| Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
| Digital Clubbing, Isolated Congenital |
|
Clubbing |
OMIM:119900 |
| Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
| Tendons, Extensor, Of Fingers, Anomalous Insertion Of |
|
Abnormal finger morphology |
OMIM:187390 |
| Trigger Thumb |
|
Abnormal thumb morphology |
OMIM:190410 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
| Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
| Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
| Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
| Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
| Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
| Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
| Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
| Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
| Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
| Brachydactyly, Type A1, D |
|
Short proximal phalanx of thumb, Short proximal phalanx of finger, Short middle phalanx of the 5t... |
OMIM:616849 |
| Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
| Brachydactyly, Type A2 |
|
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
| Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
| Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... |
OMIM:620286 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
| Sugarman Brachydactyly |
|
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... |
OMIM:272150 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
| Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness, Facial palsy, ... |
OMIM:254110 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
| Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
| Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Congenital hip dislocation, Ankle flexion contracture, Centrally nucleat... |
OMIM:117000 |
| Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Distal muscle ... |
OMIM:616199 |
| Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Abdominal wall muscle weakness, Centra... |
OMIM:619733 |
| 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, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Distal muscle weakness, Autophagic vacuoles, Centrally nucleated skeletal muscl... |
OMIM:608423 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Calf muscle pseudohypertrophy, Scapular winging, Neck flexor weakness, Centrally nucleated skelet... |
OMIM:608358 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
| Metacarpal 4-5 Fusion |
|
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... |
OMIM:309630 |
| Radial Hemimelia |
|
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... |
ORPHA:93321 |
| Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
| Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
| 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 |
| Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals... |
OMIM:616852 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Abdominal wall muscle weakness, Centrally nucleated skeletal muscle fibers, Fat... |
OMIM:618129 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Distal muscle weakness, Ankle flexion contracture, Centrally nucleated s... |
OMIM:617760 |
| Episodic Muscle Weakness, X-Linked |
|
Muscle weakness |
OMIM:300211 |
| Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
| Chromosome 2Q31.1 Duplication Syndrome |
|
Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb |
OMIM:613681 |
| Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Hypotriglyceridemia, Short phalanx o... |
ORPHA:85167 |
| Myopathy, Distal, Tateyama Type |
|
Neck flexor weakness, Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic... |
OMIM:614321 |
| Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Fatiguable weakness of proximal limb muscles, Muscle ... |
ORPHA:2593 |
| Brachydactyly, Type A3 |
|
Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy... |
OMIM:112700 |
| Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Limited wrist... |
ORPHA:602 |
| Familial Digital Arthropathy-Brachydactyly |
|
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... |
ORPHA:85169 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Z-band streami... |
OMIM:619178 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Distal muscle weakness, Proxima... |
OMIM:618655 |
| Brachydactyly, Type A1, C |
|
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... |
OMIM:615072 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Digital Arthropathy-Brachydactyly, Familial |
|
Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ... |
OMIM:606835 |
| Craniosynostosis, Adelaide Type |
|
Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... |
OMIM:600593 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy, Mu... |
OMIM:613530 |
| Syndactyly-Polydactyly-Earlobe Syndrome |
|
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... |
OMIM:186350 |
| Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
| Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Gowers... |
OMIM:616228 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Type 2 muscle... |
OMIM:620235 |
| Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... |
OMIM:182255 |
| Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe jo... |
OMIM:620310 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
| Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
| Brachydactyly Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... |
ORPHA:93396 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
| Brachydactyly, Type A1, B |
|
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... |
OMIM:607004 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Neck flexor weakness, Dista... |
ORPHA:178464 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Foot dorsiflexor weakness, Peroneal muscle atrophy, Scapuloperoneal weakness, Z-band streaming, T... |
OMIM:181400 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Proximal ... |
OMIM:612999 |
| Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Distal muscle weakness, Short stature, Distal amyotrophy, Type 1 muscle fiber pr... |
OMIM:619042 |
| Polydactyly, Postaxial, Type A7 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... |
OMIM:617642 |
| Myopathy, Centronuclear, 2 |
|
Scapular winging, Distal muscle weakness, Facial palsy, Centrally nucleated skeletal muscle fiber... |
OMIM:255200 |
| Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... |
OMIM:183600 |
| Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Distal muscle weakness, Autophagic vacuoles, Facial hypotonia, Proximal muscle weakness, Fatty re... |
ORPHA:266 |
| Congenital Myopathy 18 |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Ophthalmoplegia... |
OMIM:620246 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Flexion contra... |
OMIM:618484 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Proximal muscle weakness, Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal... |
OMIM:618848 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Distal muscle weakness, Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated s... |
OMIM:617072 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Limb-girdle muscle weakness... |
ORPHA:86812 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly |
OMIM:600384 |
| Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Proximal muscle weakness, Quadriceps m... |
ORPHA:611 |
| Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Distal upper limb muscle weakness, Muscle fiber splitting, Weakness ... |
OMIM:617030 |
| Myopathy, Centronuclear, 4 |
|
Muscle weakness, Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
| Brachydactyly, Type A1 |
|
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... |
OMIM:112500 |
| Nonaka Myopathy |
|
Distal muscle weakness, Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle... |
OMIM:605820 |
| Myopathy, Vacuolar, With Casq1 Aggregates |
|
Muscle weakness, Muscle fiber calsequestrin 1-containing inclusion bodies, Proximal muscle weakness |
OMIM:616231 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
| 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 |
| Peripheral Dysostosis |
|
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
| Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
| Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly |
ORPHA:2935 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Proximal muscle... |
OMIM:618823 |
| Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Progressive... |
ORPHA:178400 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity, Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pe... |
ORPHA:2370 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... |
OMIM:617066 |
| Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly |
OMIM:615938 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Scapular winging, Proximal muscle weakness, Angulated muscle fibers, Shoulder girdle muscle weakn... |
OMIM:619477 |
| Congenital Myopathy 3 With Rigid Spine |
|
Poor head control, Short stature, Facial palsy, Neck flexor weakness, Centrally nucleated skeleta... |
OMIM:602771 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
| Winchester Syndrome |
|
Arthropathy, Corneal opacity, Kyphosis, Hirsutism, Osteolysis involving tarsal bones, Carpal oste... |
OMIM:277950 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... |
ORPHA:399058 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Bulbar palsy, Congenital hip dislocation, Limb joint contracture, Facial palsy, Centrally nucleat... |
OMIM:255310 |
| Distal Deletion 6P |
|
Ectopia pupillae, Atrial septal defect, Posterior embryotoxon, Corneal opacity, Micrognathia, Sho... |
ORPHA:96125 |
| Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o... |
ORPHA:93323 |
| Oculopharyngodistal Myopathy 2 |
|
Bulbar palsy, Distal muscle weakness, Fatty replacement of skeletal muscle, External ophthalmople... |
OMIM:618940 |
| Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
| Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Metatarsal... |
OMIM:612961 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Facial palsy, Generalized muscle weakness, Intrinsic hand muscle atrophy, Axial muscle weakness, ... |
ORPHA:178145 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Neck flexor weakness, Elbow contracture, Ankle contracture, Proximal muscle weak... |
OMIM:620386 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Synophrys, Abnormality of the elbow, Abnormal rib morphology, Delayed skeletal... |
ORPHA:3268 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Short stature, Neck flexor weakness, Ragged-red muscle f... |
ORPHA:457050 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, External ophth... |
OMIM:255320 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Proximal muscle weakness, Limb-girdle muscle weaknes... |
OMIM:608099 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Gowers sign, Increase... |
OMIM:613204 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Short stature, Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapulope... |
OMIM:255160 |
| Heart-Hand Syndrome Type 2 |
|
Abnormal clavicle morphology, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micro... |
ORPHA:1350 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Neck flexor weakness, Short stature, Facial palsy, Ragged-red muscle fibers, Proximal muscle weak... |
OMIM:616209 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Brachydactyly, Cataract, Sandal gap, Broad hallux, Persistence of primary teeth, Scarring alopeci... |
OMIM:618727 |
| Welander Distal Myopathy |
|
Distal amyotrophy, Distal muscle weakness, Rimmed vacuoles |
OMIM:604454 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Generalized muscle weakness, Increased variability in... |
OMIM:611705 |
| Mitochondrial Myopathy With Diabetes |
|
Facial palsy, Proximal muscle weakness, Ragged-red muscle fibers, Limb muscle weakness, Proximal ... |
OMIM:500002 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... |
ORPHA:1570 |
| Prenatal Bowing |
|
Bowing of the long bones |
OMIM:264050 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Distal muscle weakness, Proximal muscle weakness... |
OMIM:605637 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Poor head control, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Respi... |
ORPHA:486815 |
| Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Abnormal heart valve morphology, Corneal opacity, Hyperlordosis, Joint... |
ORPHA:577 |
| Metaphyseal Anadysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Aplasia/Hypoplasia of the... |
ORPHA:1040 |
| Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Rhegmatogenous retinal detachment, Enlarged joints, Abnormality ... |
ORPHA:485 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
| Heart-Hand Syndrome, Spanish Type |
|
Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly |
OMIM:140450 |
| Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Long... |
ORPHA:169186 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal form of the vertebral bodi... |
ORPHA:3104 |
| Myopathy, Centronuclear, 5 |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmop... |
OMIM:615959 |
| Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Distal muscle weakness, Proximal muscle weakness, In... |
OMIM:618654 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Congenital hip dislocation, Microvesicular hepatic steatosis, Reduced bone mineral density, Shoul... |
ORPHA:404454 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Abnormal thorax morphology, Abnormal heart morphology, Upper limb phocomelia, Abnorma... |
ORPHA:294975 |
| Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Increased laxity of ankles... |
ORPHA:750 |
| Zebra Body Myopathy |
|
Torticollis, Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal muscle weakness,... |
ORPHA:97240 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Ophthalmopl... |
ORPHA:401768 |
| Bethlem Myopathy 2 |
|
Scapular winging, Proximal muscle weakness, Flexion contracture, Hip dislocation, Myopathy, Incre... |
OMIM:616471 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect... |
OMIM:113000 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contr... |
ORPHA:75840 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
| Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
| Myopathy, Myofibrillar, 8 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers si... |
OMIM:617258 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short... |
ORPHA:968 |
| 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 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... |
OMIM:225280 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Renal insufficiency, Ulnar deviation of the hand, Proteinuria, Ankle swelling, Cornea... |
OMIM:166300 |
| Ophthalmomandibulomelic Dysplasia |
|
Obtuse angle of mandible, Corneal opacity, Camptodactyly of finger, Micromelia, Elbow dislocation... |
ORPHA:2741 |
| Congenital Myopathy 14 |
|
Hip contracture, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flex... |
OMIM:618414 |
| Inclusion Body Myositis |
|
Inflammatory myopathy, Distal muscle weakness, Proximal muscle weakness, Rimmed vacuoles |
OMIM:147421 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Scapuloperoneal weakness, Ac... |
OMIM:300696 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Neck flexor weakness, Proximal muscle weakness, Quadriceps muscle weakness, Ach... |
OMIM:603689 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Areflexia of upper limbs, Tre... |
OMIM:619574 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
| Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of ... |
OMIM:253010 |
| Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Short metacarpal, Short stature, Centrally nucleated skeletal muscle fib... |
OMIM:248800 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
| Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... |
ORPHA:603 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, Aggressive behavior, Optic atrop... |
ORPHA:313892 |
| 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 |
| Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... |
OMIM:112450 |
| Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Short neck, Pectus carinatum, Reduced bone mineral density, Abnormal dental en... |
ORPHA:582 |
| Bowen-Conradi Syndrome |
|
Clinodactyly of the 5th finger, Abnormal joint morphology, Rocker bottom foot, Micrognathia |
OMIM:211180 |
| Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
| Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
| 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 |
| Feingold Syndrome 2 |
|
Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyly, Short middle phalanx of ... |
OMIM:614326 |
| Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Micrognathia, Abnormal form of the vertebral bodies, Atrial sept... |
OMIM:194190 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Metaphyseal dysplasia, Epiphyseal dysplasia, Hepatomegaly, Elevated circulating cre... |
OMIM:614727 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
| Myopathy, Myofibrillar, 3 |
|
Progressive distal muscle weakness, Proximal muscle weakness, Achilles tendon contracture, Distal... |
OMIM:609200 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... |
OMIM:620068 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... |
OMIM:619566 |
| Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
| Brachydactyly Type C |
|
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... |
ORPHA:93384 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Hyperactivity, Rhi... |
ORPHA:239 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
ORPHA:1113 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morpholo... |
ORPHA:93351 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Polyhydramnios, Abnormal carpal morph... |
ORPHA:85166 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Unilateral renal agenesis, Short thorax, ... |
OMIM:618845 |
| Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... |
ORPHA:1263 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Progressive distal muscle weakness, Increased variability in muscl... |
ORPHA:488650 |
| Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Hepatomegaly, Corneal... |
ORPHA:61 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, White... |
ORPHA:2779 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot |
DECIPHER:46 |
| Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
| Myopathy, Distal, 3 |
|
Distal muscle weakness, Split hand, Distal amyotrophy, Muscular dystrophy, Late-onset proximal mu... |
OMIM:610099 |
| Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Genu recurvatum, Single transverse palmar crease, C... |
ORPHA:915 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Proximal muscle weakness, Muscle fiber cytoplasmatic inclusion bodies, Mus... |
OMIM:609524 |
| X-Linked Centronuclear Myopathy |
|
Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Fatigable weakness of... |
ORPHA:596 |
| Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... |
ORPHA:50809 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
| Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal morphology of ulna, Delayed skeletal maturation, Nephrolithiasis, Abnormal fibula morpho... |
ORPHA:1837 |
| Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexion cont... |
OMIM:256030 |
| Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Dyst... |
ORPHA:309169 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Poor head control, Facial palsy, Ophthalmoplegia, Flexion contracture, K... |
OMIM:616313 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
| Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Gowers sign, Increased variability in muscle fiber diameter, Proximal mu... |
OMIM:611615 |
| Triphalangeal Thumbs With Brachyectrodactyly |
|
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly |
OMIM:190680 |
| Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Li... |
OMIM:616812 |
| Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Distal muscle weakness, Short stature, Abnormal muscle f... |
ORPHA:598 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Congenital hip dislocation, Elevated circulating creatine kinase concentration, Limited elbow mov... |
OMIM:300280 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Fatty replacement of s... |
OMIM:608807 |
| Myopathy, Tubular Aggregate, 1 |
|
Proximal muscle weakness, External ophthalmoplegia, Flexion contracture, Type 2 muscle fiber atro... |
OMIM:160565 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Peripheral opacification of the cornea, Micrognathia, Hypoplasia of the maxilla, Meta... |
OMIM:259600 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Micrognathia, Accelerated skeletal maturation, Abnormal hand morphology, Metap... |
ORPHA:93307 |
| Amyotrophic Lateral Sclerosis 21 |
|
Bulbar palsy, Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Hand muscle wea... |
OMIM:606070 |
| 15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Elbow disl... |
OMIM:171480 |
| Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Micrognathia, Tapered finger, Easily subluxated first metacarpophalangeal joints, Clinodactyly of... |
OMIM:311895 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Proximal muscle weakness, Gowers sign, Myopathy, Limb-girdle muscular dystrophy, Increased variab... |
OMIM:612937 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... |
ORPHA:399086 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Phocomelia, Clinodactyly of the 5th finger, Genu varum, Finger syndactyly, Fused ce... |
ORPHA:3320 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Hammertoe, Talipes equino... |
OMIM:608340 |
| Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Distal muscle weakness, Facial palsy, ... |
OMIM:160500 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Tremor, Ragged-red muscle fibers, Increased intramuscula... |
ORPHA:276435 |
| Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Spatulate ribs, Metaphyseal widening, Delayed epiphyseal ... |
OMIM:177170 |
| Aurocephalosyndactyly |
|
4-5 toe syndactyly |
OMIM:109050 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Corneal opacity, Increased intervertebral space, Thoracic p... |
OMIM:618961 |
| Harel-Yoon Syndrome |
|
Mandibular prognathia, Peripheral axonal neuropathy, Corneal opacity, Ataxia, Micrognathia, Inabi... |
OMIM:617183 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Oligodactyly |
ORPHA:2440 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Split hand, Toe syndactyly, Split foot |
OMIM:183700 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Retinal detachment, Crumpled long bones, Joint laxity, Corneal opacity, Waddling gait... |
ORPHA:2788 |
| Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
| Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Tremor, Ophthalmoplegia, Increased variability in mu... |
OMIM:619473 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Cataract, Camptodactyly of finger, Micromelia, Abnormal ... |
ORPHA:2635 |
| Feingold Syndrome Type 2 |
|
Short thumb, Toe syndactyly, Short middle phalanx of finger, Brachydactyly |
ORPHA:391646 |
| Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy |
|
Optic disc pallor, Hammertoe, Optic atrophy, Claw hand deformity |
OMIM:618511 |
| Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, General... |
ORPHA:2790 |
| Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... |
OMIM:253000 |
| Alagille Syndrome |
|
Corneal dystrophy, Micrognathia, Abnormal pupil morphology, Abnormal form of the vertebral bodies... |
ORPHA:52 |
| Myopathy, Myofibrillar, 2 |
|
Distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle muscle weak... |
OMIM:608810 |
| Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le... |
OMIM:249710 |
| Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Gowers sign, Achilles tendon contracture, Generalized muscle hypertrophy, Diaphragm... |
OMIM:604801 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Generalized muscle weakne... |
ORPHA:34516 |
| Myasthenic Syndrome, Congenital, 12 |
|
Facial palsy, Proximal muscle weakness, Gowers sign, Ragged-red muscle fibers, Proximal amyotroph... |
OMIM:610542 |
| Camurati-Engelmann Disease |
|
Anorexia, Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morph... |
ORPHA:1328 |
| Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
| Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Abnormal thorax morphology, Small hand, Narrow palm, Abnorm... |
ORPHA:1445 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol... |
ORPHA:166011 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... |
OMIM:609655 |
| Oculopharyngodistal Myopathy 4 |
|
Distal muscle weakness, Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscl... |
OMIM:619790 |
| Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... |
OMIM:271630 |
| Distal Nebulin Myopathy |
|
Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac... |
ORPHA:399103 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Aplasia of the thymus, Short neck, Kyphosis, Hemivertebrae, Double outlet right ventricle, Low an... |
OMIM:618223 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Proximal muscle ... |
OMIM:617069 |
| Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Microcornea, Vertebral segmentation defect, Triphalangeal thumb, Chorioret... |
ORPHA:959 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Reduced bone mineral density, Iron defici... |
ORPHA:93315 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Dystonia,... |
OMIM:167320 |
| 22Q11.2 Deletion Syndrome |
|
Micrognathia, Short neck, Hypoplasia of the thymus, Hypocalcemia, Atrial septal defect, Vesicoure... |
ORPHA:567 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Cataract, Rhizomelia, Ventricular septal ... |
ORPHA:93267 |
| Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Single transverse palmar crease, Abnormal ... |
ORPHA:2332 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
| Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del... |
ORPHA:85198 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Proximal muscle weakness, Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy,... |
OMIM:616924 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Ventricular septal defect, Optic nerve hypoplasia, Truncus arteri... |
OMIM:615583 |
| Keratoconus Posticus Circumscriptus |
|
Keratoconus, Limited elbow extension and supination, Short neck, Vesicoureteral reflux, Clinodact... |
OMIM:244600 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elb... |
ORPHA:2633 |
| Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... |
OMIM:186570 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Renal cyst, Vertebral segmentation defect, Clinodactyly ... |
OMIM:272460 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Neck flexor... |
OMIM:618138 |
| Scheie Syndrome |
|
Mandibular prognathia, Aortic regurgitation, Corneal opacity, Short neck, Genu valgum, Aortic val... |
OMIM:607016 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of... |
ORPHA:957 |
| Jeune Syndrome |
|
Abnormal clavicle morphology, Abnormality of retinal pigmentation, Toe syndactyly, Renal insuffic... |
ORPHA:474 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Proximal muscle weakness, Muscular dystrophy, Increased variability in m... |
OMIM:253601 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Conductive hear... |
OMIM:311300 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated circulating creatine kinase concentration, Abnormal left ventricular function, Leukopeni... |
OMIM:301056 |
| Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Inability to walk, Optic atrophy, Overlapping toe |
OMIM:618572 |
| Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and... |
ORPHA:90652 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Short stature, Centrally nucleated skeletal muscle fibers, Progressive muscle weakness, Skeletal ... |
OMIM:619518 |
| Congenital Myopathy 23 |
|
Skeletal muscle atrophy, Scapular winging, Gowers sign, Flexion contracture, Facial diplegia, Nec... |
OMIM:609285 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... |
OMIM:606895 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Metaphyseal widening, Delayed ep... |
ORPHA:93314 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Short neck, Palmoplantar keratoderma, Limbal stem cell deficiency, Nail dystrophy, Finger joint h... |
OMIM:615225 |
| Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Accelerate... |
ORPHA:1354 |
| Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... |
OMIM:305620 |
| Adams-Oliver Syndrome 3 |
|
Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho... |
OMIM:614814 |
| Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
| Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Microgn... |
ORPHA:628 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... |
ORPHA:2911 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypop... |
ORPHA:496790 |
| Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Talipes cavus equin... |
ORPHA:59135 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... |
ORPHA:2141 |
| Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, External oph... |
ORPHA:169189 |
| 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 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Rhizomelia, Hypospadias, Sclerocornea, 2-3 toe syndactyly, Microcornea, Ectopia pupilla... |
OMIM:615877 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... |
OMIM:228900 |
| Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Paroxysmal atrial fibrillation, First degree atrioventricular block... |
ORPHA:392 |
| Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Cataract, Arachnodactyly, Palmar pits, Carious teeth, He... |
ORPHA:377 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... |
ORPHA:1275 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Low p... |
ORPHA:2345 |
| Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Polyhydramnios, Fetal ascites, Squared iliac bones, Flared metaphysis, ... |
OMIM:215045 |
| Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Increased serum beta-hexosaminidase, Abnormality of the hand, Short neck, F... |
OMIM:252605 |
| Gm1 Gangliosidosis |
|
Mandibular prognathia, Abnormal form of the vertebral bodies, Cherry red spot of the macula, Gene... |
ORPHA:354 |
| Acrorenal Syndrome |
|
Renal insufficiency, Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split ... |
ORPHA:971 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal shoulder morp... |
OMIM:274000 |
| Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Scapular winging, Short stature, Paraspinal muscle hypertrophy, Congenital foot ... |
OMIM:602484 |
| King-Denborough Syndrome |
|
Short stature, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Type 1 muscl... |
OMIM:619542 |
| Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Rhizomelia, Anterior rib cupping, Rod-cone dystrophy, Proximal femoral m... |
OMIM:602271 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Proximal muscle weakness, Prog... |
OMIM:611588 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
| Diaphanospondylodysostosis |
|
Missing ribs, Short neck, Short thorax, Narrow pelvis bone, Enlarged thorax, Multiple renal cysts... |
ORPHA:66637 |
| Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co... |
ORPHA:249 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Progressive external ophthalmoplegia, Facial palsy, Ragged-red muscle fibers, Generalized muscle ... |
OMIM:609283 |
| Gordon Syndrome |
|
Finger syndactyly, Decreased muscle mass, Short stature, Camptodactyly of finger, Clinodactyly of... |
ORPHA:376 |
| Juberg-Hayward Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormal toe morphology, Abnormal carpal morphology, Limited elb... |
OMIM:216100 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Bulbar palsy, Facial palsy, Gowers sign, Flexion contracture, Shoulder girdle muscle weakness, Mu... |
OMIM:603511 |
| Eiken Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex, Abnormal acetabulum morphology, Epiphyseal... |
ORPHA:79106 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
| Ectrodactyly-Polydactyly |
|
Split hand, Postaxial hand polydactyly, Split foot |
OMIM:225290 |
| Seckel Syndrome 7 |
|
Abnormal carpal morphology, Madelung deformity, Primary amenorrhea, Hip dysplasia, Microtia, Clin... |
OMIM:614851 |
| Isolated Osteopoikilosis |
|
Bone pain, Abnormal femur morphology, Abnormal long bone morphology, Abnormal bone ossification, ... |
ORPHA:166119 |
| 49,Xyyyy Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of the epiphyses of the elbow, Decreased testicula... |
ORPHA:99330 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
| Congenital Myopathy 10A, Severe Variant |
|
Poor head control, Facial palsy, Camptodactyly of finger, Diaphragmatic paralysis, Increased vari... |
OMIM:614399 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Enlarged joints, Pectus excavatum, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndac... |
ORPHA:166024 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, Axial ... |
ORPHA:98905 |
| Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, External ophthalmo... |
OMIM:620351 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Alopecia, Short thorax, Osteolysis involving bones of the upper limbs, Flexion contra... |
ORPHA:88630 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Abnormal hair morphology, Cone-shaped epip... |
OMIM:250460 |
| Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr... |
OMIM:105835 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... |
OMIM:616052 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac... |
ORPHA:536471 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Waddling gait, Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthr... |
OMIM:602111 |
| Ventriculomegaly And Arthrogryposis |
|
Hand clenching, Ulnar deviation of the wrist, Talipes equinovarus, Micrognathia |
OMIM:619501 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615269 |
| 2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Short neck, Abnormal tibia morphology, Synophrys, Low anterior hairline, Vertebral ... |
ORPHA:251014 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Narrow greater sciatic notch, Hyp... |
OMIM:608940 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
| Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha... |
ORPHA:370010 |
| Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Jaw swelling, Camptodactyly of finger, Optic atrophy, Gait ataxia, Inappropriate laughter, Flexio... |
OMIM:619323 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Proximal muscle weakness, Gowers sign, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Musc... |
OMIM:613157 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Micrognathia, Short neck, Gener... |
ORPHA:508498 |
| Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Atrial septal defect, Sp... |
OMIM:150250 |
| Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:98902 |
| Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Tremor, Progressive muscle weakness, Proximal amyo... |
OMIM:605355 |
| Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:253290 |
| Miyoshi Muscular Dystrophy 1 |
|
Distal muscle weakness, Distal amyotrophy, Muscular dystrophy, Lower limb muscle weakness, Deposi... |
OMIM:254130 |
| Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pe... |
OMIM:223800 |
| Congenital Myopathy 10B, Mild Variant |
|
Neck flexor weakness, Elbow contracture, Proximal muscle weakness, Fatty replacement of skeletal ... |
OMIM:620249 |
| Melnick-Needles Syndrome |
|
Micrognathia, Narrow chest, Vesicoureteral reflux, Anisospondyly, Short thorax, Abnormal rib morp... |
ORPHA:2484 |
| Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short... |
OMIM:201000 |
| Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Gowers sign, Achilles tend... |
ORPHA:353 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal hair quantity, Abnormal morphology of ulna, Short neck, Mitral valve prolapse, Low poste... |
ORPHA:2233 |
| Adult-Onset Nemaline Myopathy |
|
Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, Incr... |
ORPHA:171442 |
| Acrodysostosis |
|
Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu... |
ORPHA:950 |
| Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... |
ORPHA:210110 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... |
OMIM:143095 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Poor head control, Nemaline bodies, Generalized muscle weakness, Increased variability in muscle ... |
OMIM:620265 |
| Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:312150 |
| Wt Limb-Blood Syndrome |
|
Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Hypopla... |
OMIM:194350 |
| Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Optic atrophy, Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c... |
OMIM:178110 |
| Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Pectus carinatu... |
OMIM:253220 |
| Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Asplenia, Abnormal pupil morp... |
ORPHA:261552 |
| Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Ventricular septal defect, Corneal o... |
ORPHA:290 |
| Mucopolysaccharidosis Type 1 |
|
Joint dislocation, Sinusitis, Low anterior hairline, Abnormal form of the vertebral bodies, Enlar... |
ORPHA:579 |
| Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology |
OMIM:259270 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
1-5 finger complete cutaneous syndactyly |
ORPHA:2266 |
| Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh... |
OMIM:300106 |
| Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short neck, Hemivertebrae, Nephrocalcinosis, Short palm, Thoracic hemivertebrae, Mi... |
OMIM:268310 |
| Hurler Syndrome |
|
Short neck, Metaphyseal widening, Flexion contracture, Endocardial fibroelastosis, Retinal degene... |
OMIM:607014 |
| Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Short stature, Facial palsy, Respiratory insufficiency due to muscle weakness, Myopathy, Type 1 f... |
OMIM:300580 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, ST segment elevation, Ventricular tachycardia, Ventricular septal hypert... |
ORPHA:263297 |
| Lamb-Shaffer Syndrome |
|
Overlapping toe, Long fingers, Vertebral clefting, Optic atrophy, Pectus carinatum, Scoliosis, Cl... |
OMIM:616803 |
| Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Vesicoureteral reflux, Abnormal digit morphology, Syndactyly, Finger syndactyly, In... |
ORPHA:2363 |
| Ring Chromosome 4 Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
| Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Micrognathia, Abnormal cortical bone morphology, Abn... |
ORPHA:2097 |
| Kid Syndrome |
|
Sparse eyelashes, Coxa valga, Equinus calcaneus, Scarring alopecia of scalp, Sparse eyebrow, Kera... |
ORPHA:477 |
| Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Palmar pits, Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, ... |
OMIM:109400 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
| Galactosialidosis |
|
Cherry red spot of the macula, Abnormality of the vertebral column, Abnormal vertebral morphology... |
ORPHA:351 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han... |
OMIM:164900 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Hand muscle atrophy, Intermittent episodes of respiratory insufficiency due to muscle weakness, O... |
OMIM:601462 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Enlarged epiphyses, Irregularity of vertebral bodies, Abnormal circulating C-reactive protein con... |
ORPHA:1159 |
| Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Low anterior ha... |
OMIM:212720 |
| Isolated Ectopia Lentis |
|
Mandibular prognathia, Cataract, Ectopia lentis, Joint stiffness, Hypertension, Ectopia pupillae,... |
ORPHA:1885 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Retinal detachment, Abnormal hip joint morphology, Broad hallux, Ovoid ve... |
ORPHA:1856 |
| Sclerosteosis |
|
Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, Facial palsy, 2-3 f... |
ORPHA:3152 |
| Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Distal muscle weakness, Glycogen accumulation in muscle fiber lysosomes,... |
OMIM:300559 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Bull's eye maculopathy, Micrognathia, Hypoplasia of the ... |
OMIM:213980 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Increas... |
OMIM:500009 |
| Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Ophthalmoplegia, Ragged-red muscle fibers, Myopathy, Rimmed vac... |
ORPHA:270 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Short neck, Metaphyseal widening, Synophrys, Low anterior hairline, Flexion contracture, Pectus c... |
OMIM:617303 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Postaxial hand polydactyly, Pate... |
ORPHA:65759 |
| Duane-Radial Ray Syndrome |
|
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial se... |
OMIM:607323 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Micromelia, Cardiomegaly, Wide distal femoral metaphysis, Short neck, Dela... |
OMIM:613320 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Proximal muscle weakness, Proximal amyotrophy, Muscular dystrophy, Neck ... |
OMIM:614302 |
| Hurler Syndrome |
|
Abnormal clavicle morphology, Short neck, Endocardial fibroelastosis, Abnormal nerve conduction v... |
ORPHA:93473 |
| Atelosteogenesis, Type I |
|
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Verteb... |
OMIM:108720 |
| Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Abnormal tho... |
OMIM:269920 |
| Mulibrey Nanism |
|
Hepatomegaly, Single transverse palmar crease, Corneal dystrophy, Cardiomegaly, Absent frontal si... |
OMIM:253250 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Cardiomegaly, Synophrys, Flexion contracture, Atrioventricular bloc... |
ORPHA:581 |
| Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Central heterochromia, Optic disc hypoplasia, Micrognathia, Ecto... |
ORPHA:233 |
| Developmental And Epileptic Encephalopathy 36 |
|
Microretrognathia, Hepatomegaly, Flexion contracture, Optic atrophy, Small hand, Scoliosis, Self-... |
OMIM:300884 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Facial palsy, Elevated circulating creatine kinase concentration, Hyperlordosis... |
OMIM:606612 |
| Koolen-De Vries Syndrome |
|
Ureteral duplication, Vertebral fusion, Hypopigmentation of hair, Bicuspid aortic valve, Arachnod... |
ORPHA:96169 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Poor head control, Distal muscle weakness, Facial palsy, Proximal muscle weakne... |
ORPHA:353327 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Heart block, Metaphyseal chondrodysplasia, Accelerated skeletal maturatio... |
ORPHA:175 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Brittle hair, Increased serum beta-hexosaminidase, Cardiomegaly, Micrognathia, Metaph... |
OMIM:252500 |
| Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Congestive heart failure, Thrombocytopenia, Dysphagia, Short long bone,... |
OMIM:619751 |
| Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal ti... |
ORPHA:666 |
| Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla, Sensorineural hearing impairment, Genu valgum, Slender long bones with... |
OMIM:608154 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Beaded ribs, Cardiomegaly, Micrognathia, Short neck, Flexion contracture, Multiple pr... |
OMIM:616897 |
| Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Lumbar h... |
OMIM:256050 |
| Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Incr... |
OMIM:252600 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Micrognathia, Optic atrophy, Fused cervical vertebrae, Hip dysplasia, Thor... |
ORPHA:530983 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Li... |
ORPHA:2334 |
| Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Thoracic scoliosis, Accelerated skeletal maturation, Synophrys, Short meta... |
OMIM:619636 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Proximal muscle weakness, Respiratory insufficienc... |
ORPHA:424107 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Papilledema, Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis... |
OMIM:122860 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
| Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
| Short Syndrome |
|
Alopecia, Posterior embryotoxon, Corneal opacity, Abnormal dental enamel morphology, Abnormal zyg... |
ORPHA:3163 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Preaxial hand polydact... |
ORPHA:380 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di... |
OMIM:603546 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hypospadias, Micrognathia, Pectus excavatum, Malar prominence, Shor... |
ORPHA:2522 |
| Kniest Dysplasia |
|
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varu... |
OMIM:156550 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Delayed ossification of carpal bones, Irregular acetab... |
OMIM:617974 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Proximal m... |
OMIM:617070 |
| Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Vesicoureteral reflux, Prominent fingertip pads, Iri... |
OMIM:610443 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Thoracic scoliosis, Swan neck-like deformities of the fingers, Broad-based gait, C... |
OMIM:616716 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Posteriorly rotated ears, Delayed ossification of carpal bones, Short femoral neck, Macrotia, Bra... |
OMIM:618392 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notc... |
OMIM:608728 |
| Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ili... |
ORPHA:1452 |
| Congenital Myopathy 15 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... |
OMIM:620161 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness |
OMIM:159050 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Increased bone mineral density, Sandwich appearance of vertebral bodies, Femur frac... |
OMIM:259700 |
| Thoracomelic Dysplasia |
|
Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Bell-shape... |
ORPHA:1803 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Gowers sign, Flexion contracture, Muscle ... |
OMIM:253700 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... |
OMIM:250220 |
| Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Abnormal sacrum morphology, Long penis, Rib fusion, Abnormal rib morph... |
ORPHA:1988 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral bowing, Metaphyseal cuppin... |
OMIM:156500 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... |
OMIM:613954 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Micrognathia, Hypoplasia of the maxilla, Microcornea, Persistent pupillary membrane, Sparse hair,... |
OMIM:257850 |
| Mietens Syndrome |
|
Hypoplasia of the ulna, Cataract, Corneal opacity, Sclerocornea, Coxa valga, Elbow dislocation, M... |
ORPHA:2557 |
| Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
| Sialidosis Type 2 |
|
Hepatomegaly, Corneal opacity, Ataxia, Splenomegaly, Kyphosis, Short thorax, Osteoporosis, Flexio... |
ORPHA:87876 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Flexion contracture, Low anterior hairline, Coxa vara, Metaphys... |
OMIM:300232 |
| Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Respiratory insufficiency due to muscle weakness, Fatigable weakness of bulbar ... |
ORPHA:171439 |
| Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Progressive distal muscle weakness, Progressive muscle weakness, Progressive... |
OMIM:609452 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Thrombocytopenia, Bone pain, Hypocholester... |
OMIM:610539 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Generalized muscle weakness, Increased variability in muscle fiber diameter |
ORPHA:238329 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... |
OMIM:617087 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification... |
OMIM:300244 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Bicuspid aortic valve, Cardiomegaly, Micrognathia, Short neck, Accelerated skeletal m... |
OMIM:245600 |
| Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial... |
ORPHA:1427 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Knee flexion contract... |
OMIM:265000 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Dela... |
OMIM:132400 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Short stature, Facial palsy, Proximal muscle weakness, Achilles tendon contracture, Elbow flexion... |
OMIM:608840 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... |
OMIM:271700 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Vertebral fusion, Elevated circulating creatine kinase concentration, Exercise-ind... |
OMIM:607155 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral e... |
OMIM:271640 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... |
OMIM:184252 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Hearing impairment, Micrognathia, Recurrent patellar dislocation, Capitate-hama... |
OMIM:614078 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Hip contracture, Microretrognathia, Hearing impairment, Coxa valga, Microg... |
OMIM:618363 |
| Heyn-Sproul-Jackson Syndrome |
|
Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals |
OMIM:618724 |
| Charlie M Syndrome |
|
Finger syndactyly, Micrognathia, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology,... |
ORPHA:1406 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... |
OMIM:610017 |
| Summitt Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgu... |
ORPHA:3210 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Abnormal dental enamel morphology, Elbow dislocation, Ky... |
ORPHA:2916 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Skeletal muscle atrophy, Syndactyly, Ophthalmoplegia, Upper limb muscle weakness, Distal lower li... |
OMIM:615284 |
| Autosomal Recessive Spastic Paraplegia Type 45 |
|
Ankle flexion contracture, Optic atrophy, Knee flexion contracture, Flexion contracture of toe, S... |
ORPHA:320396 |
| Rippling Muscle Disease 2 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Gowers sign, Proximal muscle weakness |
OMIM:606072 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Narrow palm, Small hand, Short foot, Abnormal ulnar metaphysis morpholo... |
ORPHA:177910 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Distal muscle weakness, Diaphragmatic paralysis, Craniofacial dystonia, ... |
OMIM:620011 |
| Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Hypoplastic iliac wing, Atrial sept... |
OMIM:139210 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Short neck, Metaphyseal widening, Narrow chest, Erlenmeyer f... |
OMIM:239850 |
| Focal Dermal Hypoplasia |
|
Acute hepatic failure, Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Chorioretinal col... |
ORPHA:2092 |
| Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Hepatomegaly, Prominent metopic ridge, Micromelia, Abnormal thum... |
ORPHA:1597 |
| Monosomy 5P |
|
Microretrognathia, Finger syndactyly, Recurrent fractures, Short neck, Small hand, Joint hyperfle... |
ORPHA:281 |
| Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Facial palsy, Recurrent fracture... |
ORPHA:53 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Chorioretinal dysplasia, Hypoammonemia, Micrognathia, Abnormal pupil morph... |
ORPHA:534 |
| Muscle Filaminopathy |
|
Scapular winging, Neck flexor weakness, Fatty replacement of skeletal muscle, Abnormality of mast... |
ORPHA:171445 |
| Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
| Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Polyhydramnios, Edema, Short long bone, Flared elbow metaphyses, Limb u... |
ORPHA:1423 |
| Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
| Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the... |
ORPHA:429 |
| Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
| Incontinentia Pigmenti |
|
Abnormal hand morphology, Uveitis, Spina bifida occulta, Finger syndactyly, Alopecia, Abnormal ch... |
ORPHA:464 |
| Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Mandibular prognathia, Thickened ribs, Short neck, Pectus carinatum, Oligosaccharidur... |
ORPHA:309282 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract... |
OMIM:259710 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Ragged-red muscle fibe... |
OMIM:300816 |
| Central Core Disease |
|
Multiple joint contractures, Congenital hip dislocation, Respiratory insufficiency due to muscle ... |
ORPHA:597 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Abnormal mo... |
ORPHA:1307 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Distal muscle we... |
OMIM:607459 |
| Jackson-Weiss Syndrome |
|
Broad hallux, Calcaneonavicular fusion, Craniosynostosis, Hallux varus, Broad first metatarsal, 2... |
OMIM:123150 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
| Symphalangism, Proximal, 1A |
|
Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... |
OMIM:185800 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Syndactyly, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosyno... |
OMIM:619451 |
| Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Palmoplantar hyperkerato... |
OMIM:601812 |
| Cenani-Lenz Syndrome |
|
Micromelia, Abnormal form of the vertebral bodies, Foot oligodactyly, Synostosis of carpal bones,... |
ORPHA:3258 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Waddling gait, Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum,... |
OMIM:271650 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Thoracic scoliosis, Cataract, Macular atrophy, Micrognathia, Optic atrophy, Mi... |
OMIM:616171 |
| Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Mandibular prognathia, Calcium oxalate nephrolithiasis, Optic atrophy, Depression, Genu valgum, P... |
OMIM:248000 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Micrognathia, Hypocalcemia, Hepatomegaly, Increased bone mineral de... |
OMIM:259720 |
| Schimke Immuno-Osseous Dysplasia |
|
Short neck, Neutropenia, Nephropathy, Nephrotic range proteinuria, Lumbar hyperlordosis, Minimal ... |
ORPHA:1830 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing... |
OMIM:264700 |
| Distal Myotilinopathy |
|
Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak... |
ORPHA:98911 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f... |
ORPHA:363417 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
| Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Hepatomegaly, Abnormal EKG, Cataract, Corneal opacity, Ataxia, Optic atr... |
ORPHA:93400 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral axonal neuropathy, Elevated circulating creatine kinase concentration, Decreased nerve... |
ORPHA:101082 |
| Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Pectus excavatum, Ectopic kidney,... |
OMIM:212780 |
| Trisomy 9P |
|
Sacral dimple, Bilateral single transverse palmar creases, Short neck, Kyphosis, Abnormal pupil m... |
ORPHA:236 |
| Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Megalocorne... |
OMIM:228520 |
| Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Micromelia, Micrognathia, Short neck, Low ant... |
ORPHA:800 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Optic atrophy, Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal phalanx of finge... |
ORPHA:2787 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Slow-growing ha... |
ORPHA:3082 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Atrial septal defect, Short tibia... |
OMIM:620076 |
| Epiphyseal Dysplasia, Baumann Type |
|
