Spinal Muscular Atrophy, Type Iv |
|
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Hand tremor, Calf musc... |
OMIM:271150 |
Tibial Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... |
ORPHA:609 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... |
OMIM:617158 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Loss of ambulation, Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle... |
OMIM:254110 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Loss of ambulation, Increased endomysial connective tissue, Proximal muscle weakness in lower lim... |
OMIM:615424 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... |
OMIM:618655 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Proximal lower limb amyotrophy,... |
OMIM:158600 |
Myopathy, Myosin Storage, Autosomal Dominant |
|
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... |
OMIM:608358 |
Gne Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... |
ORPHA:602 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
Polyglucosan Body Myopathy 2 |
|
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... |
OMIM:616199 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... |
OMIM:619733 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... |
OMIM:601954 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in lower limbs, Scapular winging, Increased variability in muscle fiber ... |
OMIM:301075 |
Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Gait disturbance, Deposits immu... |
OMIM:605820 |
Hereditary Myopathy With Early Respiratory Failure |
|
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... |
ORPHA:178464 |
Tubular Aggregate Myopathy |
|
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... |
ORPHA:2593 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... |
OMIM:608423 |
Central Core Disease Of Muscle |
|
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... |
OMIM:117000 |
Vacuolar Neuromyopathy |
|
Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Muscle fiber splitting, Shoulder ... |
OMIM:601846 |
Distal Myopathy, Welander Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Foot dorsiflexor we... |
ORPHA:603 |
Welander Distal Myopathy |
|
Rimmed vacuoles, Steppage gait, Distal amyotrophy |
OMIM:604454 |
Nemaline Myopathy 2 |
|
High palate, Inability to walk, Cleft palate, Weakness of facial musculature, Increased variabili... |
OMIM:256030 |
Myopathy, Scapulohumeroperoneal |
|
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... |
OMIM:616852 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased variability i... |
ORPHA:86812 |
Myopathy, Centronuclear, 1 |
|
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... |
OMIM:160150 |
Myopathy, Congenital Proximal, With Minicore Lesions |
|
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Tongue fasciculations, Fat... |
OMIM:618823 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased endomysial connective tissue, Inability to walk, EMG: myopathic abnormalities, Increase... |
ORPHA:266 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Gait dis... |
ORPHA:1878 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Intrinsic hand muscle atrophy, Inability to walk, Proximal muscle weakness in lower limbs, EMG: m... |
ORPHA:276435 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder... |
OMIM:613530 |
Proximal Myopathy With Extrapyramidal Signs |
|
Ataxia, Resting tremor, Increased variability in muscle fiber diameter, Difficulty walking, Centr... |
ORPHA:401768 |
Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... |
ORPHA:611 |
Myofibrillar Myopathy 11 |
|
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... |
OMIM:619178 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Increased endomysial connective tissue, Scapular winging, Increased variability in muscle fiber d... |
ORPHA:437572 |
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 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Loss of ambulation, Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in m... |
ORPHA:34516 |
Myopathy, Myofibrillar, 5 |
|
Waddling gait, Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusio... |
OMIM:609524 |
Rigid Spine Muscular Dystrophy 1 |
|
High palate, Loss of ambulation, Increased endomysial connective tissue, Flexion contracture, Mus... |
OMIM:602771 |
X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, High palate, Inability to walk, Weakness of facial musculature, ... |
ORPHA:596 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Loss of ambulation, EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in mu... |
OMIM:253601 |
Mitochondrial Myopathy With Diabetes |
|
Ataxia, EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fib... |
OMIM:500002 |
Autosomal Recessive Centronuclear Myopathy |
|
Facial diplegia, Hip contracture, High palate, Narrow mouth, Talipes equinovarus, Left ventricula... |
ORPHA:169186 |
Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy |
OMIM:617030 |
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 25 |
|
Muscle fiber necrosis, Loss of ambulation, Muscular dystrophy, Increased variability in muscle fi... |
OMIM:616812 |
Myopathy, Centronuclear, 2 |
|
High palate, Talipes equinovarus, Flexion contracture, EMG: myopathic abnormalities, Scapular win... |
OMIM:255200 |
Oculopharyngodistal Myopathy 2 |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... |
OMIM:618940 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Waddling gait, Unsteady gait, Li... |
OMIM:612937 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
High palate, Loss of ambulation, EMG: myopathic abnormalities, Calf muscle hypertrophy, Limb-gird... |
OMIM:255160 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Lower lim... |
OMIM:616924 |
Minicore Myopathy With External Ophthalmoplegia |
|
High palate, Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter,... |
OMIM:255320 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
High palate, Muscular dystrophy, Centrally nucleated skeletal muscle fibers |
OMIM:617066 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... |
ORPHA:399058 |
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 Recessive 27 |
|
Loss of ambulation, Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weaknes... |
OMIM:619566 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Flexion contracture of finger, Increased endomysial connective tissue, Talipes equinovarus, Flexi... |
OMIM:618484 |
Nemaline Myopathy 6 |
|
Gait disturbance, Nemaline bodies, Limb muscle weakness, Myopathy |
OMIM:609273 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, ... |
ORPHA:280333 |
Oculopharyngodistal Myopathy 4 |
|
High palate, Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fib... |
OMIM:619790 |
Oculopharyngodistal Myopathy 3 |
|
Ataxia, Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weak... |
OMIM:619473 |
Salih Myopathy |
|
Flexion contracture, Calf muscle hypertrophy, Facial palsy, Centrally nucleated skeletal muscle f... |
OMIM:611705 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, EM... |
ORPHA:399086 |
Nemaline Myopathy 4 |
|
Facial diplegia, Nemaline bodies, High palate, Flexion contracture, Type 1 muscle fiber predomina... |
OMIM:609285 |
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 |
Adult-Onset Nemaline Myopathy |
|
High palate, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased variab... |
ORPHA:171442 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance... |
OMIM:619042 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... |
OMIM:613204 |
Dystonia 31 |
|
Leg dystonia, Craniofacial dystonia, Writer's cramp, Difficulty walking, Abnormal posturing, Arm ... |
OMIM:619565 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
High palate, Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal musc... |
OMIM:618654 |
Miyoshi Muscular Dystrophy 1 |
|
Tip-toe gait, Muscular dystrophy, Lower limb muscle weakness, Distal amyotrophy, Deposits immunor... |
OMIM:254130 |
Myopathy, Distal, 1 |
|
High palate, Amyotrophy of ankle musculature, Tip-toe gait, Toe extensor amyotrophy, Rimmed vacuo... |
OMIM:160500 |
Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
Benign Samaritan Congenital Myopathy |
|
Centrally nucleated skeletal muscle fibers, Narrow mouth, Internally nucleated skeletal muscle fi... |
ORPHA:324581 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Broad-based gait, Increased endomysial connective tissue, Macroglossia, Right ventricular hypertr... |
ORPHA:353 |
Marinesco-Sjogren Syndrome |
|
Ataxia, Coxa valga, Flexion contracture, Limb ataxia, Rimmed vacuoles, Gait ataxia, Centrally nuc... |
OMIM:248800 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles, Steppage gait |
OMIM:600334 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
High palate, Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Increa... |
