| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... |
OMIM:158600 |
| Polyglucosan Body Myopathy 2 |
|
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... |
OMIM:616199 |
| Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... |
ORPHA:611 |
| Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy |
OMIM:617030 |
| Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Deposits immunoreactive to beta... |
OMIM:605820 |
| Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... |
OMIM:617158 |
| Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... |
OMIM:618655 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... |
OMIM:609115 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
| Distal Myopathy, Welander Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Foot dorsiflexor we... |
ORPHA:603 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... |
OMIM:601954 |
| Gne Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... |
ORPHA:602 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies |
OMIM:609524 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Shoulder girdle muscle weakness, Weakness of facial musculature, Angulated muscle fibers, Scapula... |
OMIM:619477 |
| Parana Hard Skin Syndrome |
|
Generalized hirsutism, Short stature, Respiratory insufficiency, Pectus carinatum, Hyperkeratosis... |
ORPHA:2812 |
| Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, ... |
OMIM:609200 |
| Spinal Muscular Atrophy, Type Iv |
|
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... |
OMIM:271150 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy |
OMIM:609500 |
| Mitochondrial Myopathy With Diabetes |
|
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fibers, Lim... |
OMIM:500002 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy |
OMIM:616209 |
| 46,Xx Testicular Disorder Of Sex Development |
|
Polycystic ovaries, Ambiguous genitalia, Decreased testicular size, Male hypogonadism |
ORPHA:393 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... |
ORPHA:178464 |
| Oculopharyngodistal Myopathy 2 |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... |
OMIM:618940 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... |
ORPHA:34516 |
| Nemaline Myopathy 9 |
|
High palate, Narrow chest, Cleft palate, Micrognathia, Respiratory insufficiency, Scoliosis, Arth... |
OMIM:615731 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Increased intramyocellul... |
ORPHA:457050 |
| Oculopharyngeal Muscular Dystrophy |
|
Ragged-red muscle fibers, Rimmed vacuoles, Abnormal muscle fiber morphology, Myopathy |
ORPHA:270 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... |
OMIM:615424 |
| Tubular Aggregate Myopathy |
|
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... |
ORPHA:2593 |
| Nemaline Myopathy 6 |
|
Nemaline bodies, Limb muscle weakness, Myopathy |
OMIM:609273 |
| Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
| Leri Pleonosteosis |
|
Abnormality of finger, Severe short stature, Genu recurvatum, Abnormally straight spine, Lack of ... |
ORPHA:2900 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Lumbar hyperlordosis, Atlantoaxial dislocation, Short stature, Spondylolysis, Os odontoideum, Atl... |
OMIM:600561 |
| Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... |
OMIM:254130 |
| Distal Myopathy With Anterior Tibial Onset |
|
Intrinsic hand muscle atrophy, Finger flexor weakness, Limb-girdle muscle weakness, Weakness of t... |
ORPHA:178400 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
| Familial Hyperprolactinemia |
|
Amenorrhea, Infertility, Oligomenorrhea, Menorrhagia, Hemorrhagic ovarian cyst, Female hypogonadism |
ORPHA:397685 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... |
ORPHA:206549 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Spinal rigidity, Flexion contracture, Pallor, EMG: myopathic abnormalities, Muscular dystrophy, P... |
OMIM:608423 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... |
OMIM:619733 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Redundant skin, Respiratory failure, Intrauterine growth retardation, Neonatal death |
OMIM:301021 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Muscular dystrophy, Increased endomysial connective tissue, Ankle flexion contracture, Flexion co... |
OMIM:617072 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
High palate, Pectus excavatum, Malar flattening, Bruising susceptibility, Excessive wrinkled skin... |
OMIM:612940 |
| Metatropic Dysplasia |
|
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Disproportionate sh... |
OMIM:156530 |
| Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Pectus excavatum, Weakness of facial musculature, Increased variabil... |
ORPHA:536516 |
| Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Narrow chest, Respiratory insufficiency, Distal arthrogryposis, Arthrogryposis multiplex congenit... |
OMIM:208081 |
| Myasthenic Syndrome, Congenital, 13 |
|
Muscle fiber tubular inclusions |
OMIM:614750 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Narrow mouth, Pectus excavatum, Flexion contracture, Microgn... |
ORPHA:1979 |
| Tibial Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... |
ORPHA:609 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in lower limbs, Scapular winging, Increased variability in muscle fiber ... |
OMIM:301075 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
High palate, Pectus excavatum, Spinal rigidity, Muscular dystrophy, Scoliosis, Dry skin, Follicul... |
OMIM:617066 |
| Neuralgic Amyotrophy |
|
Sprengel anomaly, Narrow mouth, Cleft palate, Short stature, Respiratory insufficiency, Scapular ... |
ORPHA:2901 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Gingival overgrowth, Retrognathia, Micrognathia, Delayed cranial suture clo... |
ORPHA:1832 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Muscle fiber splitting, Myopathy, Proximal amyotrophy |
OMIM:618129 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia |
OMIM:226735 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, ... |
ORPHA:280333 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... |
OMIM:253601 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers |
OMIM:609283 |
| Hereditary Continuous Muscle Fiber Activity |
|
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia |
ORPHA:972 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
High palate, Respiratory distress, Muscle fiber necrosis, Pectus excavatum, Cleft palate, EMG: my... |
OMIM:614399 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Facial hypotonia, Increased endomysial connective tissue, Reduced vital capacity, Shoulder girdle... |
ORPHA:266 |
| Central Core Disease Of Muscle |
|
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... |
OMIM:117000 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Thick eyebrow, Short stature, Abnormality of the dentition, Scoli... |
ORPHA:3268 |
| Vacuolar Neuromyopathy |
|
Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Muscle fiber splitting, Shoulder ... |
OMIM:601846 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy |
OMIM:617760 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:300717 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... |
ORPHA:276435 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... |
OMIM:254110 |
| Costello Syndrome |
|
Narrow palate, Woolly hair, Macroglossia, Short stature, Abnormality of the dentition, Lack of sk... |
ORPHA:3071 |
| Huriez Syndrome |
|
