Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Distal muscle ... |
OMIM:616199 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Distal muscle weakness, Proxima... |
OMIM:618655 |
Myopathy, Vacuolar, With Casq1 Aggregates |
|
Muscle weakness, Muscle fiber calsequestrin 1-containing inclusion bodies, Proximal muscle weakness |
OMIM:616231 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Proximal muscle weakness, Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal... |
OMIM:618848 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Proximal muscle weakness, Quadriceps m... |
ORPHA:611 |
Nonaka Myopathy |
|
Distal muscle weakness, Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle... |
OMIM:605820 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Myasthenic Syndrome, Congenital, 17 |
|
Difficulty walking, Muscle weakness, Type 1 muscle fiber predominance, Ptosis |
OMIM:616304 |
Distal Anoctaminopathy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal m... |
ORPHA:399096 |
Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Distal upper limb muscle weakness, Muscle fiber splitting, Weakness ... |
OMIM:617030 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals... |
OMIM:616852 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... |
OMIM:158600 |
Welander Distal Myopathy |
|
Distal amyotrophy, Distal muscle weakness, Rimmed vacuoles |
OMIM:604454 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Quadriceps muscle atrophy, Hyperlordosis, Angulated muscle fibers, Progressive ... |
OMIM:620285 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Abnormality of the ... |
ORPHA:59135 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Distal muscle weakness, Short stature, Distal amyotrophy, Type 1 muscle fiber pr... |
OMIM:619042 |
Oculopharyngodistal Myopathy 2 |
|
Bulbar palsy, Distal muscle weakness, Fatty replacement of skeletal muscle, External ophthalmople... |
OMIM:618940 |
Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Neck flexor weakness, Dista... |
ORPHA:178464 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Distal muscle weakness, Proximal muscle weakness, Rimmed vacuoles |
OMIM:147421 |
Myasthenic Syndrome, Congenital, 13 |
|
Proximal muscle weakness, Fatigable weakness, Scoliosis, Muscle fiber tubular inclusions, Ptosis |
OMIM:614750 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Foot dorsiflexor weakness, Peroneal muscle atrophy, Scapuloperoneal weakness, Z-band streaming, W... |
OMIM:181400 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes... |
ORPHA:98912 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Scapular winging, Proximal muscle weakness, Angulated muscle fibers, Shoulder girdle muscle weakn... |
OMIM:619477 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... |
ORPHA:399058 |
Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... |
OMIM:620286 |
Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Progressive... |
ORPHA:178400 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Neck flexor weakness, Short stature, Facial palsy, Ragged-red muscle fibers, Proximal muscle weak... |
OMIM:616209 |
Oculopharyngeal Muscular Dystrophy 1 |
|
Distal muscle weakness, Facial palsy, Proximal muscle weakness, Progressive ptosis, Neck muscle w... |
OMIM:164300 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Fatiguable weakness of proximal limb muscles, Muscle ... |
ORPHA:2593 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Short stature, Neck flexor weakness, Ragged-red muscle f... |
ORPHA:457050 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Distal muscle weakness, Autophagic vacuoles, Facial hypotonia, Proximal muscle weakness, Fatty re... |
ORPHA:266 |
Desminopathy |
|
Thoracic kyphoscoliosis, Neck flexor weakness, Spinal rigidity, Respiratory insufficiency due to ... |
ORPHA:98909 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Congenital Myopathy 10B, Mild Variant |
|
Neck flexor weakness, Elbow contracture, Fatty replacement of skeletal muscle, Progressive muscle... |
OMIM:620249 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Gowers sign, Increase... |
OMIM:613204 |
Distal Myotilinopathy |
|
Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak... |
ORPHA:98911 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness, Facial palsy, ... |
OMIM:254110 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Abdominal wall muscle weakness, Centrally nucleated skeletal muscl... |
OMIM:615424 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Proximal muscle weakness, Muscle fiber cytoplasmatic inclusion bodies, Mus... |
OMIM:609524 |
Mitochondrial Myopathy With Diabetes |
|
Facial palsy, Proximal muscle weakness, Ragged-red muscle fibers, Limb muscle weakness, Proximal ... |
OMIM:500002 |
Myopathy, Myofibrillar, 3 |
|
Progressive distal muscle weakness, Proximal muscle weakness, Achilles tendon contracture, Distal... |
OMIM:609200 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Poor head control, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Fl... |
OMIM:300717 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Neck flexor weakness, Elbow contracture, Ankle contracture, Proximal muscle weak... |
OMIM:620386 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Abdominal wall muscle weakness, Centra... |
OMIM:619733 |
Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Distal amyotrophy, Distal muscle weakness, Fiber type grouping |
OMIM:614369 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Distal muscle weakness, Proximal muscle weakness, In... |
OMIM:618654 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Type 2 muscle... |
OMIM:620235 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Progressive distal muscle weakness, Progressive muscle weakness, Progressive... |
OMIM:609452 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... |
ORPHA:399086 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Scapular winging, Lumbar hyperlordosis, Pelvic girdle muscle atrophy, Facial palsy, Pe... |
OMIM:167320 |
Distal Nebulin Myopathy |
|
Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac... |
ORPHA:399103 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Fatty replacement of s... |
OMIM:608807 |
Myasthenic Syndrome, Congenital, 18 |
|
Ataxia, Knee flexion contracture, Fatigable weakness, Difficulty walking, Ptosis |
OMIM:616330 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Generalized muscle weakne... |
ORPHA:34516 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Hyperlordosis, Proximal muscle... |
OMIM:611588 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, G... |
OMIM:117000 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Distal muscle weakness, Ankle flexion contracture, Centrally nucleated s... |
OMIM:617760 |
Duchenne Muscular Dystrophy |
|
Waddling gait, Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness, Fl... |
ORPHA:98896 |
Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Gowers sign, Increased variability in muscle fiber diameter, Proximal mu... |
OMIM:611615 |
Zebra Body Myopathy |
|
Torticollis, Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal muscle weakness,... |
ORPHA:97240 |
Myasthenic Syndrome, Congenital, 15 |
|
Fatigable weakness, Multiple joint contractures, Difficulty walking, Ptosis |
OMIM:616227 |
Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Distal muscle weakness, Proximal muscle weakness... |
OMIM:605637 |
Oculopharyngodistal Myopathy |
|
Loss of ambulation, Foot dorsiflexor weakness, Progressive ptosis, Distal lower limb amyotrophy, ... |
ORPHA:98897 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Proximal muscle weakness, Limb-girdle muscle weaknes... |
OMIM:608099 |
Moderate Multiminicore Disease With Hand Involvement |
|
Facial palsy, Generalized muscle weakness, Intrinsic hand muscle atrophy, Axial muscle weakness, ... |
ORPHA:178145 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Distal muscle weakness, Neck flexor weakness, Centrally nucleated skeletal musc... |
OMIM:601846 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness |
OMIM:159050 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Waddling gait, Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Increased var... |
ORPHA:1878 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Abdominal wall muscle weakness, Centrally nucleated skeletal muscle fibers, Fat... |
OMIM:618129 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... |
ORPHA:603 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Distal muscle weakness, Autophagic vacuoles, Centrally nucleated skeletal muscl... |
OMIM:608423 |
Myasthenic Syndrome, Congenital, 12 |
|
Facial palsy, Proximal muscle weakness, Gowers sign, Ragged-red muscle fibers, Proximal amyotroph... |
OMIM:610542 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Proximal muscle weakness, Gowers sign, Myopathy, Limb-girdle muscular dystrophy, Increased variab... |
OMIM:612937 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Progressive external ophthalmoplegia, Facial palsy, Ragged-red muscle fibers, Generalized muscle ... |
OMIM:609283 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Z-band streami... |
OMIM:619178 |
Myopathy, Distal, Tateyama Type |
|
Neck flexor weakness, Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic... |
OMIM:614321 |
Congenital Myopathy 14 |
|
Hip contracture, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flex... |
OMIM:618414 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Proximal muscle weakness, Muscular dystrophy, Increased variability in m... |
OMIM:253601 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Neck flexor weakness, Proximal muscle weakness, Quadriceps muscle weakness, Ach... |
OMIM:603689 |
Nemaline Myopathy 7 |
|
Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Fatty replacement of skeletal muscle, Gowers... |
OMIM:610687 |
Bethlem Myopathy 2 |
|
Scapular winging, Proximal muscle weakness, Flexion contracture, Myopathy, Increased variability ... |
OMIM:616471 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Poor head control, Facial palsy, Ophthalmoplegia, Flexion contracture, K... |
OMIM:616313 |
Miyoshi Muscular Dystrophy 1 |
|
Distal muscle weakness, Distal amyotrophy, Muscular dystrophy, Lower limb muscle weakness, Deposi... |
OMIM:254130 |
Myasthenic Syndrome, Congenital, 14 |
|
Waddling gait, Scapular winging, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Limb-... |
OMIM:616228 |
Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Neck flexor weakness, Myopathy, Limb muscle weakness, Nemaline bodies |
OMIM:609273 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy, Mu... |
OMIM:613530 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Progressive distal muscle weakness, Increased variability in muscl... |
ORPHA:488650 |
Congenital Myopathy 18 |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Ophthalmoplegia... |
OMIM:620246 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Progressive muscle weakness, Proximal amyotrophy, ... |
OMIM:605355 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Poor head control, Nemaline bodies, Generalized muscle weakness, Increased variability in muscle ... |
OMIM:620265 |
Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:98902 |
Myopathy And Diabetes Mellitus |
|
Distal lower limb amyotrophy, Inability to walk, Achilles tendon contracture, Progressive proxima... |
ORPHA:2596 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Calf muscle pseudohypertrophy, Scapular winging, Neck flexor weakness, Centrally nucleated skelet... |
OMIM:608358 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... |
OMIM:620068 |
Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Distal muscle weakness, Short stature, Abnormal muscle f... |
ORPHA:598 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Short stature, Ataxia, Centrally nucleated skeletal muscle fibers, Kypho... |
OMIM:248800 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Short stature, Centrally nucleated skeletal muscle fibers, Progressive muscle weakness, Scoliosis... |
OMIM:619518 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, S... |
OMIM:619566 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Skeletal muscle atrophy, Kyphosis, Inability to walk, Gait disturbance, Scoliosis, Joint contract... |
OMIM:611225 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Hand muscle atrophy, Distal muscle weakness, Facial palsy, Flexion contracture, Distal amyotrophy... |
OMIM:607684 |
Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Ophthalmoplegia, Ragged-red muscle fibers, Myopathy, Rimmed vac... |
ORPHA:270 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Scapuloperoneal weakness, Ac... |
OMIM:300696 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Progressive muscle weakness, Ragged-red muscle fibers, Difficulty walking |
OMIM:619024 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Skeletal muscle atrophy, Bulbar palsy, Progressive external ophthalmoplegia, Distal muscle weakne... |
ORPHA:254875 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Proximal muscle weakness, Respiratory insufficienc... |
ORPHA:424107 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, ... |
OMIM:300718 |
Myopathy, Tubular Aggregate, 1 |
|
Proximal muscle weakness, External ophthalmoplegia, Flexion contracture, Type 2 muscle fiber atro... |
OMIM:160565 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Proximal muscle ... |
OMIM:617069 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... |
ORPHA:254361 |
Autosomal Recessive Centronuclear Myopathy |
|
Waddling gait, Hip contracture, Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleate... |
ORPHA:169186 |
Myopathy, Centronuclear, 2 |
|
Waddling gait, Scapular winging, Distal muscle weakness, Facial palsy, Hyperlordosis, Centrally n... |
OMIM:255200 |
Myasthenic Syndrome, Congenital, 8 |
|
Weakness of facial musculature, Proximal muscle weakness, Ptosis |
OMIM:615120 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Distal muscle weakness, Facial palsy, ... |
OMIM:160500 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Waddling gait, Scapular winging, Lumbar hyperlordosis, Poor head control, Facial palsy, Distal mu... |
ORPHA:353327 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Proximal ... |
OMIM:612999 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Proximal muscle weakness, Proximal amyotrophy, Muscular dystrophy, Neck ... |
OMIM:614302 |
Myopathy, Myofibrillar, 2 |
|
Distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle muscle weak... |
OMIM:608810 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystroglycan, Ankle flexion contracture... |
ORPHA:280333 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Congenital Myopathy 23 |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Gowers sign, Flexion co... |
OMIM:609285 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Distal muscle weakness, Glycogen accumulation in muscle fiber lysosomes,... |
OMIM:300559 |
Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Progressive muscle wea... |
OMIM:608627 |
Myopathy, Centronuclear, 4 |
|
Muscle weakness, Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Proximal muscle weakness, Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy,... |
OMIM:616924 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi... |
ORPHA:663 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Bulbar palsy, Facial palsy, Gowers sign, Flexion contracture, Shoulder girdle muscle weakness, Mu... |
OMIM:603511 |
Myopathy, Distal, 3 |
|
Distal muscle weakness, Distal amyotrophy, Muscular dystrophy, Late-onset proximal muscle weaknes... |
OMIM:610099 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Short stature, Facial palsy, Respiratory insufficiency due to muscle weakness, Myopathy, Type 1 f... |
OMIM:300580 |
Myasthenic Syndrome, Congenital, 10 |
|
Waddling gait, Bulbar palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Proxi... |
OMIM:254300 |
Congenital Myopathy 4B, Autosomal Recessive |
|
Distal lower limb amyotrophy, Proximal muscle weakness, Flexion contracture, Generalized muscle w... |
OMIM:609284 |
Myasthenic Syndrome, Congenital, 23, Presynaptic |
|
Bulbar palsy, Fatigable weakness, Calf muscle hypertrophy, Neck muscle weakness, Muscle weakness,... |
OMIM:618197 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Generaliz... |
OMIM:603034 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Neck flexor... |
OMIM:618138 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Proximal muscle weakness, Gowers sign, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Musc... |
OMIM:613157 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Waddling gait, Hip contracture, Scapular winging, Bulbar palsy, Broad-based gait, Spinal muscular... |
OMIM:615290 |
Nemaline Myopathy 10 |
|
Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Fatty replacement of skeletal muscle, Respir... |
OMIM:616165 |
Mitochondrial Myopathy, Infantile, Transient |
|
Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Increas... |
OMIM:500009 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Kyphosis, Upper limb ... |
OMIM:617087 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Ophthalmoplegia, Increased variability in muscle fib... |
OMIM:619473 |
Multifocal Motor Neuropathy |
|
Progressive muscle weakness, Limb muscle weakness, Weakness of long finger extensor muscles, Prog... |
ORPHA:641 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Pr... |
OMIM:620138 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Distal muscle weakness, Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated s... |
OMIM:617072 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Gowers sign, Proximal muscle weakness, P... |
OMIM:617404 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexion cont... |
OMIM:256030 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Proximal m... |
OMIM:617070 |
Adult-Onset Nemaline Myopathy |
|
Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, Incr... |
ORPHA:171442 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Bulbar palsy, Facial palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Genera... |
OMIM:608930 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I... |
ORPHA:276435 |
Oculopharyngodistal Myopathy 4 |
|
Distal muscle weakness, Autophagic vacuoles, Fatty replacement of skeletal muscle, External ophth... |
OMIM:619790 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... |
OMIM:617066 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Proximal muscle weakness, Thenar muscle we... |
OMIM:614065 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Distal lower limb amyotrophy, Distal muscle weakness, Claw hand deformity, Distal upper limb musc... |
OMIM:605285 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Progressive external ophthalmoplegia, Proximal muscle weakness, Progressive muscle weakness, Ragg... |
OMIM:609286 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Steppage gait, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Highly arched eyebrow, Kyphosis, Congenital bilateral ptosis, Congenital fibrosis of extraocular ... |
OMIM:609384 |
Congenital Myopathy 3 With Rigid Spine |
|
Poor head control, Short stature, Facial palsy, Neck flexor weakness, Centrally nucleated skeleta... |
OMIM:602771 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Distal muscle wea... |
OMIM:600175 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... |
OMIM:616052 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Gowers sign, Flexion contracture, Muscle ... |
OMIM:253700 |
Oculomotor-Levator Synkinesis |
|
Ptosis, Eyelid retraction, Abnormal eyelid morphology |
OMIM:151610 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Proximal muscle... |
OMIM:618823 |
Merrf |
|
Myopathy, Ragged-red muscle fibers, Short stature |
ORPHA:551 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Progressive external ophthalmoplegia, Multiple joint contractures, Hyperlordosis, Limb-girdle mus... |
ORPHA:352470 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Skeletal muscle atrophy, Scapular winging, Poor head control, Proximal muscle weakness, Quadricep... |
OMIM:620389 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers, Muscle weakness |
OMIM:545000 |
Sandhoff Disease, Adult Form |
|
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs |
ORPHA:309169 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, Flexion contracture, Increased... |
OMIM:607855 |
Pure Mitochondrial Myopathy |
|
Waddling gait, Progressive external ophthalmoplegia, Scapular winging, Lumbar hyperlordosis, Neck... |
ORPHA:254854 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Short stature, Fatty replacement of skeletal muscle, Gowers sign, Growth delay, Proximal muscle w... |
ORPHA:171706 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Hand muscle atrophy, Intermittent episodes of respiratory insufficiency due to muscle weakness, O... |