ORPHA:486815 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:300717 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Gait disturbance, Muscle fiber splitting, Scapular winging, Myopathy, Proximal amyotrophy |
OMIM:618129 |
Muscular Dystrophy, Congenital, Merosin-Positive |
|
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... |
OMIM:609456 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber necrosis, Loss of ambulation, Increased endomysial connective tissue, Flexion contra... |
OMIM:253700 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy, Open mouth |
OMIM:616816 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... |
OMIM:300696 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Myopathy, Congenital, With Fiber-Type Disproportion |
|
High palate, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Limb joint contra... |
OMIM:255310 |
Myasthenic Syndrome, Congenital, 14 |
|
High palate, Flexion contracture, Limb-girdle muscle weakness, Ragged-red muscle fibers, Waddling... |
OMIM:616228 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variability in muscle fiber diamet... |
OMIM:603689 |
Myopathy, Myofibrillar, 8 |
|
High palate, Nemaline bodies, Dental malocclusion, Scapular winging, Joint contracture of the 5th... |
OMIM:617258 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Loss of ambulation, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Rimmed vacuoles, Pelv... |
OMIM:167320 |
Myopathy, Distal, 3 |
|
Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles,... |
OMIM:610099 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
High palate, Muscle fiber necrosis, Talipes equinovarus, Cleft palate, EMG: myopathic abnormaliti... |
OMIM:614399 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Intrinsic hand muscle atrophy, Foot dorsiflexor weakness, Tremor, Clubbing of fingers, Centrally ... |
OMIM:619574 |
Distal Myopathy, Tateyama Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... |
ORPHA:488650 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Slender fi... |
ORPHA:75840 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy, Waddling gait |
OMIM:617760 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Shoulder girdle muscle weakness, Weakness of facial musculature, Angulated muscle fibers, Scapula... |
OMIM:619477 |
Zebra Body Myopathy |
|
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... |
ORPHA:97240 |
Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, ... |
OMIM:609200 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Loss of ambulation, Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscl... |
OMIM:603511 |
Childhood-Onset Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, High palate, Flexion contracture, EMG: myopathic abnormalities,... |
ORPHA:171439 |
Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased intramyocellular lipid droplets, Ataxia, Increased variability in muscle fiber diameter... |
OMIM:619065 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy |
OMIM:616209 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Calf muscle... |
OMIM:618138 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... |
ORPHA:169189 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricular canal defect, Cryptorchid... |
DECIPHER:39 |
Bethlem Myopathy 2 |
|
Myopathy, Scapular winging, Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:616471 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Increased intramyocellul... |
ORPHA:457050 |
King-Denborough Syndrome |
|
High palate, Muscle fiber atrophy, Weakness of facial musculature, Minicore myopathy, Type 1 musc... |
OMIM:619542 |
Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter |
OMIM:611615 |
Distal Myotilinopathy |
|
Multiple joint contractures, EMG: myopathic abnormalities, Loss of ability to walk in first decad... |
ORPHA:98911 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
High palate, Nemaline bodies, Ulnar claw, Flexion contracture, Foot dorsiflexor weakness, Distal ... |
OMIM:607684 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Skeletal muscle autophagosome accumulation, Rimmed vacuoles, Loss of ambulation, Centrally nuclea... |
OMIM:619518 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Broad-based gait, Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic... |
ORPHA:119 |
Myopathy, Proximal, With Ophthalmoplegia |
|
High palate, Muscle fiber inclusion bodies, Waddling gait, Scapular winging, Congenital contractu... |
OMIM:605637 |
Merrf |
|
Ragged-red muscle fibers, Ataxia, Myopathy |
ORPHA:551 |
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 |
Myopathy, Myofibrillar, 7 |
|
Multiple joint contractures, Nemaline bodies, Talipes equinovarus, Flexion contracture, Z-band st... |
OMIM:617114 |
Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... |
OMIM:160565 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Tongue fasciculations, Increased variability in muscle fiber diameter, Skeletal muscle atrophy |
ORPHA:238329 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Dysmetria, Dysdiadochokinesis, Fiber type grouping, Interosseus muscle atrophy, Thenar muscle atr... |
OMIM:619903 |
Distal Nebulin Myopathy |
|
High palate, Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foot ... |
ORPHA:399103 |
Oculopharyngeal Muscular Dystrophy |
|
Ragged-red muscle fibers, Rimmed vacuoles, Abnormal muscle fiber morphology, Myopathy |
ORPHA:270 |
Arthrogryposis, Distal, Type 1C |
|
High palate, Hip contracture, Narrow mouth, Clinodactyly of the 5th finger, Talipes equinovarus, ... |
OMIM:619110 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy |
OMIM:609500 |
Ullrich Congenital Muscular Dystrophy 2 |
|
High palate, Flexion contracture, Increased variability in muscle fiber diameter, Congenital musc... |
OMIM:616470 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Limb-girdle muscle weakness, Difficu... |
OMIM:613818 |
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 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Facial diplegia, Nemaline bodies, High palate, Hypertrophied muscle fibers, Flexion contracture, ... |
ORPHA:98905 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ragged-red muscle fibers, Ataxia, Myopathy |
OMIM:545000 |
Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Akinesia, Adducted thumb, Increased variability in muscle fiber diameter, Neonat... |
OMIM:619334 |
Hereditary Continuous Muscle Fiber Activity |
|
Type 1 muscle fiber predominance, Ataxia, Spastic gait, Congenital diaphragmatic hernia |
ORPHA:972 |
Laing Early-Onset Distal Myopathy |
|
High palate, Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: m... |
ORPHA:59135 |
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 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Talipes equinovarus, Joint contracture of the hand, Flexion contract... |
ORPHA:536516 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... |
ORPHA:34515 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Muscular dystrophy, Increased endomysial connective tissue, Ankle flexion contracture, Flexion co... |
OMIM:617072 |
Nemaline Myopathy 11, Autosomal Recessive |
|
High palate, Nemaline bodies, Talipes equinovarus, Scapular winging, Type 1 muscle fiber predomin... |
OMIM:617336 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Tongue fasciculations, Skeletal muscle atrophy |
OMIM:300816 |
Myotubular Myopathy With Abnormal Genital Development |
|
High palate, Centrally nucleated skeletal muscle fibers, Neonatal death, Myopathy |
OMIM:300219 |
Nemaline Myopathy 5 |
|
Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Tremor, Sho... |
OMIM:605355 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
High palate, Flexion contracture, Generalized weakness of limb muscles, Limb-girdle muscle weakne... |
ORPHA:353327 |
Amyotrophic Lateral Sclerosis 21 |
|
Hand muscle weakness, Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder g... |
OMIM:606070 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Loss of ambulation, Hypoglycosylation of alpha-dystroglycan, Macroglossia, Proximal muscle weakne... |
ORPHA:352479 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers |
OMIM:609283 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Muscle fiber necrosis, Ataxia, Dysmetria, Weakness of facial musculature, Scapu... |
OMIM:607459 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Mus... |
OMIM:613157 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
High palate, Talipes equinovarus, Arthrogryposis-like hand anomaly, Diaphragmatic eventration, Fo... |
OMIM:620011 |
Myopathy, Myofibrillar, 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... |
OMIM:608810 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Gait disturbance, Ataxia, Increased variability in muscle fiber diameter, Myopathy |
OMIM:125250 |
Multiminicore Myopathy |
|