Carpal bone aplasia, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long fingers, Aplasia ... |
OMIM:610797 |
| Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
| Schimke Immunoosseous Dysplasia |
|
Osteopenia, Short neck, Abnormal T cell morphology, Coarse hair, Thoracic kyphosis, Lateral displ... |
OMIM:242900 |
| Juberg-Hayward Syndrome |
|
Abnormal eyebrow morphology, Toe syndactyly, Hypospadias, Highly arched eyebrow, Short thumb, Hyp... |
ORPHA:2319 |
| Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... |
OMIM:617114 |
| Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Alop... |
OMIM:135100 |
| Weaver Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Sandal gap, Camptodactyly of finger, Micrognathia, Accele... |
ORPHA:3447 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... |
OMIM:210720 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing... |
OMIM:277440 |
| Cantú Syndrome |
|
Cardiomegaly, Short neck, Accelerated skeletal maturation, Low anterior hairline, Narrow chest, B... |
ORPHA:1517 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Coxa valga, Osteoporosis, Abnormal fundus morphology, Finger clinodactyly, Patellar subluxation, ... |
ORPHA:2958 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Short stature, Increased intramyocellular lipid d... |
OMIM:619065 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Decreased circulating plasmalogen concentration, Cataract, Rhizomelia,... |
OMIM:222765 |
| Desbuquois Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Genu recurvatum, Coxa valga, Elbow dislocatio... |
ORPHA:1425 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra... |
OMIM:224300 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Epiphyseal dysplasia, Abnormal metatarsal morphology, Hip subluxation, Flat capital femoral epiph... |
ORPHA:93360 |
| Myofibrillar Myopathy 10 |
|
Mandibular prognathia, Sandal gap, Elevated circulating creatine kinase concentration, Ankle flex... |
OMIM:619040 |
| Glycogen Storage Disease Xv |
|
Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par... |
OMIM:613507 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Proximal musc... |
OMIM:254090 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Short neck, Verteb... |
OMIM:611209 |
| Mucopolysaccharidosis Type 7 |
|
Anterior beaking of lower thoracic vertebrae, Corneal opacity, Short neck, Metatarsus adductus, S... |
ORPHA:584 |
| Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat... |
OMIM:108721 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog... |
ORPHA:1836 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
| Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Metaphyseal widening, Osteopathia striata, Delay... |
ORPHA:93357 |
| Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Impulsivity, Missing ribs, Ectopic kidney, Joint stiff... |
ORPHA:3027 |
| Typical Nemaline Myopathy |
|
Neck flexor weakness, Facial palsy, Fatigable weakness of distal limb muscles, Fatiguable weaknes... |
ORPHA:171436 |
| Noonan Syndrome 12 |
|
11 pairs of ribs, Lymphopenia, Ventricular septal defect, Proximal placement of thumb, Pectus exc... |
OMIM:618624 |
| Banki Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... |
ORPHA:1228 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers, Muscle weakness |
OMIM:545000 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, Flexion contracture, Increased... |
OMIM:607855 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing... |
OMIM:600081 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hallux valgus, Osteopenia, Thoracic scoliosis, Generalized joint laxity, Micrognathia, Short neck... |
OMIM:618000 |
| Congenital Myopathy 24 |
|
Scapular winging, Facial palsy, Gowers sign, Talipes equinovarus, Type 1 muscle fiber predominanc... |
OMIM:617336 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Vertebral segmentation defe... |
ORPHA:2631 |
| Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Bun... |
ORPHA:373 |
| Oculodentodigital Dysplasia |
|
Mandibular prognathia, Abnormal clavicle morphology, Brittle hair, Micrognathia, Abnormal form of... |
ORPHA:2710 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... |
ORPHA:370968 |
| Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Sclerocornea, Micrognathia, Lateral clavicle hook, Hypoplasia of the ma... |
OMIM:600920 |
| Shwachman-Diamond Syndrome 1 |
|
Metaphyseal chondrodysplasia, Metaphyseal widening, Proximal femoral metaphyseal irregularity, Co... |
OMIM:260400 |
| Trisomy 13 |
|
Narrow chest, Atrial septal defect, Iris coloboma, Bilateral single transverse palmar creases, Ab... |
ORPHA:3378 |
| Poland Syndrome |
|
Unilateral absence of pectoralis major muscle, Syndactyly, Unilateral oligodactyly, Unilateral hy... |
OMIM:173800 |
| Marinesco-Sjögren Syndrome |
|
Cataract, Ataxia, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal finge... |
ORPHA:559 |
| Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle weakness, Rimm... |
ORPHA:263494 |
| Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Optic nerve hypoplasia, Absent thumb, Short neck, Short thumb, Patent ... |
OMIM:609053 |
| Moebius Syndrome |
|
Syndactyly, Brachydactyly, Micrognathia, Short neck, Split hand, Dysphagia, Micropenis, Facial di... |
OMIM:157900 |
| Recessive Mitochondrial Ataxia Syndrome |
|
Increased serum pyruvate, Ataxia, ST segment elevation, Dysmetria, Gait disturbance, Dysphagia, S... |
ORPHA:94125 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Cataract, Corneal opacity, Tapered finger, Abnormal hair morphology, Patchy palmoplanta... |
ORPHA:317 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Short neck, Thrombocytopenia, Abnormal form of the vertebral bodies, Abnorma... |
ORPHA:3319 |
| Babesiosis |
|
Hepatomegaly, Renal insufficiency, Hemolytic anemia, Myocardial infarction, Anorexia, Splenomegal... |
ORPHA:108 |
| Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Neutropenia, Clinodactyly of the ... |
ORPHA:193 |
| Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis... |
ORPHA:1515 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Short neck, Pectus carinatum, Abnormal calcificatio... |
OMIM:271665 |
| 3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... |
ORPHA:2616 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Cataract, Delayed skeletal maturation, Abnormal rib morphology, Abnormal epiphysis morphology, Ne... |
ORPHA:2643 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Progressive cerebellar ataxia, Corneal opacity, Corneal dystrophy, Ataxia |
ORPHA:3177 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Missing ribs, Postaxial polydactyly, ... |
OMIM:617866 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Micromelia, Micrognathia, Short neck, Asplenia, Hemivertebrae, Finger clinod... |
ORPHA:99776 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... |
ORPHA:457395 |
| Acromicric Dysplasia |
|
Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Short palm, Fifth metacarpa... |
OMIM:102370 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Interphalangeal joint contractu... |
ORPHA:1145 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Extramedullary hematopoiesis, Megalocornea, Hypoplastic ischia, Bowing o... |
ORPHA:313855 |
| Cousin Syndrome |
|
Micrognathia, Short neck, Prominent protruding coccyx, Low anterior hairline, Microcornea, Hypopl... |
OMIM:260660 |
| Merrf |
|
Myopathy, Ragged-red muscle fibers, Short stature |
ORPHA:551 |
| Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
| Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib... |
OMIM:616503 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed... |
OMIM:241530 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Persistent pupillary membrane, Woolly sca... |
ORPHA:79414 |
| Farber Disease |
|
Intrahepatic cholestasis with episodic jaundice, Flexion contracture, Macular degeneration, Abnor... |
ORPHA:333 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand |
OMIM:603543 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Progressive muscle weakness... |
OMIM:620285 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Tapered finger, Short neck, Multiple joint dislocation, Hip... |
OMIM:618395 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Neck flexor weakness, Facial palsy, Triceps weakness, Ankle weakness, We... |
ORPHA:98913 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Corneal opacity, Abnormal morp... |
ORPHA:570 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... |
OMIM:151210 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Polyhydramnios, Micrognathia, Wrist swelling, Slender long bone, Metacar... |
ORPHA:2774 |
| Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Ventricular septal defec... |
ORPHA:1458 |
| 2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Cataract, Camptodactyly of finger, Short neck, Long fingers, Bullet-shaped distal... |
ORPHA:1617 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi... |
OMIM:313400 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Atrichia, Atrial septal defect, Dystrophic fingernails, Absent eyebrow, Multicystic kidney dyspla... |
OMIM:308205 |
| Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,... |
OMIM:251450 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morphology, Aggressive beh... |
ORPHA:208441 |
| Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Single transverse palmar crease, Micrognathia, Short neck, Femoral bowing, Tibia... |
OMIM:601559 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Arthropathy, Bicuspid aortic valve, Abnormal hand morphology, Osteolysis involving bo... |
ORPHA:371428 |
| Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Corneal opacity, Sclerocornea, Microg... |
OMIM:609465 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ... |
ORPHA:2251 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Micrognathia, Short neck, Abnormality of the elbow, Abnormal rib morphology,... |
ORPHA:1486 |
| Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Patchy variation in bone minera... |
OMIM:215140 |
| Hypomelanosis Of Ito |
|
Syndactyly, Alopecia, Cataract, Kyphosis, Hand polydactyly, Scoliosis, Radial deviation of finger... |
OMIM:300337 |
| Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Hyperextensibility at elbow, Recurrent fract... |
OMIM:610967 |
| Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Posteriorly rotated ears, Micrognathia, Carious teeth, Talon cusp, Dent... |
OMIM:613684 |
| Cofs Syndrome |
|
Abnormality of retinal pigmentation, Prominent metopic ridge, Cataract, Camptodactyly of finger, ... |
ORPHA:1466 |
| Fibrochondrogenesis 2 |
|
Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti... |
OMIM:614524 |
| Cardiofaciocutaneous Syndrome |
|
Brittle hair, Short neck, Sparse hair, Atrial septal defect, Dystrophic fingernails, Abnormal mor... |
ORPHA:1340 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Lateral clavicle hook, Conjugated hyperbilirubinemia, Early ossification of capital femoral epiph... |
OMIM:208500 |
| Yoon-Bellen Neurodevelopmental Syndrome |
|
Ataxia, Inability to walk, Optic atrophy, Hip dysplasia, Scoliosis |
OMIM:619701 |
| Hypophosphatasia |
|
Bowing of the long bones, Hypercalcemia, Craniosynostosis, Recurrent fractures, Abnormal rib morp... |
ORPHA:436 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Cataract, Eosinophilia, Cor pulmonale, Keratoconjunctivitis, Hematuria, Melena, Coarse ... |
OMIM:158310 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Hand muscle atrophy, Hand muscle weakness, Decreased nerve conduction velocity, Inability to walk... |
ORPHA:90658 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... |
OMIM:184250 |
| Hurler-Scheie Syndrome |
|
Aortic regurgitation, Hepatomegaly, Corneal opacity, Camptodactyly of finger, Thenar muscle atrop... |
OMIM:607015 |
| Kyphomelic Dysplasia |
|
Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Pterygium, Short ... |
OMIM:211350 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... |
ORPHA:90065 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Short palm, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Elevated circulating creatine ki... |
OMIM:608799 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
| Warburg Micro Syndrome 1 |
|
Overlapping toe, Kyphoscoliosis, Micrognathia, Optic atrophy, Osteoporosis, Developmental catarac... |
OMIM:600118 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Micrognathia, Kyphosis, Dysp... |
ORPHA:1724 |
| Prune1-Related Neurological Syndrome |
|
Cataract, Elevated circulating creatine kinase concentration, Micrognathia, Inability to walk, Op... |
ORPHA:544469 |
| Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Hypospadias, Coronal hypospadias, Short toe, Ulnar deviation of finger, Microcorn... |
ORPHA:921 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Restless legs, Paresis of extensor muscles of the big toe, Abnormality of the hand, Hand muscle w... |
ORPHA:99947 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the anterior chamber, Atrial sep... |
OMIM:602482 |
| Achondroplasia |
|
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... |
OMIM:100800 |
| Familial Dysautonomia |
|
Hyponatremia, Abnormal peritoneum morphology, Renal insufficiency, Orthostatic hypotension, Tachy... |
ORPHA:1764 |
| Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly |
ORPHA:1114 |
| Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Posteriorly rotated ears,... |
OMIM:600325 |
| Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Anorexia, Abnormal femur mor... |
ORPHA:324 |
| Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Pectus carinatum, Abnormal tric... |
ORPHA:192 |
| Cohen Syndrome |
|
Thoracic scoliosis, Bone spicule pigmentation of the retina, Single transverse palmar crease, Bul... |
OMIM:216550 |
| Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Wormian bones, Ventricular septal defect, Tapered finger, Vesicoureteral ref... |
OMIM:617159 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated ci... |
OMIM:614576 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Cataract, Congenital abnormal hair pattern, Corneal opacity, Tapered finger, Heart murm... |
ORPHA:1867 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... |
ORPHA:1436 |
| Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
| Grange Syndrome |
|
Syndactyly, Short palm |
ORPHA:79094 |
| Renpenning Syndrome |
|
Mandibular prognathia, Abnormal hairshaft morphology, Alopecia, Cataract, Hypospadias, Joint stif... |
ORPHA:3242 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
| Gm1-Gangliosidosis, Type Iii |
|
Ataxia, Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebr... |
OMIM:230650 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Hepatomegaly, Corneal opacity |
ORPHA:2432 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Short neck, Micrognathia, Flexion contracture, Low posterior hairline, C... |
OMIM:616549 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocation, Short lon... |
OMIM:620269 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Single transverse palmar crease, Microgn... |
OMIM:214110 |
| Craniofrontonasal Dysplasia |
|
Abnormal clavicle morphology, Finger syndactyly, Broad hallux phalanx, Sandal gap, Down-sloping s... |
ORPHA:1520 |
| Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Abnormal femur morphology, Abnormal form of the vertebral bodies, Abnormalit... |
ORPHA:464329 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Pectus excavatum, Optic atrophy, Dysphagia, Choreoathetosis, Lumbar kyphoscoliosis, Bruxi... |
OMIM:619422 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced ... |
ORPHA:970 |
| Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Abnormality of... |
ORPHA:84 |
| Refsum Disease, Classic |
|
Short fourth metatarsal, Cataract, Ataxia, Cardiomegaly, Congestive heart failure, Elevated circu... |
OMIM:266500 |
| Warburg-Cinotti Syndrome |
|
Retinal dystrophy, Symblepharon, Ankle flexion contracture, Elbow flexion contracture, Osteolytic... |
OMIM:618175 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Micrognathia, Abnormal thorax morphology, Metaphysea... |
ORPHA:73230 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Abnormal carpal morphology, Madelung deformity, Primary amenorrhea, Hip dysplasia, Limb undergrow... |
ORPHA:319675 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Ataxia, Pectus excavatum, Gait ataxia, Thoracic kyphosis, Clinodactyl... |
OMIM:619092 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Gowers sign, Flexion contracture, Proximal muscle weakness in lower limb... |
OMIM:310440 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cataract, Bone-marro... |
OMIM:256550 |
| Wilson Disease |
|
Back pain, Acute hepatic failure, Bone pain, Acute hepatitis, Hepatic steatosis, Hepatomegaly, Hy... |
ORPHA:905 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
| Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Abnormal heart valve morphology, Ovoid vertebral bodies, Short n... |
ORPHA:583 |
| Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t... |
ORPHA:2496 |
| Vernal Keratoconjunctivitis |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal neovascularization, Punctate... |
ORPHA:70476 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Preaxia... |
OMIM:175700 |
| Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Corneal opacity, Alopecia totalis, Micrognathia, Absent thumb,... |
ORPHA:1234 |
| Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Cataract, Ventricular septal defect, Abnormal chorior... |
ORPHA:912 |
| Oculomaxillofacial Dysostosis |
|
Brachydactyly, Corneal opacity, Camptodactyly of finger, Micrognathia, Abnormality of the humerus... |
ORPHA:1794 |
| Sialidosis Type 1 |
|
Urinary excretion of sialylated oligosaccharides, Corneal opacity, Cataract, Ataxia, Decreased ne... |
ORPHA:812 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Polyhydramnios, Aplasia/Hypoplasia of the fibula, Micr... |
ORPHA:2256 |
| Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Short stature, Poor head control, Inter... |
ORPHA:324604 |
| Overlap Myositis |
|
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Subluxation of the small ... |
ORPHA:206572 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Progressive distal muscle weakness, Proximal muscle weakness, Fatty replacement of skeletal muscl... |
ORPHA:397744 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Beaded ribs, Absent os... |
OMIM:166210 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Cervical kyphosis, Hypoplasia of the maxilla, Atrial septal defect, Hypopl... |
ORPHA:79345 |
| Kbg Syndrome |
|
Syndactyly, Vertebral fusion, Single transverse palmar crease, Short neck, Epispadias, Synophrys,... |
OMIM:148050 |
| Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal mesentery m... |
ORPHA:2167 |
| Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... |
OMIM:614500 |
| Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t... |
OMIM:226980 |
| Cri-Du-Chat Syndrome |
|
Single transverse palmar crease, Short neck, Short metatarsal, Premature graying of hair, High ax... |
OMIM:123450 |
| Shox-Related Short Stature |
|
Short stature, Madelung deformity, Genu valgum, Skeletal muscle hypertrophy, Short foot, Tibial b... |
ORPHA:314795 |
| Multiple Sulfatase Deficiency |
|
Broad hallux phalanx, Abnormality of retinal pigmentation, Hepatomegaly, Thick eyebrow, Corneal o... |
ORPHA:585 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditis |
ORPHA:615 |
| Mucopolysaccharidosis Type 2 |
|
Irregularity of vertebral bodies, Abnormal tricuspid valve morphology, Abnormal repetitive manner... |
ORPHA:580 |
| Tbck-Related Intellectual Disability Syndrome |
|
Mandibular prognathia, Short neck, Synophrys, Prominent metopic ridge, Delayed skeletal maturatio... |
ORPHA:488632 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Bone pain, Deformed rib cag... |
ORPHA:289157 |
| Juvenile Paget Disease |
|
Abnormal clavicle morphology, Bowing of the long bones, Abnormality of retinal pigmentation, Recu... |
ORPHA:2801 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... |
OMIM:620135 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentration, Cerebral h... |
OMIM:175780 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormal femur morphology, Ab... |
ORPHA:3429 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
| 3C Syndrome |
|
Hypoplasia of penis, Micrognathia, Short neck, Hemivertebrae, Abnormal tricuspid valve morphology... |
ORPHA:7 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Syndactyly, Hyperactivity, Restlessness, Ventricular septal defect, Ataxia... |
ORPHA:369891 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Os odontoideum, Aortic regurgitation, Joint laxity, Corneal opacity, Unilateral renal... |
OMIM:616603 |
| Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Rocker bottom foot, Short neck, Micrognathia, Optic atrophy, Hand clenching, Arthrogryposis multi... |
OMIM:618766 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Short stature, Motheaten muscle fibers, Palmoplantar hyperkeratosis, Muscular dystrophy, Increase... |
OMIM:226670 |
| Pelvis-Shoulder Dysplasia |
|
Back pain, Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic il... |
OMIM:169550 |
| Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Sclerocornea, Micrognathia, Abnormal form of the vertebral bodies, Atria... |
ORPHA:280 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Antegonial notching of mandible, Short... |
OMIM:170390 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Joint dislocation, Alopecia, Osteomalacia, Recurrent fractures, Abnormal thorax morphology, Bone ... |
ORPHA:93160 |
| Mosaic Trisomy 8 |
|
Corneal opacity, Camptodactyly of finger, Micrognathia, Short neck, Patellar aplasia, Abnormal ri... |
ORPHA:96061 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... |
OMIM:609945 |
| Bardet-Biedl Syndrome 9 |
|
Attenuation of retinal blood vessels, Syndactyly, Bone spicule pigmentation of the retina, Renal ... |
OMIM:615986 |
| Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... |
OMIM:154780 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper... |
OMIM:613243 |
| Distal Symphalangism |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ... |
ORPHA:3248 |
| Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Sparse hair, Juvenile cataract, Sh... |
ORPHA:221008 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Micrognathia, Craniosynostosis, Split hand, Oligohydramnios, Abnor... |
ORPHA:2145 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Talon cusp, Short metatarsal, ... |
OMIM:605282 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST... |
OMIM:261740 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Corneal opacity, Splenomegaly, Limitation of joint... |
ORPHA:93476 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... |
OMIM:617405 |
| Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
| Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Sparse scalp hair, Short metacarpal, Broad eyebrow, Thoracolumbar ky... |
OMIM:618853 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Dentin... |
OMIM:259440 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... |
ORPHA:1788 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Cataract, Ataxia, Megaloblastic anemia, Op... |
OMIM:222300 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Single transverse palmar crease, Micrognathia, Aminoaciduria, Loss of ambulation, Ulnar deviation... |
OMIM:214100 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po... |
OMIM:217085 |
| Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Retinal detachment, Cataract, Highly arched eyebrow, Ectopia lentis, S... |
ORPHA:2712 |
| Bone Marrow Failure Syndrome 3 |
|
Congenital hip dislocation, Aplastic anemia, Micrognathia, Pancreatic steatosis, Reduced bone min... |
OMIM:617052 |
| Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Prominence of the premaxilla, Block vert... |
ORPHA:50 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
| Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, Ectopic k... |
OMIM:122470 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Abnormal vertebral morp... |
ORPHA:217085 |
| Fetal Akinesia Deformation Sequence 3 |
|
Overlapping fingers, Generalized edema, Rocker bottom foot, Micrognathia |
OMIM:618389 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Flexion contracture, Genera... |
OMIM:613327 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Elevated circulating cre... |
ORPHA:268 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
| Larsen Syndrome |
|
Finger syndactyly, Large joint dislocations, Craniosynostosis, Cryptorchidism, Accessory carpal b... |
ORPHA:503 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Distal muscle weakness, Prox... |
ORPHA:329478 |
| Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects |
|
Restlessness, Aggressive behavior, Optic atrophy, Dysphagia, Exudative vitreoretinopathy, Scolios... |
OMIM:615075 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Rhizomelia, Thrombocytopenia |
OMIM:166990 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Sacral dimple, Alopecia, Ventricular septal defect, Rocker bottom foot, Proxim... |
OMIM:619762 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Cardiomegaly, Stiff interphalangeal joints, Hepatomegaly, Portal hypertension, Osteo... |
ORPHA:465508 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
| Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Aplastic anemia, Patellar hypoplasia, Neutropenia, Sparse hair, Ju... |
ORPHA:221016 |
| Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Posteriorly rotated ears, Micromelia, Micrognathia... |
ORPHA:93329 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Delayed cranial suture closure, Carious teeth... |
ORPHA:93324 |
| Scorpion Envenomation |
|
Bundle branch block, Increased circulating NT-proBNP concentration, Prominent U wave, Ketonuria, ... |
ORPHA:466677 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Abnormality of dental color, Hyperphosphaturia, Alopecia, Corneal opacity, Kyphoscoli... |
OMIM:163200 |
| Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Corneal opacity, Micrognathia, Small hand, Antecubital pterygium... |
OMIM:619339 |
| Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Short metacarpal, Brachydactyly, Genu recurvatum, Micromelia, Metaphys... |
OMIM:184260 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Abnormal vertebral morp... |
ORPHA:217093 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Nephrocalcinosis, Short long bo... |
OMIM:615633 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Thenar muscle atrophy... |
ORPHA:2463 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Bowing of the legs, Osteoarthritis, Bone pain, Trapezoidal distal femoral condyles, Femoral bowin... |
OMIM:307800 |
| Osteogenesis Imperfecta, Type Xiii |
|
Femoral bowing, Pectus carinatum, Enlarged thorax, Reduced bone mineral density, Enuresis nocturn... |
OMIM:614856 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ... |
OMIM:259420 |
| Synostoses, Tarsal, Carpal, And Digital |
|
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... |
OMIM:186400 |
| Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase conc... |
ORPHA:904 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex... |
ORPHA:3103 |
| Desbuquois Dysplasia 2 |
|
Single transverse palmar crease, Short neck, Metaphyseal widening, Synophrys, Pectus carinatum, K... |
OMIM:615777 |
| Shashi-Pena Syndrome |
|
Short metacarpal, Unilateral renal agenesis, Highly arched eyebrow, Accelerated skeletal maturati... |
OMIM:617190 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... |
OMIM:612422 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Abnormal heart morphology, Aplasia... |