Palmoplantar keratoderma, Lack of skin elasticity, Dry skin, Sclerodactyly |
ORPHA:384 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance... |
OMIM:619042 |
| Myopathy, Scapulohumeroperoneal |
|
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... |
OMIM:616852 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance, Facial palsy |
ORPHA:178145 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder... |
OMIM:613530 |
| Anonychia With Flexural Pigmentation |
|
Macular telangiectasia, Follicular hyperkeratosis, Carious teeth, Hyperkeratosis, Abnormal hair m... |
ORPHA:69125 |
| Merrf |
|
Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism |
ORPHA:1875 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... |
OMIM:613204 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
| Lamellar Ichthyosis |
|
Sparse hair, Short stature, Everted lower lip vermilion, Abnormality of the dentition, Lack of sk... |
ORPHA:313 |
| 8Q22.1 Microdeletion Syndrome |
|
Sparse eyebrow, Sparse eyelashes, Craniosynostosis, Abnormality of the dentition, Lack of skin el... |
ORPHA:178303 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, EM... |
ORPHA:399086 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
High palate, Multiple joint contractures, Pectus excavatum, Spinal rigidity, EMG: myopathic abnor... |
ORPHA:486815 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
High palate, Reduced vital capacity, Thoracic kyphoscoliosis, Skeletal muscle atrophy, Respirator... |
ORPHA:98913 |
| Myopathy, Centronuclear, 1 |
|
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... |
OMIM:160150 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
High palate, Kyphosis, Facial diplegia, Retrognathia, Micrognathia, Hip dysplasia, Short neck, Sc... |
OMIM:611890 |
| Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Irregular vertebral endplates, Metaphyseal irregularity, Widely-spaced incisors, Slender finger, ... |
OMIM:601668 |
| Zebra Body Myopathy |
|
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... |
ORPHA:97240 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... |
ORPHA:399058 |
| Acral Self-Healing Collodion Baby |
|
Lack of skin elasticity, Erythema, Palmoplantar scaling skin, Localized epidermolytic hyperkeratosis |
ORPHA:281127 |
| Myopathy, Myofibrillar, 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... |
OMIM:608810 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy |
OMIM:618992 |
| Myopathy, Distal, 3 |
|
Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles,... |
OMIM:610099 |
| Amyotrophic Lateral Sclerosis 20 |
|
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
| Distal Myopathy, Tateyama Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... |
ORPHA:488650 |
| Spinal Muscular Atrophy, Type I |
|
Proximal muscle weakness in lower limbs, Respiratory insufficiency, Death in childhood, Spinal mu... |
OMIM:253300 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Scapular winging,... |
OMIM:616052 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... |
OMIM:300696 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Increased endomysial connective tissue, Slender finger, Short neck, Increased variability in musc... |
ORPHA:75840 |
| Oligodontia |
|
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... |
OMIM:619903 |
| Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Tooth agenesis, Cleft palate, Open bite, Vertebral clefting, Scol... |
ORPHA:1248 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Lower lim... |
OMIM:616924 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Narrow mouth, Flexion contracture, Micrognathia, Lack of skin elasticity, Scoliosis, Sc... |
OMIM:615381 |
| Nemaline Myopathy 4 |
|
Facial diplegia, Nemaline bodies, Flexion contracture, Type 1 muscle fiber predominance, Limb mus... |
OMIM:609285 |
| Myopathy, Myosin Storage, Autosomal Dominant |
|
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... |
OMIM:608358 |
| Werner Syndrome |
|
Pili torti, Sparse scalp hair, Telangiectasia of the skin, Prematurely aged appearance, Subcutane... |
ORPHA:902 |
| Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia |
OMIM:306950 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:300816 |
| Cleft Lip/Palate |
|
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... |
ORPHA:199306 |
| Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
| Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck |
OMIM:608681 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Enlarged joints, Kyphosis, Hip contracture, Severe short stature, Hyperextensibility of the finge... |
OMIM:313420 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy |
ORPHA:1878 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism |
ORPHA:242 |
| Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter |
OMIM:611615 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Alopecia totalis, Lack of skin elasticity, Palmoplantar keratoderma, Nail dystrophy |
ORPHA:1366 |
| Myofibrillar Myopathy 11 |
|
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... |
OMIM:619178 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ragged-red muscle fibers, Myopathy |
OMIM:545000 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Sclerodactyly, Camptodactyly of finger, Dry skin, Palmoplantar hyperkeratosis, Facial erythema, A... |
OMIM:212360 |
| Neu-Laxova Syndrome |
|
Cleft palate, Lack of skin elasticity, Pterygium, Trismus, Skeletal muscle atrophy, Intrauterine ... |
ORPHA:2671 |
| Multiminicore Myopathy |
|
Abnormal muscle fiber morphology, Proximal muscle weakness in lower limbs, Minicore myopathy, Con... |
ORPHA:598 |
| Distal Myotilinopathy |
|
EMG: myopathic abnormalities, Multiple joint contractures, Abnormal muscle fiber myotilin, Distal... |
ORPHA:98911 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle f... |
OMIM:603511 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... |
OMIM:612937 |
| Myopathy, Distal, 1 |
|
Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Type 1 muscle fiber pr... |
OMIM:160500 |
| Muscular Dystrophy, Congenital, 1B |
|
Generalized muscle hypertrophy, Pectoralis amyotrophy, Spinal rigidity, Congenital muscular dystr... |
OMIM:604801 |
| Muscular Dystrophy, Congenital, Merosin-Positive |
|
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... |
OMIM:609456 |
| Distal Nebulin Myopathy |
|
Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foot dorsiflexor w... |
ORPHA:399103 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... |
OMIM:300718 |
| Arthrogryposis, Distal, Type 1C |
|
High palate, Pursed lips, Cleft palate, Short neck, Rocker bottom foot, Clinodactyly of the 5th f... |
OMIM:619110 |
| Glycogen Storage Disease Ixd |
|
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... |
OMIM:300559 |
| Sprengel Deformity |
|
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... |
OMIM:184400 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Flexion contracture, Micrognathia, Congenital hip dislocation, Scoliosis, Overlapping f... |
OMIM:618291 |
| Mohr Syndrome |
|
High palate, Pectus excavatum, Cleft palate, Lobulated tongue, Tongue nodules, Hypoplasia of the ... |
OMIM:252100 |
| Myopathy, Congenital Proximal, With Minicore Lesions |
|
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... |
OMIM:618823 |
| Nemaline Myopathy 5 |
|
Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Shoulder fl... |
OMIM:605355 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