OMIM:601462 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Limb-girdle muscle weakness... |
ORPHA:86812 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Hyperlordosis, Progressive muscle weakness, Gowers sign, Ragged-red muscle fibe... |
OMIM:600462 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo... |
OMIM:608340 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Ragged-red muscle fibe... |
OMIM:300816 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, Axial ... |
ORPHA:98905 |
Parastremmatic Dwarfism |
|
Severe short stature, Short neck, Kyphosis, Flexion contracture, Scoliosis |
OMIM:168400 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Broad-based gait, Achilles tendon... |
ORPHA:353 |
Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle weakness, Rimm... |
ORPHA:263494 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Generalized muscle weakness, Increased variability in muscle fiber diameter |
ORPHA:238329 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Progressive external ophthalmoplegia, Hyperlordosis, Gowers sign, Ophthalmoparesis, Myopathy, Sho... |
OMIM:615156 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, External ophth... |
OMIM:255320 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Proximal muscle weakness, Calf muscle hypertrophy, Shoul... |
ORPHA:34515 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Ge... |
ORPHA:75840 |
Congenital Myopathy 10A, Severe Variant |
|
Poor head control, Facial palsy, Camptodactyly of finger, Diaphragmatic paralysis, Increased vari... |
OMIM:614399 |
Spastic Ataxia 1, Autosomal Dominant |
|
Spastic ataxia, Ptosis, Gait disturbance, Leg muscle stiffness |
OMIM:108600 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Skeletal muscle atrophy, Distal muscle weakness, Ataxia, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:101078 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Gowers sign, Flexion contracture, Proximal muscle weakness in lower limb... |
OMIM:310440 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Generalized muscle weakness, Increased variability in... |
OMIM:611705 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Hypoglycosylation of alpha-dystroglycan, Ankle flexion contracture, Gowers sign, Limb-girdle musc... |
OMIM:613818 |
Muscle Filaminopathy |
|
Scapular winging, Neck flexor weakness, Fatty replacement of skeletal muscle, Abnormality of mast... |
ORPHA:171445 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Inability to walk, Increased variability in muscle fiber diameter, Ataxia, Gait ataxia |
OMIM:617915 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Hypoglycosylation of alpha-dystroglycan, Ataxia, Proximal muscle weakness, Progressive muscle wea... |
OMIM:620166 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Waddling gait, Broad-based gait, Calf muscle hypertrophy, Myopathy, Difficulty walking, Pelvic gi... |
ORPHA:119 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... |
OMIM:613954 |
Congenital Myopathy 15 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... |
OMIM:620161 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Bulbar palsy, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, R... |
OMIM:255310 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Proximal muscle weakness, Quadriceps muscle weakness, I... |
ORPHA:206546 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Neck flexor weakness, Weakness of long finger extensor muscles, Upper li... |
ORPHA:98913 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Total ophthalmoplegia, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Neck flexor... |
OMIM:157640 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... |
OMIM:620310 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Ataxia, Increased intramyocellular lipid droplets |
OMIM:619065 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Conjunctival telangiectasia, Short stature, Absent pubertal growth spurt, Congenital diaphragmati... |
OMIM:615919 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Poor head control, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Respi... |
ORPHA:486815 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Distal muscle weakness, Ataxia, Proximal muscle weakness, External ophthalmoplegia, Weakness of f... |
OMIM:618637 |
Childhood-Onset Nemaline Myopathy |
|
Waddling gait, Scapular winging, Spinal rigidity, Respiratory insufficiency due to muscle weaknes... |
ORPHA:171439 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... |
OMIM:615422 |
Typical Nemaline Myopathy |
|
Neck flexor weakness, Short neck, Fatigable weakness of distal limb muscles, Limb-girdle muscle w... |
ORPHA:171436 |
Marcus Gunn Phenomenon |
|
Unilateral ptosis, Congenital ptosis |
OMIM:154600 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Broad-based gait, Ataxia, Bilatera... |
OMIM:616479 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Kyphoscoliosis, Ankle flex... |
OMIM:616668 |
Nemaline Myopathy 8 |
|
Facial palsy, Flexion contracture, Ophthalmoparesis, Myofibrillar myopathy, Nemaline bodies, Musc... |
OMIM:615348 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Li... |
OMIM:616812 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Poor head control, Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrop... |
OMIM:618323 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Flexion contra... |
OMIM:618484 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... |
OMIM:619903 |
Myasthenic Syndrome, Congenital, 16 |
|
Hyperlordosis, External ophthalmoplegia, Bilateral ptosis, Fatigable weakness, Gait disturbance, ... |
OMIM:614198 |
Hereditary Continuous Muscle Fiber Activity |
|
Ataxia, Spastic gait, Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Elbow contracture, Vertebral fusion, Facial palsy, Hyperlordosis, Should... |
OMIM:606612 |
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency |
|
Facial palsy, Gowers sign, Ophthalmoplegia, Generalized muscle weakness, Fatigable weakness, Neck... |
OMIM:616325 |
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria |
|
Ophthalmoplegia, Abnormal mitochondria in muscle tissue, Muscle weakness, Ptosis |
OMIM:258470 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Distal muscle weakness, Kyphoscoliosis, Proximal muscle weakness, Upper limb muscle weakness, Dis... |
OMIM:605588 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Congenital Myopathy 24 |
|
Scapular winging, Facial palsy, Gowers sign, Type 1 muscle fiber predominance, Nemaline bodies, M... |
OMIM:617336 |
Muscular Dystrophy, Congenital, With Rapid Progression |
|
Congenital muscular dystrophy, Muscle weakness |
OMIM:254100 |
Myasthenic Syndrome, Congenital, 4B, Fast-Channel |
|
Fatigable weakness of skeletal muscles, Ophthalmoplegia, Neck muscle weakness, Weakness of facial... |
OMIM:616324 |
Arts Syndrome |
|
Growth delay, Progressive muscle weakness, Ataxia |
OMIM:301835 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Respiratory insufficiency due to muscle weakness, Myopathy, Increased variability in muscle fiber... |
OMIM:616816 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Muscle weakness, Abnormal muscle fiber protein expression |
ORPHA:330054 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Congenital muscular dystrophy, Gait disturbance, Ptosis |
ORPHA:1875 |
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency |
|
Gowers sign, Generalized muscle weakness, Falls, Arthrogryposis multiplex congenita, Ptosis |
OMIM:616326 |
Central Core Disease |
|
Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, M... |
ORPHA:597 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Bulbar palsy, Neck flexor weakness, Facial palsy, Proximal muscle weakness, Respiratory insuffici... |
OMIM:161800 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Short neck, Respiratory insufficiency due to muscle weakness, Kyphosis, ... |
OMIM:611890 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Increased variability in muscle fiber diameter, Generalized muscle weakness |
OMIM:614096 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Ataxia, Kyphosis, Distal upper limb amyotrophy, Gait disturbance, S... |
ORPHA:101075 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Distal muscle weakness, Short stature, Ataxia, Kyphosis, Ophthalmoplegia, Unsteady gait, Scoliosi... |
OMIM:618124 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Progressive external ophthalmoplegia, Ataxia, Limb-girdle muscle weakness, Bilateral ptosis, Vira... |
ORPHA:329314 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Kyphoscoliosis, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Ac... |
ORPHA:370980 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Short stature, Kyphoscoliosis, Short neck, Centrally nucleated skeletal mus... |
OMIM:619542 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... |
OMIM:617114 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Respiratory insufficiency due to mu... |
OMIM:608931 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Neck flexor weakness, Respiratory ... |
ORPHA:329336 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... |
ORPHA:352479 |
X-Linked Centronuclear Myopathy |
|
Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Fatigable weakness of... |
ORPHA:596 |
Amyotrophic Lateral Sclerosis 21 |
|
Bulbar palsy, Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Hand muscle wea... |
OMIM:606070 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Opht... |
OMIM:605809 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Muscle fiber hyaline bodies, Short stature, Centrally nucleated skeletal muscle fibers, Scapulope... |
OMIM:255160 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Inability to walk, Ragged-red muscle fibers, Ataxia, Athetosis |
OMIM:615159 |
Congenital Fiber-Type Disproportion Myopathy |
|
Progressive muscle weakness, Flexion contracture, Knee flexion contracture, Foot dorsiflexor weak... |
ORPHA:2020 |
Peroxisome Biogenesis Disorder 11B |
|
Progressive muscle weakness, Muscle weakness |
OMIM:614885 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Interphalangeal joint contractu... |
ORPHA:1145 |
Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Loss of ambulation, Poor head control, Generalized muscle weakness, Ptosis |
OMIM:616321 |
Immunoneurologic Disorder, X-Linked |
|
Neonatal death, Progressive proximal muscle weakness |
OMIM:300076 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Short stature, Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber... |
OMIM:226670 |
Infantile Refsum Disease |
|
Progressive muscle weakness, Short stature, Facial palsy, Ataxia |
ORPHA:772 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Short neck, Decreased cervical spine flexion due to contractures of posterior cervical... |
ORPHA:98863 |
Myasthenic Syndrome, Congenital, 3B, Fast-Channel |
|
Facial palsy, Ophthalmoplegia, Fatigable weakness, Neck muscle weakness, Muscle weakness, Ptosis |
OMIM:616322 |
Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Episodic flaccid weakness, Respiratory paralysis, Increased int... |
ORPHA:681 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter, Poor head control |
OMIM:613752 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Progressive proximal muscle weakness, Truncal ataxia, Myopathy, Limb-girdle muscular dystrophy, D... |
ORPHA:369847 |
Cdkl5-Deficiency Disorder |
|
Poor head control, Kyphosis, Synophrys, Growth delay, Gait disturbance, Scoliosis, Difficulty wal... |
ORPHA:505652 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Ophthalmoparesis, Fatigable weakn... |
OMIM:254210 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Kyphosis, Flexion contracture, Abnormality of the palpebral fissures, Axial muscle we... |
ORPHA:178148 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Progressive distal muscle weakness, Proximal muscle weakness, Fatty replacement of skeletal muscl... |
ORPHA:397744 |
Ptosis-Vocal Cord Paralysis Syndrome |
|
Severe short stature, Ptosis |
ORPHA:2997 |
Cap Myopathy |
|
Poor head control, Facial palsy, Abnormal muscle fiber morphology, Fatiguable weakness of proxima... |
ORPHA:171881 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers, Muscle weakness |
OMIM:616794 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Muscle weakness, Type ... |
OMIM:618276 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Distal muscle weakness, Diaphragmatic paralysis, Plantar flexion contrac... |
OMIM:620011 |
2p15-16.1 microdeletion syndrome |
|
Telecanthus, Downslanted palpebral fissures, Camptodactyly of finger, Ptosis |
DECIPHER:70 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmop... |
OMIM:615959 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Ataxia, Increased variability in muscle fiber diameter, Gait disturbance |
OMIM:125250 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa... |
ORPHA:98853 |
Ptosis, Hereditary Congenital 2 |
|
Ptosis |
OMIM:300245 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Short stature, Poor head control, Inter... |
ORPHA:324604 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Respiratory insufficiency due to muscle weakness, Gowers sign, Ragged-red muscle fibers, Limb mus... |
OMIM:609560 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Kyphosis, Skeletal muscle hypertrophy, Gait disturbance, Scoliosis, Muscle weakness |
ORPHA:99014 |
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors |
|
External ophthalmoplegia, Congenital ptosis, Fatigable weakness, Proximal muscle weakness |
OMIM:254190 |
Proximal Myopathy With Extrapyramidal Signs |
|
Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Ophthalmoplegia, Increased ... |
ORPHA:401768 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Broad-based gait, Lumbar hyperlordosis, Short stature, Ataxia, Kyphosis, Inability... |
OMIM:616756 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Vertebral fusion, Hyperlordosis, Proximal muscle weakness, Kyphosis, Achilles tend... |
OMIM:607155 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... |
OMIM:609308 |
Ptosis, Hereditary Congenital 1 |
|
Congenital ptosis |
OMIM:178300 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... |
ORPHA:254864 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Short stature, Interphalangeal joint contracture of finger, Knee flexion contracture, Intrauterin... |
OMIM:606242 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, G... |
ORPHA:57 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... |
OMIM:616867 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Proximal muscle weakness, Kyphosis, Ophthalm... |
OMIM:617143 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Ataxia, Bilateral ptosis, Inability to walk, Scoliosis, Downslanted palpebral fissures, Hypomimic... |
OMIM:619701 |
Fibrosis Of Extraocular Muscles, Congenital, 5 |
|
Ptosis |
OMIM:616219 |
Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... |
OMIM:619334 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Disproportionate short stature, Abnormal form of... |
ORPHA:40 |
Ptosis, Strabismus, And Ectopic Pupils |
|
Ptosis |
OMIM:178330 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Upslanted palpebral fissure, Epicanthus, Ptosis |
OMIM:620086 |
Oculomotor-Abducens Synkinesis |
|
Ptosis |
OMIM:619215 |
Congenital Myopathy 22A, Classic |
|
Thoracic scoliosis, Gowers sign, Synophrys, Ragged-red muscle fibers, Axial muscle weakness, Gene... |
OMIM:620351 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Proxima... |
OMIM:615352 |
Fazio-Londe Disease |
|
Facial diplegia, Bulbar palsy, Diaphragmatic weakness, Ptosis |
OMIM:211500 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Facial palsy, Gowers sign, Myopathy, Muscular dystrophy, Increased endomysial connective tissue, ... |
OMIM:602541 |
Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Progressive external ophthalmoplegia |
ORPHA:480 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Growth delay, Myopathy, Ragged-red muscle fibers |
OMIM:618242 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Short stature, Camptodactyly |
OMIM:618453 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Generalized muscle w... |
ORPHA:171433 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa... |
ORPHA:98855 |
Myasthenic Syndrome, Congenital, 22 |
|
Waddling gait, Short stature, Proximal muscle weakness, Muscle weakness, Ptosis |
OMIM:616224 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... |
ORPHA:536516 |
Myopathy, Myofibrillar, 8 |
|
Scapular winging, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Gowers sign, Achil... |
OMIM:617258 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... |
OMIM:123320 |
Arthrogryposis, Distal, Type 2B3 |
|
Short stature, Scoliosis, Camptodactyly, Downslanted palpebral fissures, Ptosis |
OMIM:618436 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Progressive external ophthalmoplegia, Facial palsy, Progressive muscle weakness, Limb muscle weak... |
OMIM:610131 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ataxia, Progressive muscle weakness, Ragged-red muscle fibers, Loss of ambulation, Decreased leve... |
OMIM:607426 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Ataxia, Kyphosis, Synophrys, Gait disturbance, Scoliosis, Muscle weakness |
ORPHA:85317 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers, Proximal muscle weakness |
OMIM:618416 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Short stature, Ataxia, Ophthalmoplegia, Ragged-red muscle fibers, Flexion contracture, Left ventr... |
OMIM:252011 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Proximal muscle weakness, Respiratory insu... |
OMIM:254090 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Epicanthus, Short stature |
ORPHA:85288 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis, Delayed puberty, Distichiasis |
ORPHA:2598 |
Spinocerebellar Ataxia 28 |
|
Ragged-red muscle fibers, Limb ataxia, Gait ataxia, Ophthalmoparesis, Lower limb hypertonia, Ptosis |
OMIM:610246 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Acute rhabdomyolysis, Camptodactyly of finger, Ataxia, Kyphosis, Dysmetria, Long e... |
ORPHA:48431 |
Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter, Athetosis |
OMIM:617235 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Respiratory insufficiency due... |
OMIM:301830 |
Congenital Myopathy 19 |
|
Skeletal muscle atrophy, Facial hypotonia, Respiratory insufficiency due to muscle weakness, Cong... |
OMIM:618578 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Distal muscle weakness, Prox... |
ORPHA:329478 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Facial pal... |
OMIM:258450 |
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Facial palsy, Ptosis |
OMIM:617732 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Fatigable weakness of skeletal muscles... |
ORPHA:206559 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Abnormal eyelid morphology, Limb ataxia, Generalized amyotrophy, Difficulty walki... |
ORPHA:251282 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Poor head control, Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Distal a... |
OMIM:617519 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Growth delay, General... |
OMIM:613561 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Disproportionate short-trunk short stature, Squared-off platyspo... |
OMIM:271530 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Congenital foot contractures, Distal amyotrophy, Scoliosis, Ptosis |
ORPHA:3454 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Skeletal muscle atrophy, Inability to walk, Bilateral ptosis, Scoliosis, Difficulty walking, Dela... |
ORPHA:330050 |
Triosephosphate Isomerase Deficiency |
|
Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Kyphosis, Progressive ... |
OMIM:615512 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Bulbar palsy, Distal muscle weakness, Abnormal morphology of musculature of pharynx, Ankle weakne... |
ORPHA:600 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Short stature, Ataxia, Facial myokymia |
OMIM:620007 |
Borjeson-Forssman-Lehmann Syndrome |
|
Ptosis, Short stature, Kyphosis, Narrow palpebral fissure, Scoliosis, Delayed puberty, Blepharoph... |
OMIM:301900 |
Myasthenic Syndrome, Congenital, 19 |
|
Bulbar palsy, Poor head control, Distal muscle weakness, Facial palsy, Proximal muscle weakness, ... |
OMIM:616720 |
Whistling Face Syndrome, Recessive Form |
|
Epicanthus, Telecanthus, Shoulder flexion contracture, Kyphoscoliosis, Short neck, Elbow flexion ... |
OMIM:277720 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy... |
OMIM:617228 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Distal muscle weakness, Short stature, Proximal muscle weakness, Fatty replacement of skeletal mu... |
ORPHA:52430 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Ptosis, Epicanthus, Thick eyebrow, Short stature, Highly arched eyebrow, Kyphosis, Upslanted palp... |