Abnormal muscle fiber morphology, Proximal muscle weakness in lower limbs, Minicore myopathy, Con... |
ORPHA:598 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Oromandibular dystonia, Inability to walk, Blepharospas... |
OMIM:128100 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Ataxia, Inability to walk, Hypoglycosylation of alpha-dystroglycan, Cleft palate, Muscular dystrophy |
OMIM:615350 |
Cap Myopathy |
|
High palate, Abnormal muscle fiber morphology, Tip-toe gait, Increased variability in muscle fibe... |
ORPHA:171881 |
Intermediate Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, High, narrow palate, Flexion contracture, EMG: myopathic abnorm... |
ORPHA:171433 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Muscle fiber necrosis, High palate, Talipes equinovarus, Flexion contracture, Increa... |
OMIM:254090 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Dysmetria, Tremor, Type 2 muscle fiber predominance, Impaired tandem gait |
OMIM:619028 |
Typical Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, High palate, Flexion contracture, Increased variability in musc... |
ORPHA:171436 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Cari... |
OMIM:226670 |
Native American Myopathy |
|
High palate, Muscle fiber atrophy, Inability to walk, Talipes equinovarus, Cleft palate, Submucou... |
ORPHA:168572 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Muscle fiber necrosis, Muscle fiber atrophy, Limb ataxia, Intention tremor, Weakness of facial mu... |
OMIM:258450 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers, Difficulty walking, Lingual dystonia, Paroxysmal choreoathetosis |
OMIM:500003 |
Cutis Laxa-Marfanoid Syndrome |
|
Abnormal heart valve morphology, Limitation of joint mobility, Congenital diaphragmatic hernia, F... |
ORPHA:171719 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Broad-based gait, Tal... |
OMIM:181405 |
Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Congenital contracture, Flexion contracture |
OMIM:615368 |
Amish Nemaline Myopathy |
|
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Tremor, Shoulder... |
ORPHA:98902 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Type 1 muscle fiber... |
ORPHA:424107 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Facial diplegia, Inability to walk, EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb ... |
OMIM:609560 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower limb muscle w... |
ORPHA:397744 |
Glycogen Storage Disease Ixd |
|
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... |
OMIM:300559 |
Zimmermann-Laband Syndrome 3 |
|
High palate, Short distal phalanx of finger, Gingival overgrowth, Long hallux, Absent distal phal... |
OMIM:618658 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
High palate, Hip contracture, Abnormal muscle fiber morphology, Weakness of facial musculature, S... |
ORPHA:1145 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Muscular dystrophy, Truncal ataxia, Difficulty walking, Waddling gait, Limb... |
ORPHA:369840 |
Bethlem Myopathy |
|
Multiple joint contractures, Quadriceps muscle weakness, Difficulty walking, Achilles tendon cont... |
ORPHA:610 |
Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia |
OMIM:306950 |
Myopathy, Mitochondrial, And Ataxia |
|
High palate, Ataxia, Inability to walk, Limb ataxia, Dysmetria, Dysdiadochokinesis, Increased var... |
OMIM:617675 |
Amyotrophic Lateral Sclerosis 20 |
|
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles |
ORPHA:263494 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Loss of ambulation, Decreased cervical spine flexion due to contractures of posterior cervical mu... |
OMIM:310300 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
High palate, Axial dystonia, Flexion contracture, Increased variability in muscle fiber diameter,... |
OMIM:619026 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
High palate, Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased... |
ORPHA:254864 |
Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers, Ataxia, Skeletal muscle atrophy |
ORPHA:480 |
Spinocerebellar Ataxia 28 |
|
Limb ataxia, Ragged-red muscle fibers, Gait ataxia, Lower limb hypertonia, Dystonia |
OMIM:610246 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Art... |
OMIM:616867 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial fibr... |
OMIM:612158 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Facial diplegia, Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Fo... |
ORPHA:329478 |
Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:613642 |
Mitochondrial Myopathy, Infantile, Transient |
|
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... |
OMIM:500009 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:617070 |
Central Core Disease |
|
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Talipes equi... |
ORPHA:597 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Hand muscle weakness, Muscle fiber atrophy, Ataxia, Action tremor, Scapular winging, Ragged-red m... |
ORPHA:254886 |
Spastic Paraplegia 81, Autosomal Recessive |
|
Inability to walk, Bifid uvula, Cleft palate |
OMIM:618768 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers, Difficulty walking |
OMIM:619024 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Oromandibular dystonia, Ataxia, Muscle fiber atrophy, Lower-limb joint contracture, Inability to ... |
ORPHA:300605 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Dental malocclusion, Dislocated radial head, Flat capital femoral epiphysis, Joint c... |
OMIM:612350 |
Myopathy, Myofibrillar, 4 |
|
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting |
OMIM:609452 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
High palate, Increased endomysial connective tissue, Flexion contracture, Minicore myopathy, Clin... |
ORPHA:178148 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Left ventricular hypertrophy, Endocardial fibrosis, Left ventricular nonc... |
OMIM:601493 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormality of the tongue, Inability to walk, Opisthotonus, Tip-toe gait, Gait disturbance, Abnor... |
ORPHA:216866 |
Temple Syndrome |
|
High palate, Cleft palate, Flexion contracture, Small hand, Short philtrum, Bifid uvula, Clinodac... |
OMIM:616222 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Muscle fiber necrosis, Resting tremor, EMG: myopathic abnormalities, Increased variability in mus... |
OMIM:157640 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion contracture |
OMIM:607855 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Ileus, Flexion contracture, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variabilit... |
OMIM:613327 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... |
ORPHA:98855 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
High palate, Increased muscle glycogen content, Progressive cerebellar ataxia, Dysmetria, EMG: my... |
ORPHA:502423 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Fa... |
ORPHA:52430 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Partial duplication of the distal phalanx of the hallux, Bifid uvula, Broad hallux, Abnormal thum... |
ORPHA:2669 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Delayed skeletal maturation |
OMIM:618117 |
Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615396 |
Arthrogryposis, Distal, Type 3 |
|
High palate, Overlapping toe, Talipes equinovarus, Cleft palate, Camptodactyly of toe, Camptodact... |
OMIM:114300 |
Moebius Syndrome |
|
Facial diplegia, High palate, Talipes equinovarus, Abnormality of the dentition, Dysdiadochokines... |
OMIM:157900 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Flexion contracture, Left ventricular noncompaction, Truncal ataxia, Increased intramyoce... |
OMIM:252011 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
High palate, Narrow mouth, Muscle fiber atrophy, Flexion contracture, Diaphragmatic eventration, ... |
OMIM:616866 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Inflammatory ... |
OMIM:123320 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Gait disturbance, Titubation, Gait ataxia, Dystonia, Hypomimic face, Abnormal pos... |
ORPHA:225147 |
Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Short distal phalanx of the thumb, Partial duplication of the distal phalanx of the hallux, Bifid... |
OMIM:256200 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Narrow palate, High, narrow palate, Right ventricular hypertrophy, Increased variability in muscl... |
OMIM:612949 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue |
ORPHA:663 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Short hallux, Oligodontia of primary teeth, Sandal gap, Cleft soft palate |
OMIM:216300 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... |