ORPHA:1067 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Skeletal muscle hypertrophy, Muscular dystrophy, Proximal muscle weakness |
OMIM:613158 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Renal insufficiency, Bilateral single transverse palmar c... |
ORPHA:2377 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Single transverse palmar crease, Flexion contracture, Axial muscle weakness, Arthrogryposis multi... |
ORPHA:178148 |
| Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Mi... |
ORPHA:958 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing... |
OMIM:613848 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Barrel... |
ORPHA:94068 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura... |
ORPHA:93317 |
| Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Abnormal clavicle morphology, Finger syndactyly, Hydroureter, Hypospad... |
ORPHA:568 |
| Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Cataract, Corneal opacity, Ataxia, Optic atrophy, Abnormal form of the vertebral bo... |
ORPHA:93399 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular... |
OMIM:600649 |
| Robinow Syndrome |
|
Micrognathia, Hemivertebrae, Atrial septal defect, Webbed penis, Micropenis, Fused thoracic verte... |
ORPHA:97360 |
| Schneckenbecken Dysplasia |
|
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Adva... |
OMIM:269250 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Curly hai... |
ORPHA:85184 |
| Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Highly arched eyebrow, Micrognathia, Ulnar bowing, Shortening of all dist... |
OMIM:619135 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly |
ORPHA:85447 |
| X-Linked Hypophosphatemia |
|
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... |
ORPHA:89936 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Splenomegal... |
ORPHA:3035 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Proximal muscle weakness, Rhabdomyolysis, Ragged-red muscle fibers, Choreoathetosis, Dystonia, We... |
OMIM:618416 |
| Chime Syndrome |
|
Ventricular septal defect, Corneal opacity, Aplastic clavicle, Supernumerary tooth, Aplasia/Hypop... |
ORPHA:3474 |
| Shwachman-Diamond Syndrome |
|
Osteopenia, Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Metaphyseal cho... |
ORPHA:811 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Cataract, Ventricular septal defect, Recurrent fractures, Micromelia, Abnorm... |
ORPHA:2772 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Alopecia, Congenital hip dislocation, Corneal opacity, Aplasia/Hypoplasia of t... |
ORPHA:1647 |
| Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Apl... |
ORPHA:2769 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
| Mosaic Trisomy 14 |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Micrognathia, Short neck, Abnormal rib... |
ORPHA:1703 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Neurogenic bladder, Abnormal odontoid process morphology, Dextrocardia, Block v... |
OMIM:613686 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
| Achondrogenesis Type 1B |
|
Micromelia, Abnormal enchondral ossification, Micrognathia, Short neck, Short thorax, Abnormal ri... |
ORPHA:93298 |
| Mucopolysaccharidosis, Type X |
|
Beaking of vertebral bodies, Irregular acetabular roof, Aortic regurgitation, Thickened aortic va... |
OMIM:619698 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Gen... |
ORPHA:2831 |
| Cat-Eye Syndrome |
|
Abnormal rib morphology, Hip dysplasia, Chorioretinal coloboma, Iris coloboma, Hydronephrosis |
ORPHA:195 |
| Rothmund-Thomson Syndrome |
|
Osteopenia, Aplastic anemia, Reduced bone mineral density, Neutropenia, Sparse hair, Juvenile cat... |
ORPHA:2909 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Mandibular prognathia, Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Ag... |
OMIM:152950 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Osteopenia, Mandibular prognathia, Metaphyseal widening, Pectus carinatum, Knee dislocation, Clin... |
OMIM:620083 |
| Braddock-Carey Syndrome 1 |
|
Curly hair, Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Hyper... |
OMIM:619980 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Cataract, Decrea... |
OMIM:612394 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora... |
OMIM:304120 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
| Specific Granule Deficiency 2 |
|
Osteopenia, Absent neutrophil specific granules, Brachydactyly, Sandal gap, Thrombocytopenia, Ane... |
OMIM:617475 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br... |
ORPHA:1278 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flex... |
OMIM:608836 |
| Aicardi Syndrome |
|
Retinal detachment, Prominence of the premaxilla, Cataract, Block vertebrae, Proximal placement o... |
OMIM:304050 |
| De Barsy Syndrome |
|
Osteopenia, Delayed eruption of teeth, Congenital hip dislocation, Ventricular septal defect, Wor... |
ORPHA:2962 |
| Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... |
OMIM:309350 |
| 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 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Abnormal thumb morphology, Finger syndactyly, Abnormality of the wrist, Proximal placement of thumb |
ORPHA:1825 |
| Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Short stature, Skeletal muscle hypertrophy, Macroglossia, Myopathy, Muscle weakness |
ORPHA:2349 |
| Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Ventricular septal defect, Hypospadias, Missing ribs, Micrognathia, Hemivertebrae, Do... |
OMIM:220210 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bowing of the long bones, Thin bony cortex, Bulging epiphyses, Rickets of the lower limbs, Alopec... |
OMIM:600785 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Coxa valga, P... |
OMIM:618150 |
| Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Cardiomegaly, Palmoplantar keratoderma, Sparse hair, Enamel hypoplasia |
OMIM:613576 |
| Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Aortic regurgitation, Sandal gap, Tapered finger, Secundum atrial septal defect, P... |
OMIM:620072 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Mi... |
OMIM:602471 |
| Multiple Sulfatase Deficiency |
|
Hepatomegaly, Broad hallux, Corneal opacity, Ataxia, Splenomegaly, Hypoplastic vertebral bodies, ... |
OMIM:272200 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Atrial flutter, Tricuspid regurgitation, Kyphoscoliosis, Cardiomegaly, Abn... |
ORPHA:324410 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... |
ORPHA:1106 |
| Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Papilledema, Facial palsy, Sclerotic scapulae, Broad clavicles... |
OMIM:269500 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Renal cyst, Micropenis, Pelvic kidney, Abnormal repetitive mannerisms, Abnormality of the cervica... |
ORPHA:464311 |
| Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Finger syndactyly, Toe syndactyly, Multicystic kidney dysplasia, Telangiectas... |
ORPHA:1556 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Clinodactyly, Optic atrophy |
OMIM:300928 |
| Diamond-Blackfan Anemia 1 |
|
Micrognathia, Short neck, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Narrow chest, Triph... |
OMIM:105650 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... |
OMIM:308050 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Retinal telangiectasia, Premature graying of hair, Intestinal bleeding, Sparse hair, ... |
OMIM:612199 |
| Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Coarse meta... |
ORPHA:1782 |
| Cooper-Jabs Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Ab... |
ORPHA:1488 |
| Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2n... |
OMIM:617201 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thin bony cortex, Ventricular septal defect, Optic neuropathy, Increased i... |
OMIM:619727 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Short neck, Atrial septal defect, Clinodactyly of the 5th finger, Ocular anterior segment dysgene... |
OMIM:612582 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Renal cyst, Clinodactyly of the 5th finger, Micropenis, Pelvic kidne... |
ORPHA:464306 |
| Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,... |
OMIM:101200 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Respiratory insufficiency due to muscle weakness, Myopathy, Increased variability in muscle fiber... |
OMIM:616816 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Short stature, Irregular femoral epiphysis, Genu valgum, Skeletal muscle hypertrophy, Firm muscles |
OMIM:255710 |
| Cartilage-Hair Hypoplasia |
|
Fair hair, Sparse facial hair, Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Sho... |
OMIM:250250 |
| Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Rhizomelia, Micr... |
OMIM:616229 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Overlapping toe, Highly arched eyebrow, Tapered finger, Supernumerary nipple, Abnormal repetitive... |
OMIM:618653 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Vertebral fusion, Down-sloping shoulders, Pectus excavatum, Metatarsus adductus, Tris... |
OMIM:227330 |
| Dysostosis, Stanescu Type |
|
Bowing of the long bones, Increased bone mineral density, Persistent open anterior fontanelle, Ab... |
ORPHA:1798 |
| Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... |
ORPHA:1055 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tap... |
OMIM:609638 |
| White Forelock With Malformations |
|
Finger syndactyly, Atrial septal defect, Delayed skeletal maturation, Abnormal rib morphology, Jo... |
ORPHA:2475 |
| Cap Myopathy |
|
Poor head control, Facial palsy, Abnormal muscle fiber morphology, Fatiguable weakness of proxima... |
ORPHA:171881 |
| Cleidocranial Dysplasia 2 |
|
Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Delayed eruptio... |
OMIM:620099 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
| Hamamy Syndrome |
|
Osteopenia, Prolonged QRS complex, Micrognathia, Microcytic anemia, Atrial septal defect, Sparse ... |
OMIM:611174 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
| Infantile Refsum Disease |
|
Hepatomegaly, Cataract, Ataxia, Facial palsy, Optic atrophy, Elevated circulating phytanic acid c... |
ORPHA:772 |
| 16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Proximal placement of thumb, Micrognathia, Hig... |
ORPHA:261250 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Single transverse palmar crease, Pectus carinatum, Microcornea, Male ureth... |
ORPHA:464738 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Developmental cataract, Thrombocytopenia, Adducted thumb |
OMIM:601815 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Micrognathia, Con... |
OMIM:208085 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Persistent open anterior fontanelle, Single transverse palmar crease, Micrognathia, Conjugated hy... |
OMIM:614866 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Facial pal... |
OMIM:258450 |
| Walker-Warburg Syndrome |
|
Retinal detachment, Hypoplasia of penis, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Co... |
ORPHA:899 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Proteinuria, Corneal opacity, Micromelia, Ulnar bowing, Madelung deformity, Hematu... |
ORPHA:1765 |
| Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, De... |
OMIM:112350 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
ORPHA:99949 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morpholo... |
OMIM:144750 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Micromelia, Renal cyst, Thoracic dysplasia, Narrow chest, Hepatic fibrosis, Sparse hair, Syndacty... |
OMIM:614091 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
| Gitelman Syndrome |
|
Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Iron deficiency ... |
ORPHA:358 |
| Sanjad-Sakati Syndrome |
|
Hypoplasia of penis, Corneal opacity, Abnormal dental enamel morphology, Patchy osteosclerosis, M... |
ORPHA:2323 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... |
OMIM:309620 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Alopecia, Cataract, Abnormal pulmo... |
ORPHA:974 |
| Phaver Syndrome |
|
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Short ... |
ORPHA:2876 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Mandibular prognathia, Abnormality of retinal pigmentation, Renal insufficiency, Cataract, Sandal... |
ORPHA:2715 |
| Acrootoocular Syndrome |
|
Decreased palmar creases, Abnormal finger flexion crease, Micrognathia, Small hypothenar eminence... |
ORPHA:2980 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi... |
ORPHA:663 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... |
OMIM:616867 |
| Fucosidosis |
|
Cardiomegaly, Anterior beaking of thoracic vertebrae, Vacuolated lymphocytes, Flexion contracture... |
OMIM:230000 |
| Lowry-Maclean Syndrome |
|
Osteopenia, Hypospadias, Single transverse palmar crease, Craniosynostosis, Micrognathia, Hypopla... |
ORPHA:2409 |
| Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Gowers sign, Calf muscle hypertrophy, Myopathy, Pelvic girdle muscle weakness, Increased variabil... |
ORPHA:119 |
| Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Facial palsy, Metaphyseal widening, Cranial hyperostosis, Flared metaphysi... |
OMIM:123000 |
| Gómez-López-Hernández Syndrome |
|
Alopecia of scalp, Corneal opacity, Ataxia |
ORPHA:1532 |
| Eiken Syndrome |
|
Broad femoral neck, Persistence of primary teeth, Delayed epiphyseal ossification, Multiple uneru... |
OMIM:600002 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Chorioretinal coloboma, ... |
ORPHA:1473 |
| Filippi Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, 2-4 toe syndactyly, Optic atrophy, Hy... |
OMIM:272440 |
| Brown-Vialetto-Van Laere Syndrome 2 |
|
Ataxia, Facial palsy, Kyphoscoliosis, Aggressive behavior, Split hand, Optic atrophy, Organic aci... |
OMIM:614707 |
| Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Accelerated skeletal maturation, Hypoplasia of the maxilla, Neonatal epiph... |
OMIM:101800 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Cataract, Abnormal hair morphology, Preaxial polydactyly, Scol... |
ORPHA:64754 |
| Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor, Cataract, Micrognathia, Hypertrophic cardiomyopathy, Broad thumb |
ORPHA:3173 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, He... |
ORPHA:2180 |
| Alg8-Cdg |
|
Hyponatremia, Elevated hepatic transaminase, Cataract, Ataxia, Thrombocytopenia, Optic atrophy, T... |
ORPHA:79325 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Micrognathia, Missing ribs, Short neck, Abnormality of the spleen, Abnor... |
ORPHA:1834 |
| Microphthalmia With Limb Anomalies |
|
Sacral dimple, Toe syndactyly, Sandal gap, Single transverse palmar crease, Abnormal eyelash morp... |
OMIM:206920 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Synophrys, Low anterior hairline, B... |
ORPHA:955 |
| 19P13.12 Microdeletion Syndrome |
|
Short neck, Synophrys, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Hepatic ... |
ORPHA:254346 |
| Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... |
ORPHA:93258 |
| Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil n... |
OMIM:169400 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Decreased nerve conduction velocity, Ulnar deviation of fing... |
ORPHA:2928 |
| Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
| Smith-Mccort Dysplasia 2 |
|
Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatarsal, Limited ... |
OMIM:615222 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Macular atrophy, Epistaxis, Hypersplenism, Splenomegaly, Thrombocytop... |
OMIM:230800 |
| Seckel Syndrome 1 |
|
11 pairs of ribs, Ivory epiphyses, Pancytopenia, Hyperactivity, Sandal gap, Abnormal finger flexi... |
OMIM:210600 |
| Blomstrand Lethal Chondrodysplasia |
|
Micrognathia, Accelerated skeletal maturation, Narrow chest, Distal shortening of limbs, Short me... |
ORPHA:50945 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypospadias, Corneal opacity, Dilated cardiomyopathy, Flexion contracture, Micropenis, Developmen... |
OMIM:618815 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Waddling gait, Elevated circulating creatine kinase concentration, First degree atrioventricular ... |
OMIM:310300 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... |
ORPHA:2502 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Short neck, Abnorm... |
ORPHA:2994 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Respiratory insufficiency due to muscle weakness, Gowers sign, Ragged-red muscle fibers, Limb mus... |
OMIM:609560 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Medial flaring of the eyebrow, Retinal detachment, Cataract, Ataxia, Coxa valga, Micrognathia, Ag... |
OMIM:619833 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Lingual dystonia, Paroxysmal choreoathetosis, Ragged-red muscle fibers, Ophthalmoparesis |
OMIM:500003 |
| Mosaic Trisomy 1 |
|
Thoracic scoliosis, Single transverse palmar crease, Renal cyst, Finger clinodactyly, Micropenis,... |
ORPHA:1692 |
| Gaucher Disease |
|
Osteopenia, Joint dislocation, Elevated circulating C-reactive protein concentration, Osteoarthri... |
ORPHA:355 |
| Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent... |
OMIM:119600 |
| Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Delayed closure of the anterior fontanelle, Carious teeth, Thin clavicles, Hypoma... |
OMIM:244460 |
| Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormal retinal morphology, Cataract,... |
ORPHA:170 |
| Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve, Single transverse palmar crease, Tubulointerstitial nephritis, Hepatic fib... |
OMIM:218330 |
| Eem Syndrome |
|
Finger syndactyly, Abnormality of retinal pigmentation, Sparse scalp hair, Absent eyebrow, Cariou... |
ORPHA:1897 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Bicuspid aortic valve, Proximal placement of thumb, Abnormal thumb morph... |
ORPHA:1120 |
| Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Mandibular prognathia, Tricuspid regurgitation, Ataxia, Tapered finger, Inability to walk, Optic ... |
OMIM:619576 |
| Hypophosphatasia, Infantile |
|
Micromelia, Bowing of the legs, Anorexia, Nephrocalcinosis, Intracranial hemorrhage, Unossified v... |
OMIM:241500 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
| Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye... |
ORPHA:87 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Ataxia, Kyphosis, Metaphyseal widening, Craniofacial osteosclerosis, Op... |
OMIM:618476 |
| Takenouchi-Kosaki Syndrome |
|
Overlapping toe, Hypospadias, Proximal placement of thumb, Tapered finger, Unilateral renal agene... |
OMIM:616737 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Athetosis, Ragged-red muscle fibers, Dystonia |
OMIM:615159 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Syndactyly, Toe syndactyly, Low-set ears, Clinodactyly of the 5th finger, Amelia, Testicular atrophy |
OMIM:601163 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Retinal neovascularization, Nephropathy, Retinal cotton wool spot, Raynaud phe... |
ORPHA:247691 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Micrognathia, F... |
OMIM:617952 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Micrognathia, Carious teeth, Hypoplastic pubic bone, Flared metaphysis, Short long bone, Small ep... |
ORPHA:93346 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Short neck, Elevated 8(9)-cholestenol, Hemivertebrae, Sparse hair, Rhizomelia, Sparse eyebrow, Ab... |
OMIM:302960 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Cataract, Camptodactyly of finger, Pectus excavatum, Dilated cardiomyopathy, Optic atrophy, Flexi... |
ORPHA:272 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Overlapping toe, Broad hallux, Hypoplasia of the tooth germ, Micrognathia, Highly arched eyebrow,... |
ORPHA:293967 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Ataxia, Keratitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sicca, Conjunc... |
OMIM:278730 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Short metacarpal, Cryptorchidism, Short metatarsal, Advanced ossification ... |
OMIM:614613 |
| Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Hepatosplenomegaly, Bell-shape... |
OMIM:614592 |
| Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Short metatarsal, Broad ribs, Broad metacarpals, Short metacarpal, Lum... |
OMIM:608328 |
| Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn... |
OMIM:270200 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Barrel-shaped chest, Short humerus, Bowing of the long bones, Osteopenia, Increased bone mineral ... |
OMIM:239000 |
| Prolidase Deficiency |
|
Abnormality of retinal pigmentation, Hepatomegaly, Arachnodactyly, Micrognathia, Carious teeth, S... |
ORPHA:742 |
| Cinca Syndrome |
|
Joint dislocation, Hepatomegaly, Abnormality of thrombocytes, Elevated circulating C-reactive pro... |
ORPHA:1451 |
| Bosch-Boonstra-Schaaf Optic Atrophy Syndrome |
|
Optic disc pallor, Slow-growing hair, Tapered finger, Optic atrophy, Compulsive behaviors, Promin... |
OMIM:615722 |
| Sheldon-Hall Syndrome |
|
Ulnar deviation of the wrist, Tarsal synostosis, Micrognathia, Adducted thumb, Ulnar deviation of... |
ORPHA:1147 |
| Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Skeletal muscle hypertrophy, Blepharo... |
OMIM:602124 |
| Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Facial palsy, Hand muscle weakness, External ophthalmoplegia, Proximal muscle w... |
ORPHA:254886 |
| Ivic Syndrome |
|
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad... |
ORPHA:2307 |
| 8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Cataract, Corneal opacity, Camptodactyly of finger, Scler... |
ORPHA:284160 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Hypospadias, Micrognathia, Peters anomaly, Optic atrophy, Dysphagia, A... |
ORPHA:494344 |
| Andersen-Tawil Syndrome |
|
Abnormality of dental color, Micrognathia, Hypoplasia of the maxilla, Prominent U wave, Abnormal ... |
ORPHA:37553 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Multiple prenatal fractures, Tibial bowing, Femoral bowing, Decreased skull ossificat... |
OMIM:610915 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:212140 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Short neck, Sclerocornea, Abnorma... |
ORPHA:818 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Short stature, Ophthalmoplegia, Ragged-red muscle fibers, Flexion contracture, Left ventricular n... |
OMIM:252011 |
| Proteus-Like Syndrome |
|
Mandibular prognathia, Retinal detachment, Thymus hyperplasia, Cataract, Genu recurvatum, Splenom... |
ORPHA:2969 |
| Lethal Congenital Contracture Syndrome 5 |
|
Congenital contracture, Flexion contracture, Centrally nucleated skeletal muscle fibers |
OMIM:615368 |
| Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
| Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Telangiectasia of the... |
ORPHA:75508 |
| Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short neck, Knee flexi... |
OMIM:114300 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han... |
OMIM:200600 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Muscle weakness, Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Silver-Russell Syndrome 3 |
|
Syndactyly, Unilateral cryptorchidism, Small hand, Antecubital pterygium, Low-set ears, Clinodact... |
OMIM:616489 |
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
| Lathosterolosis |
|
Abnormal thoracic spine morphology, Hepatomegaly, Toe syndactyly, Hypoplasia of penis, Prominent ... |
ORPHA:46059 |
| Craniometadiaphyseal Dysplasia |
|
Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Coxa valga, Carious teeth, Flar... |
OMIM:269300 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... |
OMIM:306955 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo... |
ORPHA:536467 |
| Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Overlapping fingers, Overriding aorta, Ventricular septal defect, Stiff neck,... |
OMIM:617022 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
| Mucopolysaccharidosis, Type Iiid |
|
Thoracic scoliosis, Thickened ribs, Short neck, Synophrys, Ovoid thoracolumbar vertebrae, Hypopla... |
OMIM:252940 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter, Poor head control |
OMIM:613752 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Triploidy |
|
Finger syndactyly, Hepatomegaly, Hypoplasia of penis, Hypospadias, Cataract, Micrognathia, Short ... |
ORPHA:3376 |
| Achondrogenesis Type 1A |
|
Multiple rib fractures, Recurrent fractures, Micromelia, Abnormal enchondral ossification, Microg... |
ORPHA:93299 |
| Noonan Syndrome 4 |
|
Pectus excavatum of inferior sternum, Ureteral duplication, Curly hair, Ventricular septal defect... |
OMIM:610733 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Optic atrophy, Cardiomyopathy, Progressive gait ataxia, Progressive cerebellar atax... |
ORPHA:1177 |
| Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Pectus carinatum, Humerus varus, Coarse hair, Narrow chest, Short palm, La... |
ORPHA:198 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Mandibular prognathia, Aortic regurgitation, Bicuspid aortic valve, Cervical kyphosis, Highly arc... |
ORPHA:401923 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... |
OMIM:300863 |
| Alg12-Cdg |
|
Proximal placement of thumb, Micrognathia, Abnormal peripheral nervous system morphology, Hypoalb... |
ORPHA:79324 |
| Hallermann-Streiff Syndrome |
|
Micrognathia, Metaphyseal widening, Choreoathetosis, Chorioretinal coloboma, Sparse hair, Iris co... |
OMIM:234100 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Micrognathia, Short neck, Generalized joint laxity, Tibial bowing, Clinodactyly of th... |
ORPHA:251028 |
| Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ... |
ORPHA:2050 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Persistent open anterior fontanelle, Congenital hip dislocation, Corneal opacity, Thick hair, Joi... |
ORPHA:357058 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Septo-optic dysplasia, Multicystic kidney dysplasia, Cataract, Mis... |
ORPHA:3301 |
| Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Micromelia, Proximal placement of thumb, Micrognathia, Short neck, Synophrys... |
ORPHA:199 |
| Pycnodysostosis |
|
Increased bone mineral density, Persistent open anterior fontanelle, Wormian bones, Aplastic clav... |
OMIM:265800 |
| Gapo Syndrome |
|
Mandibular prognathia, Abnormal clavicle morphology, Delayed eruption of teeth, Alopecia, Sparse ... |
ORPHA:2067 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Cataract, U... |
OMIM:609033 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognathia, Flat ca... |
OMIM:147891 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Hypoplasia of penis, Micromelia, Postaxial hand polydactyly, Split hand, Abnormali... |
ORPHA:2491 |
| Malaria |
|
Elevated circulating C-reactive protein concentration, Anemia, Gait imbalance, Hyperbilirubinemia... |
ORPHA:673 |
| Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Cataract, Aganglionic megacolon, Ventricular septal defect, Hypospadia... |
OMIM:235730 |
| Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Tarsal synostosis, Bilateral conductive hearing impairment, Atresia of the external auditory cana... |
ORPHA:2010 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b... |
ORPHA:2878 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy... |
OMIM:613091 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... |
ORPHA:254864 |
| Schizophrenia 1 |
|
Syndactyly, Short proximal phalanx of the 4th toe |
OMIM:181510 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Short neck, Flexion contracture, Pectus carinatum, Leukopenia, Thoracic kyphosis, Hypoalbuminemia... |
ORPHA:505248 |
| Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppa... |
ORPHA:14 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... |