OMIM:615834 |
Arthrogryposis, Distal, Type 7 |
|
Arthrogryposis multiplex congenita, Distal arthrogryposis, Short stature, Ptosis |
OMIM:158300 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... |
OMIM:609813 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, External ophthalmoplegia, Proximal ... |
ORPHA:254886 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short stature, Disproportionat... |
OMIM:271630 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Ectropion, Short stature, Ataxia, Progressive proximal muscle weakness, Myopathy, Shoulder girdle... |
ORPHA:98907 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Epicanthus, Short stature, Scoliosis |
OMIM:300434 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Short stature, Ataxia, Kyphosis, Platyspondyly, Scoliosis, Anterior beak... |
OMIM:230650 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Progressive external ophthalmoplegia, Facial palsy, Spinal rigidi... |
OMIM:615084 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers, Ophthalmoparesis |
OMIM:500003 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Poor head control, Ataxia, Hypomimic face, Dysdiadochokinesis, Shuffling gait, Ptosis |
OMIM:618049 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Bulbar palsy, Ataxia, Facial palsy, Proximal muscle... |
OMIM:211530 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Progressive external ophthalmoplegia, Generalized muscle weakness, Ragged-red muscle fibers, Musc... |
OMIM:613662 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Epicanthus, Diastasis recti, Short neck, Progressive muscle weakness, Sy... |
ORPHA:488632 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Progressive external ophthalmoplegia, Broad-based gait, Neck flexor weakness, Ataxia, Proximal mu... |
OMIM:618098 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Dysmetria, Gait ataxia, Limb ataxia, Scoliosis, Ptosis |
OMIM:610743 |
Dk1-Cdg |
|
Progressive muscle weakness, Short stature |
ORPHA:91131 |
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Progressive truncal ataxia, Broad-based gait, Multiple joint contractures, Short stature, Dysmetr... |
ORPHA:363429 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Short stature, Highly arched eyebrow, Inability to walk, Growth delay, Ptosis |
ORPHA:438178 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Short stature, Postnatal growth retardation, Limb-girdle muscle weakness... |
ORPHA:79240 |
Neutral Lipid Storage Myopathy |
|
Short stature, Progressive distal muscle weakness, Hand muscle weakness, Fatty replacement of ske... |
ORPHA:98908 |
Amyotrophy, Hereditary Neuralgic |
|
Skeletal muscle atrophy, Epicanthus, Short stature, Upslanted palpebral fissure, Blepharophimosis... |
OMIM:162100 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Masa Syndrome |
|
Kyphosis, Short stature, Shuffling gait, Hyperlordosis |
OMIM:303350 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Ataxia, Proximal muscle weakness, Increased intramyocellular lipid droplets, Decreased level of c... |
OMIM:612016 |
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency |
|
Dysmetria, Gait ataxia, Dysdiadochokinesis, Limb dysmetria, Ptosis |
ORPHA:324262 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Short stature, Highly arched eyebrow, Ophthalmoplegia, EMG: myopathic abnormalities, Downslanted ... |
ORPHA:457365 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Fatiguable weakness of proximal limb muscles... |
ORPHA:206569 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture, Myopathy, Neonatal death, Intrauterine growth retardation |
OMIM:618237 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Choreoathetosis, Aplasia of the left hemidiaphragm, Scoliosis, Intrauterine growth retardation, P... |
OMIM:618238 |
Synaptic Congenital Myasthenic Syndromes |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Ptosis, Poor head control, Facial palsy... |
ORPHA:98915 |
Wernicke-Korsakoff Syndrome |
|
Ophthalmoplegia, Ataxia, Ptosis |
OMIM:277730 |
Richieri Costa-Da Silva Syndrome |
|
Decreased muscle mass, Short stature, Diastasis recti, Kyphoscoliosis, Short neck, Inability to w... |
ORPHA:3101 |
Sandhoff Disease |
|
Kyphosis, Ataxia, Muscle weakness |
ORPHA:796 |
Microcephaly 16, Primary, Autosomal Recessive |
|
Ptosis, Telecanthus, Short stature, Knee flexion contracture |
OMIM:616681 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Facial palsy, Ophthalmoplegia, Ophthalmoparesis, Oculomotor nerve palsy, Ptosis |
ORPHA:2743 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Generalized muscle weakness, ... |
OMIM:620278 |
Congenital Myasthenic Syndrome |
|
Limb-girdle muscle weakness, Muscle fiber atrophy, Frontalis muscle weakness, Waddling gait, Bulb... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Limb-girdle muscle weakness, Muscle fiber atrophy, Frontalis muscle weakness, Waddling gait, Bulb... |
ORPHA:98914 |
Mcdonough Syndrome |
|
Short stature, Kyphosis, Synophrys, Aplasia/Hypoplasia of the abdominal wall musculature, Scolios... |
ORPHA:2471 |
Benign Samaritan Congenital Myopathy |
|
Lethargy, Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Synophrys, Gait disturbance, Scoliosis, Thick eyebrow |
ORPHA:2429 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Progressive external ophthalmoplegia, Spinal rigidity, Respirator... |
ORPHA:352447 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Scapular winging, Poor head control, Ankle flexion contracture, Flexion contract... |
OMIM:617468 |
Hypertrichosis Cubiti |
|
Severe short stature, Rhizomelia, Abnormal nasolacrimal system morphology, Abnormal eyelid morpho... |
ORPHA:2220 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Poor head control, Ankle flexion contracture, Lower limb hypertonia, Type 1 musc... |
ORPHA:319514 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Progressive proximal mu... |
ORPHA:368 |
Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Distal muscle weakness, Rhabdomyolysis, Ophthalmoparesis, Myopathy, Incr... |
OMIM:255125 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Progressive external ophthalmoplegia, Ataxia, Left ventricular noncompaction, Muscle weakness, Pt... |
OMIM:615917 |
Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Short neck, Kyphosis, Camptodactyly, Neonatal death, Arthrogryposis mult... |
OMIM:618393 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Hyperlordosis, Respiratory ins... |
ORPHA:365 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Growth delay, Increased variability in muscle fiber diameter, External ophthalmoplegia, Flexion c... |
OMIM:619026 |
Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Cervical kyphosis, Short neck, Quadriceps muscle weakness, Wrist flexion... |
OMIM:255800 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Downslanted palpebral fissures, Kyphosis, Short stature, Scoliosis |
ORPHA:276630 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Poor head control, Generalized limb muscle atrophy, Musc... |
OMIM:615351 |
Trismus-Pseudocamptodactyly Syndrome |
|
Short stature, Ptosis |
ORPHA:3377 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Left ve... |
OMIM:619040 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Epicanthus, Short stature, Highly arched eyebrow, Kyphosis, Bilateral ptosis, Upslanted palpebral... |
ORPHA:352490 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, External ophthalmoplegia, Growth delay, Choreoathetosis, Lumbar kyphoscoliosis, Muscle we... |
OMIM:619422 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Ataxia, Dysmetria, Distal amyotrophy, Dysdiadochokinesis, Increased intramyocellu... |
OMIM:614487 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Short stature, Thoracolumbar scoliosis, Short neck, Flexion contracture, Myopathy, Cervical C2/C3... |
OMIM:616549 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Short stature, Inability to walk, Dysmetria, Gait ataxia, Dysdiadochokinesis, Ptosis |
OMIM:614831 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Waddling gait, Kyphosis, Short stature |
OMIM:618392 |
Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Lumbar hyperlordosis, Short stature, Thoracolumbar scoliosis, Kyphoscolios... |
OMIM:114300 |
Hiatt-Neu-Cooper Neurodevelopmental Syndrome |
|
Epicanthus, Horizontal eyebrow, Ptosis |
OMIM:619311 |
Proximal Xq28 Duplication Syndrome |
|
Epicanthus, Short stature, Gait disturbance, Blepharophimosis, Ptosis |
ORPHA:1762 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, External oph... |
ORPHA:169189 |
Cornelia De Lange Syndrome 2 |
|
Short stature, Highly arched eyebrow, Short neck, Postnatal growth retardation, Synophrys, Long e... |
OMIM:300590 |
Glycogen Storage Disease Xv |
|
Scapular winging, Muscle weakness, Type 1 muscle fiber predominance |
OMIM:613507 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome |
|
Epicanthus, Synophrys, Abnormal lacrimal duct morphology, Blepharophimosis, Ptosis |
ORPHA:126 |
Spinocerebellar Ataxia With Epilepsy |
|
Dysmetria, Gait ataxia, Ophthalmoparesis, Myopathy, Progressive cerebellar ataxia, Dysdiadochokin... |
ORPHA:254881 |
Arthrogryposis, Distal, Type 5 |
|
Decreased muscle mass, Epicanthus, Short stature, Kyphosis, Ophthalmoplegia, Distal arthrogryposi... |
OMIM:108145 |
Adult Intestinal Botulism |
|
Respiratory insufficiency due to muscle weakness, Diaphragmatic paralysis, Muscle weakness, Ptosis |
ORPHA:178487 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Small thenar eminence, Distal lower limb muscle weakness, Tendon rupture, Fiber... |
OMIM:620080 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Congenital ptosis, Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Bruck Syndrome 1 |
|
Hip contracture, Short stature, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, V... |
OMIM:259450 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... |
OMIM:616866 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Spastic gait, Scoliosis, Upper limb dysmetria, Limb muscle weakness, Lower limb muscle ... |
OMIM:614409 |
Hemifacial Atrophy, Progressive |
|
Blepharophimosis, Kyphosis, Ataxia, Horner syndrome |
OMIM:141300 |
Spastic Paraplegia Type 7 |
|
Upper limb muscle weakness, Lower limb hypertonia, Ragged-red muscle fibers, Lower limb muscle we... |
ORPHA:99013 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Distal muscle weakness, Ataxia, Lower limb muscle weakness, Dysmetria, Distal amyotrophy, Dysdiad... |
ORPHA:313772 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Ataxia, Kyphosis, Synophrys, Unsteady gait, Scoliosis |
OMIM:300861 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Bulbar palsy, Ataxia, Inability to walk, Ophthalmopl... |
ORPHA:254930 |
Zimmermann-Laband Syndrome 2 |
|
Short stature, Short neck, Kyphosis, Synophrys, Macroglossia, Long eyelashes, Thick eyebrow |
OMIM:616455 |
Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Ptosis |
OMIM:605407 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy... |
OMIM:619574 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Ophthalmoplegia, Ragged-red muscle fibers |
OMIM:540000 |
Spinocerebellar Ataxia Type 28 |
|
Gait ataxia, Ophthalmoparesis, Limb ataxia, Ptosis |
ORPHA:101109 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Abnormality of the musculature of the lower limbs, Short stature, Absent pubertal ... |
ORPHA:464282 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Epicanthus, Short stature, Scoliosis, Delayed puberty, Ptosis |
ORPHA:1825 |
Sialidosis Type 2 |
|
Skeletal muscle atrophy, Short stature, Ataxia, Kyphosis, Flexion contracture, Muscle weakness |
ORPHA:87876 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... |
OMIM:310300 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ... |
OMIM:615418 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Lower limb hypertonia, Gait disturbance, Upper limb hypertonia |
OMIM:614898 |
Fibrosis Of Extraocular Muscles, Congenital, 1 |
|
Superior rectus atrophy, Levator palpebrae superioris atrophy, Bilateral ptosis, Restrictive exte... |
OMIM:135700 |
Trisomy 5P |
|
Short stature, Scoliosis, Ptosis |
ORPHA:1742 |
Coffin-Siris Syndrome 8 |
|
Thick eyebrow, Long eyelashes, Scoliosis, Ptosis |
OMIM:618362 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Inability to walk, Dysmetria, Limb ataxia, Distal amyotrophy, Dysdiadochokinesis, Difficu... |
OMIM:617675 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Synophrys, Flexion contracture, Long eyelashes, Thick eyebrow |
OMIM:618658 |
Oculopharyngodistal Myopathy 1 |
|
Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal muscle weakness, External oph... |
OMIM:164310 |
Microphthalmia, Syndromic 13 |
|
Short stature, Kyphoscoliosis, Ptosis |
OMIM:300915 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Kyphoscoliosis, Hand muscle weakness, Inability to walk,... |
ORPHA:99956 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Epicanthus, Short stature, Ptosis |
ORPHA:1373 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Short stature, Increased sarcoplasmic glycogen, Progressive muscle weakn... |
ORPHA:264580 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Thenar muscle atrophy, Distal upper limb muscle weakness, Distal lo... |
OMIM:500013 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Skeletal muscle atrophy, Broad-based gait, Distal muscle weakness, Short stature, Ataxia, Progres... |
OMIM:256810 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Limb ataxia, Gait ataxia, Hypomimic face, Ptosis |
OMIM:619862 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Ptosis, Short stature, Synophrys, Weak extraocular muscles, Blepharophimosis, Thick eyebrow, Fron... |
OMIM:210745 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Progressive external ophthalmoplegia, Ragged-red muscle fibers, Muscle weakness, Ophthalmoparesis |
ORPHA:1349 |
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Nonprogressive restrictive external ophthalmoplegia, Camptodactyly of finger, Facial palsy, Super... |
OMIM:600638 |
Optic Atrophy 11 |
|
Ataxia, Gait apraxia, Dysmetria, Facial diplegia, Athetosis, Increased variability in muscle fibe... |
OMIM:617302 |
Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Bulbar palsy, Ataxia, Facial palsy, Limb muscle weakness, Muscle weaknes... |
ORPHA:97229 |
Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
External ophthalmoplegia, Torticollis, Scoliosis, Ptosis |
OMIM:618155 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hyperlordosis, Kyphosis, Synophrys, Upslanted palpebral fissure, Scoliosis, Downsl... |
OMIM:615761 |
Kleefstra Syndrome 2 |
|
Growth delay, Kyphosis, Thick eyebrow, Scoliosis |
OMIM:617768 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Distal muscle weakness, Short stature, Facial palsy, Short neck, Kyphosis, Achil... |
OMIM:301041 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Respiratory insufficiency due to muscle weakness, Elbow flexion contra... |
OMIM:619461 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Severe short stature, Thoracolumbar scoliosis, Kyphosis, Knee flexion contractur... |
OMIM:313420 |
Congenital Myopathy 13 |
|
Skeletal muscle atrophy, Telecanthus, Short stature, Kyphoscoliosis, Proximal muscle weakness, Fa... |
OMIM:255995 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Waddling gait, Left ventricular hypertrophy, Kyphoscoliosis, Kyphosis, Synophrys, Skeletal muscle... |
OMIM:300280 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Truncal ataxia, Dysmetria, Tortuosity of conjunctival vessels, Limb ataxia, Progressive cerebella... |
ORPHA:284289 |
Wieacker-Wolff Syndrome |
|
Short stature, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, U... |
OMIM:314580 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Distal muscle we... |
OMIM:607459 |
Ck Syndrome |
|
Epicanthus, Hyperlordosis, Almond-shaped palpebral fissure, Kyphosis, Upslanted palpebral fissure... |
OMIM:300831 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Ophthalmoplegia, Knee flexion contracture, Distal arthrogryposis, Camptodactyly, Muscle weakness,... |
OMIM:618198 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Short stature, Proximal muscle weakness, Gowers sign, Increased variability in muscle fiber diame... |
ORPHA:502423 |
Glycogen Storage Disease Vii |
|
Increased muscle glycogen content, Increased variability in muscle fiber diameter, Muscle weakness |
OMIM:232800 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Distal muscle weakness, Flexion contracture, Unsteady gait, Generalized limb musc... |
ORPHA:137898 |
Houge-Janssens Syndrome 1 |
|
Congenital muscular torticollis, Facial hypotonia, Gait ataxia, Scoliosis, Intrauterine growth re... |
OMIM:616355 |
Ophthalmoplegia Totalis With Ptosis And Miosis |
|
Ophthalmoplegia, Ptosis |
OMIM:258400 |
Hypotonia-Cystinuria Syndrome |
|
Postnatal growth retardation, Ragged-red muscle fibers, Facial palsy, Muscle weakness |
OMIM:606407 |
Distal Duplication 15Q |
|
Congenital muscular torticollis, Camptodactyly of finger, Short neck, Blepharophimosis, Intrauter... |
ORPHA:1707 |
Hengel-Maroofian-Schols Syndrome |
|
Epicanthus, Short stature, Foot joint contracture, Inability to walk, Synophrys, Gait imbalance, ... |
OMIM:619641 |
Retinal Dystrophy With Leukodystrophy |
|
Waddling gait, Proximal muscle weakness, Bilateral ptosis, Gowers sign, Dysmetria, Falls |
OMIM:618863 |
Autosomal Recessive Ataxia, Beauce Type |
|
Skeletal muscle atrophy, Ataxia, Kyphosis, Dysmetria, Ophthalmoparesis, Gait disturbance, Scolios... |
ORPHA:88644 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Generalized limb muscle atrophy, Facial diplegia, Steppage gait, Lower limb muscle weakness, Foot... |
ORPHA:521411 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Axial muscle weaknes... |
ORPHA:171430 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content, Muscle weakness |
ORPHA:228302 |
Proteus Syndrome |
|
Kyphoscoliosis, Spinal canal stenosis, Limbal dermoid, Downslanted palpebral fissures, Ptosis |
OMIM:176920 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Short stature, Facial palsy, Abnormal muscle fiber morphology, Ophthalmo... |
ORPHA:3068 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Epicanthus, Facial hypotonia, Short neck, Inability to walk, Scoliosis, Intraute... |
OMIM:616801 |
3Mc Syndrome |
|
Ptosis, Telecanthus, Diastasis recti, Highly arched eyebrow, Hyperlordosis, Postnatal growth reta... |
ORPHA:293843 |
Native American Myopathy |
|
Skeletal muscle atrophy, Short stature, Bilateral ptosis, Abnormality of skeletal muscle fiber si... |
ORPHA:168572 |
Hall-Riggs Syndrome |
|
Epicanthus, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intrauterine growt... |
OMIM:234250 |
Spinocerebellar Ataxia 36 |
|
Skeletal muscle atrophy, Ataxia, Limb ataxia, Gait ataxia, Truncal ataxia, Muscle weakness, Ptosis |
OMIM:614153 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Progressive external ophthalmoplegia, Ataxia, Gait ataxia, Myopathy, Ptosis |
OMIM:613077 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rhizom... |
ORPHA:1354 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Ptosis, Sacral dimple, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral ver... |
ORPHA:2064 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Poor head control, Type 1 muscle fiber predominan... |
OMIM:612949 |
Combined Oxidative Phosphorylation Deficiency 7 |
|
Skeletal muscle atrophy, Ataxia, External ophthalmoplegia, Ophthalmoplegia, Facial diplegia, Faci... |
OMIM:613559 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers |
ORPHA:477774 |
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Growth delay, Highly arched eyebrow, Ptosis |
OMIM:616154 |
Joubert Syndrome 36 |
|
Highly arched eyebrow, Ptosis |
OMIM:618763 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Severe short stature, Limb joint con... |
ORPHA:93314 |
Ophthalmoplegia, Familial Total, With Iris Transillumination |
|
Total ophthalmoplegia, External ophthalmoplegia, Internal ophthalmoplegia, Ptosis |
OMIM:165098 |
Diabetes And Deafness, Maternally Inherited |
|
External ophthalmoplegia, Unsteady gait, Ptosis |
OMIM:520000 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Inability to wal... |
OMIM:128100 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Poor head control, Ataxia, Hypomimic face, Dysdiadochokinesis, Gait disturbance, Shuffling gait, ... |
ORPHA:352649 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Proximal muscle weakness, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Muscle fi... |
ORPHA:369840 |
Freeman-Sheldon Syndrome |
|
Short stature, Camptodactyly of finger, Growth delay, Scoliosis, Downslanted palpebral fissures, ... |
ORPHA:2053 |
Bruck Syndrome |
|
Short stature, Kyphosis, Platyspondyly, Scoliosis, Arthrogryposis multiplex congenita, Pterygium |
ORPHA:2771 |
Neurofibromatosis-Noonan Syndrome |