ORPHA:98853 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Torticollis, High, narrow palate, Slender finger, Cutaneous syndactyly of toes, Bifid uvula, Smal... |
ORPHA:2872 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
High palate, Clinodactyly of the 5th finger, Cleft palate, Abnormality of the dentition, Long phi... |
ORPHA:576283 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Ragged-red muscle fibers, Dystonia, Cleft palate |
OMIM:614924 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Thin upper lip vermilion, Increased variability in muscle fiber diameter, Long philtrum, Type 2 m... |
OMIM:619173 |
Limb-Mammary Syndrome |
|
Hypodontia, Joint contracture of the hand, Cleft palate, Split foot, Syndactyly, Bifid uvula, Cam... |
OMIM:603543 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers |
OMIM:616794 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Camptodactyly of finger, Bifid uvula, Cleft palate, Submucous cleft hard palate |
ORPHA:2521 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Delayed skeletal maturation |
OMIM:617690 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... |
ORPHA:168563 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Osteopenia, Hypogonadotropic hypogonadism, Decreased testic... |
OMIM:614837 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Dystonia, Abnormal posturing |
OMIM:304700 |
Orofaciodigital Syndrome Type 5 |
|
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... |
ORPHA:2919 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Ragged-red muscle fibers, Malabsorption, Ataxia |
OMIM:613662 |
Oculopharyngodistal Myopathy 1 |
|
High palate, Ataxia, EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in musc... |
OMIM:164310 |
Classic Multiminicore Myopathy |
|
High palate, Multiple joint contractures, Muscle fiber atrophy, Right ventricular hypertrophy, We... |
ORPHA:324604 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Weakness of facial musculature, Increased variability in muscle fiber diameter, Tongue fasciculat... |
OMIM:619461 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Facial diplegia, 2-3 toe syndactyly, Dysmetria, Adducted thumb, Short philtrum, Long philtrum, Bi... |
OMIM:619121 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers, Upper limb postural tremor |
ORPHA:477774 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Thin vermilion border, Long philtrum, Bifid uvula |
OMIM:615942 |
Intellectual Developmental Disorder, X-Linked 90 |
|
High palate, Bifid uvula |
OMIM:300850 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Brachydactyly, Genu valgum, Cleft hard palate, Rhizomelia, Knee flexion c... |
ORPHA:166016 |
Greig Cephalopolysyndactyly Syndrome |
|
Abnormal muscle fiber morphology, Joint contracture of the hand, Camptodactyly of toe, Broad hall... |
OMIM:175700 |
Chromosome 17Q12 Duplication Syndrome |
|
Facial hypotonia, Cleft soft palate, Brachydactyly, Broad thumb, Esophageal atresia, Smooth philtrum |
OMIM:614526 |
Burn-Mckeown Syndrome |
|
Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Cleft palate, Thin vermilion border, Short phi... |
OMIM:608572 |
Congenital Disorder Of Glycosylation, Type Id |
|
High palate, Talipes equinovarus, Joint contracture of the hand, Flexion contracture, Adducted th... |
OMIM:601110 |
Spastic Paraplegia Type 7 |
|
Lower limb muscle weakness, Ragged-red muscle fibers, Lower limb hypertonia, Spastic gait, Upper ... |
ORPHA:99013 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Short distal phalanx of finger, Wide mouth, Dental malocclusion, Gingival overgrowth, Triangular ... |
OMIM:616331 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Skeletal muscle hypertrophy, Advanced eruption of teeth, Myopathy, Abnormality of skeletal muscle... |
ORPHA:2348 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Short distal phalanx of finger, Short toe, Aplasia/Hypoplasia of the distal phalanges of the toes... |
ORPHA:3201 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Abnormality of the extraocular muscles, Abnormalit... |
ORPHA:600 |
Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Auriculocondylar Syndrome 3 |
|
Glossoptosis, Bifid uvula |
OMIM:615706 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Cleft palate |
OMIM:258320 |
Stickler Syndrome, Type Ii |
|
High, narrow palate, Cleft palate, Arachnodactyly, Bifid uvula, Long fingers, Pierre-Robin sequence |
OMIM:604841 |
Huntington Disease-Like 1 |
|
Gait disturbance, Gait ataxia, Dysmetria, Abnormal posturing |
ORPHA:157941 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Muscle fiber atrophy, EMG: myopathic abnormalities, Exercise-induced rhabdomyolysis, Skeletal myo... |
ORPHA:57 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Fiber type grouping, Interosseus muscle atrophy, Difficulty walking, Thenar muscle atrophy, Dista... |
OMIM:500013 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Bifid uvula, Cleft palate |
ORPHA:506353 |
Leydig Cell Hypoplasia |
|
Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... |
ORPHA:755 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit |
OMIM:119300 |
Oculofaciocardiodental Syndrome |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Tooth malposition, Cleft palate, Flexion cont... |
ORPHA:2712 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Adducted thumb, Thin vermilion border, Short philtrum, Bifid uvula, Deep philtrum, Bilateral clef... |
OMIM:618622 |
Pparg-Related Familial Partial Lipodystrophy |
|
Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Myopathy, Abnormality of skeletal mus... |
ORPHA:79083 |
Cri-Du-Chat Syndrome |
|
Diastasis recti, High palate, Short philtrum, Anterior open-bite malocclusion, Bifid uvula, Synda... |
OMIM:123450 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Intestinal pseudo-obstruction, Ragged-red muscle fibers, Increased variability in muscle fiber di... |
ORPHA:70595 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Short femoral... |
ORPHA:93316 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal muscle fiber morphology, Clinodactyly of the 5th finger, Tracheoesophageal fistula, Abno... |
ORPHA:3068 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Hypoplasia of the uterus, Gonadal dysgenesis, Ambiguous genitalia, Penoscrotal hypo... |
OMIM:612965 |
Anencephaly 2 |
|
Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla |
OMIM:619452 |
Hypokalemic Periodic Paralysis |
|
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology |
ORPHA:681 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
High palate, Wide mouth, Dental crowding, Falls, Protruding tongue, Thick vermilion border, Facia... |
OMIM:618106 |
Sandifer Syndrome |
|
Torticollis, Hiatus hernia, Esophagitis, Abnormal posturing |
ORPHA:71272 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Ragged-red muscle fibers, Left ventricular hypertrophy, Myopathy |
OMIM:540000 |
Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Coffin-Siris Syndrome 11 |
|
High palate, Wide mouth, Small hand, Bifid uvula, Downturned corners of mouth, Esophageal atresia... |
OMIM:618779 |
Immune-Mediated Necrotizing Myopathy |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Myo... |
ORPHA:206569 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Gait disturbance, Ragged-red muscle fibers, Ataxia |
ORPHA:1349 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Tented upper lip vermilion, Tr... |
OMIM:619424 |
Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Cleft palate, Postaxial polydactyly, Bifid uvula, Camptodactyly, Pos... |
OMIM:614175 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cleft upper lip, Macroglossia, Skeletal muscle hypertrophy, Cleft palate, Muscular dystrophy, Inc... |
OMIM:613150 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Cleft upper lip, Broad-based gait, Bifid uvula, Cleft palate |
OMIM:300958 |
1Q41Q42 Microdeletion Syndrome |
|
Talipes equinovarus, Congenital diaphragmatic hernia, Cleft palate, Thick vermilion border, Submu... |
ORPHA:250999 |
Zimmermann-Laband Syndrome |
|
High palate, Wide mouth, Supernumerary tooth, Hypodontia, Cleft palate, Macroglossia, Anterior op... |
ORPHA:3473 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Vanishing testis, Abno... |
OMIM:273250 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Weakness of facial musculature, Generalized amyotrophy, Myopathy, Ragged-red muscle fibers |
ORPHA:352447 |
Amish Lethal Microcephaly |
|
Limb hypertonia, Cleft soft palate |
ORPHA:99742 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Broad-based gait, Long hallux, Talipes equinovarus, High, narrow palate, Cleft palate, Hyperexten... |
OMIM:309583 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Flexion contracture, Short femur, Increased variability in muscle fiber diameter, Short humerus, ... |
ORPHA:17 |
Meacham Syndrome |
|
Abnormal vagina morphology, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve... |
