, Femoral bowing, Biconcav... |
OMIM:617952 |
| Momo Syndrome |
|
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u... |
ORPHA:2563 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Micrognathia, Short neck, Abnormal bone ossification, Flattened epiphysis, High palate, Flat acet... |
ORPHA:163649 |
| Microcephalic osteodysplastic primordial dwarfism, type III |
|
Delayed cranial suture closure, Thick upper lip vermilion, Dislocation of the femoral head, Micro... |
OMIM:210730 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Scapular winging, Weakness of facial musculature, Angulated muscle fibers, Shoulder girdle muscle... |
OMIM:619477 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Muscular dystrophy, Shoulder girdle muscle weakness, Quadriceps muscle atrophy, Calf muscle hyper... |
OMIM:611307 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... |
OMIM:310440 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb muscle weakness, Ankle clonus, Joint contracture, High palate... |
OMIM:611225 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Micrognathia, Decreased skull ossification, Short neck, Multiple pren... |
OMIM:616897 |
| Three M Syndrome 3 |
|
Slender long bone, Long philtrum, Short thorax, Thick vermilion border, Increased vertebral heigh... |
OMIM:614205 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Nemaline bodies, Fusion of midcervical facet joints, Limb muscle weakness, Widening of cervical s... |
OMIM:606842 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Talipes equinovarus, Short neck, U-Shaped upper lip vermilion, Hip dislocation, ... |
OMIM:301041 |
| Legg-Calvé-Perthes Disease |
|
Abnormality of the dentition, Joint dislocation, Skeletal muscle atrophy, Delayed skeletal matura... |
ORPHA:2380 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... |
OMIM:605637 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Abnormal rib cage morphology, Osteopenia, Mandibular prognathia, Retrognathia, Slender long bone,... |
OMIM:212066 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
| Malan Overgrowth Syndrome |
|
Plagiocephaly, Slender long bone, Frontal bossing, Scaphocephaly, Narrow mouth, Accelerated skele... |
ORPHA:420179 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus... |
OMIM:300695 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Congenital hip dislocation, Osteopenia, Long philtrum, Decreased muscle mass, Intrauterine growth... |
OMIM:612940 |
| Congenital Myopathy 20 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:620310 |
| Rafiq Syndrome |
|
Malar flattening, Joint hypermobility, Thin upper lip vermilion, Smooth philtrum, Dolichocephaly,... |
OMIM:614202 |
| Donnai-Barrow Syndrome |
|
Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia, Malar flattening, Shor... |
OMIM:222448 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal vertebral morphology, Hypoplastic scapulae, Limitation of joint mobility, Clinodactyly, ... |
ORPHA:95699 |
| Osteogenesis Imperfecta, Type Xxii |
|
Dentinogenesis imperfecta, Multiple small vertebral fractures, Slender long bone, Intrauterine gr... |
OMIM:619795 |
| Myopathy, Myofibrillar, 4 |
|
Myofibrillar myopathy, Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities |
OMIM:609452 |
| Melnick-Needles Syndrome |
|
Tooth malposition, Hypoplastic scapulae, Delayed cranial suture closure, Genu valgum, Micrognathi... |
OMIM:309350 |
| Weaver Syndrome |
|
Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe... |
OMIM:277590 |
| Kenny-Caffey Syndrome, Type 1 |
|
Thin ribs, Small hand, Carious teeth, Slender long bone, Delayed skeletal maturation, Intrauterin... |
OMIM:244460 |
| Cooper-Jabs Syndrome |
|
Anteriorly placed anus, Camptodactyly of finger, Frontal bossing, Umbilical hernia, Abnormal hip ... |
ORPHA:1488 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Short neck, Diaphyseal undertubulation, Hypoplastic ilia, Lymphedema, Fibul... |
ORPHA:3144 |
| Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Nemaline bodies, Myopathy |
OMIM:618246 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Scoliosis, Talipes equinovarus, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tars... |
OMIM:618469 |
| Metatropic Dysplasia |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... |
OMIM:156530 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Arthrogryposis multiplex congenita, Umbilical hernia, Intrauterine growth retardation, Micrognath... |
OMIM:615834 |
| Tarp Syndrome |
|
Optic atrophy, Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Intrauterine growt... |
ORPHA:2886 |
| Pseudodiastrophic Dysplasia |
|
Platyspondyly, Rhizomelia, Hypoplasia of the odontoid process, Elbow dislocation, Tongue-like lum... |
OMIM:264180 |
| Campomelic Dysplasia |
|
Small abnormally formed scapulae, Narrow chest, Kyphosis, Tracheomalacia, 11 pairs of ribs, Micro... |
ORPHA:140 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal pelvic girdle bone morphology, Slender long bone, Intrauterine growth retardation, Abnor... |
ORPHA:1506 |
| Nemaline Myopathy 2 |
|
Increased variability in muscle fiber diameter, Hand clenching, Narrow mouth, Limb muscle weaknes... |
OMIM:256030 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
ORPHA:486815 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... |
ORPHA:399058 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... |
OMIM:603689 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Long philtrum, Intrauterine growth retardation, Micrognathia, Oligohydramnios, Malar flattening, ... |
OMIM:257300 |
| Orofaciodigital Syndrome Type 3 |
|
Bifid uvula, Abnormality of the dentition, Postaxial foot polydactyly, Hamartoma of tongue, Thora... |
ORPHA:2752 |
| Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Overlapping toe, Micrognathia, Cutaneous finger syndactyly, Talipes equino... |
OMIM:114300 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Grant Syndrome |
|
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Joint dis... |
ORPHA:2097 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Slender long bone, Clinodactyly, Delayed skeletal maturation, Lumbar hyperlordosis, Prominent occ... |
OMIM:613385 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... |
OMIM:255160 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad thumb, Thoracic hemivertebrae, Overlapping toe, Micrognathia, Abnormal optic disc morpholog... |
ORPHA:508498 |
| Congenital Myopathy 10A, Severe Variant |
|
Increased variability in muscle fiber diameter, Tongue fasciculations, Camptodactyly of finger, A... |
OMIM:614399 |
| Whistling Face Syndrome, Recessive Form |
|
Whistling appearance, Ulnar deviation of finger, Microglossia, Shoulder flexion contracture, Long... |
OMIM:277720 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... |
OMIM:618484 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:616812 |
| Marshall-Smith Syndrome |
|
Optic atrophy, Slender long bone, Retrognathia, Gingival overgrowth, Open mouth, Protruding tongu... |
ORPHA:561 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Absent thumb, Retrognathia, Elbow flexion contracture, Hypoplastic pelvis, ... |
OMIM:618022 |
| Congenital Myopathy 4B, Autosomal Recessive |
|
Shoulder girdle muscle atrophy, Nemaline bodies, Distal lower limb amyotrophy, Facial diplegia, D... |
OMIM:609284 |
| Non-Distal Duplication 10Q |
|
Micrognathia, Joint hypermobility, Brachycephaly, Everted lower lip vermilion, Pectus excavatum, ... |
ORPHA:1695 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,... |
OMIM:167320 |
| Benign Samaritan Congenital Myopathy |
|
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers |
ORPHA:324581 |
| Multiminicore Myopathy |
|
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... |
ORPHA:598 |
| Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
| Wrinkly Skin Syndrome |
|