OMIM:602418 |
| Codas Syndrome |
|
Congenital hip dislocation, Proximal placement of thumb, Generalized joint laxity, Atrial septal ... |
OMIM:600373 |
| Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Iridodonesis, Ataxia, Tapered finger, Micrognathia, Kyphosis, Hypoplasia of the iris,... |
ORPHA:2479 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Rhizomelia, Delayed skeletal maturation, Femoral bowing, Platyspondyly, Thoraci... |
OMIM:619638 |
| Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:614082 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Hypos... |
ORPHA:2311 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Ne... |
OMIM:300554 |
| Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Neurogenic bladder, Ventricular septal defect, Bicuspid aortic valve, Micrognat... |
OMIM:130720 |
| Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Lumbar hyperlordosis, Ventricular septal defect, Cataract, Ectopia lentis, Hypo... |
OMIM:277600 |
| Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Osteolysis involving bones of the upper limbs, Abnormal peripheral nervous system morphology, Int... |
ORPHA:464321 |
| Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Abnormality of neutr... |
ORPHA:235 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Hypospadias, Hypoplasia of the maxilla, Polycoria, Microcornea, Hypoplasia of the... |
OMIM:180500 |
| Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurrent fractures, Joint stiffness, ... |
ORPHA:83 |
| Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Micrognathia, Osteoarthritis, Reduced bone mineral density, Intracranial h... |
ORPHA:740 |
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Metaphyseal dysplasia, Facial palsy, Abnormal thorax morphology, Flared me... |
OMIM:218400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Proximal muscle weakness, Flexion contracture, Hip dislocation, Generalized muscle ... |
OMIM:613156 |
| Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cardiomegaly |
ORPHA:858 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretin... |
OMIM:613702 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Thrombocytopenia, Optic atrophy, Hyper... |
ORPHA:79312 |
| Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
| Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
| Waardenburg Syndrome, Type 3 |
|
Mandibular prognathia, Scapular winging, Camptodactyly of finger, Sensorineural hearing impairmen... |
OMIM:148820 |
| Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Ataxia, Coxa valga, Joint stiffness, Splenomegaly, Optic atrophy, Dysphagia, Hypopl... |
OMIM:230600 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... |
OMIM:602557 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... |
OMIM:255120 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... |
ORPHA:99103 |
| Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Hypertension, Proteinuria, Thrombocytopenia |
OMIM:189800 |
| Mycetoma |
|
Back pain, Abnormality of the knee, Osteomyelitis, Abnormality of the hand, Abnormal thorax morph... |
ORPHA:2583 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossific... |
OMIM:210710 |
| Ulnar-Mammary Syndrome |
|
Abnormal clavicle morphology, Hypoplasia of penis, Aplasia of the pectoralis major muscle, Abnorm... |
ORPHA:3138 |
| Mohr Syndrome |
|
Syndactyly, Wormian bones, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Po... |
OMIM:252100 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration... |
OMIM:613153 |
| Atelosteogenesis Type I |
|
Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem... |
ORPHA:1190 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Noncompaction cardiomyopathy, Tricusp... |
ORPHA:508542 |
| Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
| Kagami-Ogata Syndrome |
|
Atrial septal defect, Hepatomegaly, Long clavicles, Ventricular septal defect, Kyphoscoliosis, Co... |
OMIM:608149 |
| Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Hepatomegaly, Overlapping toe, Delayed cranial suture closure, Inability to walk, Delayed skeleta... |
OMIM:619383 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... |
OMIM:184460 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Dysmenorrhea, Micrognathia, Cryptorchidism, Short 5th finger, Polydactyly, Ectrodacty... |
ORPHA:397590 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Radioulnar synostosis, Short middle phalanx of the 4th finger, Neutropenia, Ove... |
OMIM:616738 |
| Muscle Hypertrophy |
|
Skeletal muscle hypertrophy |
OMIM:614160 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Myopathy, Centrally nucleated skeletal muscle fibers |
OMIM:300219 |
| Campomelia, Cumming Type |
|
Hepatomegaly, Bowing of the long bones, Abnormally ossified vertebrae, Multicystic kidney dysplas... |
ORPHA:1318 |
| Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
3-4 finger syndactyly, 2-3 toe syndactyly |
OMIM:600906 |
| Bohring-Opitz Syndrome |
|
Joint dislocation, Micrognathia, Flexion contracture, Low anterior hairline, Abnormal optic nerve... |
OMIM:605039 |
| Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... |
OMIM:619334 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Ureteral stenosis, Arachnodactyly, Corneal opacity, Cataract, Ataxia, A... |
ORPHA:2719 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
| Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Rocker bottom foot, Recurrent fractures, Micrognathia, Keratitis, Corneal erosion,... |
ORPHA:453510 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Hypoplasia of penis, Facial palsy, Hyperlordosis, Delayed skeletal mat... |
ORPHA:3068 |
| 3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb,... |
ORPHA:435638 |
| Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Sacral dimple, Hyperactivity, Ventricular septal defect, Hypospadias, Absen... |
OMIM:617516 |
| Limb Body Wall Complex |
|
Abnormality of the liver, Cutaneous finger syndactyly, Atrial septal defect, Aplasia of the proxi... |
ORPHA:2369 |
| Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Abnormal penis morphology, Cataract, Hypospadia... |
ORPHA:2588 |
| Craniofaciofrontodigital Syndrome |
|
Osteopenia, Bicuspid aortic valve, Cardiomegaly, Low anterior hairline, Pectus carinatum, Finger ... |
ORPHA:363705 |
| Classic Homocystinuria |
|
Anorexia, Pulmonary embolism, Pectus carinatum, Intracranial hemorrhage, Hepatomegaly, Arachnodac... |
ORPHA:394 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Cardiomegaly, Corneal arcus, Joint contracture of the 5th finger, Atrial septal defect, Micropeni... |
OMIM:602782 |
| Chops Syndrome |
|
Curly hair, Cataract, Ventricular septal defect, Thick hair, Tracheomalacia, Splenomegaly, Synoph... |
OMIM:616368 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Hyperactivity, Synophrys, Low anterior hairline, Pica, Pe... |
OMIM:617796 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... |
ORPHA:3472 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Generalized muscle weakness |
OMIM:614096 |
| Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Episodic flaccid weakness, Respiratory paralysis, Increased int... |
ORPHA:681 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Thickened ribs, Cardiomegaly, Heparan sulfate excretion in urine, Sp... |
OMIM:252920 |
| Morquio Syndrome C |
|
Platyspondyly, Corneal opacity |
OMIM:252300 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
| Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Ankle swelling, Wrist swelling, Retinal pigment epithelia... |
ORPHA:448237 |
| Cln3 Disease |
|
Cataract, Ataxia, Bull's eye maculopathy, Aggressive behavior, Vacuolated lymphocytes, Optic atro... |
ORPHA:228346 |
| Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Anisocoria, Supraventricular tachycardia, Sparse hair, Clinodactyly of the... |
OMIM:181270 |
| Brittle Cornea Syndrome |
|
Hallux valgus, Retinal detachment, Arachnodactyly, Corneal dystrophy, Corneal erosion, Osteoporos... |
ORPHA:90354 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Limited elbow extension, Short metatarsal, Small hand, Short foot, ... |
OMIM:180870 |
| Cystinosis |
|
Renal insufficiency, Proteinuria, Corneal opacity, Portal hypertension, Abnormal repetitive manne... |
ORPHA:213 |
| Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Microretrognathia, Alo... |
OMIM:614008 |
| Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi... |
ORPHA:56305 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
| Steel Syndrome |
|
Carpal synostosis, Sensorineural hearing impairment, Hip dislocation, Coxa vara, Clinodactyly of ... |
OMIM:615155 |
| Alpha-Mannosidosis, Adult Form |
|
Osteopenia, Optic disc pallor, Aortic regurgitation, Pancytopenia, Corneal opacity, Cataract, Ata... |
ORPHA:309288 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... |
OMIM:601005 |
| Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Pectus excavatum, Mic... |
OMIM:311900 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Os odontoideum, Optic disc pallor, Cataract, Ataxia, Macular coloboma, Abnormal auditory evoked p... |
OMIM:619260 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Micromelia, Dumbbell-shaped long bone, Lateral ... |
ORPHA:3144 |
| Say Syndrome |
|
Ulnar deviation of the 3rd finger, Micrognathia, Tapered finger, Macrotia, Short distal phalanx o... |
OMIM:181180 |
| Developmental And Epileptic Encephalopathy 95 |
|
Joint laxity, Hepatomegaly, Short fourth metatarsal, Brachydactyly, Multiple joint contractures, ... |
OMIM:618143 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, La... |
OMIM:617895 |
| Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Congenital hip dislocation, Ventricular septal defect, Renal insuff... |
ORPHA:2970 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys... |
ORPHA:93316 |
| Bruck Syndrome 2 |
|
Osteopenia, Wormian bones, Flexion contracture, Elbow flexion contracture, Femoral bowing, Pectus... |
OMIM:609220 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Osteopenia, Telangiectasia of the skin, Recurrent shoulder dislocation, Down-sloping shoulders, D... |
OMIM:212112 |
| Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
| Jacobsen Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hypospadias, Missing ribs, Pectus excavatum, Mic... |
OMIM:147791 |
| Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Syndactyly, Clinodactyly, Short finger |
OMIM:300049 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flat glenoid fos... |
OMIM:224690 |
| Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Arachnodactyly, Joint stiffness, Pectus excavatum, Optic atrophy, Deviation of finger, Bilateral ... |
ORPHA:1154 |
| Vitamin K Antagonist Embryofetopathy |
|
Cataract, Short neck, Optic atrophy, Punctate vertebral calcifications, Epiphyseal stippling, Sho... |
ORPHA:1914 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly |
OMIM:619091 |
| Aredyld Syndrome |
|
Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Abnormal dental enamel morphology... |
ORPHA:1133 |
| Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Dental malocclusion, Spastic gait, Reduced bone mineral density, Pectus ca... |
ORPHA:3079 |
| Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Symphalangism... |
ORPHA:710 |
| Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Hepatic fibrosis, M... |
OMIM:209900 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:607616 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Skeletal muscle hypertrophy, Tremor, Muscle weakness |
ORPHA:99014 |
| Satoyoshi Syndrome |
|
Short metacarpal, Short stature, Short metatarsal, Osteolytic defects of the phalanges of the han... |
OMIM:600705 |
| Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Craniosynostosis, Preaxial hand ... |
ORPHA:1553 |
| Sengers Syndrome |
|
Osteopenia, Cataract, Cardiac arrest, Sudden cardiac death, Developmental cataract, 3-Methylgluta... |
OMIM:212350 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath... |
OMIM:227270 |
| Joubert Syndrome 33 |
|
Syndactyly |
OMIM:617767 |
| Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
| Gaucher Disease Type 1 |
|
Osteopenia, Anorexia, Osteoarthritis, Bone pain, Leukopenia, Avascular necrosis, Biliary tract ob... |
ORPHA:77259 |
| Anauxetic Dysplasia 1 |
|
Mandibular prognathia, Hip contracture, Rhizomelia, Hypoplastic ilia, Short toe, Flared metaphysi... |
OMIM:607095 |
| Omodysplasia 2 |
|
Short humerus, Hypospadias, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Limited el... |
OMIM:164745 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Long palm, Camptodactyly of finger, T... |
ORPHA:2215 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia, Clinodactyly, Radial deviation of finger, Micrognathia |
OMIM:188025 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
| Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Short neck, Thrombocytopenia, Elevated circulating creatinine concentration, Choles... |
OMIM:608104 |
| Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu... |
OMIM:187600 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Fg Syndrome Type 1 |
|
Single transverse palmar crease, Micrognathia, Generalized joint laxity, Abnormal sternum morphol... |
ORPHA:93932 |
| Atelis Syndrome 1 |
|
Cataract, Ventricular septal defect, Carious teeth, Thrombocytopenia, Lumbar kyphosis, Leukopenia... |
OMIM:620184 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Shortening of all metacarpals, Shortening of all phalanges of fingers, Platyspondy... |
OMIM:601356 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Proteinuria, Ataxia, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Cli... |
OMIM:603585 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal widening, Advan... |
OMIM:224400 |
| Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Short metatarsal, Low anter... |
OMIM:617137 |
| Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... |
OMIM:140000 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Micrognathia, Proximal femoral metaphyseal irregularity, Subretinal deposits, Early ossification ... |
ORPHA:397715 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Flexion contracture, F... |
OMIM:207410 |
| Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Osteop... |
ORPHA:2169 |
| Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Hemivertebrae, Microcornea, Vesicoureteral reflux, Atrial s... |
OMIM:118450 |
| Postaxial Acrofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi... |
ORPHA:246 |
| Mucolipidosis Iv |
|
Opacification of the corneal stroma, Optic atrophy, Retinal degeneration, Corneal opacity |
OMIM:252650 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Micrognathia, Thin ribs, Slender long bone, Decreased calvarial ossification, V... |
OMIM:618265 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Bulbar palsy, Distal muscle weakness, Abnormal morphology of musculature of pharynx, Ankle weakne... |
ORPHA:600 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatarsal, Short fo... |
OMIM:190351 |
| Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Hypospadias, Hypoplastic iliac wing, Capitate-hamate fusi... |
OMIM:225500 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Short neck, Synophrys, Low anterior hairline, Irregular vertebral endplates, Posterior scalloping... |
OMIM:610442 |
| Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Bowing of the legs, Leukocoria, Telangiectasia, Hypertension, Short lower limbs |
OMIM:219250 |
| Congenital Disorder Of Deglycosylation 1 |
|
Single transverse palmar crease, Oral-pharyngeal dysphagia, Dysmetria, Hepatic fibrosis, Chondroi... |
OMIM:615273 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Peripheral retinal avascularization, Single transverse palmar crease, Micr... |
ORPHA:96334 |
| Nail-Patella Syndrome |
|
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the later... |
OMIM:161200 |
| Hemochromatosis, Type 1 |
|
Arthropathy, Hepatomegaly, Alopecia, Elevated hepatic transaminase, Cardiomegaly, Splenomegaly, I... |
OMIM:235200 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
| Dent Disease 1 |
|
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Ne... |
OMIM:300009 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Sideroblastic anemia, Ventricular septal defect, Ataxia, Situs inversus ... |
OMIM:249270 |
| Coxopodopatellar Syndrome |
|
Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog... |
ORPHA:1509 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Hepatomegaly, Bowing of the long bones, Abnormal pulmonary valve morph... |
ORPHA:667 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615270 |
| Occipital Horn Syndrome |
|
Persistent open anterior fontanelle, Decreased circulating ceruloplasmin concentration, Pectus ca... |
OMIM:304150 |
| Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Sparse eyelashes, Micrognathia, Short neck, Supernumerary tooth, Delayed skele... |
ORPHA:1787 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Cardiomyopathy, 3-Methylglutaconic aciduria, Decreased liver function, Thrombocytopenia... |
ORPHA:67048 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Axial dystonia, External ophthalmoplegia, Flexion contracture, Growth delay, Increased variabilit... |
OMIM:619026 |
| Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Intraventricular hemorrhage, De... |
OMIM:616507 |
| Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly |
OMIM:149000 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Facial palsy, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fracture... |
OMIM:166600 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, S... |
ORPHA:168555 |
| Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Cataract, Retinal dystrophy, Proximal placement of thumb, Sclerocornea, Postax... |
ORPHA:139471 |
| Xylt1-Cdg |
|
Joint dislocation, Hepatomegaly, Joint laxity, Coxa valga, Accelerated skeletal maturation, Synop... |
ORPHA:370930 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Cockayne Syndrome A |
|
Mandibular prognathia, Dry hair, Abnormal peripheral myelination, Ivory epiphyses of the phalange... |
OMIM:216400 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Growth delay, General... |
OMIM:613561 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
| Bohring-Opitz Syndrome |
|
Joint dislocation, Cardiomegaly, Micrognathia, Synophrys, Congenital contracture, Prominent metop... |
ORPHA:97297 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short metacarpal, Single interphalangeal crease of fifth finger, Malar flattening, Hypoplastic il... |
OMIM:611717 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Lymphedema, Microtia, Camptodactyly, Hearing impairment |
OMIM:616006 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Overlapping toe, Single transverse palmar crease, Tapered finger, Optic atrophy... |
OMIM:617807 |
| Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Mic... |
ORPHA:1225 |
| Muscular Dystrophy, Duchenne Type |
|
Waddling gait, Abnormal EKG, Elevated circulating creatine kinase concentration, Hyperlordosis, C... |
OMIM:310200 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Retinal dystrophy, Cardiac arrest, Megaloblastic anemia, Anorexia, Con... |
ORPHA:49827 |
| Warburg Micro Syndrome 3 |
|
Cataract, Kyphoscoliosis, Micrognathia, Inability to walk, Flexion contracture, Optic atrophy, Lo... |
OMIM:614222 |
| Aarskog-Scott Syndrome |
|
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar creas... |
OMIM:305400 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Congenital hip dislocation, Micromelia, Bowing of the legs, Quadriceps m... |
OMIM:255800 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Growth delay, Viral infection-induced rha... |
ORPHA:57 |
| Omodysplasia 1 |
|
Micrognathia, Short neck, Limited elbow flexion, Atrial septal defect, Short tibia, Rhizomelia, I... |
OMIM:258315 |
| Silver-Russell Syndrome 1 |
|
Syndactyly, Urethral valve, Hypospadias, Micrognathia, Delayed skeletal maturation, Abnormality o... |
OMIM:180860 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Joint dislocation, Genu recurvatum, Single transverse palmar crease, Micrognathia, Ac... |
OMIM:130070 |
| 19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Congenital hip dislocation, Hypospa... |
ORPHA:217346 |
| Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Ectopic kidney, Short neck, Flexion contracture, Hypopla... |
OMIM:263650 |
| Dyskeratosis Congenita |
|
Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Premature graying of hair, Spa... |
ORPHA:1775 |
| Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Sandal gap, Elevated circulating ... |
ORPHA:79322 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Total ophthalmoplegia, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Resting tre... |
OMIM:157640 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Single transverse palmar crease, Highly arched eyebrow, Synophrys, Vertebral clefting... |
OMIM:614701 |
| Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Thick hair, Abnormal hair pattern, Micrognathia, Long eyelashes, Spina bifida ... |
ORPHA:1514 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Vertebral fusion, Cataract, Ventricular septal defect, Optic nerve hypoplasi... |
OMIM:206900 |
| Cockayne Syndrome B |
|
Mandibular prognathia, Dry hair, Abnormal peripheral myelination, Ivory epiphyses of the phalange... |
OMIM:133540 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Distal clavicular thinning, Elevated circulating creatine kinase concentration,... |
OMIM:600092 |
| Three M Syndrome 2 |
|
Delayed eruption of teeth, Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Del... |
OMIM:612921 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Optic disc pallor, Sandal gap, Highly arched eyebrow, Nail dystrophy, At... |
OMIM:300887 |
| Distal Monosomy 7Q36 |
|
Hypoplasia of penis, Micrognathia, Pectus excavatum, Short neck, Optic atrophy, Symphalangism aff... |
ORPHA:1636 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Dextrocardia, Craniosynostosis, Micrognathia, Abnormal repetitive m... |
ORPHA:261197 |
| Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
| Myotonia Permanens |
|
Short stature, Ophthalmoplegia, Generalized muscle hypertrophy, Ophthalmoparesis, Skeletal muscle... |
ORPHA:99735 |
| Atelis Syndrome 2 |
|
Sacral dimple, Remnants of the hyaloid vascular system, Single transverse palmar crease, Microgna... |
OMIM:620185 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Thoracic scoliosis, Hepatomegaly, Alopecia, Fair hair, Cardi... |
ORPHA:79330 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Sparse hair, Atrial septal defect, Pate... |
OMIM:620005 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Single transverse palmar crease, 2-3 toe syndactyly, Oligohydramnios, Cutaneou... |
OMIM:236500 |
| 2P15P16.1 Microdeletion Syndrome |
|
Enlarged thorax, Bilateral single transverse palmar creases, Multicystic kidney dysplasia, Promin... |
ORPHA:261349 |
| Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Micrognathia, Short neck, Flexion contracture, Acanthocytosis, Scoliosis, Hand... |
OMIM:618947 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Pancreatic fibrosis, Postaxial polydactyly, Lateral clavic... |
OMIM:615503 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Optic disc pallor, Increased bone mineral density, Hepatomegaly, Reticulocytosis, Facial palsy, R... |
OMIM:611490 |
| Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Delayed skeletal maturation, Fibular hypoplasi... |
OMIM:612447 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Narrow chest, Vesicoureteral reflux, Abnormality of the wris... |
ORPHA:95699 |
| 48,Xxxy Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Short neck, Pulmonary embolism, Clinodactyly of the 5... |
ORPHA:96263 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Epiphyseal dysplasia, Hyponatremia, Congenital hip dislocation, Calcinosis, Cataract,... |
OMIM:617913 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... |
OMIM:606842 |
| Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Brachydactyly, Hypospadias, Abnormal hair pattern, Pectus e... |
ORPHA:1786 |
| Forsythe-Wakeling Syndrome |
|
Nephrotic syndrome, Delayed skeletal maturation, Osteoporosis, Thrombocytopenia |
OMIM:613606 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Ophthalmoplegia, Increased variability in muscle fiber diameter |
OMIM:125250 |
| Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... |
ORPHA:57777 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Short neck, Low posterior hairline, Fused cervical vertebrae, Scoliosi... |
OMIM:214300 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Hypoplasia of the maxilla, Low anterior hairline, Coarse hair, Astigmatism, Abnorma... |
ORPHA:2095 |
| 7Q11.23 Microduplication Syndrome |
|
Single transverse palmar crease, Micrognathia, Short neck, Hemivertebrae, Dysmetria, Abnormal opt... |
ORPHA:96121 |
| 3Q29 Microduplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Sandal gap, Craniosynostosis, Short neck, Sclerocornea... |
ORPHA:251038 |
| Woods Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Supernumerary nipple, Optic atrophy, ... |
OMIM:615236 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, T... |
OMIM:603552 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Thoracolumbar scoliosis, ... |
OMIM:616723 |
| Amyotrophic Lateral Sclerosis 20 |
|
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hypoplastic ischia, Micrognathia, Pectus carinatum, Knee flexion contracture, Chorioretinal colob... |
OMIM:210730 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr... |
OMIM:218600 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Macrocytic anemia, Ataxia, Thrombocytopenia, Optic atrophy, Hy... |
ORPHA:27 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th... |
ORPHA:163966 |
| Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Progressive external ophthalmoplegia |
ORPHA:480 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Trisomy 20P |
|
Micrognathia, Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Reduced b... |
ORPHA:261318 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, Macrovesicular hepati... |
OMIM:619127 |
| 49,Xxxxy Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Short neck, Pulmonary embolism, Low frustration toler... |
ORPHA:96264 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Meta... |
OMIM:182212 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Generalized muscle weakness, ... |
OMIM:620278 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short neck, Hy... |
OMIM:614800 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, Splenom... |
OMIM:615631 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Axial dystonia, Skeletal muscle atrophy, Distal muscle weakness, Neck flexor weakness, Proximal m... |
ORPHA:300605 |
| Myasthenic Syndrome, Congenital, 19 |
|
Bulbar palsy, Poor head control, Distal muscle weakness, Facial palsy, Proximal muscle weakness, ... |
OMIM:616720 |
| Fryns Syndrome |
|
Multicystic kidney dysplasia, Aganglionic megacolon, Hypospadias, Corneal opacity, Micrognathia, ... |
ORPHA:2059 |
| Grant Syndrome |
|
Wormian bones, Micrognathia, Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
| Jaberi-Elahi Syndrome |
|
Broad-based gait, Brittle hair, Sparse eyelashes, Cataract, Joint stiffness, Sparse eyebrow, Kyph... |
OMIM:617988 |
| Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Beaking of vertebral ... |
OMIM:231070 |
| Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Neutrophilia, Osteomyelitis, Elevated circulating C-reactive protein co... |
OMIM:612852 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Abnormal sacrum morphology, Optic atrophy, Abnormal form of the verteb... |
ORPHA:93262 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-4 finger syndactyly, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous finger syndact... |