High palate, Abnormal eyebrow morphology, Short distal phalanx of finger, Prematurely aged appear... |
ORPHA:90153 |
| Myasthenic Syndrome, Congenital, 14 |
|
Ragged-red muscle fibers, Scapular winging, Limb-girdle muscle weakness, Flexion contracture |
OMIM:616228 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... |
OMIM:253700 |
| Nemaline Myopathy 1 |
|
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Shoulder gir... |
OMIM:609284 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Cleft palate, Carious teeth, Genu valgum, Small epiphyses, Short long bone, Thoracic... |
OMIM:618363 |
| Oculopharyngodistal Myopathy 3 |
|
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... |
OMIM:619473 |
| Trichothiodystrophy 2, Photosensitive |
|
Congenital nonbullous ichthyosiform erythroderma, Tiger tail banding, Short stature, Coarse hair,... |
OMIM:616390 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Multiple joint contractures, Hypoglycosylation of alpha-... |
ORPHA:370968 |
| Intermediate Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, High, narrow palate, Flexion contracture, EMG: myopathic abnorm... |
ORPHA:171433 |
| Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Platyspondyly, Scoliosis, Delayed eruption of teeth,... |
OMIM:265900 |
| Restrictive Dermopathy 2 |
|
Respiratory distress, Short clavicles, Microretrognathia, Cyanosis, Scleroderma, Rectal prolapse,... |
OMIM:619793 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Platyspondyly, Disproportionate short-trunk short stature, Irregular acetabular roof, Genu valgum... |
ORPHA:93316 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Rib fusion, Scoliosis, Hypoplasia of the odontoid proces... |
OMIM:609813 |
| Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles |
ORPHA:263494 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Rimmed vacuoles, Pelvic girdle muscle wea... |
OMIM:167320 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Wide mouth, Thin ribs, Short stature, Micrognathia, Short philtrum, Platyspondyly, Metaphyseal cu... |
ORPHA:163966 |
| Premature Ovarian Failure 5 |
|
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... |
OMIM:611548 |
| Weill-Marchesani Syndrome 2 |
|
High palate, Lack of skin elasticity, Hypoplasia of the maxilla, Broad ribs, Proportionate short ... |
OMIM:608328 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variability in muscle fiber diamet... |
OMIM:603689 |
| Ulerythema Ophryogenesis |
|
Miscarriage, Dry skin, Follicular hyperkeratosis, Facial erythema, Hyperkeratotic papule, Sparse ... |
ORPHA:3406 |
| Cleidocranial Dysplasia |
|
Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruption of teeth, Ta... |
ORPHA:1452 |
| Myopathy, Myofibrillar, 4 |
|
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting |
OMIM:609452 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculat... |
OMIM:619566 |
| Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Dens in dente, Pectus excavatum, Hemivertebrae, Macrodontia, Pectus carinatum, Mandibular prognat... |
OMIM:263540 |
| Lowry-Maclean Syndrome |
|
Cleft palate, Craniosynostosis, Diaphragmatic eventration, Delayed eruption of teeth, Intrauterin... |
OMIM:600252 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... |
ORPHA:34515 |
| Sjögren-Larsson Syndrome |
|
Kyphosis, Urticaria, Short stature, Erythema, Dry skin, Scoliosis, Hyperkeratosis, Ichthyosis, Ab... |
ORPHA:816 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Muscle fiber atrophy, Rimmed vacuoles, Myositis, Centrally nucleated skeletal muscle fibers, Skel... |
OMIM:615422 |
| Mitral Valve Prolapse 1 |
|
High palate, Pectus excavatum, High, narrow palate, Striae distensae, Reversed usual vertebral co... |
OMIM:157700 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Abnormal sternum morphology, Dislocated ra... |
ORPHA:166016 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Platyspondyly, Delayed eruption of teeth, Tapered finger, Flat capital femoral epiph... |
OMIM:612350 |
| Regional Odontodysplasia |
|
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... |
ORPHA:83450 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:617070 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
High palate, Pectus excavatum, Pectus carinatum, Mandibular prognathia, Intrauterine growth retar... |
ORPHA:1327 |
| Nemaline Myopathy 2 |
|
Nemaline bodies, Flexion contracture, Weakness of facial musculature, EMG: myopathic abnormalitie... |
OMIM:256030 |
| Insulin-Resistance Syndrome Type A |
|
Generalized hirsutism, Hyperkeratosis, Delayed puberty |
ORPHA:2297 |
| Ledderhose Disease |
|
Lack of skin elasticity |
ORPHA:199251 |
| Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Posterior rib fusion, Pectus carinatum... |
OMIM:122600 |
| Gonadoblastoma |
|
Ovarian gonadoblastoma, Gonadal dysgenesis with female appearance, male, Female external genitali... |
ORPHA:206484 |
| Porokeratosis Of Mibelli |
|
Hyperkeratosis, Porokeratosis, Cutaneous photosensitivity |
ORPHA:735 |
| Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
| Bethlem Myopathy 2 |
|
Myopathy, Scapular winging, Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:616471 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Short stature, Pallor, Hypopigmentation of hair, Platyspondyly, Albinism |
ORPHA:2786 |
| Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... |
OMIM:160565 |
| Amish Nemaline Myopathy |
|
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Shoulder flexion... |
ORPHA:98902 |
| Aromatase Deficiency |
|
Hypergonadotropic hypogonadism, Primary amenorrhea, Ovarian cyst, Female pseudohermaphroditism |
OMIM:613546 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Amenorrhea, Abnormality of the urethra, Oligomenorrhea, Menorrhagia, Polycystic ovaries, Abnormal... |
ORPHA:2795 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Palmoplantar keratoderma, Hyperkeratosis, Erythema, Hypergranulosis |
OMIM:617525 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... |
OMIM:617526 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Diffuse palmoplantar hyperkeratosis, Acrocyanosis |
ORPHA:86918 |
| Baralle-Macken Syndrome |
|
Kyphosis, Hirsutism, High, narrow palate, Acanthosis nigricans, Tapered finger, Striae distensae |
OMIM:619255 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Severe short stature, Death in childhood, Tapered finger, Alopecia totalis, Acrocyanosis, Short f... |
OMIM:302000 |
| Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Cleft palate, Symphalangism affecting the phalanges of the hand, Ul... |
ORPHA:628 |
| Myopathy, Proximal, With Ophthalmoplegia |
|
Scapular winging, Congenital contracture, Muscle fiber inclusion bodies, Myopathy |
OMIM:605637 |
| Polycystic Ovary Syndrome 1 |
|
Amenorrhea, Oligomenorrhea, Enlarged polycystic ovaries |
OMIM:184700 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
High palate, Cleft palate, Platyspondyly, Pectus carinatum, Ulnar deviation of finger, Abnormal e... |
ORPHA:93359 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Ankle f... |
OMIM:613818 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Flexion contracture, Respiratory insufficiency, Spinal muscular atrophy, Respiratory failure, Ske... |
OMIM:616081 |
| Oculopharyngodistal Myopathy 4 |
|
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... |
OMIM:619790 |
| Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Inflammatory ... |
OMIM:123320 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:616816 |