Hypoplasia of the musculature, Carious teeth, Delayed cranial suture closure, Talipes equinovarus... |
OMIM:278250 |
| Crane-Heise Syndrome |
|
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... |
ORPHA:1512 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Carious teeth, Micrognathia, Genu valgum, Hip contracture, Flattened epiphysis, High palate, Adva... |
OMIM:618363 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoglycemic seizures, Hypoketotic hypoglycemia, Neonatal hypoglycemia, Nonketotic hypoglycemia |
ORPHA:293964 |
| Aarskog-Scott Syndrome |
|
Small hand, Finger syndactyly, Short neck, Everted lower lip vermilion, Short foot, Hypoplasia of... |
ORPHA:915 |
| Contractural Arachnodactyly, Congenital |
|
Micrognathia, Hip contracture, Arachnodactyly, Bowing of the long bones, Talipes equinovarus, Sho... |
OMIM:121050 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Atypical scarring of skin, Skeletal muscle atrophy, Atrophic scars, Abnormality of pr... |
ORPHA:75496 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle weakness, Myo... |
OMIM:300580 |
| Achondrogenesis, Type Ii |
|
Microretrognathia, Edema, Long philtrum, Broad long bones, Short tubular bones of the hand, Hypop... |
OMIM:200610 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Ankle flexion contracture, Plagiocephaly, Skeletal muscle atrophy, Upper limb muscle weakness, Lo... |
ORPHA:1143 |
| Typical Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Genu valgum, Micrognathia, Myopathy, Short neck, ... |
ORPHA:171436 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Hypoplasia of the maxilla, Decreased motor nerve conduction velocity, Skeletal muscle atrophy, De... |
OMIM:218000 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
| Periodontal Ehlers-Danlos Syndrome |
|
Periodontitis, Atrophy of alveolar ridges, Agenesis of permanent teeth, Atrophic scars, Micrognat... |
ORPHA:75392 |
| Lujan-Fryns Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodactyly of finger... |
ORPHA:776 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Rimmed vacuoles, Joint contracture of the hand, Intrinsic hand muscle atrophy, Weakness of the in... |
ORPHA:399086 |
| De Barsy Syndrome |
|
Decreased muscle mass, Narrow mouth, Excessive wrinkled skin, Talipes equinovarus, High palate, O... |
ORPHA:2962 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... |
ORPHA:488650 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Facial palsy, Ragged-red muscle fibers |
OMIM:616209 |
| Dysostosis, Stanescu Type |
|
Carious teeth, Bowing of the long bones, Short neck, Increased bone mineral density, Hypoplasia o... |
ORPHA:1798 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Myalgia, Decreased mitochondrial number, Multiple joint contractures, Myopathy, Limb-girdle muscl... |
ORPHA:352470 |
| Distal Myotilinopathy |
|
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... |
ORPHA:98911 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cleft upper lip, Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Scoliosis, Cleft ... |
OMIM:214300 |
| Pierpont Syndrome |
|
Short toe, Prominent fingertip pads, Short finger, Widely spaced teeth, Excessive wrinkling of pa... |
ORPHA:487825 |
| Fryns Syndrome |
|
Thin ribs, Joint contracture of the hand, Short neck, Anal atresia, Duodenal atresia, Prominent f... |
OMIM:229850 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, C... |
OMIM:113000 |
| Nemaline Myopathy 7 |
|
Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Limb muscle weakness, Knee f... |
OMIM:610687 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Retrognathia, Micrognathia, Oligohydramnios, Congenital diaphragmatic hernia, Decreased skull oss... |
OMIM:263210 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Optic atrophy, Pectus carinatum, Dental crowding, Exaggerated median tongue furrow, Hyperplasia o... |
ORPHA:313892 |
| Robin Sequence-Oligodactyly Syndrome |
|
Finger aplasia, Abnormality of the dentition, Abnormal form of the vertebral bodies, Micrognathia... |