|
Downslanted palpebral fissures, Abdominal wall muscle weakness, Short stature, Ptosis |
ORPHA:638 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Ptosis, Growth delay, Hypomimic face, Muscle weakness, Limb hypertonia |
ORPHA:70594 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Bulbar palsy, Distal muscle weakness, Proximal muscle weakness, Progressive cerebellar ataxia, Ge... |
ORPHA:275872 |
Atypical Rett Syndrome |
|
Total ophthalmoplegia, Kyphosis, Inability to walk, Gait ataxia, Growth delay, Gait disturbance, ... |
ORPHA:3095 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Skeletal muscle atrophy, Short stature, Ptosis |
ORPHA:2013 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Epicanthus, Synophrys, Scoliosis, Downslanted palpebral fissures, Ptosis |
ORPHA:1390 |
Non-Distal Deletion 10Q |
|
Epicanthus, Ataxia, Synophrys, Upslanted palpebral fissure, Gait disturbance, Ptosis |
ORPHA:1581 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Vertebral fusion, Hip contracture, Ptosis, Short stature, Elbow contracture, Multiple pterygia, S... |
OMIM:178110 |
Myopathy With Extrapyramidal Signs |
|
Epicanthus, Ataxia, Short neck, Proximal muscle weakness, Gowers sign, Growth delay, Calf muscle ... |
OMIM:615673 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Epicanthus, Almond-shaped palpebral fissure, Synophrys, Upslanted palpebral fissure, Gait disturb... |
ORPHA:589905 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Poor head control, Short stature, Ataxia, Unsteady gait, Limb hypertonia, Difficulty walking, Dow... |
ORPHA:442835 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Myopathy, Increased variability in muscle fiber diameter, Lethargy |
OMIM:604377 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Epicanthus, Poor head control, Thick eyebrow, Ptosis |
ORPHA:444002 |
Metatropic Dysplasia |
|
Relatively short spine, Severe short stature, Kyphoscoliosis, Hypoplasia of the odontoid process,... |
OMIM:156530 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Ophthalmoplegia, Ophthalmoparesis, Fatigable weakness, Myopathy, Muscle flaccidity, Oculomotor ne... |
ORPHA:257 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size |
ORPHA:2348 |
Ring Chromosome 1 Syndrome |
|
Telecanthus, Downslanted palpebral fissures, Ptosis |
ORPHA:1437 |
Myasthenia, Limb-Girdle, Autoimmune |
|
Fatigable weakness, Type 2 muscle fiber atrophy, Ophthalmoparesis, Proximal amyotrophy |
OMIM:159400 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Proximal muscle weakness, Ragged-red muscle fibers, Myopathy, Weakness o... |
OMIM:616239 |
Fibrosis Of Extraocular Muscles, Congenital, 2 |
|
Congenital fibrosis of extraocular muscles, Restrictive external ophthalmoplegia, Bilateral ptosis |
OMIM:602078 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Short stature, Ataxia, Kyphosis, Abnormal form of the vertebral bodies, ... |
ORPHA:812 |
9Q21.13 Microdeletion Syndrome |
|
Postnatal growth retardation, Vertebral segmentation defect, Scoliosis, Difficulty walking, Long ... |
ORPHA:531151 |
Baralle-Macken Syndrome |
|
Upslanted palpebral fissure, Kyphosis, Inability to walk |
OMIM:619255 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Short stature |
ORPHA:2786 |
Joubert Syndrome 26 |
|
Short stature, Ptosis |
OMIM:616784 |
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Short stature, Highly arched eyebrow, Synophrys, Blepharophimosis, Thick eyebrow, Ptosis |
ORPHA:2057 |
Danon Disease |
|
Myocardial necrosis, Distal muscle weakness, Proximal muscle weakness, Lower limb amyotrophy, EMG... |
OMIM:300257 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Waddling gait, Proximal muscle weakness, Limb-girdle muscle weakness, Gowers sign, Rhabdomyolysis... |
OMIM:251900 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Proximal muscle weaknes... |
ORPHA:70595 |
Pparg-Related Familial Partial Lipodystrophy |
|
Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus... |
ORPHA:79083 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Poor head control |
OMIM:615595 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Distal muscle weakness, Neck flexor weakness, Proximal muscle weakness, ... |
ORPHA:300605 |
Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Flexion contracture of finger, Ptosis, Epicanthus, Shoulder flexion contracture,... |
OMIM:193700 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Disproportio... |
OMIM:313400 |
Schaaf-Yang Syndrome |
|
Thick eyebrow, Short stature, Kyphosis, Inability to walk, Flexion contracture, Scoliosis, Campto... |
OMIM:615547 |
Birk-Landau-Perez Syndrome |
|
Ptosis, Camptocormia, Facial hypotonia, Limb ataxia, Growth delay, Upslanted palpebral fissure, C... |
OMIM:617595 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Downslanted palpebral fissures |
OMIM:618512 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Severe short stature, Kyphosis, Vertebral segmentation defect, Scoliosis, Ptosis |
ORPHA:2617 |
Autism, Susceptibility To, X-Linked 6 |
|
Ptosis |
OMIM:300872 |
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome |
|
Ophthalmoplegia, Ptosis |
ORPHA:83619 |
Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
Jaberi-Elahi Syndrome |
|
Broad-based gait, Distal muscle weakness, Sparse eyelashes, Sparse eyebrow, Kyphosis, Inability t... |
OMIM:617988 |
Arthrogryposis, Distal, Type 5D |
|
Decreased muscle mass, Short stature, Highly arched eyebrow, Hyperlordosis, Short neck, Lagophtha... |
OMIM:615065 |
Glycogen Storage Disease Xii |
|
Short stature, Myopathy, Delayed puberty, Increased variability in muscle fiber diameter, Muscle ... |
OMIM:611881 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Kyphosis,... |
ORPHA:2635 |
Coffin-Siris Syndrome 3 |
|
Short stature, Central diaphragmatic hernia, Macroglossia, Long eyelashes, Scoliosis, Intrauterin... |
OMIM:614608 |
Ophthalmoplegia, External, And Myopia |
|
Ophthalmoplegia, Ptosis |
OMIM:311000 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Skeletal muscle atrophy, Inability to walk, Flexion contracture, Facial diplegia, Scoliosis, Limb... |
OMIM:218000 |
4Q21 Microdeletion Syndrome |
|
Short neck, Kyphosis, Synophrys, Growth delay, Long eyelashes, Scoliosis, Intrauterine growth ret... |
ORPHA:238750 |
Sclerosteosis |
|
Facial palsy, Ptosis |
ORPHA:3152 |
Cornelia De Lange Syndrome 5 |
|
Telecanthus, Short stature, Highly arched eyebrow, Short neck, Postnatal growth retardation, Syno... |
OMIM:300882 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Ptosis, Short stature, Growth delay, Camptodactyly, Blepharophimosis, Cervical C2/C3 vertebral fu... |
OMIM:617333 |
Genetic Recurrent Myoglobinuria |
|
Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Fatiga... |
ORPHA:99845 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... |
OMIM:265000 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Kyphoscoliosis, Inability to walk, Choreoathetosis, Joint contracture, Ptosis |
OMIM:617664 |
Greig Cephalopolysyndactyly Syndrome |
|
Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology |
OMIM:175700 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Sacral dimple, Epicanthus, Short stature, Highly arched eyebrow, Postnatal growth retardation, Sy... |
OMIM:613792 |
Baraitser-Winter Syndrome 2 |
|
Telecanthus, Short stature, Highly arched eyebrow, Short neck, Long palpebral fissure, Ptosis |
OMIM:614583 |
Kearns-Sayre Syndrome |
|
Progressive external ophthalmoplegia, Short stature, Ataxia, Ragged-red muscle fibers, Muscle wea... |
OMIM:530000 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Myopathy, Scoliosis |
OMIM:618234 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Progressive external ophthalmoplegia, Ataxia, Bilateral ptosis, Limb-girdle muscle weakness, Myop... |
ORPHA:1215 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Short stature, Loss of ability to walk in early childhood, Respiratory i... |
OMIM:612073 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Epicanthus, Palpebral edema, Kyphosis, Growth delay, Macroglossia, Scoliosis, Blepharophimosis, D... |
ORPHA:261144 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Flexion contracture, Genera... |
OMIM:613327 |
Mosaic Trisomy 14 |
|
Blepharophimosis, Ptosis, Camptodactyly of finger, Short neck |
ORPHA:1703 |
Leukodystrophy, Hypomyelinating, 20 |
|
Torticollis, Scoliosis, Ptosis |
OMIM:619071 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Short stature, Camptodactyly of finger, Hyperlordosis, Vertebral segmentation defect, Scoliosis, ... |
ORPHA:1323 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Muscle fiber atrophy, Flexion contracture |
OMIM:620240 |
Char Syndrome |
|
Thick eyebrow, Highly arched eyebrow, Ptosis |
OMIM:169100 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... |
OMIM:616503 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased muscle mass, Distal muscle weakness, External ophthalmoplegia, Ragged-red muscle fibers... |
ORPHA:298 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Short stature, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Ptosis |
ORPHA:2522 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Epicanthus, Short stature, Sparse eyebrow, Downslanted palpebral fissures, Ptosis |
OMIM:619989 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Epicanthus, Short neck, Postnatal growth retardation, Kyphosis, Congenital... |
OMIM:248700 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Severe short stature, Scoliosis |
OMIM:112350 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Generalized muscle weakness, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy |
OMIM:619424 |
Terminal Osseous Dysplasia |
|
Epicanthus, Multiple joint contractures, Telecanthus, Camptodactyly of finger, Upslanted palpebra... |
OMIM:300244 |
Myasthenia Gravis |
|
Facial palsy, Proximal muscle weakness, Fatigable weakness, Limb muscle weakness, Ptosis |
OMIM:254200 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Kyphosis, Flexion contracture, Distal amyotrophy, Scoliosis |
OMIM:609541 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Epicanthus, Distal muscle weakness, Facial palsy, Hypoplasia of the musc... |
OMIM:254940 |
Li-Campeau Syndrome |
|
Telecanthus, Short stature, Downslanted palpebral fissures, Thick eyebrow, Ptosis |
OMIM:619189 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Upper limb hypertonia |
ORPHA:319199 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Epicanthus, Telecanthus, Short stature, Camptodactyly of finger, Multipl... |
ORPHA:2990 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Bulbar palsy, Ataxia, Proximal muscle weakness, Ptosis |
OMIM:615911 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Poor head control, Muscular dystrophy |
OMIM:616538 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Distal muscle weakness, Facial hypotonia, Short stature, Kyphosis, Scoliosis, Eversion of lateral... |
ORPHA:364028 |
Ruvalcaba Syndrome |
|
Short stature, Kyphosis, Scoliosis, Delayed puberty, Downslanted palpebral fissures |
OMIM:180870 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Congenital muscular torticollis, Epicanthus, Short stature, Kyphosis, Hemiverte... |
ORPHA:2916 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy |
|
Flexion contracture, Long eyelashes, Muscle weakness, Ptosis |
OMIM:619076 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Ataxia, Ophthalmoplegia, Dysmetria, Muscle weakness, Ptosis |
OMIM:618170 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Epicanthus, Telecanthus, Sparse eyebrow, Thick eyebrow, Ptosis |
OMIM:617268 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Scoliosis, Mild sh... |
OMIM:130060 |
Pontocerebellar Hypoplasia, Type 16 |
|
Ptosis, Skeletal muscle atrophy, Scoliosis, Limb hypertonia |
OMIM:619527 |
Urban-Rogers-Meyer Syndrome |
|
Epicanthus, Short stature, Camptodactyly of finger, Short neck, Kyphosis, Upslanted palpebral fis... |
ORPHA:3409 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Proximal amyotrophy, Proximal muscle weakness, Muscle fiber splitting |
OMIM:606408 |
3Mc Syndrome 2 |
|
Ptosis, Torticollis, Diastasis recti, Hypoplasia of the musculature, Partial abdominal muscle age... |
OMIM:265050 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:615433 |
Wagr Syndrome |
|
Short stature, Scoliosis, Ptosis |
ORPHA:893 |
Legius Syndrome |
|
Ptosis, Epicanthus, Downslanted palpebral fissures, Short neck |
OMIM:611431 |
Juberg-Hayward Syndrome |
|
Abnormal eyebrow morphology, Severe short stature, Highly arched eyebrow, Scoliosis, Intrauterine... |
ORPHA:2319 |
Spinocerebellar Ataxia 47 |
|
Ataxia, Short stature, Dysmetria, Ptosis |
OMIM:617931 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Gait ataxia, Kyphosis, Inability to walk, Limb hypertonia |
ORPHA:500180 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Ophthalmoplegia, Ataxia, Ptosis |
OMIM:618225 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Short stature, Scoliosis |
ORPHA:1858 |
Chromosome Xq13 Duplication Syndrome |
|
Medial flaring of the eyebrow, Epicanthus, Highly arched eyebrow, Almond-shaped palpebral fissure... |
OMIM:301069 |
Shashi-Pena Syndrome |
|
Ptosis, Epicanthus, Highly arched eyebrow, Kyphosis, Synophrys, Long eyelashes, Scoliosis, Cervic... |
OMIM:617190 |
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Blepharophimosis, Telecanthus, Ptosis |
OMIM:606772 |
Hypotonia-Cystinuria Syndrome |
|
Growth delay, Epicanthus, Ptosis |
ORPHA:163690 |
Warburg Micro Syndrome 1 |
|
Short stature, Kyphoscoliosis, Ptosis |
OMIM:600118 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Short stature, Ataxia, Ptosis |
ORPHA:1933 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Short stature, Kyphosis, Macroglossia, Scoliosis, Achalasia |
ORPHA:79107 |
Arthrogryposis, Distal, Type 1A |
|
Hip contracture, Short stature, Elbow flexion contracture, Knee flexion contracture, Scoliosis, C... |
OMIM:108120 |
Cockayne Syndrome Type 2 |
|
Ataxia, Kyphosis, Flexion contracture, Conjunctivitis, Gait disturbance, Scoliosis, Difficulty wa... |
ORPHA:90322 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Gait disturbance |
ORPHA:85193 |
Ververi-Brady Syndrome |
|
Short stature, Unsteady gait, Upslanted palpebral fissure, Scoliosis, Intrauterine growth retarda... |
OMIM:617982 |
15Q24 Microdeletion Syndrome |
|
Epicanthus, Short stature, Congenital diaphragmatic hernia, Postnatal growth retardation, Kyphosi... |
ORPHA:94065 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Epicanthus, Sparse eyelashes, Highly arched eyebrow, Sparse eyebrow, Synophrys, Flexion contractu... |
OMIM:619293 |
Fetal Trimethadione Syndrome |
|
Epicanthus, Synophrys, Scoliosis, Intrauterine growth retardation, Ptosis |
ORPHA:1913 |
Spinocerebellar Ataxia Type 36 |
|
Skeletal muscle atrophy, Ataxia, Dysmetria, Limb ataxia, Difficulty walking, Truncal ataxia, Ptosis |
ORPHA:276198 |
Hypomelanosis Of Ito |
|
Kyphosis, Epicanthus, Scoliosis |
OMIM:300337 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Ptosis, Intrauterine growth retardation, Platyspondyly, Short neck |
OMIM:618958 |
Chromosome 5Q12 Deletion Syndrome |
|
Sacral dimple, Epicanthus, Short neck, Postnatal growth retardation, Macroglossia, Long palpebral... |
OMIM:615668 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Epicanthus, Short stature, Kyphosis, Bilateral camptodactyly, Synophrys, Bilateral ptosis, Growth... |
OMIM:619557 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Short stature, Thoracolumbar scoliosis, Ataxia, Hyperlordosis, Kyphosis, Synophrys, Inability to ... |
OMIM:618443 |
Frias Syndrome |
|
Downslanted palpebral fissures, Short stature, Ptosis |
OMIM:609640 |
Rett Syndrome |
|
Skeletal muscle atrophy, Short stature, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal a... |
OMIM:312750 |
Smith-Mccort Dysplasia 1 |
|
Waddling gait, Short stature, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoax... |
OMIM:607326 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Cervical platyspondyly, Ophthalmoplegia, Scoliosis, Ptosis |
OMIM:618731 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Epicanthus, Ptosis |
ORPHA:2958 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Poor head control, Kyphoscoliosis, Scissor gait, Loss of ambulation, Lower limb amyotrophy, Ptosis |
ORPHA:466722 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Epicanthus, Short stature, Facial palsy, Aplasia of the pectoralis major... |
ORPHA:1358 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Epicanthus, Telecanthus, Short stature, Kyphoscoliosis, Postnatal growth retardation, Camptodacty... |
OMIM:612513 |
Mucolipidosis Iii Gamma |
|
Short stature, Hyperlordosis, Short neck, Kyphosis, Scoliosis |
OMIM:252605 |
Noonan Syndrome 11 |
|
Downslanted palpebral fissures, Short stature, Ptosis |
OMIM:618499 |
Progressive Hemifacial Atrophy |
|
Ptosis |
ORPHA:1214 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Broad-based gait, Ataxia, Inability to walk, Upslanted palpebral fissure, Hypomimic face, Ptosis |
OMIM:617854 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Skeletal muscle atrophy, Scapular winging, Ataxia, Ophthalmoplegia, Myopathy, Gait disturbance, W... |
ORPHA:98673 |
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Ophthalmoplegia, Congenital finger flexion contractures, Ptosis |
ORPHA:1154 |
Fetal Alcohol Syndrome |
|
Epicanthus, Telecanthus, Short stature, Congenital diaphragmatic hernia, Vertebral segmentation d... |
ORPHA:1915 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Growth delay, Ophthalmoplegia, Ataxia, Ptosis |
OMIM:618226 |
Distal Duplication 6P |
|
Sacral dimple, Short stature, Short neck, Abnormal eyelash morphology, Blepharophimosis, Intraute... |
ORPHA:1745 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Epicanthus, Short stature, Ataxia, Short neck, Upslanted palpebral fissure, Arthrogryposis-like h... |
ORPHA:369891 |
Prieto Syndrome |
|
Epicanthus, Ptosis |
OMIM:309610 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Short stature, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis |
ORPHA:1883 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Unsteady gait, Scoliosis |
OMIM:617435 |
Tetrasomy 12P |
|
Telecanthus, Short stature, Short neck, Sparse eyebrow, Upslanted palpebral fissure, Ptosis |
ORPHA:884 |
Coffin-Siris Syndrome 5 |
|
Short stature, Long eyelashes, Intrauterine growth retardation, Thick eyebrow, Ptosis |
OMIM:616938 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, Gait disturbance, Scoliosis |
ORPHA:2181 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retardation, Short... |
ORPHA:168549 |
Frontoocular Syndrome |
|
Epicanthus, Upslanted palpebral fissure, Blepharophimosis, Short palpebral fissure, Ptosis |
OMIM:605321 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Kyphosis, Knee flexion contracture, Long palpebral f... |
OMIM:603387 |
Myotubular Myopathy With Abnormal Genital Development |
|
Neonatal death, Myopathy, Centrally nucleated skeletal muscle fibers |
OMIM:300219 |
Hartsfield Syndrome |
|
Intrauterine growth retardation, Telecanthus, Downslanted palpebral fissures, Ptosis |
ORPHA:2117 |
Aarskog-Scott Syndrome |
|
Epicanthus, Short stature, Camptodactyly of finger, Short neck, Downslanted palpebral fissures, A... |
ORPHA:915 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Ptosis, Epicanthus, Limb joint contracture, Flexion contracture, Facial diplegia, Neonatal death,... |
OMIM:618186 |
Basilar Impression, Primary |
|
Horner syndrome, Limb muscle weakness, Kyphoscoliosis, Short neck |
OMIM:109500 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Epicanthus, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Gait disturbance, Joint contr... |
OMIM:620098 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Respiratory insufficiency du... |
OMIM:618291 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Short stature, Gait ataxia, Eyelid coloboma, Spina bifida occulta, Downslanted palpebral fissures... |
OMIM:268850 |
Warburg Micro Syndrome 4 |
|
Decreased muscle mass, Short stature, Inability to walk, Flexion contracture, Severe postnatal gr... |
OMIM:615663 |
Lethal Congenital Contracture Syndrome 5 |
|
Congenital contracture, Flexion contracture, Centrally nucleated skeletal muscle fibers |
OMIM:615368 |
Myotonic Dystrophy 2 |
|
Neck flexor weakness, Proximal muscle weakness, Generalized amyotrophy, Weakness of facial muscul... |
OMIM:602668 |
Fountain Syndrome |
|
Epicanthus, Short stature, Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Scoliosis,... |
ORPHA:3219 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Epicanthus, Facial hypotonia, Growth delay, Upslanted palpebral fissure, Scoliosis, Downslanted p... |
OMIM:618659 |
Subaortic Stenosis-Short Stature Syndrome |
|
Epicanthus, Short stature, Short neck, Kyphosis, Scoliosis |
ORPHA:3191 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Ptosis, Severe short stature, Scoliosis, Hyperlordosis |