| Hepatic Adenomas, Familial |
|
Polycystic ovaries |
OMIM:142330 |
| Filippi Syndrome |
|
Hypertrichosis, Postnatal growth retardation, Hypodontia, Sparse hair, Thin vermilion border, Sho... |
OMIM:272440 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Proximal muscle weakness in lower limbs, L... |
ORPHA:352479 |
| Hyperekplexia 4 |
|
High palate, Kyphoscoliosis, Flexion contracture, Adducted thumb, Camptodactyly, Distal arthrogry... |
OMIM:618011 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Mus... |
OMIM:613157 |
| Cleidocranial Dysplasia 1 |
|
High palate, Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Cleft pala... |
OMIM:119600 |
| Three M Syndrome 2 |
|
High palate, Dental malocclusion, Lumbar hyperlordosis, Severe short stature, Malar flattening, S... |
OMIM:612921 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion contracture |
OMIM:607855 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Abnormal rib morp... |
OMIM:613686 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ... |
ORPHA:1028 |
| Salih Myopathy |
|
Flexion contracture, Calf muscle hypertrophy, Facial palsy, Centrally nucleated skeletal muscle f... |
OMIM:611705 |
| Osteogenesis Imperfecta, Type Xii |
|
High palate, Narrow mouth, Malar flattening, Short stature, Micrognathia, Scoliosis, Delayed erup... |
OMIM:613849 |
| Aquagenic Palmoplantar Keratoderma |
|
Palmoplantar keratoderma, Excessive skin wrinkling on dorsum of hands and fingers, Orthokeratotic... |
ORPHA:498359 |
| Xp22.3 Microdeletion Syndrome |
|
Polycystic ovaries, Hypogonadotropic hypogonadism, Secondary amenorrhea, Decreased fertility |
ORPHA:1643 |
| Dermatitis, Atopic |
|
Asthma, Pallor, Dry skin, Facial erythema, Allergic rhinitis, Ichthyosis |
OMIM:603165 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
High palate, Facial diplegia, Hypertrophied muscle fibers, Abnormal skeletal muscle morphology, I... |
ORPHA:98905 |
| Cole Disease |
|
Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis |
OMIM:615522 |
| Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Bell-shaped thorax, Short ribs |
OMIM:187750 |
| Antisynthetase Syndrome |
|
Telangiectasia of the skin, Joint dislocation, Lack of skin elasticity, Respiratory insufficiency... |
ORPHA:81 |
| Tricho-Dento-Osseous Syndrome |
|
Taurodontia, Abnormal hair quantity, Periapical tooth abscess, Finger clinodactyly, Microdontia, ... |
ORPHA:3352 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Delayed ... |
OMIM:184260 |
| Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis, Cutaneous photosensitivity |
ORPHA:1336 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis, Fragile skin |
OMIM:615028 |
| Pallister W Syndrome |
|
Agenesis of central incisor, Radial bowing, Joint contracture of the hand, Frontal upsweep of hai... |
OMIM:311450 |
| Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the tongue, Arachnoda... |
ORPHA:2759 |
| Geleophysic Dysplasia 1 |
|
Wide mouth, Pectus excavatum, Irregular capital femoral epiphysis, Joint contracture of the hand,... |
OMIM:231050 |
| Endosteal Hyperostosis, Worth Type |
|
Torus palatinus, Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morpho... |
ORPHA:2790 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased variability i... |
ORPHA:86812 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Diastasis recti, Overlapping toe, Pectus excavatum, Prominent sternum, Flexion contracture of fin... |
ORPHA:254528 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... |
OMIM:500009 |
| Acrootoocular Syndrome |
|
Pectus excavatum, Cutaneous syndactyly, Delayed eruption of teeth, Sandal gap, High, narrow palat... |
ORPHA:2980 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Oral mucosal blisters, Palmar hyperkeratosis, Abnormality of the dentition, Plantar hyperkeratosi... |
ORPHA:79399 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Asthma, Hypodontia, Short stature, Enamel hypoplasia, Hyperkeratosis, Nail dystrophy |
OMIM:616029 |
| Odontochondrodysplasia |
|
Narrow chest, Respiratory distress, Dentinogenesis imperfecta, Short stature, Retrognathia, Cone-... |
ORPHA:166272 |
| Desbuquois Dysplasia 2 |
|
Pectus excavatum, Cleft palate, Cutaneous syndactyly, Short neck, Platyspondyly, Monkey wrench fe... |
OMIM:615777 |
| Orofaciodigital Syndrome Type 2 |
|
High palate, Apnea, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Complete du... |
ORPHA:2751 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Premature loss of teeth, Flexion contracture of finger, Supernumerary tooth, Abnormality of the d... |
ORPHA:69087 |
| Pseudoxanthoma Elasticum |
|
High palate, Telangiectasia of the skin, Bruising susceptibility, Excessive wrinkled skin, Lack o... |
ORPHA:758 |
| Fryns Macrocephaly |
|
Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... |
OMIM:600302 |
| Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
ORPHA:480 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue |
ORPHA:663 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Severe short stature, Cleft palate, Short neck, Posterior rib fusi... |
ORPHA:1797 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Hidrotic ectodermal dysplasia, Kyphosis, Sparse hair, Brittle hair, Short stature, Arachnodactyly... |
ORPHA:1883 |
| Atelosteogenesis, Type Ii |
|
Cleft palate, Horizontal sacrum, Short neck, Platyspondyly, Sandal gap, Thoracic hypoplasia, Incr... |
OMIM:256050 |
| Lethal Acantholytic Erosive Disorder |
|
Clinodactyly of the 5th finger, Absent hair, Congenital alopecia totalis, Cleft palate, Absent ey... |
ORPHA:158687 |
| Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... |
OMIM:617565 |
| Arthrogryposis, Distal, Type 3 |
|
High palate, Pectus excavatum, Cleft palate, Down-sloping shoulders, Short neck, Congenital hip d... |
OMIM:114300 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty |
ORPHA:2229 |
| 3M Syndrome |
|
Short neck, Congenital hip dislocation, Delayed eruption of teeth, Hypoplasia of the ulna, Hypopl... |
ORPHA:2616 |
| Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased variability in musc... |
ORPHA:171442 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
High palate, Pectus excavatum, Lumbar hyperlordosis, Clinodactyly of the 5th finger, Cutis laxa, ... |
OMIM:619451 |
| Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... |
OMIM:300510 |
| Stiff Skin Syndrome |
|
Lack of skin elasticity, Thickened skin, Short stature |
ORPHA:2833 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
| Acquired Ichthyosis |
|
Erythema, Dry skin, Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:454 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:244850 |
| Trichorhinophalangeal Syndrome Type 1 And 3 |
|
High palate, Sparse hair, Sparse eyebrow, Abnormality of the dentition, Cone-shaped epiphysis, Pe... |
ORPHA:77258 |
| Erythrokeratodermia Variabilis |
|
Generalized hirsutism, Short stature, Alopecia, Erythema, Dry skin, Tapered finger, Patchy palmop... |
ORPHA:317 |
| Zimmermann-Laband Syndrome 3 |
|
High palate, Hypertrichosis, Absent distal phalanx of the 2nd toe, Facial hypertrichosis, Long ey... |
OMIM:618658 |
| Intellectual Disability, Birk-Barel Type |
|
High, narrow palate, Micrognathia, Short philtrum, Spinal muscular atrophy, Congenital finger fle... |
ORPHA:166108 |
| Otopalatodigital Syndrome, Type Ii |
|
Pectus excavatum, Cleft palate, Radial deviation of the 2nd finger, Femoral bowing, Platyspondyly... |
OMIM:304120 |
| Aarskog-Scott Syndrome |
|