OMIM:613573 |
| Van Maldergem Syndrome 2 |
|
Osteopenia, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Cutaneous syndactyl... |
OMIM:615546 |
| Adams-Oliver Syndrome 6 |
|
Syndactyly, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly... |
OMIM:616589 |
| Acrorenal-Mandibular Syndrome |
|
Micrognathia, Hemivertebrae, Narrow chest, Hypoplasia of the ulna, Split hand, Split foot, Toe sy... |
OMIM:200980 |
| Aicardi-Goutieres Syndrome 6 |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Irritability, Loss of ambulation, Thrombocytopenia |
OMIM:615010 |
| Isolated Agammaglobulinemia |
|
Sinusitis, Abnormality of neutrophils, Clinodactyly of the 5th toe, Thrombocytopenia, Arthritis, ... |
ORPHA:229717 |
| Distal Deletion 13Q |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Optic atrophy, Abnormal form of the ver... |
ORPHA:1590 |
| Wildervanck Syndrome |
|
Facial palsy, Short neck, Low posterior hairline, Fused cervical vertebrae, Pseudopapilledema, Le... |
ORPHA:3456 |
| Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Microcornea, Long hallux, Iris coloboma, Broad... |
ORPHA:2308 |
| Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Hypercalcemia, Fr... |
OMIM:602080 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Fibular hypopla... |
OMIM:201170 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Joint laxity, Syndactyly, Ventricular septal defect, Polydactyly, Leukemia |
OMIM:602501 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Arachnodactyly, Overlapping toe, Hypospadias, Micrognathia, Metatarsus adductus, Short thumb, Tho... |
ORPHA:436003 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Narrow chest, Hepatic fibrosis, Atri... |
OMIM:263520 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Mesenteric cyst, Overlapping toe, Ventricular septal defect, Parachute mitral valve, Hy... |
OMIM:618316 |
| Lathosterolosis |
|
Bilobate gallbladder, Micrognathia, Increased mean platelet volume, Lumbosacral meningocele, Acan... |
OMIM:607330 |
| Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Accelerated skeletal maturation, Optic atrophy, Reduc... |
ORPHA:561 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Sacral dimple, Hyperactivity, Short proximal phalanx of... |
ORPHA:261323 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Progressive muscle weakness, Ragged-red muscle fibers |
OMIM:619024 |
| Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
| Cranioectodermal Dysplasia 2 |
|
Cholangitis, Micrognathia, Short neck, Renal cyst, Narrow chest, Atrial septal defect, Sparse hai... |
OMIM:613610 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Papilledema, Hepatosplenomeg... |
ORPHA:2072 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced myoglobinuria, Hepatocellular... |
OMIM:201475 |
| Crane-Heise Syndrome |
|
Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Hypoplasi... |
ORPHA:1512 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
| Tarp Syndrome |
|
Extramedullary hematopoiesis, Single transverse palmar crease, Micrognathia, Atrial septal defect... |
ORPHA:2886 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Optic disc hypoplasia, Congenital malformation of the left heart, Wide penis, Synophr... |
ORPHA:3455 |
| Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
| 3Mc Syndrome 3 |
|
Sacral dimple, Corneal opacity, Highly arched eyebrow, Preaxial polydactyly, Horseshoe kidney, Mi... |
OMIM:248340 |
| Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Absent eyebrow, Cardiomegaly, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger sy... |
ORPHA:158687 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Aspartylglucosaminuria |
|
Mandibular prognathia, Hepatomegaly, Aspartylglucosaminuria, Abnormal morphology of ulna, Joint s... |
ORPHA:93 |
| Spinocerebellar Ataxia 28 |
|
Lower limb hypertonia, Ragged-red muscle fibers, Dystonia, Ophthalmoparesis |
OMIM:610246 |
| Congenital Disorder Of Glycosylation, Type Id |
|
Long fingers, Flexion contracture, Optic atrophy, Talipes equinovarus, Arthrogryposis multiplex c... |
OMIM:601110 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Micrognathia, Thrombocytopenia, Delayed skeletal matur... |
OMIM:614857 |
| Muscular Dystrophy, Becker Type |
|
Cardiomyopathy, Arrhythmia, Abnormal EKG, Elevated circulating creatine kinase concentration |
OMIM:300376 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Alopecia, Toe syndactyly, Abnormal dental enamel morphology, Highly arched eye... |
ORPHA:3253 |
| Blount Disease |
|
Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the... |
ORPHA:2768 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib morphology, A... |
ORPHA:2021 |
| Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Fatiguable weakness of proximal limb muscles... |
ORPHA:206569 |
| Oncogenic Osteomalacia |
|
Hyperphosphaturia, Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysp... |
ORPHA:352540 |
| Alexander Disease |
|
Microcoria, Ataxia, Dysmetria |
OMIM:203450 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Arachnodactyly, Long palm, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of... |
ORPHA:2759 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Mandibular prognathia, Tapered finger, Optic atrophy, Small hand, Low posterior hairline, Hip dys... |
OMIM:618672 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Cataract, Inability to walk, Optic atrophy, Talipes equinovarus, Scoliosis, Joint contracture |
OMIM:617481 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Retinal detachment, Short femur, Rhizomelia, Sandal gap, Hypospadias, Hypoplasia o... |
OMIM:607143 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
| Van Maldergem Syndrome 1 |
|
Osteopenia, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Cutaneous finger sy... |
OMIM:601390 |
| Autosomal Dominant Omodysplasia |
|
Short humerus, Hypoplasia of penis, Rhizomelia, Micrognathia, Elbow dislocation, Patellar disloca... |
ORPHA:93328 |
| Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
| Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Postaxial polyd... |
OMIM:619879 |
| Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Corneal neov... |
ORPHA:163934 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... |
ORPHA:1422 |
| Dk Phocomelia Syndrome |
|
Phocomelia, Thrombocytopenia |
OMIM:223340 |
| Contractural Arachnodactyly, Congenital |
|
Osteopenia, Bicuspid aortic valve, Micrognathia, Short neck, Pectus carinatum, Knee flexion contr... |
OMIM:121050 |
| Diamond-Blackfan Anemia |
|
Pure red cell aplasia, Micrognathia, Short neck, Low anterior hairline, Reticulocytopenia, Leukop... |
ORPHA:124 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micrognathia, Hyperlordosis, Joint stiffness, Low pos... |
ORPHA:1323 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Delayed closure of the anterior fontanelle, Abnormal thorax morphology, Hip dislocation, Fibular ... |
OMIM:605274 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Syndactyly, Enamel hypoplasia |
OMIM:226700 |
| Spastic Paraplegia 5A, Autosomal Recessive |
|
Cataract, Urinary incontinence, Optic atrophy, Upper limb amyotrophy, Abnormal circulating choles... |
OMIM:270800 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Cataract, Sclerocornea, Micrognathia, Short neck, Pigmentary retino... |
OMIM:614230 |
| Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
| Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... |
ORPHA:2347 |
| Gracile Bone Dysplasia |
|
Asplenia, Flared metaphysis, Hypoplastic spleen, Thin ribs, Slender long bone, Hypocalcemia, Anir... |
OMIM:602361 |
| 6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Finger syndactyly, Clinodactyly |
ORPHA:251046 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Autoamputation of digits, Hyperactivity, Neuropathic arthropathy, Osteomyeliti... |
OMIM:256800 |
| Aspergillosis |
|
Sinusitis, Osteomyelitis, Eosinophilia, Keratitis, Abnormal rib morphology, Vitritis, Hepatitis, ... |
ORPHA:1163 |
| Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter, Athetosis |
OMIM:617235 |
| Mevalonic Aciduria |
|
Elevated hepatic transaminase, Optic disc pallor, Normocytic hypoplastic anemia, Cataract, Ataxia... |
OMIM:610377 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Facial palsy, Gowers sign, Myopathy, Muscular dystrophy, Increased endomysial connective tissue, ... |
OMIM:602541 |
| Hec Syndrome |
|
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract, Cardiomy... |
ORPHA:2119 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Metaphyseal widening, Tibial bowing, Barrel-shaped chest, Iris atrophy, Osteoporosis,... |
OMIM:259770 |
| Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, Atrial septal defect, Phocom... |
OMIM:268300 |
| Becker Nevus Syndrome |
|
Micromelia, Supernumerary nipple, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusi... |
ORPHA:64755 |
| Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Sinus tachycardia, Elevated circulating creatine kinase concentration, Ata... |
ORPHA:466650 |
| Cerebrofacioarticular Syndrome |
|
Osteopenia, Syndactyly, Hypospadias, Ataxia, Micrognathia, Hypoplasia of the maxilla, Renal hypop... |
ORPHA:314679 |
| Neurofibromatosis Type 1 |
|
Pheochromocytoma, Chorioretinal coloboma, Heterochromia iridis, Spinal neurofibroma, Genu varum, ... |
ORPHA:636 |
| Osteopathia Striata With Cranial Sclerosis |
|
Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, Atrial septal defect, Clinodactyl... |
OMIM:300373 |
| Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Polyhydram... |
ORPHA:783 |
| Opsismodysplasia |
|
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... |
OMIM:258480 |
| Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
| Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Optic disc pallor, Thick eyebrow, Ventricular septal defect, Single transverse... |
OMIM:618950 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasi... |
OMIM:276820 |
| Brody Disease |
|
Skeletal muscle hypertrophy, Flexion contracture, Muscle weakness |
OMIM:601003 |
| Braddock-Carey Syndrome 2 |
|
Clinodactyly, Retrognathia, Thrombocytopenia |
OMIM:619981 |
| Mannosidosis, Alpha B, Lysosomal |
|
Mandibular prognathia, Hepatomegaly, Thick eyebrow, Splenomegaly, Increased vertebral height, Vac... |
OMIM:248500 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypoplasia of penis, Multiple pterygia, Micrognathia, Symphalangism affecting the phalanges of th... |
ORPHA:2990 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Epispadias, Abnormal finger morphology, Symphalangism affecting the phalan... |
ORPHA:2658 |
| Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Hyperactivity, Thickened ribs, Kyphoscoliosis, Joint stiffness, Heparan sulfate exc... |
OMIM:252930 |
| Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S... |
OMIM:200610 |
| Oculodentodigital Dysplasia |
|
Dry hair, Clinodactyly, Uveitis, Microcornea, Joint contracture of the 5th finger, Atrial septal ... |
OMIM:164200 |
| Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Lo... |
OMIM:180849 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micrognathia, Lateral clavicle hook, Short neck, Preaxial polydactyly, Long thorax, Narrow greate... |
OMIM:617925 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Syndactyly, Ataxia, Inability to walk, Dysmetria, Sparse hair, Clinodactyl... |
OMIM:618087 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... |
ORPHA:848 |
| Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Polyhydramnios, Short phalanx of finger, Broad metacarpals, Hypoplastic... |
ORPHA:56304 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee... |
OMIM:151050 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Talipes equinovarus, Joint hypermobility, Camptodactyly |
OMIM:617333 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Congenital bilateral hip dislocation, Syndactyly |
ORPHA:404451 |
| Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Elevated he... |
ORPHA:398124 |
| Rippling Muscle Disease 1 |
|
Skeletal muscle hypertrophy |
OMIM:600332 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Renal cyst, Narrow greater sciatic notch, Narrow chest, Short tibia, Unicor... |
OMIM:616300 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Mandibular prognathia, Hip contracture, Kyphosis, Inability to walk, Unsteady gait, Optic atrophy... |
OMIM:618493 |
| Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Optic atrophy, Hepatosplenomegaly, Gait ataxia, Progressive cerebellar ata... |
ORPHA:466794 |
| Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Genu recurvatum, Corneal opacity, Ataxia, Palmoplantar kerat... |
ORPHA:578 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Micrognathia, Synophrys, Vesicoureteral reflux, Abnormal vertebral morphology, Patent foramen ova... |
ORPHA:444077 |
| Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Cutaneous finger syndactyly, Megaloc... |
OMIM:211380 |
| Cerebellar-Facial-Dental Syndrome |
|
Cataract, Ventricular septal defect, Single transverse palmar crease, Foot joint contracture, Tap... |
ORPHA:444072 |
| Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Inability to walk, Optic atrophy, Irritability, Athetosis, Gait disturbance, Scoliosis, Loss of a... |
OMIM:618241 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Hepatic steatosis, Cataract, Rhizomelia, Ataxia, Micrognathia, Brachioradialis areflexia, Trismus... |
OMIM:616271 |
| Pseudohypoparathyroidism Type 1A |
|
Short neck, Short metatarsal, Reduced bone mineral density, Choreoathetosis, Conjunctivitis, Hypo... |
ORPHA:79443 |
| Nathalie Syndrome |
|
Abnormal EKG, Cataract |
OMIM:255990 |
| Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Unilateral renal agenesis, Micrognathia,... |
ORPHA:245 |
| Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Micropenis, Dysplas... |
OMIM:134780 |
| Vacterl/Vater Association |
|
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Abnormal inter... |
ORPHA:887 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Poor head control, Single transverse palmar crease, Tapered finger, Type 1 muscle fiber predomina... |
OMIM:612949 |
| Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Micrognathia, Short neck, Pectus carinatum, Vertebral segmentation defect, A... |
ORPHA:1507 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Abnormality ... |
OMIM:607634 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Unilateral renal agenesis, Short neck, Abnormal rib morphology, Low posterior hairline, Scoliosis... |
OMIM:118100 |
| Prader-Willi Syndrome |
|
Osteopenia, Short palm, Micropenis, Iris hypopigmentation, Syndactyly, Acromicria, Osteoporosis, ... |
OMIM:176270 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Mandibular prognathia, Finger syndactyly, Single transverse palmar crease, Ankle flexion contract... |
ORPHA:435938 |
| Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Short neck, Thoracic dysplasia, Narrow chest, Short palm, Patent foramen oval... |
OMIM:269860 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Alopecia, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Abnorm... |
ORPHA:1005 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Hyperactivity, Cataract, Short neck, Pectus excavatum, Palmar pits, Ky... |
ORPHA:77301 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Micrognathia, Flexion contracture, Calcinosis, Hepatomegaly, Alopecia, Hypoplasia of ... |
OMIM:248370 |
| Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
2-3 finger syndactyly |
ORPHA:1338 |
| Peroxisome Biogenesis Disorder 8B |
|
Cataract, Retinal dystrophy, Ataxia, Unsteady gait, Optic atrophy, Elevated circulating phytanic ... |
OMIM:614877 |
| Gm1 Gangliosidosis Type 1 |
|
Spatulate ribs, Cherry red spot of the macula, Pectus carinatum, Hepatosplenomegaly, Cardiomyopat... |
ORPHA:79255 |
| Qazi-Markouizos Syndrome |
|
Cryptorchidism, Delayed ossification of carpal bones, Hypoplasia of teeth, Tapered finger |
ORPHA:3010 |
| Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Atrial fibrillation, Craniosynostosis... |
ORPHA:525731 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Conical incisor, Cutaneous finger syndactyly, Hypoalbuminemia, Hypoplastic iliac ... |
OMIM:235510 |
| Congenital Myopathy 22B, Severe Fetal |
|
Thoracic scoliosis, Micrognathia, Short neck, Synophrys, Flexion contracture, Waddling gait, Hepa... |
OMIM:620369 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Craniosynostosi... |
ORPHA:794 |
| Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Microretrognathia, Joint dislocation, Joint laxity, Aggressive behavior, Short clavicles, Short 4... |
OMIM:606220 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Facial palsy, Duplication of thumb phalanx, Short thumb, An... |
OMIM:616435 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy... |
OMIM:617228 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Single transverse palmar crease, Micrognathia, Biliary hyperplasia, Coa... |
ORPHA:83617 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Highly arched eyebrow, Synophrys, Microcornea, Polydactyly, Clinodactyly, Reti... |
ORPHA:313781 |
| Harrod Syndrome |
|
Multicystic kidney dysplasia, Cataract, Arachnodactyly, Hypospadias, Kyphosis, Dental malocclusio... |
ORPHA:2115 |
| Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 |
|
Optic disc pallor, Restlessness, Broad hallux, Elevated circulating hexacosanoic acid concentrati... |
OMIM:614388 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Decreased nerve conduction velocity, Thrombocytopenia, Unsteady gait, Acute... |
OMIM:159550 |
| Floating-Harbor Syndrome |
|
Enlarged joints, Short neck, Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Humeral pse... |
ORPHA:2044 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Abnorm... |
ORPHA:2636 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte... |
OMIM:216340 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Synophrys, Low anterior hairline, Atrial s... |
OMIM:613458 |
| Hsd10 Disease, Infantile Type |
|
Restlessness, Cardiomegaly, Optic atrophy, Hyperammonemia, Choreoathetosis, Dysphagia, Abnormal c... |
ORPHA:391428 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Mirage Syndrome |
|
Hyponatremia, Hypospadias, Rocker bottom foot, Radial club hand, Thrombocytopenia, Hyperkalemia, ... |
OMIM:617053 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic... |
ORPHA:42 |
| Filippi Syndrome |
|
Finger syndactyly, Enlarged epiphyses, Ventricular septal defect, Supernumerary nipple, Delayed s... |
ORPHA:3255 |
| Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruptio... |
OMIM:182250 |
| Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac... |
OMIM:277900 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Toe syndactyly, Arachnodactyly, Cryptorchidism, Protruding ear, Low-set ears, ... |
ORPHA:73246 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Renal insufficiency, Thrombocytopenia, Optic atrophy, Hyperammonemia, Renal tubular... |
ORPHA:289916 |
| 17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Synophrys, Self-injurious behavior, Atrial septal defect, Abno... |
ORPHA:261272 |
| Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Hypoplasia of the maxilla, Abnormal hair whorl, Optic atrophy, Vesicou... |
OMIM:614261 |
| Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux |
OMIM:263630 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Joint stiffness, Split hand, Abnormal rib morpho... |
ORPHA:1300 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Single transverse palmar crease, Elevated circulating creatine ki... |
OMIM:619743 |
| Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Optic atrophy, Dysmetr... |
OMIM:617302 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Genu recurvatum, Optic atrophy, Reduced bone mineral density, Slender long bone, Coarse hair, Joi... |
ORPHA:1185 |
| Meckel Syndrome |
|
Ureteral duplication, Sclerocornea, Micrognathia, Asplenia, Microcornea, Urethral atresia, Access... |
ORPHA:564 |
| Kinsship Syndrome |
|
Osteopenia, Mandibular prognathia, Single transverse palmar crease, Micrognathia, Short neck, Syn... |
OMIM:619297 |
| Cerebrotendinous Xanthomatosis |
|
Osteopenia, Abnormal tibia morphology, Axonal degeneration, Abnormal finger morphology, Abnormal ... |
ORPHA:909 |
| Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Optic disc hypoplasia, Aplastic anemia, Absent thumb, Short neck, Bila... |
OMIM:300514 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Aganglionic megacolon, Pectus excavatum, Abnormality of the pancreas, White hair, Reduced bone mi... |
ORPHA:935 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Brittle hair, Wormian bones, Micrognathia, Hyperlipidemia, Flexion contracture, Stage 5... |
OMIM:608612 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Joint laxity, Hip contracture, Overlapping toe, Genu recurvatum, Flexion contracture, Optic atrop... |
OMIM:617301 |
| Stromme Syndrome |
|
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Micrognathia, Bilateral renal h... |
OMIM:243605 |
| Oculopharyngodistal Myopathy 1 |
|
Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal muscle weakness, External oph... |
OMIM:164310 |
| Neurodevelopmental Disorder With Visual Defects And Brain Anomalies |
|
Ataxia, Optic atrophy, Hip dislocation, Unilateral facial palsy, Astigmatism, Scoliosis, Laryngot... |
OMIM:618547 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, B lymphocytopenia... |
OMIM:618048 |
| Generalized Arterial Calcification Of Infancy |
|
Choroidal neovascularization, Cardiomegaly, Abnormal retinal artery morphology, Abnormal calcific... |
ORPHA:51608 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormality of renal excretion, Bone pain, Coxa vara, Tibial bowing, Enthesitis, Hypocalcemic tet... |
ORPHA:289176 |
| Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
| Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Posteriorly rotated ears, Edema, Micrognathia, Pericardial effusion, Cutaneous s... |
OMIM:617822 |
| Ellis Van Creveld Syndrome |
|
Micromelia, Epispadias, Conical incisor, Narrow chest, Atrial septal defect, Atrioventricular can... |
ORPHA:289 |
| Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Single transverse palmar crease, Dextrocardia, Micrognathia, Thoracolumbar scol... |
ORPHA:2437 |
| Marshall Syndrome |
|
Retinal detachment, Cataract, Sparse eyelashes, Micrognathia, Hypoplasia of the maxilla, Sparse e... |
ORPHA:560 |
| Cole-Carpenter Syndrome 2 |
|
Osteopenia, Microretrognathia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kypho... |
OMIM:616294 |
| Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Abnormal preputium morpho... |
ORPHA:2907 |
| Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, M... |
OMIM:300855 |
| Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hepatomegaly, Peripheral axonal neuropathy, Hyperactivity, Ve... |
OMIM:615673 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Micrognathia, Calcaneo... |
ORPHA:3078 |
| Recon Progeroid Syndrome |
|
Joint laxity, Prominence of the premaxilla, Arachnodactyly, Proximal placement of thumb, Thromboc... |
OMIM:620370 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint dislocation, Congenital hip dislocation, Microcornea, Keratoconus, Joint laxity... |
OMIM:225400 |
| Cardiospondylocarpofacial Syndrome |
|
Short palm, Conductive hearing impairment, Failure of eruption of permanent teeth, Synostosis of ... |
ORPHA:3238 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Hypospadias, Attention deficit hyperactivity disorder, Cli... |
OMIM:619736 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology |
ORPHA:1506 |
| Preeclampsia |
|
Elevated hepatic transaminase, Proteinuria, Chronic kidney disease, Elevated circulating creatini... |
ORPHA:275555 |
| 8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Underfolded helix, Abnormal pinna morphol... |
ORPHA:178303 |
| Muscular Dystrophy, Cardiac Type |
|
Cardiomyopathy, Abnormal EKG, Elevated circulating creatine kinase concentration, Carnosinuria |
OMIM:309930 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Brachydactyly, Hypoplasia of penis, Joint stiffness, Synophrys, Genu valgum, Hypoplasia of the zy... |
ORPHA:1295 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,... |
OMIM:602196 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Distal muscle weakness, Rhabdomyolysis, Ophthalmoparesis, Myopathy, Incr... |
OMIM:255125 |
| Porphyria, Congenital Erythropoietic |
|
Osteopenia, Conjunctivitis, Hepatomegaly, Alopecia, Absent eyebrow, Hemolytic anemia, Corneal sca... |
OMIM:263700 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Peripheral axonal neuropath... |
OMIM:205400 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Cholelithiasis, Malar flattening, Tapered finger, Hyperlordosis, Abnormal repetitiv... |
OMIM:301066 |
| Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Proximal placement of thumb, Short neck, Low anterior hairline, Atrial sep... |
OMIM:601808 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Abnormal curvature of the vertebral column, Compulsive behaviors, Vesicour... |
ORPHA:353281 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Single transverse palmar crease, Short neck, Tibial bowing, Hypo... |
OMIM:269150 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Sinusitis, Hypertriglyceridemia, Splenomegaly, Throm... |
OMIM:617591 |
| Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Micrognathi... |
OMIM:263750 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent metopic ridge, Corneal opacity, Delayed peripheral myelination, Aplasia of the distal p... |
ORPHA:364577 |
| Roifman-Chitayat Syndrome |
|
Osteopenia, Short metacarpal, Ectopic kidney, Short neck, Optic atrophy, Short metatarsal, Cone-s... |
OMIM:613328 |
| Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
| Dextrocardia |
|
Abnormal EKG, Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormality of th... |
ORPHA:1666 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormality of the liver, Hyp... |
ORPHA:85443 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:98855 |
| Adams-Oliver Syndrome 2 |
|
Alopecia, Single transverse palmar crease, Micrognathia, Optic atrophy, Low anterior hairline, De... |
OMIM:614219 |
| Wagro Syndrome |
|
Mandibular prognathia, Cataract, Proteinuria, Corneal opacity, Micrognathia, Aggressive behavior,... |
OMIM:612469 |
| Kaufman Oculocerebrofacial Syndrome |
|
Optic disc pallor, Atrial septal defect, Congenital hip dislocation, Long palm, Single transverse... |
OMIM:244450 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Protruding ear, Clinodactyl... |
OMIM:268305 |
| Kindler Epidermolysis Bullosa |
|
Urethral stricture, Finger syndactyly, Corneal opacity, Camptodactyly of finger, Abnormal dental ... |
ORPHA:2908 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Neurogenic bladder, Congenital hip dislocation, Ataxia, Elevated circulating creatine kinase conc... |
ORPHA:496641 |
| Paramyotonia Congenita |
|
Skeletal muscle hypertrophy, Muscle weakness |
OMIM:168300 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, C... |
OMIM:256040 |
| Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Micromelia, Micrognathia, Short neck, Hypoplasia of the radius, Abn... |
ORPHA:3015 |
| Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
| Trisomy 1Q |
|
Microretrognathia, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of... |
ORPHA:261344 |
| Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Micrognathi... |
ORPHA:263508 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Urethral stricture, Alopecia, Pancytopenia, Aplastic anemia, Ataxia, Avascular necrosis of the ca... |
OMIM:613990 |
| Pseudohypoparathyroidism Type 1C |
|