ORPHA:3104 |
| Man1B1-Cdg |
|
Eclabion, Pectus carinatum, Resting tremor, Malar flattening, Joint hypermobility, 2-3 toe syndac... |
ORPHA:397941 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Thin ribs, Retrognathia, Joint hypermobility, Polyhydramnios, High palate |
ORPHA:456328 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed cranial suture closure, Micrognathia, Flat occiput, High, narrow palate, Coarse metaphyse... |
ORPHA:2780 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Retrognathia, Intrauterine growth retardation, Oligohydramnios, Clinodactyly of the 5th toe, Shor... |
OMIM:620113 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Kyphosis, Lower limb muscle weakness, Spinal muscular at... |
OMIM:615290 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Pectus carinatum, Downturned corners of mouth, Lumbar hyperlordosis, Open mouth, Cervical C2/C3 v... |
OMIM:617796 |
| Neuralgic Amyotrophy |
|
Bifid uvula, Upper limb muscle weakness, Narrow mouth, Redundant neck skin, Upper limb pain, Spre... |
ORPHA:2901 |
| Squalene Synthase Deficiency |
|
Slender long bone, Retrognathia, Elbow flexion contracture, Dry skin, Intrauterine growth retarda... |
OMIM:618156 |
| Atelosteogenesis, Type Ii |
|
Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia... |
OMIM:256050 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Delayed cranial suture closure, Cutaneous finger syndactyly, Micrognathia, Humeroradial synostosi... |
OMIM:151050 |
| Muscular Dystrophy, Barnes Type |
|
Muscular dystrophy, Myopathy |
OMIM:158800 |
| Loeys-Dietz Syndrome 4 |
|
Arachnodactyly, Eosinophilic infiltration of the esophagus, Talipes equinovarus, Torticollis, Hig... |
OMIM:614816 |
| Thanatophoric Dysplasia |
|
Platyspondyly, Abnormal ilium morphology, Narrow chest, Short thorax, Micromelia, Frontal bossing... |
ORPHA:2655 |
| Congenital Myopathy 16 |
|
Tongue tremor, Lumbar hyperlordosis, Micrognathia, Narrow mouth, Postural tremor, Scapular wingin... |
OMIM:618524 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Downturned corners of mouth, Long philtrum, Intrauterine growth retardation, Narrow mouth, Joint ... |
OMIM:617333 |
| Pelvis-Shoulder Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Optic... |
OMIM:169550 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Genu recurvatum, Optic atrophy, Slender long bone, Downturned corners of mouth, Hyperextensible s... |
ORPHA:1185 |
| Arthrogryposis, Distal, Type 1C |
|
Pursed lips, Narrow mouth, Hip contracture, Talipes equinovarus, Short neck, High palate, Cleft l... |
OMIM:619110 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Minicore myopathy, Increased endomysial connective tissue, Clinodactyly, Arthrogryposis multiplex... |
ORPHA:178148 |
| Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy |
ORPHA:50817 |
| Frontometaphyseal Dysplasia 2 |
|
Broad thumb, Decreased muscle mass, Hip contracture, Talipes equinovarus, High palate, Dislocated... |
OMIM:617137 |
| Shashi-Pena Syndrome |
|
Kyphosis, Retrognathia, Intrauterine growth retardation, Thin upper lip vermilion, Cervical C2/C3... |
OMIM:617190 |
| Childhood-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Narrow chest, Arthrogryposis mul... |
ORPHA:171439 |
| Recombinant Chromosome 8 Syndrome |
|
Abnormality of the dentition, Joint contracture of the hand, Downturned corners of mouth, Thick l... |
OMIM:179613 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Broad thumb, Exaggerated median tongue furrow, Congenital diaphragmatic hernia, Talipes equinovar... |
OMIM:312870 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Kyphosis, Shoulder g... |
OMIM:606612 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Thin ribs, Delayed cranial suture closure, Decreased fibular diameter, Generalized lipodystrophy,... |
OMIM:619127 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2W |
|