Pectus excavatum, Cleft palate, Abnormality of the dentition, Short neck, Delayed eruption of tee... |
ORPHA:915 |
| Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Cleft palate, Micrognathia, Cyanosis, Tachypnea, Pneumothorax, Abnormal hemidiaphr... |
ORPHA:2257 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:616400 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Cleft upper lip, Kyphoscoliosis, Absent eyebrow, Cleft palate, Short stature, Joint contracture o... |
OMIM:601701 |
| Acrofacial Dysostosis, Palagonia Type |
|
Pili torti, Low anterior hairline, Supernumerary tooth, High, narrow palate, Malar flattening, Sh... |
ORPHA:1787 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
| Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
| Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement |
|
Hyperkeratosis, Congenital ichthyosiform erythroderma |
OMIM:270220 |
| Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
| Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Nemaline bodies, Myopathy |
OMIM:618246 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... |
ORPHA:353 |
| Nemaline Myopathy 8 |
|
Nemaline bodies, Flexion contracture, Myofibrillar myopathy, Death in infancy, Facial palsy, Resp... |
OMIM:615348 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Alopecia, Palmoplantar hyperker... |
ORPHA:79395 |
| Frontometaphyseal Dysplasia 1 |
|
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Scapular w... |
OMIM:305620 |
| Dysosteosclerosis |
|
High palate, Short sternum, Platyspondyly, Delayed eruption of teeth, Broad ribs, Sclerotic scapu... |
OMIM:224300 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Calf muscle... |
OMIM:618138 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis |
OMIM:146750 |
| Acrokeratosis Verruciformis |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101900 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Orthokeratosis, Alopecia, Congenital hip dislocation, Hypoplastic pelvis, Aplasia of the distal p... |
OMIM:308050 |
| Nemaline Myopathy 7 |
|
Nemaline bodies, Weakness of facial musculature, Minicore myopathy, Fatty replacement of skeletal... |
OMIM:610687 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal sclerosis, Platyspondyly, Hypoplasia of the capital femoral epiphysis, Pectus carinat... |
OMIM:609052 |
| Central Core Disease |
|
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Pelvic girdl... |
ORPHA:597 |
| 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 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
High palate, Kyphosis, Muscle fiber necrosis, Torticollis, Spinal rigidity, Flexion contracture, ... |
OMIM:254090 |
| 8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia |
DECIPHER:39 |
| Odontoonychodermal Dysplasia |
|
Widely spaced primary teeth, Orthokeratosis, Sparse eyebrow, Short nail, Dry hair, Sparse body ha... |
OMIM:257980 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Flexion contracture, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Nail dystrophy |
ORPHA:79503 |
| Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency |
OMIM:608996 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
| Chst3-Related Skeletal Dysplasia |
|
Enlarged joints, Kyphoscoliosis, Sparse eyebrow, Flexion contracture, Brachydactyly, Barrel-shape... |
ORPHA:263463 |
| Intellectual Disability And Myopathy Syndrome |
|
Dental malocclusion, Sleep apnea, Lumbar hyperlordosis, Cutis marmorata, Congenital hip dislocati... |
OMIM:619719 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Type 1 muscle fiber... |
ORPHA:424107 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Hyperkeratosis, Erythema, Scaling skin, Orthokeratotic hyperkeratosis |
OMIM:617571 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Scapuloperone... |
ORPHA:206559 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea |
OMIM:611722 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy |
ORPHA:238329 |
| Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
| Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Severe short stature, Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress, G... |
OMIM:619057 |
| Zimmermann-Laband Syndrome |
|
High palate, Wide mouth, Supernumerary tooth, Hypodontia, Cleft palate, Macroglossia, Thick eyebr... |
ORPHA:3473 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Weakness of facial muscul... |
ORPHA:254875 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
High palate, Retrognathia, Respiratory insufficiency, Respiratory failure, Arthrogryposis multipl... |
OMIM:615330 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Torticollis, Temporomandibular joint ankylosis, Episodic tachypnea, High, narrow palate, Sparse h... |
ORPHA:2872 |
| Breath-Holding Spells |
|
Pallor, Cyanosis |
OMIM:607578 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Abnormal muscle fiber morphology, Weakness of facial musculature, Spinal muscula... |
ORPHA:1145 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
| Becker Nevus Syndrome |
|
Hemivertebrae, Cervical ribs, Pectus excavatum, Scoliosis |
OMIM:604919 |
| Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... |
ORPHA:83451 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Agenesis of central incisor, Long upper lip, Cleft palate, Everted lower lip vermilion, Prominenc... |
ORPHA:364577 |
| Metatropic Dysplasia |
|
Narrow chest, Kyphosis, Halberd-shaped pelvis, Severe short stature, Clinodactyly of the 5th fing... |
ORPHA:2635 |
| Ichthyosis, Spastic Quadriplegia, And Mental Retardation |
|
Asthma, Flexion contracture, Erythema, Dry skin, Hyperkeratosis, Ichthyosis, Scaling skin, Growth... |
OMIM:614457 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers |
OMIM:616794 |
| Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
High palate, Anodontia, Dental malocclusion, Narrow palate, Supernumerary tooth, Pectus excavatum... |
OMIM:264475 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Sparse scalp hair, Cone-shaped epiphyses of the phalanges of the hand, Supernumerary tooth, Thick... |
ORPHA:502 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Hand muscle weakness, Increased endomysial connective tissue, Triceps weakness, EMG: myopathic ab... |
ORPHA:437572 |
| Loeys-Dietz Syndrome 4 |
|
High palate, Torticollis, Abnormal sternum morphology, Spondylolisthesis, High, narrow palate, Eo... |
OMIM:614816 |
| Temple Syndrome |
|
High palate, Cleft palate, Short stature, Flexion contracture, Micrognathia, Short philtrum, Smal... |
OMIM:616222 |
| Ramon Syndrome |
|
Telangiectasia of the skin, Generalized hirsutism, Narrow palate, Delayed eruption of teeth, Ging... |
ORPHA:3019 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... |
ORPHA:363417 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Ectodermal dysplasia, Sparse hair, Syndactyly, Follicular hyperkeratosis, Enamel hypoplasia, Palm... |
OMIM:613576 |
| W Syndrome |
|
Radial bowing, Camptodactyly, Hypoplasia of the ulna, Agenesis of maxillary central incisor, Broa... |
ORPHA:2804 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Wide mouth, Kyphosis, Macroglossia, Short stature, Small hand, Brachydactyly, Striae distensae, S... |
OMIM:300354 |
| Presynaptic Congenital Myasthenic Syndromes |
|
High palate, Respiratory arrest, Congenital hip dislocation, Pectus carinatum, Sudden episodic ap... |
ORPHA:98914 |
| Congenital Myasthenic Syndrome |
|
High palate, Respiratory arrest, Congenital hip dislocation, Pectus carinatum, Sudden episodic ap... |