Short neck, Short metatarsal, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Broad distal pha... |
ORPHA:79444 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Decreased hemoglobin concentration, Decreased heart rate variability, Highly arched... |
OMIM:619005 |
| Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Proteinuria, Ataxia, Micrognathia, Op... |
OMIM:251300 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Short stature, Proximal muscle weakness, Tremor, Gowers sign, Increased variability in muscle fib... |
ORPHA:502423 |
| Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Papilledema, Abnormality of retinal pigmentation, Hepatomegaly, Abnorm... |
OMIM:309900 |
| Hajdu-Cheney Syndrome |
|
Wormian bones, Micrognathia, Absent frontal sinuses, Cryptorchidism, Dental malocclusion, Osteoly... |
OMIM:102500 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Patent ductus arteriosus, Aplasia/Hypoplasi... |
ORPHA:1112 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Peripheral axonal neuropathy, Ataxia, Tapered finger, Flexion contracture, Optic atrophy, Dysmetr... |
OMIM:616505 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Laterally extended eyebrow, Short 2nd finger, Sandal gap, Broad hallux, Ventricular septal defect... |
OMIM:600987 |
| Marbach-Rustad Progeroid Syndrome |
|
Femur fracture, Delayed eruption of primary teeth, Micrognathia, Ventricular septal hypertrophy, ... |
OMIM:619322 |
| Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Small hand, Leukocoria, Sh... |
ORPHA:2714 |
| Poems Syndrome |
|
Sclerosis of hand bone, Papilledema, Thrombocytosis, Sclerosis of foot bone, Metaphyseal sclerosi... |
ORPHA:2905 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Absent radius, Urethral ... |
OMIM:314390 |
| Aicardi-Goutieres Syndrome 3 |
|
Elevated hepatic transaminase, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Endocrine-Cerebroosteodysplasia |
|
Barrel-shaped chest, Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Si... |
OMIM:612651 |
| Transaldolase Deficiency |
|
Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Telangiectasia, Abnormal circula... |
ORPHA:101028 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Clinodactyl... |
ORPHA:1606 |
| Cardiospondylocarpofacial Syndrome |
|
Pseudoepiphyses, Atrial septal defect, Vesicoureteral reflux, Patent foramen ovale, Joint laxity,... |
OMIM:157800 |
| Trisomy 18 |
|
Microretrognathia, Abnormality of retinal pigmentation, Cataract, Ventricular septal defect, Camp... |
ORPHA:3380 |
| Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Calcinosis, Increased bone mineral density, Prolonged QT interval, Cat... |
ORPHA:94089 |
| Olmsted Syndrome 1 |
|
Autoamputation of digits, Corneal opacity, Flexion contracture, Palmoplantar keratoderma, Nail dy... |
OMIM:614594 |
| Systemic Lupus Erythematosus 17 |
|
Alopecia, Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral r... |
OMIM:301080 |
| X Small Rings |
|
Joint laxity, Toe syndactyly, Bicuspid aortic valve, Mitral stenosis, Ventricular septal defect, ... |
ORPHA:96201 |
| Dpagt1-Cdg |
|
Flexion contracture, Intracranial hemorrhage, Diffuse optic disc pallor, Hepatomegaly, Arachnodac... |
ORPHA:86309 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat... |
ORPHA:158057 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Wide cranial sutures, Short femur, Metaphyseal spurs, Unilateral renal agenesis, Recu... |
OMIM:618188 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Hypoplasia of the maxilla, Sparse eyebrow, Widow's peak, Abnormal eyel... |
ORPHA:2399 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Osteopenia, Bull's eye maculopathy, Choreoathetosis, Tics, Compulsive behaviors, Loss of ambulati... |
ORPHA:157850 |
| Richieri Costa-Da Silva Syndrome |
|
Decreased muscle mass, Short stature, Diastasis recti, Metatarsus adductus, Genu valgum, Skeletal... |
ORPHA:3101 |
| Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy... |
OMIM:310600 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... |
ORPHA:98863 |
| Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Neutrophilia, Ankle swel... |
ORPHA:3260 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter |
OMIM:617915 |
| Pallister-Hall Syndrome |
|
Ectopic kidney, Hemivertebrae, Renal cyst, Micropenis, Distal shortening of limbs, Syndactyly, Me... |
OMIM:146510 |
| Phacoanaphylactic Uveitis |
|
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... |
ORPHA:209959 |
| Distal 17P13.1 Microdeletion Syndrome |
|
Arachnodactyly, Limited elbow movement, Abnormal hand morphology, Generalized joint laxity, Hypop... |
ORPHA:319171 |
| Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... |
ORPHA:98853 |
| Lig4 Syndrome |
|
Pancytopenia, Low anterior hairline, Telangiectasia, Acute lymphoblastic leukemia, Astigmatism, C... |
OMIM:606593 |
| Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Micrognathia, Optic atrophy, Low anterior hairline, Dystonic gait, Astigmatism, Scoliosis, Promin... |
ORPHA:480898 |
| Muckle-Wells Syndrome |
|
Hepatomegaly, Camptodactyly of finger, Splenomegaly, Vasculitis, Optic atrophy, Uveitis, Nephroti... |
ORPHA:575 |
| Lissencephaly 8 |
|
Cataract, Optic atrophy, Talipes equinovarus, Elevated circulating creatine kinase concentration |
OMIM:617255 |
| Orofaciodigital Syndrome Type 1 |
|
Brittle hair, Micrognathia, Reduced bone mineral density, Coarse hair, Clinodactyly of the 5th fi... |
ORPHA:2750 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Hypospadias, Proximal placement of thumb, Micrognathia, Short neck, Cardiomyopathy, A... |
OMIM:217980 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Unilateral renal agenesis, Pectus excavatum, Muscular ventricular septal defect, Spina bifida occ... |
OMIM:619227 |
| Rett Syndrome |
|
Kyphosis, Gait apraxia, Truncal ataxia, Gait ataxia, Short foot, Scoliosis, Bruxism, Abnormal T-w... |
OMIM:312750 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy... |
OMIM:231095 |
| Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... |
OMIM:177650 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... |
OMIM:616866 |
| Myotonia Congenita, Autosomal Recessive |
|
Skeletal muscle hypertrophy, Muscle hypertrophy of the lower extremities, Muscle weakness |
OMIM:255700 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Thick eyebrow, Symblepharon, Short neck, Delayed skeletal maturation, Small hand, Abn... |
ORPHA:488434 |
| Native American Myopathy |
|
Skeletal muscle atrophy, Short stature, Abnormality of skeletal muscle fiber size, Congenital con... |
ORPHA:168572 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Absent lower eyelashes, Hy... |
OMIM:154400 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Hyperactivity, Prominent metopic ridge, Overlapping toe, Single transv... |
OMIM:619148 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Overlapping toe, Hypospadias, Proximal placement of thumb, Tapered finger, Unilateral renal agene... |
ORPHA:487796 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Thrombocytopenia, Leukopenia, Attention deficit hyperactivity disorder, L... |
OMIM:619151 |
| Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Albinism, Carious teeth, Splenomegaly, Decreased CD... |
OMIM:608233 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia, Tapered finger, Repetitive compulsive... |
ORPHA:401777 |
| 2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Multicystic kidney dysplasia,... |
ORPHA:1001 |
| Craniolenticulosutural Dysplasia |
|
Osteopenia, Delayed eruption of teeth, Joint laxity, Brittle hair, Delayed closure of the anterio... |
OMIM:607812 |
| Srd5A3-Cdg |
|
Elevated hepatic transaminase, Cataract, Optic disc hypoplasia, Ataxia, Microcytic anemia, Abnorm... |
ORPHA:324737 |
| Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crea... |
OMIM:272950 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Stenosis of the medullary cavity of the long bones, Delayed cranial suture closure, ... |
ORPHA:93325 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
Mandibular prognathia, Optic disc pallor, Ataxia, Talipes equinovarus, Adducted thumb |
OMIM:612936 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Optic atrophy, Joint hyperflexibil... |
ORPHA:60040 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Atrial septal defect, Cataract, Ventricular se... |
OMIM:220500 |
| Bardet-Biedl Syndrome |
|
Medial flaring of the eyebrow, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplas... |
ORPHA:110 |
| Coxoauricular Syndrome |
|
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... |
ORPHA:1508 |
| Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Straight clavicles, Short clavicles, Multiple impacted teeth,... |
OMIM:113300 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
| Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Micrognathia, Ectopic kidney, Renal cyst, Atrial septal defect, Clino... |
OMIM:117650 |
| Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Elevated circulating creatine kinase concentration, Pectus excavatum, Bulimia,... |
ORPHA:314389 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Severe temper tantrums, Ataxia, Aggressive behavior, Optic atrophy, Dysmetria, Cardiomyopathy, At... |
OMIM:617710 |
| Griscelli Syndrome |
|
Hepatomegaly, Abnormal eyebrow morphology, Ataxia, Abnormality of neutrophils, Abnormal eyelash m... |
ORPHA:381 |
| Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
| 3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate ... |
OMIM:610198 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Pseudopapilledema |
OMIM:314600 |
| Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... |
OMIM:123320 |
| Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Micrognathia, Optic atrophy, Low anterior hairline, Astigmatism, Scoliosis, Prominent fingertip p... |
OMIM:616875 |
| Oliver Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Elbow flex... |
ORPHA:2920 |
| Muenke Syndrome |
|
Tarsal synostosis, Sensorineural hearing impairment, Cone-shaped epiphysis, Short foot, Short pal... |
ORPHA:53271 |
| Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Thrombocytopenia, Cerebell... |
OMIM:606054 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Progressive muscle weakness, Gowers sign, Ragged-red muscle fibers, Generalized... |
OMIM:600462 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Self-mutilation, Hepatomegaly, ... |
OMIM:619487 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,... |
OMIM:610682 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Single transverse palmar crease, Secundum atrial septal defect, Pectus carinatum, Leukopenia, Hyp... |
OMIM:612541 |
| Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, Intracranial hemorrhage, Anisocoria, Male urethral meatus stenosis, ... |
OMIM:613406 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Micrognathia, Renal cyst, Neutropenia, Vesicoureteral reflux, Joint contrac... |
OMIM:618460 |
| Cockayne Syndrome |
|
Dry hair, Urinary incontinence, Congenital contracture, Retinal arteriolar constriction, Lentiglo... |
ORPHA:191 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Osteopenia, Syndactyly, Short digit, Microretrognathia, Sparse scalp hair, Proximal placement of ... |
OMIM:615789 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Knee osteoarthrit... |
ORPHA:1304 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
| Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
| Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... |
ORPHA:263479 |
| Malan Overgrowth Syndrome |
|
Optic disc pallor, Optic disc hypoplasia, Accelerated skeletal maturation, Pectus excavatum, Low ... |
ORPHA:420179 |
| Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Irritability, Athetosis, Neutropenia,... |
OMIM:229050 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Kyphoscoliosis, Aggressive behavior, Anorexia, Congestive heart ... |
ORPHA:3077 |
| Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Absent thumb, Short thumb, Thrombocytopenia, Hypoplasia of the radius, 2-3 finger ... |
OMIM:603467 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Microangiopa... |
ORPHA:54057 |
| Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Ataxia, Thick hair, Hepatosplenome... |
ORPHA:263501 |
| Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Single transverse palmar crease, Micrognathia, Short neck, Sparse ha... |
OMIM:305450 |
| Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing, Platyspondyly, Scol... |
OMIM:126550 |
| Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Hypoplasia of penis, Micromelia, Aplasia of the ulna, Mi... |
ORPHA:2879 |
| X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula... |
ORPHA:54 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Anorexia, Hypersplenism, Thromboc... |
ORPHA:98850 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Low posterior hairline, Astigmatism, Long... |
OMIM:617523 |
| Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Camptodactyly of finger, Overlapping toe, Postnatal growth retardation,... |
OMIM:300963 |
| Autosomal Dominant Cutis Laxa |
|
Osteopenia, Aortic regurgitation, Joint laxity, Genu recurvatum, Corneal opacity, Unilateral rena... |
ORPHA:90348 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Congestive heart failure, Unsteady gait, Optic atrophy, Limb ataxia, Depres... |
OMIM:619259 |
| Knobloch Syndrome 1 |
|
Retinal detachment, Optic disc pallor, Ataxia, Band keratopathy, Chorioretinal atrophy, Spina bif... |
OMIM:267750 |
| Smith-Kingsmore Syndrome |
|
Curly hair, Rhizomelia, Short proximal phalanx of finger, Thrombocytopenia, Deep palmar crease, T... |
OMIM:616638 |
| Catel-Manzke Syndrome |
|
Joint dislocation, Single transverse palmar crease, Micrognathia, Short neck, Pectus carinatum, C... |
OMIM:616145 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Micrognathia, Abnormal curvature of the vertebral column, Compulsive behav... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Micrognathia, Abnormal curvature of the vertebral column, Compulsive behav... |
ORPHA:353277 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Alopecia, Toe syndactyly, Hypospadias, Short hallux, Supernumerary nipple, Abn... |
ORPHA:3224 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
| Peters-Plus Syndrome |
|
Ureteral duplication, Single transverse palmar crease, Limited elbow movement, Proximal placement... |
OMIM:261540 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Ventricular septal defect, Absent thumb, Absent radius, Short thumb, Ectopic kidney... |
OMIM:227645 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... |
OMIM:308240 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Hepatomegaly, Thoracic scoliosis, Recurrent fractures, Elevated circulating aspartate aminotransf... |
OMIM:606056 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Absent gallbladder, Ventricular septal defect,... |
ORPHA:163979 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Micrognathia, Ectopic kidney, Short nec... |
ORPHA:99413 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Elevated circulating creatine kinase concentration, Micrognathia, Cranial nerve compression, Leuk... |
ORPHA:2785 |
| Mosaic Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Micrognathia, Ectopic kidney, Short nec... |
ORPHA:99228 |
| Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Micrognathia, Ectopic kidney, Short nec... |
ORPHA:99226 |
| Turner Syndrome |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Micrognathia, Ectopic kidney, Short nec... |
ORPHA:881 |
| Naxos Disease |
|
Prolonged QRS complex, Cardiomegaly, Sudden cardiac death, Sparse eyebrow, Diffuse palmoplantar h... |
OMIM:601214 |
| Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Hyperactivity, Thickened ribs, Joint stiffness, Heparan sulfate excretion in urine,... |
OMIM:252900 |
| Ring Chromosome 12 Syndrome |
|
Syndactyly, Lumbar hyperlordosis, Pectus excavatum, Secundum atrial septal defect, Abnormal 5th f... |
ORPHA:1439 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Tricuspid regurgitation, Cardiomegaly, Abnormal circulating ceruloplasmin concentrat... |
OMIM:620306 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Sacral dimple, Tricuspid regurgitation, Hypoplastic right heart, Ventricular septal d... |
OMIM:616894 |
| Myoclonic-Astatic Epilepsy |
|
Syndactyly, Hyperactivity, Ataxia, Frontal balding, Unsteady gait, Abnormal emotion, Attention de... |
ORPHA:1942 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Sacral dimple, Sparse scalp hair, Hypospadias, Single tran... |
OMIM:223370 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... |
ORPHA:2438 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, Accelerated skeletal maturation, Depression, Hip dysplas... |
OMIM:618798 |
| Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
| Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
| Lymphatic Malformation 6 |
|
Genital edema, Abnormal pinna morphology, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, ... |
OMIM:616843 |
| Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Bowing of the legs, Heart block, Vertebral segmentation defect, Vesicouretera... |
OMIM:617063 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Osteopetrosis, Anemia |
OMIM:615085 |
| Smith-Mccort Dysplasia 1 |
|
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... |
OMIM:607326 |
| Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Edema, Micrognathia, Polyhydramnios, Low-s... |
OMIM:616038 |
| Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hema... |
OMIM:603903 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Absent eyebrow, Chorioretinal dystrophy, Arachnodactyly, Micrognathia, Optic atrophy, Microcornea... |
ORPHA:2707 |
| Coach Syndrome 1 |
|
Elevated hepatic transaminase, Optic disc pallor, Hepatomegaly, Ataxia, Unilateral renal agenesis... |
OMIM:216360 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... |
OMIM:615008 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... |
OMIM:278000 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... |
OMIM:614921 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Carious teeth, Finger syndactyly, Conductive hearing impairment |
ORPHA:1997 |
| Peters Plus Syndrome |
|
Ureteral duplication, Micromelia, Micrognathia, Short neck, Bicuspid pulmonary valve, Microcornea... |
ORPHA:709 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Anterior rib cupping, Thrombocytopenia, Metaphyseal widening, Ex... |
OMIM:617941 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Overriding aorta, Carious teeth, Hypoplasia of the zygomatic bone, Abnorma... |
ORPHA:1110 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Abnorma... |
ORPHA:3121 |
| Focal Dermal Hypoplasia |
|
Ureteral duplication, Congenital hip dislocation, Brittle hair, Osteopathia striata, Short metata... |
OMIM:305600 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
| Alkaptonuria |
|
Arthropathy, Vertebral fusion, Mitral valve calcification, Low back pain, Aortic valve calcificat... |
OMIM:203500 |
| Short Stature-Micrognathia Syndrome |
|
Rhizomelia, Short stature, Bowing of the legs, Coxa valga, Metaphyseal widening, 2-3 toe syndacty... |
OMIM:617164 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Sparse scalp hair, Micr... |
ORPHA:85201 |
| Joubert Syndrome 14 |
|
Ventricular septal defect, Ataxia, Morning glory anomaly, Postaxial polydactyly, Highly arched ey... |
OMIM:614424 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pectus excavatum, Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Short neck, Splenomegaly, Synophrys, Throm... |
OMIM:606003 |
| Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly, Hypersplenism, Splenomegaly, Portal vein thrombosis, Pulmonic stenosis... |
OMIM:616028 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... |
OMIM:617021 |
| Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Abnormal eyelash morphology, Optic atrophy, Low posterior hairline, Joint hype... |
ORPHA:1252 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Oligosacchariduria, Cardiomegaly |
ORPHA:3137 |
| Deeah Syndrome |
|
Hepatomegaly, Cervical hemivertebrae, Decreased hemoglobin concentration, Decreased heart rate va... |
OMIM:619004 |
| Felty Syndrome |
|
Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Thrombocytopenia, Abnormal joint morphology,... |
ORPHA:47612 |
| Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molec... |
OMIM:219800 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Nephrotic syndrome, Le... |
OMIM:617713 |
| Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Prominent metopic ridge, Micrognathia, As... |
OMIM:617746 |
| Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Mandibular prognathia, Low posterior hairline, Genu valgum, Joint hyperflexibility, Hypoplasia of... |
ORPHA:1778 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Bicuspid aortic valve, Arachnodactyly, Transient ischemic attack, Cardiomeg... |
ORPHA:91387 |
| Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
| Severe Congenital Nemaline Myopathy |
|
Hypospadias, Facial palsy, Multiple prenatal fractures, Abnormal thorax morphology, Flexion contr... |
ORPHA:171430 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Cutaneous syndactyly, Palmoplantar kera... |
ORPHA:2890 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Absent thumb, Absent radius, Short thumb, Ectopic kidney, Thrombocytopenia, Reticul... |
OMIM:600901 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Respiratory insufficiency due to muscle weakness, Elbow flexion contra... |
OMIM:619461 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly, Abnormality of retinal pigmentation, Supernumerary nipple, Patchy atrophy of t... |
ORPHA:1433 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
| Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... |
ORPHA:99106 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Uveitis, Conjunctivitis, Sparse hair, Abnormal vertebral morphology, Absent eyebrow, Alopecia, Ab... |
ORPHA:2273 |
| Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti... |
OMIM:619644 |
| Floating-Harbor Syndrome |
|
Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Atri... |
OMIM:136140 |
| Rhabdoid Tumor |
|
Hypercalcemia, Thrombocytopenia, Hematuria, Hypertension, Irritability, Neoplasm of the liver, In... |
ORPHA:69077 |
| Macrodactyly |
|
Macrodactyly |
OMIM:155500 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Wrist swelling, Bicarbonaturia, Aminoaciduria... |
OMIM:309000 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
| Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Micrognathia, Short neck, Renal cyst, Tibial bowing, Hepatoblastoma... |
ORPHA:798 |
| Momo Syndrome |
|
Delayed eruption of teeth, Short neck, Dental malocclusion, Femoral bowing, Large hands, Taurodon... |
ORPHA:2563 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypoplasia of penis, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the ver... |
ORPHA:2234 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Neurocardiofaciodigital Syndrome |
|
Syndactyly, Optic disc pallor, Cataract, Sclerocornea, Sparse eyebrow, Retrognathia, Vesicoureter... |
OMIM:619869 |
| Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Retrognathia, Fibular ... |
OMIM:165590 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Atrial septal defect, Multicystic kidney dysplasia, Cataract, Corneal opaci... |
ORPHA:1052 |
| Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Anotia, Atresia of the external auditory canal, Camptodactyly,... |
OMIM:608257 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Delayed skeletal maturation, Hypoplasia of the... |
OMIM:617604 |
| Arnold-Chiari Malformation Type I |
|
Stiff neck, Urinary incontinence, Areflexia of upper limbs, Cranial nerve compression, Abnormalit... |
ORPHA:268882 |
| Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
| Fucosidosis |
|
Hepatomegaly, Corneal opacity, Cardiomegaly, Kyphosis, Abnormality of the gallbladder, Mucopolysa... |
ORPHA:349 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Hypospadias, Abnormal rib morphology, Tetralogy ... |
ORPHA:276422 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Absent nipple, Pectus excavatum, Hemivertebrae, Mitral va... |
OMIM:104350 |
| Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Elevated circulating creatine kinase concentration, Increased circulating myelocyte co... |
ORPHA:36234 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage,... |
OMIM:616050 |
| Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Iris atrophy, Short metacarpal, Long eyebrows, Pectus excavatum, Widow's p... |
OMIM:201180 |
| Mandibuloacral Dysplasia |
|
Alopecia, Hypertriglyceridemia, Micrognathia, Increased circulating free fatty acid level, Hypopl... |
ORPHA:2457 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
| Leukodystrophy, Hypomyelinating, 22 |
|
Optic disc pallor, Short neck, Inability to walk, Flexion contracture, Astigmatism, Upper limb hy... |
OMIM:619328 |
| Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Absent gallbladder, Missing ribs, Hypopl... |
OMIM:184705 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Prominent metopic ridge, Ventricular septal defect, Corneal opacity, Micrognathia, Aplasia of the... |
OMIM:608670 |
| Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Hearing impairment, Abnormal finger morphology, Cutaneous finger syndact... |
ORPHA:896 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Cataract, Optic nerve hypoplasia, Hand oligodactyly, Anisocoria, Abnormal pupil shape |
ORPHA:45358 |
| Charge Syndrome |
|
Abnormal tibia morphology, Hemivertebrae, Abnormality of bone mineral density, Chorioretinal colo... |
ORPHA:138 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia, Aganglionic megacolon, Abnormal pupil morphology |
ORPHA:2151 |
| Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Mandibular prognathia, Syndactyly, Hyperactivity, Pectus excavatum, Broad palm, Hypoplastic nippl... |
OMIM:618505 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Postaxial hand polydactyly, Abnormal rib morphol... |
ORPHA:2519 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Abnormality of retinal pigmentation, Anorexia, Pectus excavatum, Kyphosis, Asy... |
ORPHA:1969 |
| Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Cataract, Ataxia, Dilated cardiomyopathy, Optic atrophy, Renal hypoplasia, Hyperamm... |
ORPHA:254913 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Osteopenia, Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Myocar... |
OMIM:150230 |
| Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Mitral stenosis, Camptodac... |
ORPHA:2008 |
| Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Scoliosis |
OMIM:615066 |
| Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Sacral dimple, Broad hallux, Hypospadias, Widow's peak, Hand polydactyly, Broad thumb |
OMIM:239710 |
| Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Absent thumb, Absent radius, Short thumb, Ectopic kidney, Thrombocytopenia, Reticul... |
OMIM:227650 |
| Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Overlapping toe, Hypospadias, Limb joint contracture, Tapered finger, Synophrys, Optic atrophy, L... |
OMIM:300004 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplic... |
OMIM:227646 |
| Pseudo-Torch Syndrome 1 |
|
Microretrognathia, Hepatomegaly, Renal insufficiency, Cataract, Elevated hepatic transaminase, Sp... |
OMIM:251290 |
| Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ... |
ORPHA:93259 |
| Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
| Myopathy, Mitochondrial, And Ataxia |
|
Short stature, Tremor, Growth delay, Distal amyotrophy, Increased variability in muscle fiber dia... |
OMIM:617675 |
| Craniofrontonasal Syndrome |
|
Short neck, Sprengel anomaly, Clinodactyly of the 5th finger, Joint laxity, Broad hallux, Hypospa... |