ORPHA:2511 |
Pontocerebellar Hypoplasia, Type 17 |
|
Epicanthus, Kyphosis, Upslanted palpebral fissure, Intrauterine growth retardation, Limb hypertonia |
OMIM:619909 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Epicanthus, Telecanthus, Short stature, Thick eyebrow, Highly arched eyebrow, Upslanted palpebral... |
OMIM:617360 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Ataxia, External ophthalmoplegia, Gait disturbance, Loss of ambulation, Muscle weakness, Ptosis |
OMIM:615838 |
Cluster Headache, Familial |
|
Ptosis |
OMIM:119915 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Short stature, Kyphosis, Gait ataxia, Macroglossia, Delayed puberty |
OMIM:300354 |
Congenital Ptosis |
|
Unilateral ptosis, Congenital Horner syndrome, Telecanthus, Congenital facial diplegia, Epicanthu... |
ORPHA:91411 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis |
OMIM:259440 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Short stature, Scoliosis |
ORPHA:816 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Gait ataxia, Arthrogryposis multiplex congenita, Ptosis |
OMIM:243180 |
Ruvalcaba Syndrome |
|
Ptosis, Kyphosis, Scoliosis, Delayed puberty, Abnormal vertebral epiphysis morphology, Downslante... |
ORPHA:3121 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Severe short stature, Short stature, Diastasis rect... |
OMIM:253220 |
Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome |
|
Unilateral narrow palpebral fissure, Downslanted palpebral fissures, Ptosis |
ORPHA:3038 |
Flynn-Aird Syndrome |
|
Kyphosis, Ataxia, Scoliosis, Skeletal muscle atrophy |
ORPHA:2047 |
2P15P16.1 Microdeletion Syndrome |
|
Epicanthus, Telecanthus, Facial palsy, Camptodactyly of finger, Sparse eyebrow, Kyphosis, Growth ... |
ORPHA:261349 |
Short Stature And Facioauriculothoracic Malformations |
|
Ptosis, Abnormal odontoid process morphology, Proportionate short stature, Short neck |
OMIM:609654 |
Ascher Syndrome |
|
Blepharophimosis, Ptosis, Upper eyelid edema, Abnormal eyelid morphology |
ORPHA:1253 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Epicanthus, Telecanthus, Sparse eyelashes, Short stature, Scoliosis, Ptosis |
OMIM:615280 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Short stature, Kyphosis, Choreoathetosis, Gait disturbance, Scoliosis |
ORPHA:702 |
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency |
|
Weakness of facial musculature, Facial palsy, Ptosis |
OMIM:616323 |
Dystonia 34, Myoclonic |
|
Torticollis, Impaired tandem gait, Ptosis |
OMIM:619724 |
X-Linked Intellectual Disability, Cabezas Type |
|
Epicanthus, Broad-based gait, Short stature, Camptodactyly of finger, Short neck, Kyphosis, Synop... |
ORPHA:85293 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Long palpebral fissure, Kyphosis, Scoliosis |
OMIM:619797 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1548 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finger, Congenital diaph... |
ORPHA:2311 |
Snakebite Envenomation |
|
Respiratory paralysis, Rhabdomyolysis, Muscle fiber necrosis |
ORPHA:449285 |
Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Kyphosis, Scoliosis, Beaking of vertebral bodies, Downslanted palpebral ... |
ORPHA:137834 |
Noonan Syndrome 8 |
|
Epicanthus, Short stature, Short neck, Left ventricular hypertrophy, Downslanted palpebral fissur... |
OMIM:615355 |
Trisomy 17P |
|
Skeletal muscle atrophy, Short stature, Short neck, Flexion contracture, Growth delay, Macrogloss... |
ORPHA:261290 |
Noonan Syndrome 9 |
|
Short stature, Short neck, Sparse eyebrow, Downslanted palpebral fissures, Ptosis |
OMIM:616559 |
Pontine Tegmental Cap Dysplasia |
|
Ataxia, Facial palsy, Hemivertebrae, Dysmetria, Scoliosis, Ptosis |
OMIM:614688 |
Machado-Joseph Disease |
|
Ataxia, External ophthalmoplegia, Limb ataxia, Progressive cerebellar ataxia, Distal amyotrophy, ... |
OMIM:109150 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Unilateral ptosis, Sacral dimple, Hemivertebrae, Short stature |
OMIM:619318 |
Rere-Related Neurodevelopmental Syndrome |
|
Epicanthus, Postnatal growth retardation, Scoliosis, Blepharophimosis, Intrauterine growth retard... |
ORPHA:494344 |
Toxin-Mediated Infectious Botulism |
|
Respiratory insufficiency due to muscle weakness, Diaphragmatic paralysis, Muscle weakness, Ptosis |
ORPHA:230800 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Spina bifida occulta, Downslanted palpebral fissures, Scoliosis, Ptosis |
OMIM:618736 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Ataxia, Respiratory insufficiency due to muscle weakness, Generalized muscle weakness, Skeletal m... |
ORPHA:436271 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Epicanthus, Telecanthus, Short stature, Kyphosis, Upslanted palpebral fissure, Contracture of the... |
OMIM:618050 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Disproportionate short stature, Ptosis |
ORPHA:2868 |
Joubert Syndrome 35 |
|
Telecanthus, Ataxia, Highly arched eyebrow, Synophrys, Ptosis |
OMIM:618161 |
Juberg-Hayward Syndrome |
|
Short stature, Highly arched eyebrow, Ptosis |
OMIM:216100 |
Deafness, X-Linked 7 |
|
Telecanthus, Thick eyebrow, Ptosis |
OMIM:301018 |
Mucopolysaccharidosis, Type Iva |
|
Waddling gait, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proc... |
OMIM:253000 |
Codas Syndrome |
|
Epicanthus, Short stature, Abnormal form of the vertebral bodies, Coronal cleft vertebrae, Scolio... |
ORPHA:1458 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Disproportionate short-limb short ... |
ORPHA:2655 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Skeletal muscle atrophy, Downslanted palpebral fissures, Ptosis |
OMIM:616828 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short stature, Postnatal growth retardation, Congenital bilateral ptosis, Severe postnatal growth... |
ORPHA:73272 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Epicanthus, Kyphosis, Synophrys, Upslanted palpebral fissure, Scoliosis, Downsl... |
OMIM:617061 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Ptosis, Sacral dimple, Telecanthus, Diastasis recti, Highly arched e... |
OMIM:257920 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Downslanted palpebral fissures, Ptosis |
OMIM:615032 |
Chromosome 17P13.1 Deletion Syndrome |
|
Sacral dimple, Epicanthus, Telecanthus, Poor head control, Highly arched eyebrow, Short neck, Syn... |
OMIM:613776 |
Baraitser-Winter Syndrome 1 |
|
Epicanthus, Short stature, Highly arched eyebrow, Short neck, Postnatal growth retardation, Long ... |
OMIM:243310 |
Frontofacionasal Dysplasia |
|
Telecanthus, Short stature, Blepharophimosis, Upper eyelid coloboma, Limbal dermoid, Absent inner... |
ORPHA:1791 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Choreoathetosis, Poor head control, Ptosis |
OMIM:618451 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Intrauterine... |
ORPHA:628 |
Neuromuscular Oculoauditory Syndrome |
|
Poor head control, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, EMG:... |
OMIM:618733 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Increased ... |
OMIM:613150 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Gait ataxia, Ataxia, Ptosis |
ORPHA:101150 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Poor head control, Ataxia, Choreoathetosis, Falls, Ptosis |
ORPHA:13 |
Brachyolmia Type 3 |
|
Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondyly, Scoliosis |
OMIM:113500 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Ataxia, Muscle weakness, Ptosis |
OMIM:619046 |
Noonan Syndrome 6 |
|
Epicanthus, Short stature, Long eyebrows, Short neck, Bilateral ptosis, Growth delay, Downslanted... |
OMIM:613224 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal... |
ORPHA:94068 |
Isolated Atp Synthase Deficiency |
|
Ataxia, Short stature, Ophthalmoplegia, Muscle weakness, Ptosis |
ORPHA:254913 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Blepharophimosis, Telecanthus, Ptosis |
ORPHA:397973 |
Polymyositis |
|
Proximal muscle weakness, Abnormal muscle fiber morphology |
ORPHA:732 |
Postencephalitic Parkinsonism |
|
Camptocormia, Akinesia, Kyphosis, Bilateral ptosis, Generalized muscle weakness |
ORPHA:97349 |
Coffin-Siris Syndrome 2 |
|
Short stature, Macroglossia, Long eyelashes, Intrauterine growth retardation, Thick eyebrow, Ptosis |
OMIM:614607 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Kyphosis, Gait ataxia, Gait disturbance, Scoliosis, Camptodactyly, Flexion contracture of... |
ORPHA:88628 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Decreased muscle mass, Broad-based gait, Short stature, Kyphoscoliosis, Short neck, Sparse eyebro... |
OMIM:309583 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Ptosis, Short stature, Hyperlordosis, Hypoplasia of the odontoid process, Flexion contracture, Sp... |
OMIM:616007 |
Lethal Congenital Contracture Syndrome 10 |
|
Macroglossia, Increased variability in muscle fiber diameter, Torticollis, Intrauterine growth re... |
OMIM:617022 |
Refsum Disease, Classic |
|
Limb muscle weakness, Ataxia, Ptosis |
OMIM:266500 |
Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence |
|
Ptosis |
OMIM:609612 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Absent eyelashes, Thick eyebrow, Ptosis |
ORPHA:228396 |
Overlap Myositis |
|
Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Distal lower limb m... |
ORPHA:206572 |
Frontonasal Dysplasia 1 |
|
Epicanthus, Pectoral muscle hypoplasia/aplasia, Camptodactyly, Joint contracture of the hand, Ptosis |
OMIM:136760 |
Joubert Syndrome 7 |
|
Ataxia, Scoliosis, Ptosis |
OMIM:611560 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Short stature, Short neck, Kyphosis, Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyebrow |
ORPHA:3082 |
Crisponi Syndrome |
|
Kyphosis, Flexion contracture, Camptodactyly of finger, Scoliosis |
ORPHA:1545 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Epicanthus, Broad-based gait, Bilateral ptosis, Synophrys, Upslanted palpebral fissure |
OMIM:616351 |
3Mc Syndrome 3 |
|
Sacral dimple, Short stature, Diastasis recti, Highly arched eyebrow, Growth delay, Blepharophimo... |
OMIM:248340 |
Kury-Isidor Syndrome |
|
Sacral dimple, Short neck, Growth delay, Scoliosis, Downslanted palpebral fissures, Ptosis |
OMIM:619762 |
Rhizomelic Syndrome, Urbach Type |
|
Rhizomelia, Short stature, Short neck, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3098 |
Monosomy 18P |
|
Epicanthus, Short stature, Kyphoscoliosis, Short neck, Ptosis |
ORPHA:1598 |
Trisomy 20P |
|
Epicanthus, Camptodactyly of finger, Highly arched eyebrow, Short neck, Kyphosis, Abnormal form o... |
ORPHA:261318 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Choreoathetosis, Episodic ataxia, Ptosis |
OMIM:312170 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Severe short stature, Kyphosis, Moderate postnatal growth retardation, Upslanted palpebral fissur... |
ORPHA:1005 |
Hadziselimovic Syndrome |
|
Epicanthus, Short stature, Ptosis |
OMIM:612946 |
Insulin-Like Growth Factor I Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation, Short stature, Ptosis |
OMIM:608747 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Short stature, Hyperlordosis |
ORPHA:3085 |
Arthrogryposis, Distal, Type 4 |
|
Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis,... |
OMIM:609128 |
Desbuquois Dysplasia 1 |
|
Waddling gait, Severe short stature, Hyperlordosis, Short neck, Kyphosis, Growth delay, Platyspon... |
OMIM:251450 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Choreoathetosis, Ataxia, Ptosis |
OMIM:245348 |
Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto... |
OMIM:183900 |
3M Syndrome |
|
Scapular winging, Short stature, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis,... |
ORPHA:2616 |
Clark-Baraitser syndrome |
|
Kyphosis, Downslanted palpebral fissures, Scoliosis |
OMIM:300602 |
Oculogastrointestinal Muscular Dystrophy |
|
External ophthalmoplegia, Skeletal muscle atrophy, Myopathy, Ptosis |
ORPHA:1876 |
Pelger-Huet Anomaly |
|
Kyphosis, Lower limb hypertonia, Mild short stature, Foot dorsiflexor weakness |
OMIM:169400 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Short stature, Kyphosis, Synophrys, Flexion contracture, Abnormal form of the ve... |
ORPHA:3042 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Fatigable weakness of skeletal muscles, Ophthalmoplegia, Knee flexion contracture, Difficulty wal... |
OMIM:617239 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Decreased muscle mass, Telecanthus, Short stature, Short neck, Kyphosis, Scolio... |
OMIM:130720 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Short stature, Sparse eyelashes, Blepharophimosis, Postnatal growth retardation, Sparse eyebrow, ... |
OMIM:613026 |
Dyggve-Melchior-Clausen Disease |
|
Waddling gait, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Hypoplasia of the ... |
OMIM:223800 |
Noonan Syndrome 5 |
|
Epicanthus, Short stature, Short neck, Sparse eyebrow, Downslanted palpebral fissures, Ptosis |
OMIM:611553 |
Borjeson-Forssman-Lehmann Syndrome |
|
Skeletal muscle atrophy, Short stature, Blepharophimosis, Camptodactyly of toe, Thick eyebrow, Pt... |
ORPHA:127 |
Craniosynostosis 3 |
|
Ptosis |
OMIM:615314 |
Keipert Syndrome |
|
Epicanthus, Short stature, Ptosis |
ORPHA:2662 |
Pseudoachondroplasia |
|
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,... |
OMIM:177170 |
Spinocerebellar Ataxia 50 |
|
Ataxia, Ptosis |
OMIM:620158 |
Wound Botulism |
|
Respiratory insufficiency due to muscle weakness, Diaphragmatic paralysis, Muscle weakness, Ptosis |
ORPHA:178475 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Highly arched eyebrow, Kyphosis, Bilateral ptosis, Upslanted palpebral fissure, Scoliosis, Blepha... |
ORPHA:404440 |
Noonan Syndrome 4 |
|
Epicanthus, Short stature, Short neck, Sparse eyebrow, Bilateral ptosis, Scoliosis, Downslanted p... |
OMIM:610733 |
Coach Syndrome 3 |
|
Ataxia, Ptosis |
OMIM:619113 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Blepharophimosis, Flexion contracture, Downslanted palpebral fissures, Ptosis |
ORPHA:391372 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Ptosis, Torticollis, Telecanthus, Short neck, Inability to walk by childhood/adolescence, Upslant... |
OMIM:620224 |
Acrofrontofacionasal Dysostosis |
|
Short stature, Camptodactyly of finger, Eyelid coloboma, Downslanted palpebral fissures, Aplasia/... |
ORPHA:1784 |
Waardenburg Syndrome Type 1 |
|
Telecanthus, White eyelashes, White eyebrow, Synophrys, Scoliosis, Thick eyebrow, Ptosis |
ORPHA:894 |
Meckel Syndrome, Type 10 |
|
Epicanthus, Sacral dimple, Narrow palpebral fissure, Camptodactyly, Ptosis |
OMIM:614175 |
Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Intrauterine growth retardation, Downslante... |
ORPHA:2075 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Short neck, Wrist flexion contracture, Abnormally ossified vertebrae, Sh... |
ORPHA:800 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Unsteady gait, Gait ataxia, Contracture of the proximal interphalangeal joint of the 4th finger, ... |
OMIM:618109 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Epicanthus, Short stature, Kyphosis, Abnormal form of the vertebral bodi... |
ORPHA:192 |
Stickler Syndrome, Type Vi |
|
Downslanted palpebral fissures, Ptosis |
OMIM:620022 |
Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Rhabdomyolysis, Ophthalmoparesis, Episodic flaccid weakness, Re... |
ORPHA:79102 |
Mucopolysaccharidosis Type 4 |
|
Short stature, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Gait di... |
ORPHA:582 |
Alpha-Mannosidosis |
|
Macroglossia, Kyphosis, Scoliosis, Short neck |
ORPHA:61 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Skeletal muscle atrophy, Epicanthus, Progressive external ophthalmoplegia, Short stature, Proxima... |
OMIM:619743 |
Leigh Syndrome |
|
Ophthalmoplegia, Ataxia, Ptosis |
OMIM:256000 |
Becker Nevus Syndrome |
|
Shoulder girdle muscle atrophy, Kyphosis, Spina bifida occulta, Scoliosis |
ORPHA:64755 |
Gm1 Gangliosidosis |
|
Short stature, Camptodactyly of finger, Ataxia, Hyperlordosis, Kyphosis, Aplasia/Hypoplasia of th... |
ORPHA:354 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Macroglossia, Muscular ... |
ORPHA:258 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Ataxia, Short neck, Postnatal growth retardation, Kyphosis, Synophrys, Prominent p... |
OMIM:300966 |
Cole-Carpenter Syndrome 2 |
|
Short stature, Postnatal growth retardation, Kyphosis, Platyspondyly, Downslanted palpebral fissures |
OMIM:616294 |
Idiopathic Camptocormia |
|
Myositis, Fatigable weakness of skeletal muscles, Fatty replacement of skeletal muscle, Abnormal ... |
ORPHA:1320 |
22Q11.2 Duplication Syndrome |
|
Epicanthus, Growth delay, Scoliosis, Downslanted palpebral fissures, Ptosis |
ORPHA:1727 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Flexion contracture, Rhabdomyolysis, Unsteady ... |
ORPHA:17 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Telecanthus, Facial hypotonia, Sparse eyebrow, Epiblepharon, Distal arthrogryposis... |
OMIM:617557 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Ptosis |
OMIM:610539 |
Lambert-Eaton Myasthenic Syndrome |
|
Progressive proximal muscle weakness, Keratoconjunctivitis sicca, Abnormality of the orbital region |
ORPHA:43393 |
Purpura Simplex |
|
Ptosis |
OMIM:179000 |
Schuurs-Hoeijmakers Syndrome |
|
Highly arched eyebrow, Synophrys, Long eyelashes, Downslanted palpebral fissures, Ptosis |
OMIM:615009 |
Cole-Carpenter Syndrome |
|
Short stature, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Intrauterine growth re... |
ORPHA:2050 |
Sifrim-Hitz-Weiss Syndrome |
|
Epicanthus, Short stature, Upslanted palpebral fissure, Fused cervical vertebrae, Gait imbalance,... |
OMIM:617159 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Ptosis, Ataxia, Facial palsy, External ophthalmoplegia, Quadriceps muscle weakness, Ophthalmopleg... |
ORPHA:254892 |
Joubert Syndrome 3 |
|
Epicanthus, Ataxia, Highly arched eyebrow, Ptosis |
OMIM:608629 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Short stature, Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Abnormal curvature of the ver... |
ORPHA:93360 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Ptosis |
ORPHA:93262 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Upslanted palpebral fissure, Synophrys, Ptosis |
OMIM:616083 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Short stature, Kyphosis, Inability to walk, Unsteady gait, Elbow flexion contrac... |
OMIM:618493 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Epicanthus, Facial hypotonia, Ataxia, Inability to walk, Upslanted palpebral fissure, Ptosis |
OMIM:300260 |
Miller Fisher Syndrome |
|
Bulbar palsy, Ataxia, Facial palsy, External ophthalmoplegia, Internal ophthalmoplegia, Ptosis |
ORPHA:98919 |
Developmental And Epileptic Encephalopathy 110 |
|
Poor head control, Ptosis |
OMIM:620149 |
19P13.12 Microdeletion Syndrome |
|
Epicanthus, Short neck, Kyphosis, Synophrys, Scoliosis, Intrauterine growth retardation, Arthrogr... |
ORPHA:254346 |
Rhyns Syndrome |
|
Ptosis |
ORPHA:140976 |
Joubert Syndrome |
|
Ataxia, Highly arched eyebrow, Abnormal form of the vertebral bodies, Gait disturbance, Scoliosis... |
ORPHA:475 |
Weismann-Netter Syndrome |
|
Kyphosis, Severe short stature, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Perlman Syndrome |
|
Epicanthus, Ptosis |
ORPHA:2849 |
Megalocornea-Intellectual Disability Syndrome |
|
Epicanthus, Short stature, Ataxia, Kyphosis, Scoliosis, Downslanted palpebral fissures |
ORPHA:2479 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Type 2 muscle fiber predominance, Congenital contracture, Type 1 muscle fiber atrophy, Type 2 mus... |
OMIM:619036 |
Emanuel Syndrome |
|
Sacral dimple, Multiple joint contractures, Hooded eyelid, Kyphoscoliosis, Congenital diaphragmat... |
ORPHA:96170 |
Acro-Renal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Intrauterine gro... |
ORPHA:958 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Facial palsy, External ophthalmoplegia, Inability to walk, Gait ataxia, Ptosis |
OMIM:607483 |
Scarf Syndrome |
|
Epicanthus, Diastasis recti, Short neck, Abnormal form of the vertebral bodies, Downslanted palpe... |
ORPHA:3134 |
Noonan Syndrome 13 |
|
Epicanthus, Highly arched eyebrow, Short neck, Almond-shaped palpebral fissure, Scoliosis, Downsl... |
OMIM:619087 |
Trisomy 9P |
|
Sacral dimple, Short neck, Kyphosis, Scoliosis, Downslanted palpebral fissures |
ORPHA:236 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Ophthalmoplegia, Ragged-red muscle fibers, Poor head control |
OMIM:614924 |
Pde4D Haploinsufficiency Syndrome |
|
Postnatal growth retardation, Irregular vertebral endplates, Narrow palpebral fissure, Long palpe... |
ORPHA:439822 |
Waardenburg Syndrome Type 2 |
|
Telecanthus, Ptosis |
ORPHA:895 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy, Short stature, Kyphosis, Scoliosis, Ptosis |
ORPHA:1969 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Epicanthus, Short stature, Kyphosis, Upslanted palpebral fissure, Vertebral seg... |