ORPHA:590 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers |
OMIM:619024 |
| Hutchinson-Gilford Progeria Syndrome |
|
High palate, Limitation of movement at ankles, Impacted tooth, Lack of skin elasticity, Delayed e... |
ORPHA:740 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Muscle fiber necrosis, Muscular dystrophy, Increased variability in muscle fiber diameter, Limb-g... |
OMIM:616812 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Facial diplegia, Reduced muscle fiber alpha dystroglycan, EMG: myopathic abnormalities, Limb-gird... |
ORPHA:370980 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Nemaline bodies, Flexion contracture, Foot dorsiflexor weakness, Distal amyotrophy, Facial palsy,... |
OMIM:607684 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... |
ORPHA:254864 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Striae distensae |
OMIM:178995 |
| Striae Distensae, Familial |
|
Striae distensae |
OMIM:185200 |
| Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
| Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Soft, doughy skin, Bruising susceptibility, Soft skin, Recurrent joint dislocation, Congenital hi... |
OMIM:130010 |
| Trichorhinophalangeal Syndrome, Type I |
|
Sparse hair, Delayed eruption of teeth, Microdontia, Carious teeth, Pectus carinatum, Coxa magna,... |
OMIM:190350 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Hypergranulosis, Orthokeratotic hyperkeratosis |
OMIM:615598 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Lower limb muscle weakness, Cough, Respiratory failure requiring assisted v... |
ORPHA:90117 |
| Atkin-Flaitz Syndrome |
|
Kyphosis, Maxillary lateral incisor microdontia, Genu recurvatum, Prominent median palatal raphe,... |
OMIM:300431 |
| Classic Phenylketonuria |
|
Growth delay, Lack of skin elasticity, Hypopigmentation of hair |
ORPHA:79254 |
| Ovarian Fibrothecoma |
|
Abnormal endometrium morphology, Metrorrhagia, Gonadal calcification, Ovarian fibroma, Abnormalit... |
ORPHA:314478 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Congenital muscular dystrophy, Facial palsy, Increased variability in muscle fiber diameter, Flex... |
OMIM:616470 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Short stature, Down-sloping shoulders, Stridor, Scoliosis, Hand muscle atrophy, Shoulder girdle m... |
OMIM:606071 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Flexion contracture, Generalized weakness of limb muscles, Limb-girdle muscle weakness, Scapular ... |
ORPHA:353327 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Facial diplegia, EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness, Ge... |
OMIM:609560 |
| Sandestig-Stefanova Syndrome |
|
High palate, Retrognathia, Sparse medial eyebrow, Highly arched eyebrow, Laterally extended eyebr... |
OMIM:618804 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Skeletal muscle atrophy, Type 1 muscle fiber predominance |
OMIM:618276 |
| Bethlem Myopathy |
|
Multiple joint contractures, Quadriceps muscle weakness, Scapular winging, Achilles tendon contra... |
ORPHA:610 |
| Atypical Werner Syndrome |
|
Telangiectasia of the skin, Progeroid facial appearance, Alopecia, Lack of skin elasticity, Finge... |
ORPHA:79474 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
| Taurodontism, Microdontia, And Dens Invaginatus |
|
Dens in dente, Taurodontia, Microdontia, Pulp calcification |
OMIM:313490 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors |
OMIM:114700 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor, Dyspnea |
ORPHA:228312 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
High palate, Pallor, Micrognathia, Generalized limb muscle atrophy, Distichiasis, Delayed puberty |
OMIM:600462 |
| Acute Myelomonocytic Leukemia |
|
Pallor, Dyspnea, Abnormality of the gingiva |
ORPHA:517 |
| Radio-Renal Syndrome |
|
Respiratory distress, Severe short stature, High, narrow palate, Chylothorax, Retrognathia, Micro... |
ORPHA:3015 |
| Pilodental Dysplasia With Refractive Errors |
|
Sparse scalp hair, Hypodontia, Brittle hair, Follicular hyperkeratosis, Brittle scalp hair, Conic... |
OMIM:262020 |
| Nemaline Myopathy 11, Autosomal Recessive |
|
Nemaline bodies, Facial palsy, Scapular winging, Type 1 muscle fiber predominance |
OMIM:617336 |
| Juberg-Hayward Syndrome |
|
Abnormal eyebrow morphology, Intrauterine growth retardation, Abnormality of finger, Severe short... |
ORPHA:2319 |
| Laing Early-Onset Distal Myopathy |
|
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... |
ORPHA:59135 |
| Coffin-Siris Syndrome 3 |
|
Sparse scalp hair, Wide mouth, Hypertrichosis, Hirsutism, Thick eyebrow, Sparse hair, Macroglossi... |
OMIM:614608 |
| Tetrasomy 5P |
|
High palate, Respiratory distress, Overlapping toe, Pectus excavatum, Clinodactyly of the 5th fin... |
ORPHA:3309 |
| Leopard Syndrome 3 |
|
Short stature, Short neck, Shield chest, Dry skin, Hyperkeratosis, Cubitus valgus, Epidermal hype... |
OMIM:613707 |
| Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
| Acute Peripheral Arterial Occlusion |
|
Pallor, Limb muscle weakness |
ORPHA:90064 |
| Phosphoserine Aminotransferase Deficiency |
|
Apnea, Death in infancy, Cyanotic episode |
OMIM:610992 |
| Hallermann-Streiff Syndrome |
|
High palate, Pectus excavatum, Sparse hair, Sparse eyebrow, Decreased number of sternal ossificat... |
OMIM:234100 |
| Fibromatosis, Gingival, With Distinctive Facies |
|
High palate, Persistence of primary teeth, Thick eyebrow, Everted lower lip vermilion, Gingival f... |
OMIM:228560 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Arthrogryposis-like hand anomaly, Diaphragmatic eventration, Foot dorsiflexor weakness, Fiber typ... |
OMIM:620011 |
| Melnick-Needles Syndrome |
|
Cone-shaped epiphyses of the phalanges of the hand, Abnormality of the pubic bone, Delayed erupti... |
ORPHA:2484 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Stillbirth, Short long bone, Scoliosis, Neonatal death, Death in adolescenc... |
OMIM:619751 |
| Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Low anterior hairline, Adducted thumb, Thin vermilion border, Short philtrum, Highly arched eyebr... |
OMIM:618622 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Cutis laxa, Joint subluxation, Lack of skin elasticity, Redundant skin, Respiratory insufficiency... |
ORPHA:90349 |
| Premature Ovarian Failure 6 |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... |
OMIM:612310 |
| Rigid Spine Muscular Dystrophy 1 |
|
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Increased variab... |
OMIM:602771 |
| Coffin-Lowry Syndrome |
|
High palate, Wide mouth, Pectus excavatum, Broad finger, Delayed eruption of teeth, Advanced erup... |
ORPHA:192 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Type 2 muscle fiber atrophy, Type 1 muscle fiber atrophy, Facial palsy, Distal amyotrophy, Ankle ... |
OMIM:617519 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Short metatarsal, Supernumerary tooth, Sparse hair, Cone-shaped epiphyses of the middle phalanges... |
OMIM:190351 |
| Fibrodysplasia Ossificans Progressiva |
|
Clinodactyly of the 5th finger, Alopecia, Short 1st metacarpal, Respiratory insufficiency, Progre... |
OMIM:135100 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Tooth agenesis, Leukonychia, Woolly hair, Erythema, Gingival recession, Hyperkeratosis, Ichthyosi... |
OMIM:615821 |
| Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... |