ORPHA:3097 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Bifid uvula, Congenital diaphragmatic hernia, Cleft palate |
OMIM:606164 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
EMG: myopathic abnormalities, Left ventricular hypertrophy, Ragged-red muscle fibers, Skeletal mu... |
OMIM:615418 |
Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Accessory oral frenulum, Hypoplasia of proximal radius, Prea... |
ORPHA:2756 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Torticollis, Hemidystonia, Brachydactyly, Tapered finger, Downturned corners of mouth, Tremor, Th... |
OMIM:619680 |
Pallister W Syndrome |
|
Agenesis of central incisor, Radial bowing, Joint contracture of the hand, Camptodactyly, Hypopla... |
OMIM:311450 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness, Gait disturbance |
OMIM:609286 |
Loeys-Dietz Syndrome 5 |
|
High palate, Hiatus hernia, Talipes equinovarus, Cleft palate, Eosinophilic infiltration of the e... |
OMIM:615582 |
Neu-Laxova Syndrome |
|
Flexion contracture, Cleft palate, Everted lower lip vermilion, Opisthotonus, Muscular dystrophy,... |
ORPHA:2671 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
High palate, Narrow mouth, Cleft palate, Small hand, Short philtrum, Bifid uvula, Pyloric stenosi... |
ORPHA:96184 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
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High palate, Cleft palate, Hypoplasia of the radius, Clinodactyly of the 5th finger, Talipes equi... |
OMIM:268305 |
Vici Syndrome |
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Cleft upper lip, Cleft palate, Left ventricular hypertrophy, Myopathy, Abnormal posturing |
OMIM:242840 |
Walker-Warburg Syndrome |
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Cleft palate, Muscular dystrophy, Bifid uvula, Metatarsus valgus, Aplasia/Hypoplasia involving th... |
ORPHA:899 |
Brachycephaly, Trichomegaly, And Developmental Delay |
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High palate, Supernumerary tooth, Prominent fingertip pads, Thin vermilion border, Bifid uvula, O... |
OMIM:617412 |
Congenital Myasthenic Syndrome |
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High palate, Ataxia, Muscle fiber atrophy, Tip-toe gait, EMG: myopathic abnormalities, Limb-girdl... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
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High palate, Ataxia, Muscle fiber atrophy, Tip-toe gait, EMG: myopathic abnormalities, Limb-girdl... |
ORPHA:98914 |
W Syndrome |
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Radial bowing, Camptodactyly, Hypoplasia of the ulna, Broad uvula, Clinodactyly, Metatarsus adduc... |
ORPHA:2804 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
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Talipes equinovarus, Type 1 muscle fiber predominance, Waddling gait, Myopathy, Skeletal muscle a... |
OMIM:614557 |
Acrocallosal Syndrome |
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High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Tapered finger, Bifid di... |
OMIM:200990 |
Kleefstra Syndrome 2 |
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Bifid uvula, Everted lower lip vermilion |
OMIM:617768 |
Ovarian Dysgenesis 6 |
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Hypoplasia of the uterus |
OMIM:618078 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
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2-3 toe syndactyly, Cleft palate, Postaxial polydactyly, Intestinal malrotation, Broad distal pha... |
ORPHA:404440 |
Emanuel Syndrome |
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High palate, Multiple joint contractures, Anal atresia, Ectopic anus, Congenital diaphragmatic he... |
ORPHA:96170 |
46,Xy Sex Reversal 7 |
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Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... |
OMIM:233420 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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High palate, Ataxia, Contracture of the proximal interphalangeal joint of the 4th toe, Long philt... |
ORPHA:457279 |
Complete Androgen Insensitivity Syndrome |
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Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... |
ORPHA:99429 |
Coenzyme Q10 Deficiency, Primary, 1 |
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Loss of ambulation, Ataxia, Decreased level of coenzyme Q10 in skeletal muscle, Ragged-red muscle... |
OMIM:607426 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
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Coarse metaphyseal trabecularization, High, narrow palate, Cleft palate, Delayed eruption of teet... |
ORPHA:2780 |
White-Sutton Syndrome |
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High palate, Congenital diaphragmatic hernia, Cleft palate, Thin vermilion border, Short philtrum... |
OMIM:616364 |
Rapp-Hodgkin Syndrome |
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Cleft upper lip, Narrow mouth, Velopharyngeal insufficiency, Hypodontia, Cleft palate, Syndactyly... |
OMIM:129400 |
Myhre Syndrome |
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Narrow mouth, Cleft palate, Skeletal muscle hypertrophy, Thin vermilion border, Gingival cleft, B... |
ORPHA:2588 |
Partial Androgen Insensitivity Syndrome |
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Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad... |
ORPHA:90797 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
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Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Orofaciodigital Syndrome V |
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High palate, Hypodontia, Cleft palate, Postaxial polydactyly, Bifid tongue, Bifid uvula, Lobulate... |
OMIM:174300 |
Craniosynostosis 2 |
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Brachydactyly, Triphalangeal thumb, Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
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Abnormality of the extraocular muscles, Atrophic muscularis propria, Small intestinal dysmotility... |
ORPHA:298 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
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High palate, Bifid uvula, Median cleft lip |
OMIM:155145 |
Ehlers-Danlos Syndrome, Classic-Like |
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Hiatus hernia, Muscle fiber splitting, Proximal amyotrophy |
OMIM:606408 |
Hypotonia-Cystinuria Syndrome |
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Ragged-red muscle fibers, Facial palsy, Tented upper lip vermilion |
OMIM:606407 |
Mucopolysaccharidosis, Type Ix |
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Finger joint hypermobility, Bifid uvula, Submucous cleft hard palate |
OMIM:601492 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
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Broad-based gait, Dental malocclusion, Multiple joint contractures, Short distal phalanx of finge... |
ORPHA:2959 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
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Coxa vara, Clinodactyly of the 5th finger, Velopharyngeal insufficiency, 2-3 toe syndactyly, Clef... |
OMIM:614701 |
Buratti-Harel Syndrome |
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High palate, Clinodactyly of the 5th finger, Velopharyngeal insufficiency, Bifid uvula, Broad hal... |
OMIM:619314 |
Hydrolethalus |
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Cleft palate, Gingival cleft, Micromelia, Bifid uvula, Postaxial hand polydactyly, Unilateral cle... |
ORPHA:2189 |
Loeys-Dietz Syndrome 4 |
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Torticollis, High palate, Talipes equinovarus, High, narrow palate, Eosinophilic infiltration of ... |
OMIM:614816 |
Cardiac-Urogenital Syndrome |
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Ventricular septal defect, Ambiguous genitalia, Tracheomalacia, Unilateral cryptorchidism, Tetral... |
OMIM:618280 |
Neuromuscular Oculoauditory Syndrome |
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Muscle fiber necrosis, Talipes equinovarus, EMG: myopathic abnormalities, Calf muscle hypertrophy... |
OMIM:618733 |
Vertebral Hypersegmentation And Orofacial Anomalies |
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Scapular winging, Unilateral cleft palate, Unilateral cleft lip, Submucous cleft hard palate |
OMIM:619122 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
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Rhabdomyolysis, Muscle fiber atrophy, Increased muscle lipid content |
ORPHA:228302 |
Temple Syndrome |
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Small hand, Short foot, Clinodactyly of the 5th finger, Bifid uvula |
ORPHA:254516 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