ORPHA:96169 |
Aarskog-Scott Syndrome |
|
Short stature, Short neck, Hypoplasia of the odontoid process, Cervical spine hypermobility, Scol... |
OMIM:305400 |
Arthrogryposis Multiplex Congenita 5 |
|
Kyphoscoliosis, Short neck, Akinesia, Flexion contracture, Elbow flexion contracture, Growth dela... |
OMIM:618947 |
Lateral Meningocele Syndrome |
|
Epicanthus, Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis... |
ORPHA:2789 |
Ohdo Syndrome |
|
Epicanthus, Short stature, Sparse eyebrow, Blepharophimosis, Ptosis |
OMIM:249620 |
Developmental And Epileptic Encephalopathy 18 |
|
Downslanted palpebral fissures, Highly arched eyebrow, Ptosis |
OMIM:615476 |
Noonan Syndrome 14 |
|
Scapular winging, Epicanthus, Short stature, Lacrimal duct stenosis, Short neck, Sparse eyebrow, ... |
OMIM:619745 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Epicanthus, Short stature, Thoracolumbar scoliosis, Short neck, Platyspondyly, Scoliosis, Ptosis |
OMIM:616723 |
Emanuel Syndrome |
|
Sacral dimple, Torticollis, Congenital diaphragmatic hernia, Kyphosis, Upslanted palpebral fissur... |
OMIM:609029 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Ptosis |
ORPHA:2229 |
Acrofrontofacionasal Dysostosis 2 |
|
Downslanted palpebral fissures, Sacral dimple, Short stature, Ptosis |
OMIM:239710 |
Joubert Syndrome 37 |
|
Lumbar hyperlordosis, Short stature, Ptosis |
OMIM:619185 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Blepharophimosis, Epicanthus, Ptosis |
ORPHA:3236 |
Craniosynostosis 6 |
|
Spina bifida occulta, Scoliosis, Ptosis |
OMIM:616602 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Telecanthus, Abdominal wall muscle weakness, Poor head control, Diastasis recti, Scoliosis, Hoode... |
OMIM:618548 |
Tukel Syndrome |
|
Congenital fibrosis of extraocular muscles, Nonprogressive restrictive external ophthalmoplegia, ... |
OMIM:609428 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Epicanthus, Sclerotic vertebral body, Ataxia, Kyphosis, Platyspondyly, Long eyelashes, Difficulty... |
OMIM:618476 |
Visceral Neuropathy, Familial, 2, Autosomal Recessive |
|
Ptosis |
OMIM:619465 |
Pfeiffer Syndrome |
|
Ptosis, Hyperlordosis, Short stature, Short neck |
ORPHA:710 |
Hurler-Scheie Syndrome |
|
Short stature, Camptodactyly of finger, Thenar muscle atrophy, Kyphosis, Contracture of the dista... |
OMIM:607015 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Epicanthus, Spina bifida occulta, Short stature, Ptosis |
ORPHA:1185 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Ptosis, Short stature, Epicanthus, Kyphosis, Hypotrophy of the s... |
OMIM:610443 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Congenital muscular torticollis, Skeletal muscle atrophy, Severe short stature, Camptodactyly of ... |
ORPHA:2215 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Lacrimal duct stenosis, Sparse eyebrow, Intrauterine growth retardation, Downslanted palpebral fi... |
ORPHA:73246 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Ataxia, Respiratory insufficiency due to muscle weakness, Ophthalmoparesis, Increased intramyocel... |
OMIM:220110 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Severe short stature, Ptosis |
OMIM:210700 |
Teebi Hypertelorism Syndrome 2 |
|
Upper eyelid coloboma, Thick eyebrow, Ptosis |
OMIM:619736 |
Arachnoid Cyst |
|
Back pain, Distal muscle weakness, Facial palsy, Inability to walk, Gait disturbance, Oculomotor ... |
ORPHA:2356 |
Infantile Sialic Acid Storage Disease |
|
Epicanthus, Ptosis |
OMIM:269920 |
Alexander Disease |
|
Ataxia, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Gait disturbance, Scoliosis, Muscle we... |
ORPHA:58 |
Dermoodontodysplasia |
|
Ptosis, Abnormal eyelid morphology |
ORPHA:1660 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Synophrys, Spina bifida occulta, Short neck |
ORPHA:2983 |
Takenouchi-Kosaki Syndrome |
|
Ataxia, Highly arched eyebrow, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Scoliosis,... |
OMIM:616737 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Short stature, Congenital diaphragmatic hernia, Kyphosis, Upslante... |
OMIM:617602 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Progressive external ophthalmoplegia, Myopathy, Left ventricular hypertrophy, Intrauterine growth... |
OMIM:617713 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Vertebral fusion, Sacral dimple, Epicanthus, Short stature, Highly arched eyebrow, Short neck, Po... |
OMIM:213980 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Ptosis |
OMIM:619972 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Scoliosis |
OMIM:300676 |
Joubert Syndrome With Ocular Defect |
|
Ataxia, Highly arched eyebrow, Gait disturbance, Scoliosis, Abnormal vertebral morphology, Ptosis |
ORPHA:220493 |
Nail-Patella Syndrome |
|
Back pain, Biceps aplasia, Lumbar hyperlordosis, Short stature, Absence of pectoralis minor muscl... |
OMIM:161200 |
Iatrogenic Botulism |
|
Diaphragmatic paralysis, Muscle weakness, Ptosis |
ORPHA:254509 |
Joubert Syndrome With Renal Defect |
|
Ataxia, Highly arched eyebrow, Gait disturbance, Scoliosis, Ptosis |
ORPHA:220497 |
Orofaciodigital Syndrome Xvi |
|
Inability to walk, Ataxia, Short palpebral fissure, Ptosis |
OMIM:617563 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Generalized muscle weakness, Elbow flexion contracture, EMG: myopathic abn... |
ORPHA:1900 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Kyphosis, Ophthalmoplegia, Dysmetria, Lower limb hypertonia, Dysdiadochokinesis, Neck muscle weak... |
ORPHA:171629 |
3C Syndrome |
|
Short stature, Short neck, Postnatal growth retardation, Kyphosis, Hemivertebrae, Scoliosis, Down... |
ORPHA:7 |
Weiss-Kruszka Syndrome |
|
Epicanthus, Highly arched eyebrow, Left ventricular hypertrophy, Downslanted palpebral fissures, ... |
OMIM:618619 |
Isolated Complex I Deficiency |
|
Poor head control, Ataxia, Intrauterine growth retardation, Abnormal mitochondria in muscle tissu... |
ORPHA:2609 |
Mucopolysaccharidosis, Type Ii |
|
Severe short stature, Short stature, Short neck, Kyphosis, Flexion contracture, Macroglossia, Mil... |
OMIM:309900 |
Chromosome 18P Deletion Syndrome |
|
Epicanthus, Short stature, Short neck, Hypomimic face, Ptosis |
OMIM:146390 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Epicanthus, Telecanthus, Palpebral edema, Highly arched eyebrow, Short neck, Growth delay, Eurybl... |
ORPHA:2995 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Skeletal muscle atrophy, Proximal muscle weakness, Growth delay, Scoliosis, Muscle weakness, Ptosis |
OMIM:615895 |
Crouzon Syndrome |
|
Abnormal sacrum morphology, Conjunctivitis, Ptosis |
ORPHA:207 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Short stature, Thoracolumbar scoliosis, Kyphoscoliosis, Left ventricular hypertrophy, Tendon rupt... |
ORPHA:230851 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Epicanthus, Kyphosis, Synophrys, Congenital ptosis, Gait ataxia, Scoliosis, Slanting of the palpe... |
ORPHA:476126 |
Mesomelia-Synostoses Syndrome |
|
Abnormal eyebrow morphology, Telecanthus, Short stature, Downslanted palpebral fissures, Ptosis |
ORPHA:2496 |
X-Linked Creatine Transporter Deficiency |
|
Athetosis, Short stature, Ataxia, Ptosis |
ORPHA:52503 |
Mucopolysaccharidosis, Type Ivb |
|
Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Disp... |
OMIM:253010 |
Developmental And Epileptic Encephalopathy 84 |
|
Epicanthus, Synophrys, Blepharophimosis, Short palpebral fissure, Ptosis |
OMIM:618792 |
Foodborne Botulism |
|
Respiratory insufficiency due to muscle weakness, Diaphragmatic paralysis, Muscle weakness, Ptosis |
ORPHA:228371 |
Auriculocondylar Syndrome 2A |
|
Ptosis |
OMIM:614669 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Ptosis |
ORPHA:1067 |
Kosaki Overgrowth Syndrome |
|
Thoracolumbar scoliosis, Xanthelasma, Scoliosis, Downslanted palpebral fissures, Ptosis |
OMIM:616592 |
Loeys-Dietz Syndrome 5 |
|
Ptosis, Decreased muscle mass, Scapular winging, Short stature, Kyphoscoliosis, Cervical spine in... |
OMIM:615582 |
Cardiofaciocutaneous Syndrome 2 |
|
Absent eyebrow, Ptosis |
OMIM:615278 |
Neonatal Adrenoleukodystrophy |
|
Short stature, Ptosis |
ORPHA:44 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
Achondroplasia |
|
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Disproportionate short stature, Spinal canal stenosis... |
ORPHA:15 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Ptosis, Sparse lateral eyebrow, Short neck |
OMIM:619955 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
External ophthalmoplegia, Ophthalmoplegia, Ptosis |
OMIM:277320 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ataxia, Ophthalmoparesis, Ptosis |
OMIM:560000 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology, Ataxia |
ORPHA:324737 |
2Q31.1 Microdeletion Syndrome |
|
Epicanthus, Short stature, Camptodactyly of finger, Short neck, Kyphosis, Synophrys, Vertebral se... |
ORPHA:251014 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Ptosis |
OMIM:221320 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Ptosis |
ORPHA:1473 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Disproportionate short-limb short stature, Scoliosis, Biconcave vertebral bodies, Neona... |
OMIM:259420 |
Joubert Syndrome 14 |
|
Epicanthus, Ataxia, Highly arched eyebrow, Growth delay, Downslanted palpebral fissures, Ptosis |
OMIM:614424 |
X-Linked Mandibulofacial Dysostosis |
|
Epicanthus, Short stature, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Ptosis |
ORPHA:1131 |
Polyvalvular Heart Disease Syndrome |
|
Short stature, Ptosis |
ORPHA:228410 |
Ophthalmoplegia, Familial Static |
|
Ophthalmoplegia, Ptosis |
OMIM:165000 |
Kbg Syndrome |
|
Vertebral fusion, Telecanthus, Short stature, Short neck, Synophrys, Vertebral arch anomaly, Thor... |
OMIM:148050 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... |
ORPHA:508533 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Severe short stature, Camptodactyly of finger, Kyphosis, Abnormal form o... |
ORPHA:2461 |
Acrocraniofacial Dysostosis |
|
Telecanthus, Short stature, Abnormal form of the vertebral bodies, Spina bifida occulta, Downslan... |
ORPHA:949 |
Alg1-Cdg |
|
Kyphosis, Scoliosis |
ORPHA:79327 |
Wiedemann-Steiner Syndrome |
|
Sacral dimple, Epicanthus, Rhizomelia, Short stature, Telecanthus, Thick eyebrow, Postnatal growt... |
ORPHA:319182 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Thoracic scoliosis, Short neck, Bilateral ptosis, Facet joint arthrosis, Thin eyebrow, Cervical C... |
OMIM:618000 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Short stature, Highly arched eyebrow, Growth delay, Long eyelashes, Delayed puberty, Intrauterine... |
OMIM:615866 |
X-Linked Intellectual Disability, Snyder Type |
|
Unilateral ptosis, Decreased muscle mass, Short stature, Kyphoscoliosis, Sparse eyebrow, Kyphosis... |
ORPHA:3063 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Palpebral edema, Ptosis |
ORPHA:1259 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Downslanted palpebral fissures, Long eyelashes, Ptosis |
OMIM:617523 |
Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Platyspondyly, Short stature |
ORPHA:93274 |
Myasthenia Gravis |
|
Myositis, Bulbar palsy, Ophthalmoparesis, Muscle weakness, Ptosis |
ORPHA:589 |
Trisomy 13 |
|
Abnormal eyelash morphology, Kyphosis, Scoliosis, Intrauterine growth retardation |
ORPHA:3378 |
20Q11.2 Microduplication Syndrome |
|
Epicanthus, Sacral dimple, Palpebral edema, Growth delay, Severe intrauterine growth retardation,... |
ORPHA:363659 |
Isolated Congenital Alacrima |
|
Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, Achalasia, Distichiasis, Ptosis |
ORPHA:91416 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Sparse eyebrow, Kyphosis, Inability to walk, Scoliosis, Difficulty walking, Downslant... |
ORPHA:464738 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Short stature, Increased vertebral height, Camptod... |
OMIM:613385 |
Gm1-Gangliosidosis, Type I |
|
Severe short stature, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Intrauterine... |
OMIM:230500 |
Bachmann-Bupp Syndrome |
|
Absent eyebrow, Sparse eyelashes, Blepharophimosis, Downslanted palpebral fissures, Ptosis |
OMIM:619075 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Epicanthus, Short neck, Growth delay, Camptodactyly, Downslanted palpebral fissures, Short palpeb... |
OMIM:614230 |
Cohen Syndrome |
|
Short stature, Abnormal eyelid morphology, Abnormal eyelash morphology, Kyphosis, Long eyelashes,... |
ORPHA:193 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Epicanthus, Downslanted palpebral fissures, Telecanthus, Ptosis |
ORPHA:1778 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple |
OMIM:618272 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Progressive external ophthalmoplegia, Distal muscle weakness, Ragged-red muscle fibers, Ophthalmo... |
OMIM:603041 |
Fetal Hydantoin Syndrome |
|
Intrauterine growth retardation, Epicanthus, Short stature, Ptosis |
ORPHA:1912 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Limb ataxia, Truncal ataxia, Muscle weakness, Ptosis |
OMIM:105210 |
Rubinstein-Taybi Syndrome |
|
Epicanthus, Telecanthus, Short stature, Highly arched eyebrow, Nasolacrimal duct obstruction, Dow... |
ORPHA:783 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Sparse eyebrow, Short stature, Ptosis |
ORPHA:66629 |
Abetalipoproteinemia |
|
Broad-based gait, Ataxia, Kyphoscoliosis, Ophthalmoplegia, Dysmetria, Gait ataxia, Myopathy, Kera... |
ORPHA:14 |
Microcephaly-Capillary Malformation Syndrome |
|
Ptosis, Short stature, Right ventricular hypertrophy |
OMIM:614261 |
Dysostosis, Stanescu Type |
|
Short stature, Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosis |
ORPHA:1798 |
Noonan Syndrome 10 |
|
Epicanthus, Short stature, Short neck, Sparse eyebrow, Scoliosis, Left ventricular hypertrophy, D... |
OMIM:616564 |
Hurler Syndrome |
|
Short stature, Short neck, Hypoplasia of the odontoid process, Kyphosis, Flexion contracture, Bil... |
OMIM:607014 |
Microphthalmia, Lenz Type |
|
Short stature, Camptodactyly of finger, Hyperlordosis, Kyphosis, Ankyloblepharon, Scoliosis |
ORPHA:568 |
Van Maldergem Syndrome 1 |
|
Sacral dimple, Epicanthus, Growth delay, Scoliosis, Camptodactyly, Blepharophimosis, Short palpeb... |
OMIM:601390 |
Scarf Syndrome |
|
Epicanthus, Diastasis recti, Short neck, Abnormal form of the vertebral bodies, Downslanted palpe... |
OMIM:312830 |
Distal Triplication 15Q |
|
Telecanthus, Kyphosis, Flexion contracture, Scoliosis, Camptodactyly, Intrauterine growth retarda... |
ORPHA:314588 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Distal muscle weakness, Ataxia, Ophthalmopl... |
ORPHA:506 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Sparse eyebrow, Kyphosis, Gait ataxia, Up... |
ORPHA:457359 |
Thrombocytopenia, Paris-Trousseau Type |
|
Ptosis |
OMIM:188025 |
Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Disproportionate short-trunk short stature, Macrogl... |
ORPHA:583 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy |
OMIM:613154 |
Muenke Syndrome |
|
Downslanted palpebral fissures, Ptosis |
OMIM:602849 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Joint contracture, Scoliosis |
OMIM:615381 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Epicanthus, Kyphoscoliosis, Postnatal growth retardation, Kyphosis, Hemivertebrae, Growth delay, ... |
OMIM:301040 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Telecanthus, Short stature, Ptosis |
OMIM:247410 |
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature |
|
Broad-based gait, Short stature, Ptosis |
OMIM:609037 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Postnatal growth retardation, Intrauterine growth retardation, Blepharophimosis, Ptosis |
ORPHA:2728 |
Paroxysmal Hemicrania |
|
Conjunctival hyperemia, Palpebral edema, Ptosis |
ORPHA:157835 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Camptodactyly of finger, Highly arched eyebrow, Kyphosis, Scoliosis, Downslanted palpebral fissures |
OMIM:619951 |
Distal Deletion 3P |
|
Sacral dimple, Epicanthus, Short stature, Telecanthus, Short neck, Blepharophimosis, Intrauterine... |
ORPHA:1620 |
Joubert Syndrome With Oculorenal Defect |
|
Highly arched eyebrow, Ataxia, Scoliosis, Ptosis |
ORPHA:2318 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Kyphosis, Scoliosis, Downslanted palpebral fissures, Ptosis |
OMIM:616449 |
Cenani-Lenz Syndrome |
|
Ptosis, Abnormal form of the vertebral bodies, Scoliosis, Downslanted palpebral fissures, Ectropion |
ORPHA:3258 |
Intestinal Botulism |
|
Respiratory insufficiency due to muscle weakness, Ptosis |
ORPHA:178481 |
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Upslanted palpebral fissure, Epicanthus inversus, Highly arched eyebrow, Ptosis |
ORPHA:2988 |
Aase-Smith Syndrome I |
|
Flexion contracture, Ptosis |
OMIM:147800 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Short stature, Scoliosis |
ORPHA:261190 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Disproportionate short stature,... |
OMIM:616482 |
Phelan-Mcdermid Syndrome |
|
Epicanthus, Sacral dimple, Palpebral edema, Broad-based gait, Unsteady gait, Long eyelashes, Thic... |
OMIM:606232 |
Refsum Disease |
|
Skeletal muscle atrophy, Ataxia, Ptosis |
ORPHA:773 |
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Short stature, Ptosis |
OMIM:606220 |
Frontorhiny |
|
Epicanthus, Lumbar hyperlordosis, Camptodactyly of finger, Scoliosis, Ptosis |
ORPHA:391474 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Epicanthus, Short stature, Telecanthus, Short neck, Kyphosis, Upslanted palpebral ... |
OMIM:616894 |
Rhyns Syndrome |
|
Total ophthalmoplegia, Short stature, Ptosis |
OMIM:602152 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Short stature, Kyphosis, Flexion contracture, Gait disturbance, Scoliosis |
ORPHA:500055 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Laterally extended eyebrow, Short stature, Hooded eyelid, Highly arched eyebrow, Short neck, Syno... |
OMIM:610759 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Rhizomelia, Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyl... |
OMIM:618019 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Decreased muscle mass, Telecanthus, Elbow contracture, Camptodactyly of finger, ... |
OMIM:208150 |
Neurofibromatosis-Noonan Syndrome |
|
Epicanthus, Short stature, Short neck, Scoliosis, Lisch nodules, Downslanted palpebral fissures, ... |
OMIM:601321 |
Lymphedema-Distichiasis Syndrome |
|
Ptosis, Conjunctivitis, Distichiasis, Muscle weakness, Ectropion |
ORPHA:33001 |
Cdags Syndrome |
|
Ptosis, Sparse eyelashes, Sparse eyebrow, Kyphosis, Ectropion |
OMIM:603116 |
Nager Syndrome |
|
Sparse lower eyelashes, Lower eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia... |
ORPHA:245 |
Goldberg-Shprintzen Syndrome |
|
Telecanthus, Highly arched eyebrow, Short neck, Synophrys, Limb hypertonia, Downslanted palpebral... |
OMIM:609460 |
Oculofaciocardiodental Syndrome |
|
Highly arched eyebrow, Flexion contracture of the 2nd toe, Scoliosis, Flexion contracture of the ... |
ORPHA:2712 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Telecanthus, Abdominal wall muscle weakness, C1-C2 vertebral abnormality, Scoliosis, Shallow orbi... |
OMIM:182212 |
Stickler Syndrome, Type I |
|
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... |
OMIM:108300 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Short stature, Highly arched eyebrow, Synophrys, Lower limb hypertonia, Downslanted palpebral fis... |
OMIM:616728 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Postnatal growth retardation, Short stature, Ptosis |
OMIM:300845 |
Tyshchenko Syndrome |
|
Intrauterine growth retardation, Short stature, Ptosis |
OMIM:615102 |
Inhalational Botulism |
|
Muscle weakness, Ptosis |
ORPHA:254504 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Choreoathetosis, Limb hypertonia, Athetosis, Ptosis |
OMIM:608643 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Skeletal muscle atrophy, Poor head control, Ataxia, Ragged-red muscle fibers, Growth delay, Upsla... |
OMIM:252010 |
Joubert Syndrome 30 |
|
Ptosis |
OMIM:617622 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Entropion, Trichiasis, Sparse eyebrow, Kyphosis, Thin eyebrow |
OMIM:609944 |
Mucolipidosis Type Ii |
|
Hip contracture, Epicanthus, Short stature, Diastasis recti, Postnatal growth retardation, Kyphos... |
ORPHA:576 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Epicanthus, Short stature, Lacrimal duct stenosis, Growth delay, Ptosis |
ORPHA:457193 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Epicanthus, Hemivertebrae, Scoliosis, Downslanted palpebral fissures, Ptosis |
OMIM:104350 |
Wolfram Syndrome 1 |
|
Growth delay, Ataxia, Ptosis |
OMIM:222300 |
Duane Retraction Syndrome |
|
Skeletal muscle atrophy, Short neck, Oculomotor nerve palsy, Spina bifida occulta, Abnormal form ... |
ORPHA:233 |
Beck-Fahrner Syndrome |
|