Slender long bone, Hand muscle weakness, Distal lower limb muscle weakness, Intrinsic hand muscle... |
ORPHA:488333 |
| Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
| Myopathy, Myofibrillar, 8 |
|
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Spinal rigidity, Dental malocclusion... |
OMIM:617258 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Thin ribs, Flexion contracture, Narrow mouth, Optic nerve hypoplasia |
OMIM:614833 |
| Nemaline Myopathy 8 |
|
Myofibrillar myopathy, Nemaline bodies, Flexion contracture, Facial palsy |
OMIM:615348 |
| X-Linked Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... |
ORPHA:596 |
| 3P25.3 Microdeletion Syndrome |
|
Broad thumb, Overlapping toe, Micrognathia, 2-3 finger syndactyly, High, narrow palate, Downturne... |
ORPHA:435638 |
| Bartsocas-Papas Syndrome 1 |
|
Hypoplastic scapulae, Hypoplastic iliac wing, Dry skin, Micrognathia, Talipes equinovarus, Short ... |
OMIM:263650 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Plagiocephaly, Patellar dislocation, Elbow dislocation, Abnormal form of the vertebral bodies, Ab... |
ORPHA:2916 |
| Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the patella, High palate, Duodenal ulcer, ... |
OMIM:135900 |
| Lateral Meningocele Syndrome |
|
Decreased muscle mass, Micrognathia, Short neck, High palate, Keloids, Inguinal hernia, Biconcave... |
OMIM:130720 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... |
OMIM:300696 |
| Myopathy, Centronuclear, 2 |
|
Centrally nucleated skeletal muscle fibers, Scapular winging, Flexion contracture, Facial palsy, ... |
OMIM:255200 |
| Arterial Tortuosity Syndrome |
|
Bifid uvula, Pectus carinatum, Long philtrum, Umbilical hernia, Soft, doughy skin, Micrognathia, ... |
OMIM:208050 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Platyspondyly, Narrow chest, Rhizomelia, Abnormal epiphysis morphology, Downturned corners of mou... |
ORPHA:93267 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... |
OMIM:619566 |
| Myopathy, Distal, 3 |
|
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, EMG: myopa... |
OMIM:610099 |
| Myopathy, Myofibrillar, 7 |
|
Spinal rigidity, Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle f... |
OMIM:617114 |
| Mosaic Trisomy 14 |
|
Narrow chest, Camptodactyly of finger, Frontal bossing, Micrognathia, Ectopic anus, Short neck, A... |
ORPHA:1703 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... |
ORPHA:401768 |
| Geroderma Osteodysplasticum |
|
Periodontitis, Beaking of vertebral bodies, Irregular vertebral endplates, Hyperextensibility of ... |
OMIM:231070 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Pectus carinatum, Skeletal muscle atrophy, Abnormal muscle fiber morph... |
ORPHA:3068 |
| Mosaic Trisomy 20 |
|
Craniofacial asymmetry, Narrow chest, Cleft lip, Retrognathia, Clinodactyly, Spinal canal stenosi... |
ORPHA:1724 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Nemaline bodies, Pectus carinatum, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower lim... |
OMIM:620389 |
| Bohring-Opitz Syndrome |
|
Overlapping toe, Micrognathia, Narrow mouth, Bilateral cleft palate, Dislocated radial head, Synd... |
OMIM:605039 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Atlantoaxial dislocation, Decreased muscle mass, Recurrent joint dislocation, Narrow mouth, Myopa... |
ORPHA:2953 |
| Wiedemann-Rautenstrauch Syndrome |
|
Thin ribs, Natal tooth, Clinodactyly, Dry skin, Micrognathia, Narrow mouth, Reduced subcutaneous ... |
OMIM:264090 |
| Short Syndrome |
|
Dental malocclusion, Delayed eruption of teeth, Clinodactyly, Slender long bone, Radial deviation... |
OMIM:269880 |
| Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Type 1 muscle fiber predominance, Limb muscle weakness, Myopathy, Type 2 m... |
OMIM:603034 |
| Rigid Spine Syndrome |
|
Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Hip contracture, Myop... |
ORPHA:97244 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