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Pierre-Robin sequence, Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of t... |
OMIM:192445 |
Orofaciodigital Syndrome Type 2 |
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High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Complete duplicati... |
ORPHA:2751 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
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Dens in dente, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Hypodontia, Macrodontia, Bifid... |
OMIM:263540 |
Chromosome 18Q Deletion Syndrome |
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Cleft upper lip, U-Shaped upper lip vermilion, Broad-based gait, Overlapping toe, Talipes equinov... |
OMIM:601808 |
Meckel Syndrome 12 |
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Bifid uvula, Arthrogryposis multiplex congenita, Rocker bottom foot |
OMIM:616258 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
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Bifid uvula, Absent thumb, Submucous cleft hard palate |
OMIM:619239 |
Otospondylomegaepiphyseal Dysplasia |
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Tibial bowing, Cleft palate, Glossoptosis, Brachydactyly, Bifid uvula, Short phalanx of finger, F... |
ORPHA:1427 |
Pai Syndrome |
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Abnormal oral frenulum morphology, Median cleft lip, Bifid uvula, Cleft palate |
ORPHA:1993 |
Snakebite Envenomation |
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Rhabdomyolysis, Muscle fiber necrosis, Gingival bleeding |
ORPHA:449285 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 3 |
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Wide mouth, Ataxia, Cleft palate, Prominent fingertip pads, Eclabion, Limb hypertonia, Short phil... |
OMIM:619950 |
8Q22.1 Microdeletion Syndrome |
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Abnormality of the dentition, Camptodactyly of finger, Long philtrum, Sandal gap, Finger syndacty... |
ORPHA:178303 |
Testicular Agenesis |
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Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... |
ORPHA:325124 |
Hyperphosphatasia-Intellectual Disability Syndrome |
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High palate, Ataxia, Shortening of all distal phalanges of the fingers, Short philtrum, Bifid uvu... |
ORPHA:247262 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
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Abnormal posturing |
OMIM:614857 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
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Broad-based gait, Flexion contracture, Dysdiadochokinesis, Generalized limb muscle atrophy, Dysto... |
OMIM:618891 |
Schilbach-Rott Syndrome |
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2-3 toe cutaneous syndactyly, Narrow mouth, 3-4 finger cutaneous syndactyly, Bifid uvula, Clinoda... |
OMIM:164220 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
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Wide mouth, Abnormality of the dentition, Bifid uvula, Enamel hypoplasia, Skeletal muscle atrophy |
OMIM:615802 |
Frontometaphyseal Dysplasia 2 |
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High palate, Hip contracture, Dislocated radial head, Ulnar deviation of the hand, Talipes equino... |
OMIM:617137 |
Glycogen Storage Disease Xii |
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Increased variability in muscle fiber diameter, Muscle fiber splitting, Myopathy |
OMIM:611881 |
Frontometaphyseal Dysplasia |
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Cleft palate, Progressive bowing of long bones, Short distal phalanx of finger, Short distal phal... |
ORPHA:1826 |
Auriculocondylar Syndrome |
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Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Bifid uvula, Hamartoma of tongue, ... |
ORPHA:137888 |
Bencze Syndrome |
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Submucous cleft hard palate, Open bite |
ORPHA:1241 |
Diamond-Blackfan Anemia 6 |
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Cleft upper lip, Cleft palate, Bifid uvula, Triphalangeal thumb, Short thumb |
OMIM:612561 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
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Alveolar ridge overgrowth, Drumstick terminal phalanges, Cleft palate, Thin vermilion border, Bra... |
OMIM:612938 |
Overlap Myositis |
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Subluxation of the small joints of the hand, Finger swelling, Difficulty walking, Perifascicular ... |
ORPHA:206572 |
Polymyositis |
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Gait disturbance, Abnormal muscle fiber morphology |
ORPHA:732 |
Mullerian Aplasia And Hyperandrogenism |
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Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube |
OMIM:158330 |
Orofaciodigital Syndrome Iii |
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Supernumerary tooth, Bifid tongue, Bifid uvula, Microdontia, Postaxial hand polydactyly, Tongue n... |
OMIM:258850 |
Marshall Syndrome |
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Thick upper lip vermilion, Wide tufts of distal phalanges, Clinodactyly of the 5th finger, Macrod... |
OMIM:154780 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Cleft soft palate, Unilateral cleft lip, Bifid uvula, Cleft palate |
ORPHA:2736 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Muscle fiber atrophy, Inability to walk, Macroglossia, Flexion contracture, Absent muscle fiber m... |
ORPHA:258 |
46,Xx Sex Reversal 2 |
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Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... |
OMIM:278850 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Dental malocclusion, Tooth agenesis, Inability to walk, High, narrow palate, Macroglossia, Cleft ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Dental malocclusion, Tooth agenesis, Inability to walk, High, narrow palate, Macroglossia, Cleft ... |
ORPHA:352665 |
Desbuquois Dysplasia 2 |
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Advanced ossification of carpal bones, Toe clinodactyly, Hypodontia, Cleft palate, Metaphyseal wi... |
OMIM:615777 |
Osteopathia Striata With Cranial Sclerosis |
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High palate, Cleft palate, Thick lower lip vermilion, Cleft upper lip, Anal atresia, Clinodactyly... |
OMIM:300373 |
Cree Mental Retardation Syndrome |
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Cutaneous finger syndactyly, Cleft soft palate, Rocker bottom foot |
OMIM:606851 |
Isolated Childhood Apraxia Of Speech |
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High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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Deposits immunoreactive to beta-amyloid protein, Ataxia |
ORPHA:1020 |
Branchiootorenal Syndrome 1 |
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High palate, Cleft palate, Intestinal malrotation, Microdontia, Bifid uvula, Increased overbite, ... |
OMIM:113650 |
Neutral Lipid Storage Myopathy |
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Hand muscle weakness, Rimmed vacuoles, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, ... |
ORPHA:98908 |
Marden-Walker Syndrome |
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Narrow mouth, Cleft palate, Arachnodactyly, Muscular dystrophy, Camptodactyly of finger, Bifid uv... |
ORPHA:2461 |
Bifid Uvula |
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Cleft lip, Submucous cleft soft palate, Bifid uvula |
ORPHA:99771 |
Orofaciodigital Syndrome Type 4 |
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Abnormality of the tongue, Cleft palate, Short philtrum, Micromelia, Perineal fistula, Anal atres... |
ORPHA:2753 |
Stickler Syndrome, Type I |
|
Cleft palate, Arachnodactyly, Bifid uvula, Irregular femoral epiphysis, Pierre-Robin sequence, Ab... |
OMIM:108300 |
Megalocornea-Mental Retardation Syndrome |
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High palate, Ataxia, Arachnodactyly, Long philtrum, Bifid uvula, Genu valgum |
OMIM:249310 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
High palate, High, narrow palate, Prominent fingertip pads, Small hand, Long philtrum, Sandal gap... |
OMIM:612863 |
Autosomal Dominant Progressive External Ophthalmoplegia |
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Facial diplegia, Ataxia, Resting tremor, EMG: myopathic abnormalities, Quadriceps muscle weakness... |
ORPHA:254892 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
15Q Overgrowth Syndrome |
|
High palate, Overlapping toe, Clinodactyly of the 5th finger, High, narrow palate, Abnormal finge... |
ORPHA:314585 |
Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers, Ataxia |
OMIM:530000 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Overlapping toe, Hypoplasia of the tooth germ, Bifid uvula, Broad hallux, Genu valgum, Broad thum... |
ORPHA:293967 |
Spondyloepiphyseal Dysplasia Congenita |
|
Coxa vara, Talipes equinovarus, Cleft palate, Delayed calcaneal ossification, Bifid uvula, Waddli... |
OMIM:183900 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Muscle fiber atrophy, Talipes equinovarus, High, narrow palate, EMG: myopathic abnormalities, Wri... |
ORPHA:1900 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Wide mouth, Narrow mouth, Ataxia, Synostosis of the proximal phalanx of the thumb with the 1st me... |
OMIM:300967 |
Birk-Barel Syndrome |
|
High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula, Tented upper lip vermilion |
OMIM:612292 |
Cerebrocostomandibular Syndrome |
|
High palate, Clinodactyly of the 5th finger, Glossoptosis, Abnormality of the dentition, Short ha... |
OMIM:117650 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
High palate, Clinodactyly of the 5th finger, Long upper lip, Cleft palate, Everted lower lip verm... |
OMIM:608670 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Narrow mouth, Clinodactyly of the 5th finger, Talipes equinovarus, Short femur, Broad distal phal... |
OMIM:300990 |
Orofaciodigital Syndrome Type 3 |
|
Abnormality of the dentition, Bifid uvula, Lobulated tongue, Hamartoma of tongue, Postaxial hand ... |
ORPHA:2752 |
Congenital Disorder Of Glycosylation, Type It |
|
Pierre-Robin sequence, Rhabdomyolysis, Bifid uvula, Cleft palate |
OMIM:614921 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin vermilion border, Small hand, Long philtrum, Bifid uvula, Short foot, Short palm |
OMIM:241410 |
Limb-Mammary Syndrome |
|
Clinodactyly of the 5th finger, Hypodontia, Cleft palate, 3-4 finger cutaneous syndactyly, Submuc... |
ORPHA:69085 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
High palate, Wide mouth, Ataxia, Cone-shaped epiphyses of the phalanges of the hand, Microdontia,... |
OMIM:266920 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Diastasis recti, Aplasia/Hypoplasia involving the shoulder musculature, Craniosynostosis, Bifid u... |
ORPHA:1521 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Aplasia of the uterus, Hypoplasia of the vagina, Vertebral fusion |
ORPHA:3109 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Wide mouth, Abnormality of finger, High, narrow palate, Cleft palate, Finger syndactyly, Brachyda... |
ORPHA:2658 |
Apert Syndrome |
|
Ectopic anus, Narrow palate, Aplasia/Hypoplasia of the thumb, Cleft palate, Micromelia, Delayed e... |
ORPHA:87 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Dislocated radial head, Narrow mouth, Talipes equinovarus, Coxa valga, Cleft palate, Flexion cont... |
OMIM:130070 |
Sifrim-Hitz-Weiss Syndrome |
|
Gait imbalance, Short femoral neck, Tapered finger, Bifid uvula, Anteriorly placed anus |
OMIM:617159 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Clinodactyly of the 5th finger, Hypodontia, Cleft palate, Finger syndactyly, Submucous cleft soft... |
ORPHA:1071 |
Prader-Willi Syndrome Due To Translocation |
|
High palate, Wide mouth, Alveolar ridge overgrowth, Clinodactyly of the 5th finger, Overlapping t... |
ORPHA:177907 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Ambiguo... |
ORPHA:168558 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
High palate, Cleft palate, Macroglossia, Oligodontia, Bifid uvula, Downturned corners of mouth, F... |
ORPHA:453499 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Anal atresia, Cleft palate, Postaxial polydactyly, Small hand, Abnormality of the dentition, Long... |
OMIM:300968 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Ambiguo... |
ORPHA:289548 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Precocious puberty in females, Blind vagina, Ambiguous genitalia, male, Micropenis, Ovarian cyst,... |
ORPHA:90793 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Rhabdomyolysis, Ragged-red muscle fibers, Ataxia |
OMIM:124000 |
Desmosterolosis |
|
Narrow mouth, Cleft palate, Intestinal malrotation, Micromelia, Bifid uvula, Metatarsus adductus,... |
ORPHA:35107 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Wide mouth, Unilateral cleft palate, Unilateral cleft lip, Thick lower lip vermilion, Submucous c... |
OMIM:619103 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Wide mouth, Macroglossia, Broad distal phalanx of finger, Microdontia, Hypoplasi... |
OMIM:619194 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Malabsorption, Allodynia, Distal amyotrophy, Ragged-red muscle fibers, Colonic diverticula, Intes... |
OMIM:603041 |
Alg9-Cdg |
|
Torticollis, Wide mouth, Ulnar deviation of the hand, Hypoplasia of the musculature, Talipes equi... |
ORPHA:79328 |
Apert Syndrome |
|
Ectopic anus, Dental malocclusion, Narrow palate, Humeroradial synostosis, Cleft palate, Broad di... |
OMIM:101200 |
Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Lower limb muscle weakness, Increased intramyocellular lipid dr... |
ORPHA:79102 |
Trisomy 8P |
|
Multiple joint contractures, Short fifth metatarsal, Clinodactyly of the 5th finger, Overlapping ... |
ORPHA:264450 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Short philtrum, Smooth philtrum, Cleft soft palate, Adducted thumb |
ORPHA:293725 |
Camptodactyly Syndrome, Guadalajara, Type I |
|
High palate, Dental malocclusion, Narrow mouth, Short palm, Abnormality of dental eruption, Campt... |
OMIM:211910 |
Lumbar Syndrome |
|
Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Hypopl... |
ORPHA:83628 |
Hypomandibular Faciocranial Dysostosis |
|
Narrow mouth, Bifid uvula, Aplasia/Hypoplasia of the tongue, Cleft palate |
ORPHA:1790 |
Meester-Loeys Syndrome |
|
Bifid uvula, Flexion contracture, Camptodactyly |
OMIM:300989 |
Craniolenticulosutural Dysplasia |
|
High palate, Wide mouth, Cleft palate, Long philtrum, Delayed eruption of teeth, Bifid uvula, Car... |
OMIM:607812 |
Tolchin-Le Caignec Syndrome |
|
Diastasis recti, High palate, Narrow mouth, Clinodactyly of the 5th finger, Arachnodactyly, Submu... |
OMIM:618971 |
Microphthalmia, Syndromic 2 |
|
Contracture of the proximal interphalangeal joint of the 3rd toe, Radiculomegaly, Delayed eruptio... |
OMIM:300166 |
Ear-Patella-Short Stature Syndrome |
|
Narrow mouth, Clinodactyly of the 5th finger, High, narrow palate, Cleft palate, Camptodactyly of... |
ORPHA:2554 |
Branchioskeletogenital Syndrome |
|
Premature loss of teeth, Thin vermilion border, Abnormality of the dentition, Short philtrum, Upp... |
ORPHA:1299 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Flexion contracture, Intestinal malrotation, Downturned corners of mouth, Genu valgum, Smooth phi... |
OMIM:619321 |
Branchiogenic-Deafness Syndrome |
|
Short distal phalanx of finger, Submucous cleft hard palate |
OMIM:609166 |
Zttk Syndrome |
|
High palate, Narrow mouth, Intestinal atresia, Flexion contracture, Thin vermilion border, Abnorm... |
OMIM:617140 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
High palate, Wide mouth, Slender finger, Delayed eruption of teeth, Falls, Tapered finger, Esopha... |
OMIM:619503 |
Blackfan-Diamond Anemia |
|
High palate, Abnormality of the thenar eminence, Absent thumb, Partial duplication of thumb phala... |
ORPHA:124 |
Choreoacanthocytosis |
|
Oromandibular dystonia, Loss of ambulation, Muscle fiber atrophy, Blepharospasm, Laryngeal dyston... |
ORPHA:2388 |
Thrombocytopenia-Absent Radius Syndrome |
|
Fused cervical vertebrae, Abnormal cardiac septum morphology, Aplasia of the uterus, Tetralogy of... |
ORPHA:3320 |
Cardiofaciocutaneous Syndrome 1 |
|
High palate, Dental malocclusion, Clinodactyly of the 5th finger, Open bite, Hyperextensibility o... |
OMIM:115150 |
Meier-Gorlin Syndrome 5 |
|
Long philtrum, Hypoplasia of the capital femoral epiphysis, Irregular femoral epiphysis, Patellar... |
OMIM:613805 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Absent external genitalia, Aplasia of the uterus, Block vertebrae, Aplasia of t... |
OMIM:271520 |
Semilobar Holoprosencephaly |
|
High palate, Inability to walk, Cleft palate, Flexion contracture, Bifid uvula, Solitary median m... |
ORPHA:220386 |
Alobar Holoprosencephaly |
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High palate, Inability to walk, Cleft palate, Flexion contracture, Bifid uvula, Solitary median m... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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High palate, Inability to walk, Cleft palate, Flexion contracture, Bifid uvula, Solitary median m... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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High palate, Inability to walk, Cleft palate, Flexion contracture, Bifid uvula, Solitary median m... |