Facial hypotonia, Lacrimal duct stenosis, Ptosis |
OMIM:618798 |
Noonan Syndrome With Multiple Lentigines |
|
Scapular winging, Short stature, Aplasia/Hypoplasia of the abdominal wall musculature, Growth del... |
ORPHA:500 |
8Q21.11 Microdeletion Syndrome |
|
Epicanthus, Camptodactyly of finger, Short neck, Blepharophimosis, Downslanted palpebral fissures... |
ORPHA:284160 |
Buratti-Harel Syndrome |
|
Epicanthus, Sparse medial eyebrow, Downslanted palpebral fissures, Ptosis |
OMIM:619314 |
Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Short neck |
OMIM:608776 |
Angelman Syndrome |
|
Broad-based gait, Ataxia, Inability to walk, Scoliosis, Delayed menarche, Ptosis |
ORPHA:72 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Macroglossia, Vertebral segmentation defect, Scoliosis, Shallow orbits, Long palpebral fissure, I... |
ORPHA:453499 |
Saethre-Chotzen Syndrome |
|
Epicanthus, Short stature, Hyperlordosis, Abnormal form of the vertebral bodies, Blepharospasm, S... |
ORPHA:794 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Lacrimal gland aplasia, Telecanthus, Ectropion, Duplicated lacrimal punctum, Highly arched eyebro... |
ORPHA:572333 |
Loeys-Dietz Syndrome 4 |
|
Torticollis, Scoliosis, Spondylolisthesis, Downslanted palpebral fissures, Ptosis |
OMIM:614816 |
Kabuki Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Highly arched eyebrow, Vertebral clefting, Hemive... |
ORPHA:2322 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Ataxia, Almond-shaped palpebral fissure, Kyphosis, Flexion contracture, Dysmetria, Muscle weakness |
OMIM:212065 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Long eyelashes, Arthrogryposis m... |
OMIM:617301 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Highly arched eyebrow, Postnatal growth retardation, Sparse eyebrow, Synophrys, Flexion contractu... |
ORPHA:487796 |
Cardiofaciocutaneous Syndrome |
|
Epicanthus, Short stature, Short neck, Abnormal eyelash morphology, Sparse or absent eyelashes, S... |
ORPHA:1340 |
Kallmann Syndrome |
|
Ataxia, Gait disturbance, Delayed puberty, Muscle weakness, Ptosis |
ORPHA:478 |
Sunct Syndrome |
|
Conjunctival hyperemia, Palpebral edema, Ptosis |
ORPHA:57145 |
Spondyloperipheral Dysplasia |
|
Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Irregular... |
OMIM:271700 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Broad-based gait, Short stature, Gait disturbance, Ptosis |
OMIM:300352 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Waddling gait, Lumbar hyperlordosis, Short stature, Rhizomelia, Kyphoscoliosis, Short neck, Campt... |
OMIM:143095 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Epicanthus, Ataxia, Congenital diaphragmatic hernia, Highly arched eyebrow, Kyphos... |
ORPHA:280 |
Van Maldergem Syndrome 2 |
|
Sacral dimple, Epicanthus, Growth delay, Narrow palpebral fissure, Scoliosis, Blepharophimosis, S... |
OMIM:615546 |
Moebius Syndrome |
|
Skeletal muscle atrophy, Epicanthus, Facial palsy, Ophthalmoplegia, Aplasia of the pectoralis maj... |
ORPHA:570 |
Camurati-Engelmann Disease |
|
Waddling gait, Skeletal muscle atrophy, Ataxia, Facial palsy, Hyperlordosis, Kyphosis, Abnormalit... |
ORPHA:1328 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Epicanthus, Short stature, Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal inter... |
OMIM:618223 |
Melas |
|
Progressive external ophthalmoplegia, Short stature, Ragged-red muscle fibers, Myopathy, Abnormal... |
ORPHA:550 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Scapular winging, Kyphosis, Keratoconjunctivitis sicca, Intrauterine growth retardation, Downslan... |
OMIM:616914 |
Jacobsen Syndrome |
|
Epicanthus, Telecanthus, Short neck, Abnormal eyelash morphology, Flexion contracture, Nasolacrim... |
OMIM:147791 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Epicanthus, Sacral dimple, External ophthalmoplegia, Narrow palpebral fissure, Downslanted palpeb... |
OMIM:613603 |
Harrod Syndrome |
|
Kyphosis, Scoliosis, Intrauterine growth retardation |
ORPHA:2115 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Epicanthus, Long eyelashes, Broad lateral eyebrow, Ptosis |
OMIM:608624 |
Joubert Syndrome 1 |
|
Epicanthus, Poor head control, Ataxia, Highly arched eyebrow, Macroglossia, Ptosis |
OMIM:213300 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Inability to walk, Type 1 muscle fiber atrophy, Growth delay, Macroglossia, Vertebral segmentatio... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Inability to walk, Type 1 muscle fiber atrophy, Growth delay, Macroglossia, Vertebral segmentatio... |
ORPHA:352665 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrop... |
ORPHA:2232 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Hyperlordosis, Sparse eyebrow, Kyphosis, Gait ataxia, Upslanted palpebral fissure, Scoliosis, Dow... |
OMIM:617011 |
Autosomal Dominant Robinow Syndrome |
|
Sacral dimple, Severe short stature, Short stature, Camptodactyly of finger, Curly eyelashes, Sho... |
ORPHA:3107 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali... |
ORPHA:565612 |
Six2-Related Frontonasal Dysplasia |
|
Intrauterine growth retardation, Epicanthus inversus, Short stature, Ptosis |
ORPHA:488437 |
Fucosidosis |
|
Kyphosis, Decreased muscle mass, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Epicanthus, Camptodactyly of finger, Short neck, Kyphosis, Upslanted palpebral fis... |
ORPHA:1507 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Neck flexor weakness, Foot dorsiflexor weakness, Abnormality of the tong... |
ORPHA:273 |
Oculocerebrocutaneous Syndrome |
|
Eyelid coloboma, Congenital diaphragmatic hernia, Ptosis |
ORPHA:1647 |
Jackson-Weiss Syndrome |
|
Ptosis |
ORPHA:1540 |
Cardiac Valvular Dysplasia, X-Linked |
|
Ptosis |
OMIM:314400 |
Branchio-Oculo-Facial Syndrome |
|
Short stature, Nasolacrimal duct obstruction, Upslanted palpebral fissure, Intrauterine growth re... |
ORPHA:1297 |
Dubowitz Syndrome |
|
Sacral dimple, Epicanthus, Short stature, Telecanthus, Postnatal growth retardation, Blepharophim... |
OMIM:223370 |
Helsmoortel-Van Der Aa Syndrome |
|
Epicanthus, Poor head control, Short stature, Facial palsy, Hyperlordosis, Bilateral ptosis, Ectr... |
OMIM:615873 |
Pycnodysostosis |
|
Rhizomelia, Hyperlordosis, Kyphosis, Spondylolysis, Scoliosis, Disproportionate short-limb short ... |
ORPHA:763 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Blepharophimosis, Short stature, Ptosis |
ORPHA:2031 |
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Bilateral ptosis, Flexion contracture of the 2nd finger, Long eyelashes, Joint contracture of the... |
ORPHA:324540 |
Kaufman Oculocerebrofacial Syndrome |
|
Epicanthus, Telecanthus, Short stature, Ovoid vertebral bodies, Sparse eyebrow, Upslanted palpebr... |
OMIM:244450 |
Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Short stature, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
Noonan Syndrome 2 |
|
Epicanthus, Short stature, Short neck, Sparse eyebrow, Arthrogryposis multiplex congenita, Downsl... |
OMIM:605275 |
Congenital Disorder Of Glycosylation, Type 2V |
|
Narrow palpebral fissure, Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:619493 |
Dubowitz Syndrome |
|
Sacral dimple, Epicanthus, Short stature, Telecanthus, Postnatal growth retardation, Scoliosis, B... |
ORPHA:235 |
Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis, Lethal short-limbed short stature |
ORPHA:1860 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Epicanthus, Short stature, Short neck, Absent eyelashes, Scoliosis, Palpebral thi... |
OMIM:115150 |
Okur-Chung Neurodevelopmental Syndrome |
|
Epicanthus, Ataxia, Highly arched eyebrow, Synophrys, Scoliosis, Epicanthus inversus, Ptosis |
OMIM:617062 |
Micro Syndrome |
|
Short stature, Kyphosis, Scoliosis, Delayed puberty, Intrauterine growth retardation |
ORPHA:2510 |
Multiple Endocrine Neoplasia, Type Iib |
|
Hyperlordosis, Kyphosis, Myopathy, Scoliosis, Thick eyebrow |
OMIM:162300 |
Prader-Willi Syndrome |
|
Decreased muscle mass, Short stature, Almond-shaped palpebral fissure, Kyphosis, Upslanted palpeb... |
OMIM:176270 |
Joubert Syndrome With Hepatic Defect |
|
Ataxia, Highly arched eyebrow, Gait disturbance, Scoliosis, Ptosis |
ORPHA:1454 |
Hunter-Macdonald Syndrome |
|
Short stature, Upslanted palpebral fissure, Scoliosis, Camptodactyly, Blepharophimosis, Joint con... |
OMIM:611962 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Spinal canal stenosis, Upslanted palpebral fissure, Fused cervical ve... |
ORPHA:1724 |
Atelis Syndrome 2 |
|
Epicanthus, Sacral dimple, Kyphosis, Dysmetria, Dacryocystocele, Short palpebral fissure |
OMIM:620185 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Ptosis, Finger joint contracture |
OMIM:212112 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis, Broad eyebrow, Highly arched eyebrow |
OMIM:619244 |
Coach Syndrome 1 |
|
Growth delay, Ataxia, Ptosis |
OMIM:216360 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Epicanthus, Short stature, Lacrimal duct stenosis, Highly arched eyebrow, Short neck, Upslanted p... |
OMIM:617506 |
Holoprosencephaly |
|
Epicanthus, Congenital diaphragmatic hernia, Short neck, Highly arched eyebrow, Synophrys, Abnorm... |
ORPHA:2162 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Scoliosis |
OMIM:609008 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Telecanthus, Short neck, Blepharophimosis, Short palpebral fissure, Ptosis |
OMIM:217980 |
Weaver Syndrome |
|
Epicanthus, Diastasis recti, Kyphosis, Scoliosis, Camptodactyly, Joint contracture of the hand, D... |
OMIM:277590 |
Congenital Myopathy 17 |
|
Telecanthus, Myopathy, Distal arthrogryposis, Diaphragmatic eventration, Downslanted palpebral fi... |
OMIM:618975 |
Lymphedema-Distichiasis Syndrome |
|
Ptosis, Kyphosis, Conjunctivitis, Distichiasis, Ectropion |
OMIM:153400 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies, Skeletal muscle atrophy |
OMIM:219090 |
Shprintzen-Goldberg Syndrome |
|
Telecanthus, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Abnor... |
ORPHA:2462 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Congenital kyphoscoliosis, Short stature, Multiple joint contractures, Kyphoscoliosis, Flexion co... |
ORPHA:536471 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Waddling gait, Spinal canal stenosis, Upslanted palpebral fissure, ... |
OMIM:186500 |
Teebi-Shaltout Syndrome |
|
Telecanthus, Short stature, Highly arched eyebrow, Camptodactyly, Caudal appendage, Ptosis |
OMIM:272950 |
Trichohepatoneurodevelopmental Syndrome |
|
Epicanthus, Ectropion, Almond-shaped palpebral fissure, Synophrys, Macroglossia, Distal arthrogry... |
OMIM:618268 |
Bickerstaff Brainstem Encephalitis |
|
Bulbar palsy, Ataxia, Facial palsy, Ophthalmoplegia, Weakness of facial musculature, Limb muscle ... |
ORPHA:79138 |
Myhre Syndrome |
|
Severe short stature, Skeletal muscle hypertrophy, Platyspondyly, Blepharophimosis, Intrauterine ... |
ORPHA:2588 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Growth delay, Upslanted palpebral fissure, Ptosis |
OMIM:619758 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Telecanthus, Downslanted palpebral fissures, Sparse lateral eyebrow, Ptosis |
ORPHA:314655 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Highly arched eyebrow, Kyphosis, Long eyelashes, Scoliosis, Intrauterine growth retardation, Shor... |
OMIM:619005 |
Infant Botulism |
|
Respiratory insufficiency due to muscle weakness, Keratoconjunctivitis sicca, Ptosis |
ORPHA:178478 |
Reni Syndrome |
|
Ataxia, Ptosis |
OMIM:617575 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Telecanthus, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Ptosis |
OMIM:110100 |
Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Epicanthus, Facial hypotonia, Short neck, Synophrys, Cervical C5/C6 vertebrae fusi... |
OMIM:613458 |
Noonan Syndrome |
|
Short stature, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Downslanted palpe... |
ORPHA:648 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Epicanthus, Short neck, Kyphosis, Elbow flexion contracture, Knee flexion contra... |
OMIM:619194 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis, Skeletal muscle atrophy |
OMIM:219080 |
16Q24.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Kyphosis, Upslanted palpebral fissure, Scoliosis |
ORPHA:261250 |
Ohdo Syndrome, X-Linked |
|
Epicanthus, Sparse eyebrow, Scoliosis, Blepharophimosis, Downslanted palpebral fissures, Ptosis |
OMIM:300895 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Epicanthus, Ptosis |
OMIM:220500 |
Leopard Syndrome 1 |
|
Scapular winging, Epicanthus, Short stature, Kyphoscoliosis, Short neck, Delayed puberty, Delayed... |
OMIM:151100 |
Cardiofacioneurodevelopmental Syndrome |
|
Upslanted palpebral fissure, Kyphosis, Camptodactyly |
OMIM:619123 |
Joubert Syndrome 8 |
|
Ataxia, Ptosis |
OMIM:612291 |
Galloway-Mowat Syndrome 1 |
|
Epicanthus, Short stature, Ataxia, Camptodactyly, Intrauterine growth retardation, Joint contract... |
OMIM:251300 |
Alkaptonuria |
|
Vertebral fusion, Low back pain, Kyphosis, Thickened Achilles tendon, Intervertebral disc degener... |
OMIM:203500 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Kyphosis, Short stature, Muscle weakness |
OMIM:239000 |
Char Syndrome |
|
Downslanted palpebral fissures, Ptosis |
ORPHA:46627 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Ptosis, Short stature, Aplasia of the right hemidiaphragm, Hooded eyelid, Highly arched eyebrow, ... |
OMIM:619841 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Epicanthus, Kyphoscoliosis, Platyspondyly, Progressive congenital scoliosis, Downslanted palpebra... |
OMIM:225400 |
Giant Cell Arteritis |
|
Ataxia, Ophthalmoparesis, Muscle weakness, Ptosis |
ORPHA:397 |
Jacobsen Syndrome |
|
Epicanthus, Ectropion, Short stature, Short neck, Abnormal form of the vertebral bodies, Growth d... |
ORPHA:2308 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ragged-red muscle fibers, Muscle weakness, Ophthalmoparesis |
ORPHA:255210 |
Monosomy 9Q22.3 |
|
Epicanthus, Rhabdomyosarcoma, Short neck, Kyphosis, Abnormality of the vertebral column, Downslan... |
ORPHA:77301 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis |
ORPHA:261222 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Lumbar hyperlordosis, Hyperlordosis, Synophrys, Downslanted palpebral fissures, Short palpebral f... |
OMIM:616078 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Skeletal muscle atrophy, Short stature, Flexion contracture, Upslanted palpebral fissure, Scolios... |
OMIM:309590 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Epicanthus, Short stature, Highly arched eyebrow, Short neck, Postnatal growth retardation, Downs... |
OMIM:613563 |
Coffin-Siris Syndrome 4 |
|
Short stature, Macroglossia, Long eyelashes, Scoliosis, Intrauterine growth retardation, Thick ey... |
OMIM:614609 |
Shprintzen Omphalocele Syndrome |
|
Epicanthus, Lumbar hyperlordosis, Short stature, Kyphosis, Scoliosis |
OMIM:182210 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ankle flexion contracture, Kyphosis, Birth length less than 3rd percentile, Gait disturbance, Sco... |
ORPHA:464311 |
Xia-Gibbs Syndrome |
|
Upslanted palpebral fissure, Downslanted palpebral fissures, Ptosis |
OMIM:615829 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Short stature, Almond-shaped palpebral fissure, Kyphosis, Flexion contracture, Scoliosis |
ORPHA:398069 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617821 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Kyphosis, Bulbar palsy, Hypomimic face, Contractures of the large joints |
OMIM:617527 |
Lathosterolosis |
|
Abnormal thoracic spine morphology, Epicanthus, Intrauterine growth retardation, Downslanted palp... |
ORPHA:46059 |
Cohen-Gibson Syndrome |
|
Epicanthus, Flexion contracture, Gait disturbance, Scoliosis, Camptodactyly, Downslanted palpebra... |
OMIM:617561 |
Au-Kline Syndrome |
|
Sacral dimple, Thoracolumbar scoliosis, Lagophthalmos, Vertebral segmentation defect, Shallow orb... |
OMIM:616580 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Short stature, Kyphoscoliosis, Highly arched eyebrow, Hypoplasia of the odont... |
OMIM:602535 |
Smith-Lemli-Opitz Syndrome |
|
Epicanthus, Short stature, Rhizomelia, Congenital diaphragmatic hernia, Short neck, Abnormal eyel... |
ORPHA:818 |
Cornelia De Lange Syndrome 1 |
|
Short stature, Congenital diaphragmatic hernia, Short neck, Curly eyelashes, Highly arched eyebro... |
OMIM:122470 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Difficulty walking, Scoliosis, Achalasia, Ineffective esophageal peristalsis |
OMIM:619482 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Ptosis, Sacral dimple, Epicanthus, Hyperlordosis, Postnatal growth retardati... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Ptosis, Sacral dimple, Epicanthus, Hyperlordosis, Postnatal growth retardati... |
ORPHA:363958 |
Orthostatic Hypotension 1 |
|
Weakness of facial musculature, Ptosis |
OMIM:223360 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Ataxia, Rhabdomyolysis, Ragged-red muscle fibers, Neonatal death, Muscle weakness, Ptosis |
OMIM:124000 |
Codas Syndrome |
|
Short stature, Hypoplasia of the odontoid process, Coronal cleft vertebrae, Lumbar scoliosis, Sco... |
OMIM:600373 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Epicanthus, Short stature, Ataxia, Downslanted palpebral fissures, Ptosis |
OMIM:300661 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Severe short stature, Ataxia, Postnatal growth retardation, Kyphosis, In... |
ORPHA:191 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Short stature, Short neck, Kyphosis, Scoliosis |
ORPHA:140 |
Congenital Fibrosis Of Extraocular Muscles |
|
Nonprogressive restrictive external ophthalmoplegia, Torticollis, Levator palpebrae superioris at... |
ORPHA:45358 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Mild postnatal growth retardation, Kyphosis, Flexion contracture, Unstea... |
ORPHA:90324 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Epicanthus, Broad-based gait, Macroglossia, Downslanted palpebral fissures, Thick eyebrow, Ptosis |
ORPHA:369950 |
Plaa-Associated Neurodevelopmental Disorder |
|
Kyphosis, Bulbar palsy, Limb hypertonia, Contractures of the large joints |
ORPHA:521426 |
Multiple System Atrophy 1, Susceptibility To |
|
Skeletal muscle atrophy, Ataxia, Ptosis |
OMIM:146500 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Growth delay, Ptosis |
OMIM:615453 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Epicanthus, Short stature, Short neck, Synophrys, Upslanted palpebral fissure, Blepharophimosis, ... |
OMIM:616734 |
Holt-Oram Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:392 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Epicanthus, Postnatal growth retardation, Vertebral segmentation defect, Short ... |
ORPHA:959 |
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Ptosis |
ORPHA:2824 |
Zttk Syndrome |
|
Epicanthus, Short stature, Sparse eyebrow, Kyphosis, Flexion contracture, Hemivertebrae, Growth d... |
OMIM:617140 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Kyphosis, Bilateral ptosis, Keratoconjunctivit... |
ORPHA:536532 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Narrow palpebral fissure, Ptosis |
OMIM:615145 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis, Ataxia, Dysmetria, Knee flexion contracture |
OMIM:619708 |
Frank-Ter Haar Syndrome |
|
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Growth delay, Prominent coccy... |
OMIM:249420 |
Muenke Syndrome |
|
Ptosis |
ORPHA:53271 |
Neurofaciodigitorenal Syndrome |
|
Epicanthus, Short stature, Intrauterine growth retardation, Downslanted palpebral fissures, Ptosis |
ORPHA:2673 |
Aniridia-Absent Patella Syndrome |
|
Ptosis |
ORPHA:1069 |
Cockayne Syndrome A |
|
Hip contracture, Short stature, Ataxia, Kyphosis, Severe postnatal growth retardation, Gait distu... |
OMIM:216400 |
Hajdu-Cheney Syndrome |
|
Telecanthus, Short stature, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Synophrys, Sc... |
ORPHA:955 |
Mend Syndrome |
|
Sacral dimple, Telecanthus, Short stature, Kyphosis, Upslanted palpebral fissure, Limb hypertonia |
ORPHA:401973 |
Rapp-Hodgkin Syndrome |
|
Absent lacrimal punctum, Sparse eyelashes, Short stature, Sparse eyebrow, Ptosis |
OMIM:129400 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Synophrys, Telecanthus, Ptosis |
ORPHA:3440 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Short stature, Kyphosis, Gait disturbance, Scoliosis, Intrauterine g... |
ORPHA:464306 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Achalasia, Ataxia, Ptosis |
OMIM:615510 |
Alstrom Syndrome |
|
Kyphosis, Short stature, Scoliosis |
OMIM:203800 |
Acrofrontofacionasal Dysostosis 1 |
|
Short stature, Long eyebrows, Long eyelashes, S-shaped palpebral fissures, Ptosis |
OMIM:201180 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ataxia, Kyphoscoliosis, Kyphosis, Upslanted palpebral fissure, Left ventricular noncompaction, Sc... |
OMIM:300967 |