ORPHA:206546 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Growth delay, Death in childhood, Respiratory insufficiency, Neonatal death, Death in infancy, Re... |
OMIM:245400 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Orofaciodigital Syndrome Iii |
|
Kyphosis, Pectus excavatum, Supernumerary tooth, Short sternum, Bifid tongue, Bifid uvula, Microd... |
OMIM:258850 |
| Clark-Baraitser syndrome |
|
Kyphosis, Maxillary lateral incisor microdontia, Genu recurvatum, Prominent median palatal raphe,... |
OMIM:300602 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Ichthyosis, Hyperkeratosis, Cutaneous photosensitivity, Skin ulcer, Palmoplantar keratoderma, Con... |
ORPHA:312 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor, Difficulty in tongue movements, Spasticity of facial muscles |
OMIM:606353 |
| Craniometadiaphyseal Dysplasia |
|
High palate, Wide anterior fontanel, Broad long bones, Malar flattening, Short stature, Flared me... |
OMIM:269300 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Intrinsic hand muscle atrophy, Type 2 muscle fiber atrophy, Hand muscle atrophy, Lower limb muscl... |
OMIM:601462 |
| Catifa Syndrome |
|
Asthma, Tooth malposition, Cleft palate, Long philtrum, Delayed eruption of teeth, Camptodactyly,... |
OMIM:618761 |
| Isolated Klippel-Feil Syndrome |
|
Sprengel anomaly, Anal atresia, Ectopic anus, Cervical C2/C3 vertebral fusion, Cleft palate, Abno... |
ORPHA:2345 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Pycnodysostosis |
|
High palate, Abnormal clavicle morphology, Abnormality of the dentition, Carious teeth, Rhizomeli... |
ORPHA:763 |
| Intellectual Developmental Disorder, X-Linked 90 |
|
High palate, Narrow chest, Bifid uvula, Malar flattening |
OMIM:300850 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
High palate, Gingival overgrowth, Thick eyebrow, Everted lower lip vermilion, Delayed eruption of... |
ORPHA:2025 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Kyphoscoliosis, Bruising susceptibility, Follicular hyperkeratosis, Hyperextensible skin, Skeleta... |
ORPHA:300179 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
High palate, Kyphosis, Increased endomysial connective tissue, Reduced vital capacity, Flexion co... |
ORPHA:178148 |
| Minicore Myopathy With External Ophthalmoplegia |
|
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... |
OMIM:255320 |
| Benign Samaritan Congenital Myopathy |
|
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers |
ORPHA:324581 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Cutis laxa, Sparse eyebrow, Eclabion, Absent pubic hair, Dry skin, G... |
ORPHA:2269 |
| Flynn-Aird Syndrome |
|
Kyphoscoliosis, Alopecia, Carious teeth, Hyperkeratosis, Alopecia of scalp |
OMIM:136300 |
| Kyphomelic Dysplasia |
|
Narrow chest, Undulate ribs, Anterior rib cupping, Abnormal form of the vertebral bodies, Missing... |
ORPHA:1801 |
| Myasthenic Syndrome, Congenital, 5 |
|
Type 2 muscle fiber atrophy, Limb muscle weakness, Decreased muscle mass, Myopathy |
OMIM:603034 |
| Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... |
OMIM:614324 |
| Myopathy, Mitochondrial, And Ataxia |
|
High palate, Growth delay, Pectus excavatum, Short stature, Pallor, Micrognathia, Increased varia... |
OMIM:617675 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Dislocation of the femoral head, Apnea, Kyphosis, Hyperextensibility of the finger joints, Fronta... |
OMIM:619797 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Macroglossia, Congenital hip dislocation, Dry skin, Delayed eruption of teeth, Wormian bones, Gro... |
OMIM:614450 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Apnea, Flexion contracture, Muscular dystrophy, Respiratory insufficiency, Respiratory failure |
OMIM:613869 |
| Renal Dysplasia-Limb Defects Syndrome |
|
High palate, Respiratory distress, Narrow mouth, Aplasia of the ulna, Short sternum, Short metaca... |
OMIM:266910 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
| Retinohepatoendocrinologic Syndrome |
|
Pallor |
OMIM:268040 |
| Orofacial Cleft 13 |
|
Malar flattening, Retrognathia, Micrognathia, Oligodontia, Cleft soft palate |
OMIM:613857 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Type 1 m... |
OMIM:613954 |
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
Joint dislocation, Soft skin, Osteoarthritis, Striae distensae, Hyperextensible skin |
OMIM:130020 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Narrow chest, Respiratory distress, Short ribs, Hypoplasia of the radius, Hypoplastic ilia, Posta... |
OMIM:617895 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Oral mucosal blisters, Dystrophic toenail, Hyperkeratosis, Palmoplantar hyperkeratosis |
ORPHA:89838 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Rib fusion, Kyphosis, Congenital diaphragmatic hernia, Cleft palat... |
ORPHA:2311 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Cleft palate, Short stature, Alopecia, Unilateral chest hypoplasia, Abnormality o... |
OMIM:308205 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Flexion contracture of finger, Increased endomysial connective tissue, Flexion contracture, Weakn... |
OMIM:618484 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Miscarriage, Absent glenoid fo... |
ORPHA:96334 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Vertebral segmentation defect, Kyphosis, Clinodactyly of the 5th finger, Severe short stature, Sp... |
ORPHA:1005 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:618328 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Sparse hair, Absent eyebrow, Short stature, Hyperkeratosis, Conical tooth, Absent eyelashes, Nail... |
OMIM:618625 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
High palate, Cleft palate, Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th fin... |
OMIM:268305 |
| Rare Circulatory System Disease |
|
Abnormality of finger, Spinal rigidity, Pallor, Abnormal metatarsal morphology, Cyanosis, Enlarge... |
ORPHA:98028 |
| Cyanosis And Hepatic Disease |
|
Dyspnea, Cyanosis, Clubbing |
OMIM:219400 |
| Incontinentia Pigmenti |
|
Sparse hair, Alopecia, Hemivertebrae, Coarse hair, Delayed eruption of teeth, Breast aplasia, Con... |
OMIM:308300 |
| Cholesterol Pneumonia |
|
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia |
OMIM:215030 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... |
OMIM:277300 |
| Coffin-Siris Syndrome 2 |
|
High palate, Wide mouth, Hirsutism, Sparse scalp hair, Thick eyebrow, Low anterior hairline, Clef... |
OMIM:614607 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Facial palsy, Skeletal muscle at... |
OMIM:608931 |
| Schwartz-Jampel Syndrome |
|
High palate, Apnea, Pectus excavatum, Pursed lips, Cleft palate, Abnormally ossified vertebrae, S... |
ORPHA:800 |
| Elsahy-Waters Syndrome |
|
High palate, Pectus excavatum, Impacted tooth, Delayed eruption of teeth, Hypoplasia of the maxil... |
OMIM:211380 |
| Dentinogenesis Imperfecta |
|
Persistence of primary teeth, Fragile teeth, Bruising susceptibility, Generalized hypoplasia of d... |
ORPHA:49042 |
| Autosomal Recessive Centronuclear Myopathy |
|
High palate, Facial diplegia, Narrow mouth, Hip contracture, Retrognathia, Left ventricular hyper... |
ORPHA:169186 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hypodontia, Short stature, Short 1st metacarpal, Delayed eruption of teeth, Hip osteoarthritis, S... |
ORPHA:63442 |
| Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
| Axial Spondylometaphyseal Dysplasia |
|