ORPHA:93924 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Broad-based gait, Ataxia, Supernumerary tooth, Abnormality of toe, Polydactyly, Tapered finger, P... |
ORPHA:268261 |
Campomelic Dysplasia |
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High palate, Cleft palate, Femoral bowing, Short 1st metacarpal, Carious teeth, Bowing of the lon... |
OMIM:114290 |
Dubowitz Syndrome |
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High palate, Wide mouth, Malabsorption, Clinodactyly of the 5th finger, Abnormality of thumb phal... |
ORPHA:235 |
Melas |
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Ataxia, Gait disturbance, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Intes... |
ORPHA:550 |
Popliteal Pterygium Syndrome |
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Cleft upper lip, Talipes equinovarus, Cleft palate, Bifid uvula, Lower lip pit, Fibrous syngnathi... |
OMIM:119500 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Ragged-red muscle fibers, Ataxia, Gait ataxia, Dystonia |
ORPHA:255210 |
Pontocerebellar Hypoplasia Type 7 |
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Micropenis, Gonadal dysgenesis, Absent penis, Ambiguous genitalia, Abnormal scrotal rugation, Cli... |
ORPHA:284339 |
Double Outlet Right Ventricle |
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Intestinal malrotation, Narrow mouth, Cleft palate, Submucous cleft hard palate |
ORPHA:3426 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Torticollis, Narrow mouth, Bifid uvula, Unilateral facial palsy, Tapered finger, Exaggerated cupi... |
OMIM:619480 |
Elsahy-Waters Syndrome |
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High palate, Dental malocclusion, Supernumerary tooth, Impacted tooth, Long philtrum, Delayed eru... |
OMIM:211380 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Aplasia of the uterus, Aplasia of the vagina, Facial hypotonia, Joint hypermobility |
ORPHA:457284 |
Triglyceride Deposit Cardiomyovasculopathy |
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Abnormality of the shoulder girdle musculature, Abnormality of the calf musculature, Rimmed vacuo... |
ORPHA:565612 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
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Bifid uvula, Submucous cleft hard palate |
OMIM:617660 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
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Aplasia of the uterus, Uterus didelphys, Aplasia of the vagina, Septate vagina |
OMIM:146255 |
Townes-Brocks Syndrome 2 |
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Hypospadias, Bifid uterus, Rectovaginal fistula |
OMIM:617466 |
Singleton-Merten Syndrome 1 |
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Eruption failure, Muscle fiber atrophy, Expanded metacarpals with widened medullary cavities, Ten... |
OMIM:182250 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia, Abnormal heart morphology |
ORPHA:2237 |
Baller-Gerold Syndrome |
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High palate, Anal atresia, Narrow mouth, Carpal synostosis, Cleft palate, Hypoplasia of the radiu... |
OMIM:218600 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Inability to walk, Cleft palate, Short philtrum, Delayed eruption of teeth, Pyloric stenosis, Bro... |
ORPHA:261537 |
Dubowitz Syndrome |
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High palate, Clinodactyly of the 5th finger, Velopharyngeal insufficiency, Agenesis of permanent ... |
OMIM:223370 |
Mowat-Wilson Syndrome |
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Ataxia, Inability to walk, Cleft palate, Delayed eruption of teeth, Tapered finger, Pyloric steno... |
ORPHA:2152 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
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High palate, Bifid uvula |
OMIM:300472 |
Tetrasomy 9P |
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High palate, Small toe, Clinodactyly of the 5th finger, Talipes equinovarus, Abnormal number of p... |
ORPHA:3310 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Tooth malposition, Cleft palate, Failure of eruption of permanent teeth, Bifid uvula, Submucous c... |
ORPHA:2250 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
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High palate, Triangular mouth, Long philtrum, Bifid uvula, Deep philtrum, Widely spaced teeth, Th... |
OMIM:617506 |
Meckel Syndrome 14 |
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Aplasia of the uterus, Single ventricle, Decreased calvarial ossification, Ambiguous genitalia |
OMIM:619879 |
Wiedemann-Rautenstrauch Syndrome |
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Ataxia, Abnormality of the dentition, Limb hypertonia, Short philtrum, Truncal ataxia, Tremor, Ac... |
ORPHA:3455 |
Holoprosencephaly 3 |
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Cleft lip, Solitary median maxillary central incisor, Bifid uvula, Cleft palate |
OMIM:142945 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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Ataxia, Increased intramyocellular lipid droplets, Ragged-red muscle fibers, Tongue fasciculation... |
OMIM:252010 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
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Tracheoesophageal fistula, Duodenal atresia, Esophageal atresia, Submucous cleft hard palate |
OMIM:619227 |
Lacrimoauriculodentodigital Syndrome |
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Hypodontia, Absent thumb, Finger syndactyly, Hypoplasia of the radius, Abnormality of the dentiti... |
ORPHA:2363 |
Viss Syndrome |
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High palate, Chronic gastritis, Talipes equinovarus, High, narrow palate, Macroglossia, Right ven... |
OMIM:619472 |
Velocardiofacial Syndrome |
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Velopharyngeal insufficiency, Cleft palate, Open mouth, Pierre-Robin sequence, Submucous cleft ha... |
OMIM:192430 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Abnormality of finger, Clinodactyly of the 5th finger, Cleft palate, Broad distal phalanx of fing... |
ORPHA:2636 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Inability to walk, Cleft palate, Short philtrum, Delayed eruption of teeth, Pyloric stenosis, Bro... |
ORPHA:261552 |
Trichohepatoenteric Syndrome 1 |
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Wide mouth, Narrow mouth, Long philtrum, Bifid uvula, Avascular necrosis of the capital femoral e... |
OMIM:222470 |
Cardiofaciocutaneous Syndrome |
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High palate, Abnormal morphology of ulna, Long philtrum, Genu valgum, Submucous cleft hard palate |
ORPHA:1340 |
Loeys-Dietz Syndrome 1 |
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Talipes equinovarus, Eosinophilic infiltration of the esophagus, Cleft palate, Arachnodactyly, Bi... |
OMIM:609192 |
Treacher Collins Syndrome 1 |
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Wide mouth, Narrow mouth, Cleft palate, Abnormal parotid gland morphology, Cleft soft palate |
OMIM:154500 |
Smith-Lemli-Opitz Syndrome |
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Overlapping toe, 2-3 toe cutaneous syndactyly, Short toe, 2-3 toe syndactyly, Cleft palate, Intes... |
OMIM:270400 |
Oeis Complex |
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Labial hypoplasia, Ambiguous genitalia, female, Vesicovaginal fistula, Ambiguous genitalia, male,... |
OMIM:258040 |
Hardikar Syndrome |
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Intestinal malrotation, Bilateral cleft lip and palate, Gastric varix, Esophageal varix, Unilater... |
OMIM:301068 |
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome |
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Submucous cleft soft palate, Cleft soft palate |
ORPHA:2282 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, female, Accelerated... |
ORPHA:90794 |
Steinfeld Syndrome |
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Hypoplasia of the radius, Bifid uvula, Hypoplasia of the ulna, Median cleft lip and palate, Aplas... |
OMIM:184705 |
Van Esch-O'Driscoll Syndrome |
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Wide mouth, Clinodactyly of the 5th finger, Tracheoesophageal fistula, Bifid uvula, Downturned co... |
OMIM:301030 |
Restrictive Dermopathy 1 |
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Narrow mouth, Flexion contracture, Neonatal death, Osteolytic defects of the distal phalanges of ... |
OMIM:275210 |
Pallister-Hall Syndrome |
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Cleft palate, Polydactyly affecting the 4th finger, Polydactyly affecting the 3rd finger, Anal at... |
ORPHA:672 |
Ehlers-Danlos Syndrome, Vascular Type |
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