Frontofacionasal Dysplasia |
|
Telecanthus, Ankyloblepharon, Eyelid coloboma, S-shaped palpebral fissures, Blepharophimosis, Abs... |
OMIM:229400 |
Arboleda-Tham Syndrome |
|
Epicanthus, Lacrimal duct stenosis, Highly arched eyebrow, Upper limb amyotrophy, Upper eyelid ed... |
OMIM:616268 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Broad eyebrow, Torticollis, Broad-based gait, Palpebral edema, Ataxia, Kyphosis, Synop... |
OMIM:619475 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis, Vertebral compress... |
OMIM:610915 |
Gaucher Disease Type 1 |
|
Growth delay, Kyphosis, Vertebral compression fracture, Delayed puberty |
ORPHA:77259 |
Osteoporosis-Pseudoglioma Syndrome |
|
Short stature, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Ve... |
OMIM:259770 |
Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Decreased muscle mass, Short stature, Epicanthus, Highly arched ... |
OMIM:194190 |
Coffin-Siris Syndrome |
|
Postnatal growth retardation, Prominent eyelashes, Growth delay, Scoliosis, Intrauterine growth r... |
ORPHA:1465 |
Cree Mental Retardation Syndrome |
|
Downslanted palpebral fissures, Ptosis |
OMIM:606851 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Athetosis, Scoliosis |
OMIM:613454 |
Gabriele-De Vries Syndrome |
|
Distal lower limb amyotrophy, Waddling gait, Telecanthus, Facial hypotonia, Lacrimal duct stenosi... |
ORPHA:506358 |
Neuroocular Syndrome |
|
Scapular winging, Sacral dimple, Short stature, Highly arched eyebrow, Lagophthalmos, Synophrys, ... |
OMIM:619539 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Epicanthus, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Pectoral muscle hypoplasia... |
ORPHA:306542 |
Mgat2-Cdg |
|
Downslanted palpebral fissures, Kyphosis, Long eyelashes, Scoliosis |
ORPHA:79329 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Flexion contracture, Ptosis |
OMIM:309520 |
Cerebrooculonasal Syndrome |
|
Epicanthus, Sparse eyelashes, Postnatal growth retardation, Sparse eyebrow, Ptosis |
OMIM:605627 |
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
|
Blepharophimosis, Telecanthus, Long eyelashes, Ptosis |
OMIM:604314 |
Kabuki Syndrome 1 |
|
Short stature, Highly arched eyebrow, Postnatal growth retardation, Sparse eyebrow, Bilateral pto... |
OMIM:147920 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ptosis, Telecanthus, Epicanthus, Broad-based gait, Highly arched eyebrow, Gait ataxia, Camptodact... |
OMIM:280000 |
Rubinstein-Taybi Syndrome 1 |
|
Broad eyebrow, Epicanthus, Short stature, Highly arched eyebrow, Postnatal growth retardation, Fl... |
OMIM:180849 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Short stature, Highly arched eyebrow, Short neck, Intrauterine growth retardation, Ptosis |
ORPHA:2282 |
Opitz Gbbb Syndrome |
|
Telecanthus, Short stature, Congenital diaphragmatic hernia, Vertebral segmentation defect, Downs... |
ORPHA:2745 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Short stature, Eyelid coloboma, Scoliosis, Difficulty walk... |
ORPHA:51 |
Cono-Spondylar Dysplasia |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:420794 |
Menke-Hennekam Syndrome 1 |
|
Epicanthus, Telecanthus, Thick eyebrow, Flexion contracture, Upslanted palpebral fissure, Long ey... |
OMIM:618332 |
Spondyloenchondrodysplasia |
|
Kyphosis, Platyspondyly, Short stature, Disproportionate short-trunk short stature |
ORPHA:1855 |
Vici Syndrome |
|
Epicanthus, Postnatal growth retardation, Myopathy, Left ventricular hypertrophy, Ptosis |
OMIM:242840 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Epicanthus, Short stature, Short neck, Long eyelashes, Downslanted palpebral fissures, Ptosis |
OMIM:607721 |
Cardiospondylocarpofacial Syndrome |
|
Epicanthus, Telecanthus, Short stature, Congenital diaphragmatic hernia, Upslanted palpebral fiss... |
OMIM:157800 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Broad-based gait, Ophthalmoplegia, Limb ataxia, Growth delay, Scoliosis, Delayed puberty, Thoraco... |
ORPHA:2072 |
17Q24.2 Microdeletion Syndrome |
|
Short neck, Synophrys, Scoliosis, Downslanted palpebral fissures, Thick eyebrow, Ptosis |
ORPHA:529962 |
Prolidase Deficiency |
|
Ptosis |
OMIM:170100 |
Lathosterolosis |
|
Epicanthus, Lumbosacral meningocele, Growth delay, Downslanted palpebral fissures, Butterfly vert... |
OMIM:607330 |
Congenital Disorder Of Deglycosylation 1 |
|
Facial hypotonia, Dysmetria, Intrinsic hand muscle atrophy, Athetosis, Scoliosis, Ptosis |
OMIM:615273 |
Osteogenesis Imperfecta |
|
Short stature, Cervical kyphosis, Rhizomelia, Ataxia, Kyphosis, Flexion contracture, Vertebral co... |
ORPHA:666 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Severe short stature, Abnormal nasolacrimal system morphology, Camptodactyly of f... |
ORPHA:2273 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Ptosis |
ORPHA:568051 |
Coffin-Siris Syndrome 1 |
|
Sacral dimple, Short stature, Congenital diaphragmatic hernia, Postnatal growth retardation, Kyph... |
OMIM:135900 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Short stature, Highly arched eyebrow, Synophrys, Macroglossia, Long eyelashes, Downslanted palpeb... |
ORPHA:444077 |
Cowden Syndrome 5 |
|
Kyphosis, Scoliosis |
OMIM:615108 |
Charge Syndrome |
|
Epicanthus, Short stature, Facial palsy, Highly arched eyebrow, Postnatal growth retardation, Hem... |
ORPHA:138 |
Proboscis Lateralis |
|
Abnormal eyebrow morphology, Epicanthus, Abnormal nasolacrimal system morphology, Abnormal locati... |
ORPHA:141099 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Thick eyebrow, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2769 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Epicanthus, Hyperlordosis, Synophrys, Downslanted palpebral fissures, Ptosis |
OMIM:301066 |
Singleton-Merten Syndrome 1 |
|
Waddling gait, Short stature, Scoliosis, Muscle fiber atrophy, Tendon rupture, Muscle weakness, P... |
OMIM:182250 |
Cowden Syndrome 6 |
|
Kyphosis, Scoliosis |
OMIM:615109 |
Acromelic Frontonasal Dysplasia |
|
Telecanthus, Ptosis |
ORPHA:1827 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Sacral dimple, Broad-based gait, Short stature, Ataxia, Kyphosis, Upslanted palpebral fissure, Ga... |
ORPHA:268261 |
Prolactinoma |
|
Oculomotor nerve palsy, Ptosis, Internal ophthalmoplegia, Delayed puberty |
ORPHA:2965 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Epicanthus, Telecanthus, Short stature, Kyphosis, Spinal canal stenosis,... |
ORPHA:828 |
Cowden Syndrome |
|
Short stature, Ataxia, Kyphosis, Macroglossia, Scoliosis, Conjunctival hamartoma |
ORPHA:201 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Ptosis, Sacral dimple, Downslanted palpebral fissures, Eyelid coloboma |
ORPHA:2211 |
Mesomelia-Synostoses Syndrome |
|
Telecanthus, Mesomelic short stature, Downslanted palpebral fissures, Abnormal vertebral morpholo... |
OMIM:600383 |
Malignant Atrophic Papulosis |
|
Muscle flaccidity, Ptosis |
ORPHA:679 |
Cockayne Syndrome B |
|
Severe short stature, Ataxia, Postnatal growth retardation, Kyphosis, Intrauterine growth retarda... |
OMIM:133540 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Severe short stature, Abnormal nasolacrimal system morphology, Facial palsy, Kyphosis, Scoliosis |
ORPHA:2658 |
Mend Syndrome |
|
Sacral dimple, Short stature, Kyphosis, Upslanted palpebral fissure, Narrow palpebral fissure |
OMIM:300960 |
Ayme-Gripp Syndrome |
|
Short stature, Upslanted palpebral fissure, Camptodactyly, Downslanted palpebral fissures, Broad ... |
OMIM:601088 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Downslanted palpebral fissures, Ptosis |
ORPHA:1555 |
1P36 Deletion Syndrome |
|
Abnormal eyebrow morphology, Epicanthus, Short stature, Camptodactyly of finger, Kyphosis, Spinal... |
ORPHA:1606 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Intrauterine growth retardation, Epicanthus, Joint contracture of the 5th finger, Ptosis |
OMIM:619934 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Kyphosis, Scoliosis, Delayed puberty |
OMIM:619718 |
Non-Functioning Pituitary Adenoma |
|
Oculomotor nerve palsy, Internal ophthalmoplegia, Ptosis |
ORPHA:91349 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis |
OMIM:610475 |
Monosomy 13Q14 |
|
Epicanthus, Short stature, Short neck, Intrauterine growth retardation, Ptosis |
ORPHA:1587 |
Poland Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Retinal hamartoma, Kyphosis, Aplasia of the pectoral... |
ORPHA:2911 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Epicanthus, Kyphoscoliosis, Upslanted palpebral fissure, Epicanthus inversus, Short palpebral fis... |
OMIM:618820 |
Wagro Syndrome |
|
Downslanted palpebral fissures, Ptosis |
OMIM:612469 |
Orofaciodigital Syndrome Iii |
|
Kyphosis |
OMIM:258850 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Sacroiliac arthritis |
OMIM:106300 |
Fanconi Anemia |
|
Epicanthus, Short stature, Abnormal eyelid morphology, Almond-shaped palpebral fissure, Growth de... |
ORPHA:84 |
Cowden Syndrome 1 |
|
Kyphosis, Scoliosis |
OMIM:158350 |
Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis |
OMIM:300942 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Epicanthus, Severe short stature, Abnormal nasolacrimal system morphology, Abnormal eyelid morpho... |
ORPHA:2526 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Torticollis, Epicanthus, Short neck, Antecubital pterygium, Knee flexion contracture, Popliteal p... |
OMIM:609945 |
Good Syndrome |
|
Fatigable weakness, Ptosis |
ORPHA:169105 |
Primrose Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Epicanthus, Short stature, Ataxia, Kyphosis, Synophrys,... |
OMIM:259050 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Ptosis, Camptodactyly |
ORPHA:228426 |
Wrinkly Skin Syndrome |
|
Scapular winging, Epicanthus, Short stature, Hypoplasia of the musculature, Kyphosis, Scoliosis, ... |
OMIM:278250 |
Cornelia De Lange Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Short neck, Curly eyelashes, Highly arched eyebro... |
ORPHA:199 |
Faciocardiomelic Syndrome |
|
Telecanthus, Cuboid-shaped vertebral bodies, Short eyelashes, Ptosis |
OMIM:612731 |
Coffin-Lowry Syndrome |
|
Telecanthus, Short stature, Highly arched eyebrow, Kyphosis, Lumbar kyphosis, Scoliosis, Downslan... |
OMIM:303600 |
Pachydermoperiostosis |
|
Scoliosis, Ptosis |
ORPHA:2796 |
Branchiooculofacial Syndrome |
|
Telecanthus, Facial palsy, Hyperlordosis, Postnatal growth retardation, Kyphosis, Short neck, Elb... |
OMIM:113620 |
Visual Impairment And Progressive Phthisis Bulbi |
|
Ptosis |
OMIM:618283 |
22Q11.2 Deletion Syndrome |
|
Telecanthus, Epicanthus, Short stature, Short neck, Abnormal eyelid morphology, Upslanted palpebr... |
ORPHA:567 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Lacrimal duct stenosis, Lower eyelid coloboma, Upper eyelid coloboma, Dow... |
OMIM:154500 |
Noonan Syndrome 1 |
|
Epicanthus, Short stature, Kyphoscoliosis, Short neck, Postnatal growth retardation, Downslanted ... |
OMIM:163950 |
Neurofibromatosis Type 1 |
|
Short stature, Ataxia, Abnormal eyelid morphology, Kyphosis, Lisch nodules, Scoliosis, Delayed pu... |
ORPHA:636 |
Diamond-Blackfan Anemia |
|
Epicanthus, Short stature, Short neck, Growth delay, Abnormality of the thenar eminence, Ptosis |
ORPHA:124 |
14Q22Q23 Microdeletion Syndrome |
|
Downslanted palpebral fissures, Epicanthus, Short stature, Ptosis |
ORPHA:264200 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Intrauterine growth retardation, Epicanthus, Ptosis |
OMIM:618164 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Absent eyelashes, Kyphosis, Absent eyebrow |
ORPHA:85199 |
Aspartylglucosaminuria |
|
Short stature, Kyphosis, Macroglossia, Platyspondyly, Spondylolysis, Scoliosis, Beaking of verteb... |
OMIM:208400 |
Lacrimoauriculodentodigital Syndrome |
|
Lacrimal gland aplasia, Absent lacrimal punctum, Hypoplasia of the lacrimal punctum, Keratoconjun... |
ORPHA:2363 |
Noonan Syndrome 3 |
|
Downslanted palpebral fissures, Epicanthus, Short stature, Ptosis |
OMIM:609942 |
Cleidocranial Dysplasia 1 |
|
Short stature, Kyphosis, Moderately short stature, Spondylolysis, Scoliosis, Spondylolisthesis |
OMIM:119600 |
Holoprosencephaly 4 |
|
Ptosis |
OMIM:142946 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Downslanted palpebral fissures, Ptosis |
OMIM:123790 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis |
OMIM:610489 |
Pearson Syndrome |
|
Ataxia, Postnatal growth retardation, Ophthalmoplegia, Growth delay, Ptosis |
ORPHA:699 |
Auriculocondylar Syndrome |
|
Ptosis |
ORPHA:137888 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Short stature, Ptosis |
OMIM:620303 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Sacral dimple, Epicanthus, Short stature, Short neck, Intrauterine growth retardation, Short palp... |
OMIM:617157 |
Acromelic Frontonasal Dysostosis |
|
Telecanthus, Downslanted palpebral fissures, Ptosis |
OMIM:603671 |
Erdheim-Chester Disease |
|
Xanthelasma, Ataxia, Ptosis |
ORPHA:35687 |
Microphthalmia, Syndromic 2 |
|
Short stature, Flexion contracture, Laterally curved eyebrow, Scoliosis, Blepharophimosis, Contra... |
OMIM:300166 |
Costello Syndrome |
|
Epicanthus, Short stature, Rhabdomyosarcoma, Short neck, Achilles tendon contracture, Macroglossi... |
OMIM:218040 |
Autosomal Dominant Cutis Laxa |
|
Postnatal growth retardation, Abnormal curvature of the vertebral column, Scoliosis, Intrauterine... |
ORPHA:90348 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Epicanthus, Short stature, Short neck, Postnatal growth retardation, Kyphosis, Neck pterygia, Gro... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Epicanthus, Short stature, Short neck, Postnatal growth retardation, Kyphosis, Neck pterygia, Gro... |
ORPHA:99228 |
Monosomy X |
|
Epicanthus, Short stature, Short neck, Postnatal growth retardation, Kyphosis, Neck pterygia, Gro... |
ORPHA:99226 |
Turner Syndrome |
|
Epicanthus, Short stature, Short neck, Postnatal growth retardation, Kyphosis, Neck pterygia, Gro... |
ORPHA:881 |
Lowe Oculocerebrorenal Syndrome |
|
Short stature, Camptodactyly of finger, Postnatal growth retardation, Kyphosis, Platyspondyly, Sc... |
OMIM:309000 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Kyphosis, Scoliosis, Downslanted palpebral fissures, Spondylolisthesis |
ORPHA:558 |
Thrombocytopenia-Absent Radius Syndrome |
|
Fused cervical vertebrae, Short stature, Shoulder muscle hypoplasia, Ptosis |
OMIM:274000 |
Peters-Plus Syndrome |
|
Rhizomelia, Diastasis recti, Short neck, Postnatal growth retardation, Hemivertebrae, Birth lengt... |
OMIM:261540 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Ptosis, Scapular winging, Mild postnatal growth retardation, Thoracolumbar scoliosis, Growth dela... |
OMIM:150230 |
Monosomy 22Q13.3 |
|
Epicanthus, Sacral dimple, Palpebral edema, Long eyelashes, Thick eyebrow, Ptosis |
ORPHA:48652 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Ptosis |
ORPHA:100085 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Ptosis |
OMIM:259100 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Ptosis |
ORPHA:3217 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Ptosis |
OMIM:167100 |
Choreoacanthocytosis |
|
Distal muscle weakness, Peroneal muscle atrophy, Myopathy, Distal amyotrophy, Muscle fiber atrophy |
ORPHA:2388 |
Cerebrocostomandibular Syndrome |
|
Kyphosis, Short stature, Intrauterine growth retardation |
ORPHA:1393 |
Degcags Syndrome |
|
Abnormal eyebrow morphology, Sacral dimple, Diaphragmatic eventration, Abnormal eyelash morpholog... |
OMIM:619488 |
Williams Syndrome |
|
Sacral dimple, Epicanthus, Short stature, Ataxia, Hyperlordosis, Kyphosis, Abnormal form of the v... |
ORPHA:904 |
Arima Syndrome |
|
Growth delay, Ataxia, Ptosis |
OMIM:243910 |
Oculocerebrorenal Syndrome Of Lowe |
|
Short stature, Kyphosis, Upslanted palpebral fissure, Platyspondyly, Scoliosis, Delayed puberty |
ORPHA:534 |
Ramon Syndrome |
|
Kyphosis, Short stature, Scoliosis |
OMIM:266270 |
Pituitary Apoplexy |
|
Ptosis |
ORPHA:95613 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Disproportiona... |
OMIM:300106 |
17Q11 Microdeletion Syndrome |
|
Short stature, Rhabdomyosarcoma, Kyphosis, Lisch nodules, Abnormality of the vertebral column, Be... |
ORPHA:97685 |
Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Short neck, Intrauterine growth retardation, Epicanthus inversus, Ptosis |
OMIM:249000 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Epicanthus, Short stature, Kyphoscoliosis, Short neck, Upslanted palpebral fissure, Macroglossia,... |
OMIM:309580 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Short stature, Highly arched eyebrow, Trichiasis, Postnatal growth retardation, Nasolacrimal duct... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Short stature, Highly arched eyebrow, Trichiasis, Postnatal growth retardation, Nasolacrimal duct... |
ORPHA:353277 |
Classic Homocystinuria |
|
Kyphosis, Scoliosis |
ORPHA:394 |
Occipital Horn Syndrome |
|
Kyphosis, Platyspondyly, Downslanted palpebral fissures, Scoliosis |
ORPHA:198 |
Proteus Syndrome |
|
Decreased muscle mass, Retinal hamartoma, Kyphosis, Abnormal form of the vertebral bodies, Scolio... |
ORPHA:744 |
Acromegaly |
|
Palpebral edema, Kyphosis, Synophrys, Spinal canal stenosis, Macroglossia |
ORPHA:963 |
Somatomammotropinoma |
|
Palpebral edema, Kyphosis, Synophrys, Spinal canal stenosis, Macroglossia |
ORPHA:314769 |
Chime Syndrome |
|
Upslanted palpebral fissure, Epicanthus, Ptosis |
ORPHA:3474 |
Okamoto Syndrome |
|
Long palpebral fissure, Severe postnatal growth retardation, Scoliosis, Ptosis |
ORPHA:2729 |
Tsh-Secreting Pituitary Adenoma |
|
Oculomotor nerve palsy, Ptosis, Internal ophthalmoplegia, Delayed puberty |
ORPHA:91347 |
Smith-Lemli-Opitz Syndrome |
|
Sacral dimple, Epicanthus, Short stature, Growth delay, Intrauterine growth retardation, Ptosis |
OMIM:270400 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Short stature, Absent eyelashes, Growth delay, Scoliosis, Neonatal death, Butterf... |
OMIM:308205 |
Joubert Syndrome 5 |
|
Ataxia, Ptosis |
OMIM:610188 |
Hypermobile Ehlers-Danlos Syndrome |
|
Epicanthus, Aplasia/Hypoplasia of the abdominal wall musculature, Keratoconjunctivitis sicca, Sco... |
ORPHA:285 |
Occipital Horn Syndrome |
|
Growth delay, Kyphosis, Platyspondyly |
OMIM:304150 |
Joubert Syndrome 21 |
|
Ataxia, Ptosis |
OMIM:615636 |
Pallister-Killian Syndrome |
|
Sacral dimple, Telecanthus, Rhizomelia, Sparse eyelashes, Kyphoscoliosis, Mesomelic/rhizomelic li... |
OMIM:601803 |
Zygomycosis |
|
External ophthalmoplegia, Chemosis, Ptosis |
ORPHA:73263 |
Aniridia 1 |
|
Bilateral ptosis, Ptosis |
OMIM:106210 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Difficulty walking, Ptosis |
OMIM:618748 |
Specc1L-Related Hypertelorism Syndrome |
|
Thick eyebrow, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis |
ORPHA:1519 |
Charge Syndrome |
|
Facial palsy, Postnatal growth retardation, Hemivertebrae, Scoliosis, Delayed puberty, Downslante... |
OMIM:214800 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Ptosis |
OMIM:146255 |
Viss Syndrome |
|
Ptosis, Ectropion, Short stature, Kyphosis, Macroglossia, Scoliosis, Long palpebral fissure, Cont... |
OMIM:619472 |
Pallister-Hall Syndrome |
|
Short stature, Hemivertebrae, Distal arthrogryposis, Intrauterine growth retardation, Downslanted... |
ORPHA:672 |
Craniofacial Microsomia 1 |
|
Ptosis, Block vertebrae, Hypoplasia of facial musculature, Blepharophimosis, Hemivertebrae, Upper... |
OMIM:164210 |
Saethre-Chotzen Syndrome |
|
Abnormal nasolacrimal system morphology, Ptosis, Short stature, Shallow orbits |
OMIM:101400 |
Mowat-Wilson Syndrome |
|
Short stature, Generalized muscle hypertrophy, Downslanted palpebral fissures, Broad eyebrow, Ptosis |
OMIM:235730 |
Kawasaki Disease |
|
Conjunctivitis, Ptosis |
ORPHA:2331 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Telecanthus, Broad-based gait, Short stature, Inability to walk, Flexion contracture, Scoliosis, ... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Telecanthus, Epicanthus, Short stature, Broad-based gait, Highly arched eyebrow, Inability to wal... |
ORPHA:261552 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Ptosis |
OMIM:614231 |
Phace Syndrome |
|
Abnormality of the orbital region, Ptosis |
ORPHA:42775 |
Sotos Syndrome |
|
Hip contracture, Sacrococcygeal teratoma, Ankle flexion contracture, Kyphosis, Bilateral camptoda... |
ORPHA:821 |
Vascular Ehlers-Danlos Syndrome |
|
Telecanthus, Hypoplastic lacrimal duct, Short stature, Epicanthus, Abnormal eyelash morphology, A... |
ORPHA:286 |
Microphthalmia, Syndromic 1 |
|
Lumbar hyperlordosis, Kyphoscoliosis, Growth delay, Scoliosis, Camptodactyly, Joint contracture o... |
OMIM:309800 |
Yunis-Varon Syndrome |
|
Epicanthus, Sparse eyelashes, Anterior concavity of thoracic vertebrae, Sparse eyebrow, Kyphosis,... |
OMIM:216340 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Ptosis |
OMIM:161700 |
Alström Syndrome |
|
Thoracic scoliosis, Short stature, Ataxia, Kyphosis, Lumbar scoliosis, Delayed menarche |
ORPHA:64 |