Mild postnatal growth retardation, Platyspondyly, Upper limb undergrowth, Disproportionate short-... |
ORPHA:168549 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Epiphyseal dysplasia, Kyphoscoliosis, Pectus excavatum, Advanced ossification of carpal bones, Sp... |
OMIM:615349 |
| Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:1354 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter |
OMIM:619065 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Cleft palate, Barrel-shaped chest, Short neck, Platyspondyly, Pectus carina... |
OMIM:183900 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Cleft palate, Craniosynostosis, Breast aplasia, Abnormal epiphysis morpholo... |
ORPHA:2554 |
| Amelogenesis Imperfecta |
|
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... |
ORPHA:88661 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Renpenning Syndrome |
|
Sprengel anomaly, Growth delay, Narrow mouth, Abnormal hairshaft morphology, Severe short stature... |
ORPHA:3242 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Short stature |
ORPHA:2435 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Congenital nonbullous ichthyosiform erythroderma, Short toe, Congenital ichthyosiform erythroderm... |
OMIM:242100 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Pallor |
ORPHA:71518 |
| Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... |
OMIM:310300 |
| Myhre Syndrome |
|
Sparse hair, Cleft palate, Short philtrum, Short neck, Birth length less than 3rd percentile, Pla... |
OMIM:139210 |
| Cohen Syndrome |
|
Thoracic scoliosis, Macrodontia of permanent maxillary central incisor, High, narrow palate, Thic... |
OMIM:216550 |
| Adducted Thumbs Syndrome |
|
High palate, Hypertrichosis, Velopharyngeal insufficiency, High, narrow palate, Cleft palate, Cra... |
OMIM:201550 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Hypergonadotropic hypogonadism, Streak ovary |
OMIM:241090 |
| Pycnodysostosis |
|
Narrow palate, Persistence of primary teeth, Hypodontia, Spondylolisthesis, Short stature, Spondy... |
OMIM:265800 |
| Short Rib-Polydactyly Syndrome |
|
Cleft palate, Cone-shaped epiphysis, Bowing of the long bones, Respiratory failure, Short long bo... |
ORPHA:1505 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Anal atresia, Tooth agenesis, Short stature, Micrognathia, Camptodactyly of finger, ... |
ORPHA:2863 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Diaphragmatic eventration, Camptodactyly of finger, Distal amyotrophy, Spinal muscular atrophy, T... |
OMIM:604320 |
| Anauxetic Dysplasia 3 |
|
Pectus excavatum, Femoral bowing, Platyspondyly, Genu valgum, Hip subluxation, Broad middle phala... |
OMIM:618853 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Musc... |
OMIM:226670 |
| Orofaciodigital Syndrome Type 5 |
|
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... |
ORPHA:2919 |
| Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619203 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
High palate, Vertebral segmentation defect, Butterfly vertebrae, Postnatal growth retardation, Cl... |
OMIM:611209 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Narrow mouth, Cleft palate, Short stature, Thin vermilion border, Long philtrum, Long eyelashes, ... |
OMIM:615502 |
| X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Weakness of facial musculature, Centrally nucleated skeletal mus... |
ORPHA:596 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Limb-girdle muscular dystrophy, Myopathy, Muscular dystrophy |
ORPHA:369840 |
| Mosaic Trisomy 14 |
|
High palate, Wide mouth, Narrow chest, Ectopic anus, Cleft palate, Micrognathia, Camptodactyly of... |
ORPHA:1703 |
| Intellectual Developmental Disorder, Autosomal Dominant 62 |
|
Arachnodactyly, Striae distensae, Scoliosis |
OMIM:618793 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Kyphoscoliosis, Severe short stature, Malar flattening, Cleft palate, Alopecia, Micrognathia, Res... |
OMIM:215100 |
| Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Short distal phalanx of finger, Abnormal hair morphology, To... |
ORPHA:2963 |
| Emanuel Syndrome |
|
High palate, Multiple joint contractures, Cleft palate, Congenital hip dislocation, Abnormality o... |
ORPHA:96170 |
| Proximal Spinal Muscular Atrophy |
|
Facial diplegia, Multiple joint contractures, Weakness of facial musculature, Quadriceps muscle w... |
ORPHA:70 |
| Femoral-Facial Syndrome |
|
Sprengel anomaly, Rib fusion, Vertebral segmentation defect, Preaxial foot polydactyly, Aplasia/H... |
ORPHA:1988 |
| Frank-Ter Haar Syndrome |
|
Wide mouth, Gingival overgrowth, Premature loss of teeth, Kyphosis, Beaking of vertebral bodies, ... |
ORPHA:137834 |
| Thanatophoric Dysplasia, Type Ii |
|
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... |
OMIM:187601 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Cleft palate, Diastema, Microdontia, Brachydactyly, Radioulnar synostosis, Syn... |
OMIM:605282 |
| Myopathy, Myosin Storage, Autosomal Recessive |
|
EMG: myopathic abnormalities, Calf muscle hypertrophy, Limb-girdle muscle weakness, Type 1 muscle... |
OMIM:255160 |
| Orofacial Cleft 15 |
|
Sparse eyebrow, Sparse eyelashes, Agenesis of lateral incisor, Bilateral cleft palate, Palate fis... |
OMIM:616788 |
| Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Kyphosis, Patchy alopecia, Short mandibular rami, Poliosis, Delayed eruption... |
OMIM:141300 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Orthokeratosis, Hypodontia, Sparse hair, Sparse eyelashes, Alopecia, Oligodontia, Dry skin, Ename... |
OMIM:607626 |
| Thoracolaryngopelvic Dysplasia |
|
Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Scoliosis, Bell-sha... |
OMIM:187760 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
High palate, Supernumerary tooth, Thick eyebrow, Brittle hair, Short stature, Thin vermilion bord... |
OMIM:617412 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... |
ORPHA:401768 |
| Hypokalemic Periodic Paralysis |
|
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology |
ORPHA:681 |
| Epidermolytic Palmoplantar Keratoderma |
|
Palmar hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Camptoda... |
ORPHA:2199 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Poor wound healing, Neuropathic arthropathy, Foot dorsiflexor weakness, Cough, Distal amyotrophy,... |
ORPHA:36386 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Progressive distal mu... |
OMIM:181405 |
| Chime Syndrome |
|
Sparse hair, Cleft palate, Abnormality of the dentition, Short philtrum, Microdontia, Abnormal ep... |
ORPHA:3474 |
| Myopathy, Myofibrillar, 7 |
|
Multiple joint contractures, Nemaline bodies, Flexion contracture, Z-band streaming, Increased va... |
OMIM:617114 |
| Noonan Syndrome 8 |
|
Abnormal sternum morphology, Short stature, Left ventricular hypertrophy, Palmoplantar cutis laxa... |
OMIM:615355 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Genu valgum... |
ORPHA:2972 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Wide mouth, Flexion contracture, Retrognathia, Short philtrum, Camptodactyly of finger, Respirato... |
ORPHA:1194 |
| Mucopolysaccharidosis, Type Iva |
|
Wide mouth, Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beakin... |
OMIM:253000 |
| Irida Syndrome |
|
Pallor, Abnormal intestine morphology, Hyperkeratosis, Ichthyosis |
ORPHA:209981 |
| Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Short hallux, Oligodontia of primary teeth, Sandal gap, Cleft soft palate |
OMIM:216300 |
| Apnea, Central Sleep |
|