OMIM:304110 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Ataxia, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
| Degcags Syndrome |
|
Osteopenia, Micrognathia, Oral-pharyngeal dysphagia, Synophrys, Bilateral renal hypoplasia, Low a... |
OMIM:619488 |
| Chédiak-Higashi Syndrome |
|
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop... |
ORPHA:167 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... |
OMIM:615285 |
| Rapidly Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Congestive heart failure, Hepatic hemangioma, Avascular necrosis, Thr... |
ORPHA:141184 |
| Gm1-Gangliosidosis, Type I |
|
Beaking of vertebral bodies, Hepatomegaly, Thickened ribs, Abnormal heart valve morphology, Short... |
OMIM:230500 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Papilledema, Ventricular septal defect, Elevated circulating creati... |
OMIM:618775 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Osteopenia, Pectus excavatum, Optic atrophy, Right bundle branch block, Slender long bone, Scolio... |
OMIM:618590 |
| Osteogenesis Imperfecta, Type I |
|
Osteopenia, Biconcave flattened vertebrae, Recurrent fractures, Mitral valve prolapse, Femoral bo... |
OMIM:166200 |
| Charge Syndrome |
|
Abnormal palmar dermatoglyphics, Micrognathia, Secundum atrial septal defect, Hemivertebrae, Hand... |
OMIM:214800 |
| Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Bicuspid aortic valve, Unilateral renal agenesis, Absent thumb, Unilatera... |
OMIM:614900 |
| Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Absent brainstem auditory responses, Uveitis, Conjunctivitis, Hypoplasia o... |
ORPHA:90321 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Bulbar palsy, Congenital hip dislocation, Poor head control, Proximal muscle weakness, Intermitte... |
ORPHA:98914 |
| Congenital Myasthenic Syndrome |
|
Bulbar palsy, Congenital hip dislocation, Poor head control, Proximal muscle weakness, Intermitte... |
ORPHA:590 |
| 3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Atrial septal defect, Sacral dimple, Ventricular septal defect, Sing... |
OMIM:257920 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, In... |
ORPHA:210136 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Spontaneous, r... |
OMIM:214500 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
| Hemihyperplasia, Isolated |
|
Skeletal muscle hypertrophy |
OMIM:235000 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Hepatic ... |
ORPHA:228308 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Hyphema, Leukocoria, Uveitis,... |
OMIM:221900 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Acetazolamide-Responsive Myotonia |
|
Skeletal muscle hypertrophy, Ophthalmoplegia, Ophthalmoparesis |
ORPHA:99736 |
| Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Papilledema, Atrial septal defect, Hypercholesterolemia, Proteinur... |
OMIM:619471 |
| Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Single transverse palmar crease, Proximal placem... |
OMIM:229850 |
| Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... |
OMIM:114000 |
| Myotonia, Potassium-Aggravated |
|
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Muscle weakness |
OMIM:608390 |
| Myotonia Congenita, Autosomal Dominant |
|
Skeletal muscle hypertrophy, Muscle weakness |
OMIM:160800 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Pericardial effusion, Myocarditis, Leukocytosis, Thrombocytopenia... |
ORPHA:292 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Cystathio... |
OMIM:277380 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Ataxia, Optic atrophy, Hip dislocation, Dysmetria, Gait a... |
OMIM:614381 |
| Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, E... |
ORPHA:2554 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Osteoporosis, Palmopla... |
OMIM:613989 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Situs inversus totalis, As... |
OMIM:615415 |
| Halperin-Birk Syndrome |
|
Micrognathia, Inability to walk, Flexion contracture, Optic atrophy, Hip dislocation, Development... |
OMIM:618651 |
| Cono-Spondylar Dysplasia |
|
Short humerus, Epiphyseal dysplasia, Short nail, Short neck, Kyphosis, Cone-shaped epiphyses of t... |
ORPHA:420794 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Sparse scalp hair, Optic nerve hypoplasia, Micrognathia, 2-3 toe cutaneous... |
OMIM:620029 |
| Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal... |
OMIM:301068 |
| 8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypoplasia of penis, Sacral dimple, Retinal dystrophy, Micrognathia, Splenomega... |
ORPHA:251066 |
| Fraser Syndrome 3 |
|
Nonimmune hydrops fetalis, Micrognathia, Simple ear, Short toe, Cutaneous syndactyly, Low-set ear... |
OMIM:617667 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia |
ORPHA:295 |
| Proteus Syndrome |
|
Central heterochromia, Pulmonary embolism, Abnormal finger morphology, Renal cyst, Abnormal form ... |
ORPHA:744 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... |
ORPHA:2041 |
| Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... |
ORPHA:75566 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Elevated circulatin... |
OMIM:236670 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... |
OMIM:231005 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Sandal gap, Abnormal dental enamel morphology, Supernumerary nipple, Pectus ... |
ORPHA:1812 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Lumbar hyperlordosis, Ventricular septal defect, Hypospadias, Micrognathia, Peters an... |
OMIM:616975 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ... |
OMIM:615418 |
| Holoprosencephaly |
|
Hypoplasia of penis, Short neck, Abnormality of the spleen, Synophrys, Abnormal form of the verte... |
ORPHA:2162 |
| Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome |
|
Thick eyebrow, Fundus atrophy, Synophrys, Optic atrophy, Scoliosis, Hirsutism, Short distal phala... |
ORPHA:1970 |
| Nephronophthisis 11 |
|
Polyuria, Stage 5 chronic kidney disease, Anemia, Anisocoria, Renal corticomedullary cysts, Hepat... |
OMIM:613550 |
| Kenny-Caffey Syndrome, Type 2 |
|
Papilledema, Increased bone mineral density, Transient hypophosphatemia, Delayed closure of the a... |
OMIM:127000 |
| Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Hypoplasia of penis, Toe syndactyly, Corneal opacity, Camptodactyly of finger, Ab... |
ORPHA:920 |
| Pearson Syndrome |
|
Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Hepatomegaly,... |
ORPHA:699 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Decreased nerve conduction velocity, Congenital foot contractures, Ankle clonu... |
ORPHA:565624 |
| Aymé-Gripp Syndrome |
|
Clinodactyly of the 5th finger, Megalocornea, Prominent metopic ridge, Tapered finger, Pericardia... |
ORPHA:1272 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Corneal opacity, Unilateral renal agenesis, Acute leukemia, Attention defici... |
ORPHA:281090 |
| Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... |
ORPHA:649 |
| Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Alopecia, Ataxia, Craniosynostosis, Depression, Self-injurious behavior, Opacifica... |
OMIM:601853 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex... |
ORPHA:507 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Hepatomegaly, Limb joint contracture, Ataxia, Tapered finger, Splenome... |
OMIM:301072 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Tibial bowing, Spina bifida occulta, Long hallux, Multicystic kidney dyspl... |
ORPHA:500095 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate p... |
OMIM:224120 |
| Trichinellosis |
|
Facial palsy, Trismus, Retinal hemorrhage, Central retinal artery occlusion, Anisocoria, Irritabi... |
ORPHA:863 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia... |
OMIM:267700 |
| Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hepatomegaly, Hand polydactyly, Optic atrophy, Gait disturbance |
ORPHA:2971 |
| Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Ataxia, Highly arched eyebrow, Micrognathia, Central Y-shaped ... |
ORPHA:2754 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Accelerated skeletal maturation, Renal cyst, Pectus carinatum, Vertebral s... |
OMIM:312870 |
| Mosaic Trisomy 16 |
|
Syndactyly, Abnormality of the cervical spine, Ventricular septal defect, Single transverse palma... |
ORPHA:1708 |
| Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma... |
OMIM:612109 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Joint laxity, Overlapping toe, Single transverse palmar crease, Pectus excavatum, Flexi... |
ORPHA:254528 |
| Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
| Superficial Siderosis |
|
Back pain, Ataxia, Subarachnoid hemorrhage, Functional abnormality of the bladder, Unsteady gait,... |
ORPHA:247245 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Glomerulonephritis, Cardiomegaly |
ORPHA:99931 |
| Warburg Micro Syndrome 2 |
|
Cataract, Overlapping toe, Flexion contracture, Optic atrophy, Low anterior hairline, Development... |
OMIM:614225 |
| Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Recurrent fractures, Vitreous floaters, ... |
OMIM:133780 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... |
ORPHA:45453 |
| Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Depression, Thrombocytopenia |
OMIM:231000 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... |
ORPHA:45452 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Chorioretinal dysplasia, Sclerocornea, Micrognathia, Epispadias, Vitritis, Retinal dysplasia, Abn... |
ORPHA:2556 |
| Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Enuresis, Irritability, Tics, ... |
ORPHA:66624 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Ventricular septal defect, Craniosynostosis, Optic atrophy, Atrial septal defe... |
ORPHA:457193 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Cataract, Urinary incontinence, Delayed skeletal maturation, Spastic gait, Gait ataxia, Urinary u... |
OMIM:601162 |
| Meckel Syndrome, Type 1 |
|
Micrognathia, Short neck, Asplenia, Iris coloboma, Accessory spleen, Syndactyly, Malformation of ... |
OMIM:249000 |
| Keratoendotheliitis Fugax Hereditaria |
|
Epiretinal membrane, Conjunctival hyperemia, Keratitis, Opacification of the corneal stroma |
OMIM:148200 |
| Arachnoid Cyst |
|
Back pain, Urinary incontinence, Facial palsy, Subarachnoid hemorrhage, Inability to walk, Crania... |
ORPHA:2356 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly, Sparse scalp hair, Aganglionic megacolon, Hypospadias, Sparse eyebrow, Iris co... |
ORPHA:66629 |
| Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Hypospadias, Delayed closure of the anterior fontan... |
ORPHA:96182 |
| Neutral Lipid Storage Myopathy |
|
Short stature, Progressive distal muscle weakness, Hand muscle weakness, Fatty replacement of ske... |
ORPHA:98908 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
| Relapsing Fever |
|
Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-react... |
ORPHA:91547 |
| Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
| Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis... |
ORPHA:470 |
| Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Corneal opacity, Unilateral renal agenesis, Craniosynostosis, Micrognathia, Developmental glaucom... |
ORPHA:1064 |
| Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracrania... |
ORPHA:449285 |
| Aicardi-Goutieres Syndrome 5 |
|
Arthropathy, Irritability, Flexion contracture, Thrombocytopenia |
OMIM:612952 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Sinusitis, Severe B lymph... |
OMIM:102700 |
| Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:158061 |
| Non-Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin, Hepatic hemangioma, Thrombocytopenia |
ORPHA:141179 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Short humerus, Short metacarpal, Micrognathia, Short neck, Humeroradia... |
ORPHA:3404 |
| Monosomy 22 |
|
Finger syndactyly, Aplasia of the thymus, Single transverse palmar crease, Short neck, Schwannoma... |
ORPHA:96123 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Elevated circulating creatine kinase concentration, Spinal rigidity, Peters anomaly, Bu... |
OMIM:613150 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Optic atrophy, Abnormal autonomic nervou... |
OMIM:598500 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Multiple rib fractures, Hepatomegaly, Femur fracture, Spleno... |
OMIM:612301 |
| Arboleda-Tham Syndrome |
|
Mandibular prognathia, Secundum atrial septal defect, Long thorax, Conjunctivitis, Narrow chest, ... |
OMIM:616268 |
| Grange Syndrome |
|
Finger clinodactyly, Syndactyly, Brachydactyly |
OMIM:602531 |
| Scheie Syndrome |
|
Aortic regurgitation, Hepatomegaly, Corneal opacity, Joint stiffness, Splenomegaly, Limitation of... |
ORPHA:93474 |
| Noonan Syndrome |
|
Abnormal hair quantity, Hepatomegaly, Abnormal pulmonary valve morphology, Micrognathia, Pectus e... |
ORPHA:648 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creatine kinase con... |
ORPHA:329178 |
| Keutel Syndrome |
|
Alopecia, Ventricular septal defect, Optic atrophy, Recurrent sinusitis, Pulmonary arterial hyper... |
ORPHA:85202 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Ataxia, Optic atrophy, Palmoplantar hyperkeratosis, Anisocoria, Abnormal... |
OMIM:231550 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Corneal opacity, Micrognathia, Keratitis, Synophrys, Conjunctivitis, Thick eyebrow |
OMIM:602562 |
| Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Protruding ear, Finger clinodactyly, Conduc... |
ORPHA:2751 |
| Say-Barber-Miller Syndrome |
|
Micrognathia, Patellar hypoplasia, Abnormal T cell morphology, Knee flexion contracture, Macular ... |
ORPHA:3132 |
| Luscan-Lumish Syndrome |
|
Mandibular prognathia, Malar flattening, Irregular menstruation, Advanced ossification of carpal ... |
OMIM:616831 |
| Craniosynostosis With Fibular Aplasia |
|
Single transverse palmar crease, Craniosynostosis, Fibular aplasia |
OMIM:218550 |
| Angelman Syndrome |
|
Mandibular prognathia, Optic disc pallor, Hyperactivity, Keratoconus, Ataxia, Broad-based gait, A... |
ORPHA:72 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Ataxia, Supernumerary nipple, Optic atrophy, Clinodactyly of... |
ORPHA:1173 |
| Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia |
ORPHA:2134 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Rocker bottom foot, Mic... |
ORPHA:521426 |
| Glycogen Storage Disease Vii |
|
Increased muscle glycogen content, Increased variability in muscle fiber diameter, Muscle weakness |
OMIM:232800 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Micrognathia, Primary amenorrhea, Deformed humerus, Mandibular cond... |
ORPHA:2975 |
| Joubert Syndrome 1 |
|
Optic disc pallor, Hyperactivity, Retinal dystrophy, Ataxia, Highly arched eyebrow, Aggressive be... |
OMIM:213300 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal wid... |
OMIM:271510 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cataract, Ataxia, Micrognathia, Pericardial effusion, Optic atrophy, Opto-chiasmatic atrophy, Gai... |
OMIM:620089 |
| Marden-Walker Syndrome |
|
Micrognathia, Epispadias, Abnormal form of the vertebral bodies, Pectus carinatum, Abnormal penis... |
ORPHA:2461 |
| Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro... |
OMIM:610333 |
| Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... |
OMIM:136120 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Joint laxity, Iris atrophy, Cataract, Broad hallux, Arachnodactyly, Homocystinuria, Ectopia lenti... |
OMIM:601552 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal clavicle morphology, Absent eyebrow, Hypospadias, Tarsal synostosis, Aplastic clavicle, ... |
ORPHA:85199 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Sudden cardiac death... |
ORPHA:99901 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Hepatomegaly, Multicystic kidney dysplasia, Crossed fused rena... |
ORPHA:2538 |
| Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Septo-optic dysplasia, Aganglionic megacolon, Ataxia, Polyd... |
ORPHA:59315 |
| Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Sandal gap, Hyperactivity, M... |
OMIM:251260 |
| Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Secundum atrial septal defect, Short neck, Flexion contracture, Hypoplasia of the t... |
OMIM:264090 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Highly arched eyebrow, Thrombocytopenia, Inability to walk, Self-injurious behavior, Sacral hyper... |
ORPHA:457351 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
| Townes-Brocks Syndrome |
|
Hypoplasia of penis, Ectopic kidney, Triphalangeal thumb, Chorioretinal coloboma, Atrial septal d... |
ORPHA:857 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
| X-Linked Agammaglobulinemia |
|
Alopecia, Sinusitis, Osteomyelitis, Thrombocytopenia, Hepatitis, Arthritis, Conjunctivitis, Hypoc... |
ORPHA:47 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse scalp hair, Pancytopenia, Sparse eyelashes, Aplastic anemia, Carious teeth, Osteoporosis, ... |
OMIM:224230 |
| Vascular Ehlers-Danlos Syndrome |
|
Joint dislocation, Congenital hip dislocation, Osteoarthritis, Abnormal pupil morphology, Interna... |
ORPHA:286 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Synophrys, Low anterior hairline... |
OMIM:619512 |
| Rapp-Hodgkin Syndrome |
|
Syndactyly, Hypospadias, Sparse eyelashes, Supernumerary nipple, Slow-growing hair, Hypoplasia of... |
OMIM:129400 |
| Friedreich Ataxia |
|
Abnormal EKG, Ataxia, Congestive heart failure, Optic atrophy, Limb ataxia, Gait ataxia, Scoliosi... |
OMIM:229300 |
| Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Elevated hepatic transaminase, At... |
OMIM:603553 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Sacral dimple, Alopecia, Tapered toe, Sparse eyelashes, Sparse scalp hair, Tapere... |
ORPHA:544488 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Ketonuria, Thrombocytopenia, Aminoaciduria, Neutropenia, Anemia |
OMIM:614520 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Ataxia, Anorexia, Hyperammonemia, Keratoconjunctivitis, Irritability, Organic aciduria,... |
ORPHA:79242 |
| Neonatal Marfan Syndrome |
|
Long toe, Iridodonesis, Tricuspid regurgitation, Arachnodactyly, Micrognathia, Ectopia lentis, Lo... |
ORPHA:284979 |
| Uveal Melanoma |
|
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... |
ORPHA:39044 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Tremor, Generalized muscle weakness, Type 1 fibers relatively smaller than type 2 fibers, Facial ... |
OMIM:619424 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Con... |
OMIM:602400 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Hypospadias, Flexion contracture, Hypertrichosis, S... |
OMIM:619479 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Slender long bone, Rod-cone dystrophy, Accelerated bone age after puberty, Thrombocytopenia |
ORPHA:96181 |
| Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Camptodactyly of finger, Mastocytosis, Micrognathia, Optic atrophy, I... |
ORPHA:2135 |
| Shigellosis |
|
Hyponatremia, Anorexia, Hemolytic-uremic syndrome, Myocarditis, Leukocytosis, Urethritis, Periton... |
ORPHA:810 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Transient ischemic attack, Elevated circulating creatine kinase concentration, Card... |
ORPHA:365 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Calcaneovalgus deformity, Pectus c... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Calcaneovalgus deformity, Pectus c... |
ORPHA:363958 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Micrognathia, Long fi... |
OMIM:617527 |
| Cockayne Syndrome Type 3 |
|
Dry hair, Flexion contracture, Premature graying of hair, Microcornea, Lentiglobus, Retinal degen... |
ORPHA:90324 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Recurrent fractures, Sclerocornea, Keratoglobus, Gait disturbance, Decr... |
OMIM:614170 |
| Blepharocheilodontic Syndrome 1 |
|
Clinodactyly, Cutaneous syndactyly |
OMIM:119580 |
| Zttk Syndrome |
|
Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Atrial septal defect, Absent gallb... |
OMIM:617140 |
| Wild Type Attr Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Abnormal EKG, Proteinuria, Myocardial infarction, Congestive h... |
ORPHA:330001 |
| Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Micrognathia, Short neck, Abnormal sternum morphology, Atrial s... |
OMIM:163950 |
| Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Flexion contracture, Microcornea, Laterally curved eyebrow, Atrial ... |
OMIM:300166 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Akinesia, Cardiomegaly, Micrognathia, Splenomegaly, Thrombocytopenia, Hepatic failu... |
OMIM:608013 |
| 3Mc Syndrome |
|
Craniosynostosis, Hyperlordosis, Highly arched eyebrow, Supernumerary nipple, Hip dislocation, Li... |
ORPHA:293843 |
| Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Micromelia, Micrognathia, Short neck, Epispadias, Hemivertebrae, Coxa vara, ... |
ORPHA:3107 |
| Gaucher Disease Type 3 |
|
Bone pain, Avascular necrosis, Hepatomegaly, Increased bone mineral density, Ataxia, Pericardial ... |
ORPHA:77261 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Splenomegaly, Elevated circulating sitosterol conce... |
OMIM:210250 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... |
OMIM:613011 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Hype... |
OMIM:251000 |
| Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Epistaxis, Thrombocytopenia |
ORPHA:721 |
| Fish-Eye Disease |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Angina pectoris, Corneal opacity, Splenome... |
ORPHA:79292 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Epistaxis, Myocardial infarction, Impaired ADP-induced platelet aggre... |
OMIM:155100 |
| Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Abnormality of the hand, Anterior cortical ca... |
OMIM:221800 |
| Prolidase Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Micrognathia, Hyperi... |
OMIM:170100 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Elevated hepatic transaminase, Ketonuria, Ataxia, Elevated c... |
ORPHA:480864 |
| Catastrophic Antiphospholipid Syndrome |
|
Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmonary embolism, Tran... |
ORPHA:464343 |
| Pierson Syndrome |
|
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloi... |
OMIM:609049 |
| Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Alopecia, Corneal opacity, Abnormal eyelash morphology, Bone cyst, Ost... |
ORPHA:2396 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Abnormal circulating phytani... |
ORPHA:247815 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypomethioninemia, Pulmonary embolism, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Re... |
ORPHA:79282 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Secundum atrial septal defect, Conjugated hyperbilirubinemia, Primum atrial septal de... |
OMIM:619534 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Ventricular septal defect, Hypospadias, Sclerocornea, Hemi... |
ORPHA:77298 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Posteriorly rotated ears, Hearing impairment, Tapered finger, Short toe, S... |
OMIM:239300 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Micrognathia, Adactyly, Split hand, Aplasia/Hypoplasia of finge... |
ORPHA:989 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Alopecia, Aplastic anemia, Ataxia, Carious teeth, Thrombocytopenia, Osteoporosis, Hepatic necrosi... |
OMIM:127550 |
| Liver Disease, Severe Congenital |
|
Dry hair, Cardiomegaly, Micrognathia, Biliary hyperplasia, Abnormal left ventricular function, Le... |
OMIM:619991 |
| Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent... |
OMIM:300257 |
| Coccidioidomycosis |
|
Pericarditis, Renal insufficiency, Osteomyelitis, Abnormal retinal morphology, Eosinophilia, Abno... |
ORPHA:228123 |
| Orofaciodigital Syndrome I |
|
Microretrognathia, Syndactyly, Dry hair, Alopecia, Proteinuria, Carious teeth, Pancreatic cysts, ... |
OMIM:311200 |
| Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... |
OMIM:184400 |
| Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Urethral atresia, Coarse hair, Hypo... |
ORPHA:1896 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal def... |
ORPHA:1908 |
| Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxi... |
OMIM:226990 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Optic disc pallor, Ventricular septal defect, Single transverse p... |
OMIM:614947 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Short humerus, Hepatomegaly, Short femur, Hypospadias, Hepatic steatosis,... |
ORPHA:17 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Microretrognathia, 2-5 finger syndactyly, Optic disc pallor, Prominent metopic ridge, Hypospadias... |
ORPHA:468631 |
| Curry-Jones Syndrome |
|
Bicoronal synostosis, Wormian bones, Duplication of thumb phalanx, Preaxial hand polydactyly, 2-3... |
OMIM:601707 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Single transverse palmar crease, Coxa valga, Narrow ... |
OMIM:617425 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Ectopic kidney, Synophrys, Atrial septal defect, Clinodactyly of the 5th f... |
OMIM:607872 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size |
ORPHA:2348 |
| Gapo Syndrome |
|
Micrognathia, Eruption failure, Sparse hair, Megalocornea, Tubulointerstitial fibrosis, Keratocon... |
OMIM:230740 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Anorexia, Ab... |
ORPHA:99827 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Supernumerary toot... |
OMIM:617088 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... |
OMIM:232300 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Septo-optic dysplasia, Single transverse palmar c... |
OMIM:619841 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
| Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad eyebrow, Broad-based gait, Hypospadias, Optic nerve hypoplasia, Corneal dystrophy, Short ne... |
ORPHA:495875 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnorma... |
ORPHA:100924 |
| Myh9-Related Disease |
|
Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria... |
ORPHA:182050 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Joint laxity, Ventricular septal defect, Left ventricular noncompaction cardiomyop... |
OMIM:300967 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus... |
ORPHA:79083 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... |
OMIM:251880 |
| Friedreich Ataxia |
|
Hand muscle atrophy, Decreased motor nerve conduction velocity, Inability to walk, Optic atrophy,... |
ORPHA:95 |
| Vater/Vacterl Association |
|
Syndactyly, Ventricular septal defect, Hypospadias, Ectopic kidney, Absent radius, Short thumb, H... |
OMIM:192350 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
| Intellectual Disability-Short Stature-Hypertelorism Syndrome |
|
Clinodactyly of the 5th finger, Hypoplasia of the zygomatic bone |
ORPHA:3074 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Ketonuria, Ataxia, Elevated circulating creatine kinase concentrat... |
OMIM:616878 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Finger syndactyly, Hepatomegaly, Ventricular septal defect, Optic nerve hypopla... |
OMIM:620025 |
| Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Ventricular septal defect, Block vertebrae, Micrognathia, Hypoplasi... |
OMIM:164210 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
| Doors Syndrome |
|
Abnormal finger morphology, Hemivertebrae, Low anterior hairline, Nephrocalcinosis, Triphalangeal... |
ORPHA:79500 |
| Revesz Syndrome |
|
Aplastic anemia, Ataxia, Leukocoria, Fine hair, Exudative retinopathy, Nail dystrophy, Sparse hai... |
OMIM:268130 |
| Microphthalmia, Syndromic 1 |
|
Bicuspid aortic valve, Abnormal palmar dermatoglyphics, Microcornea, Narrow chest, Chorioretinal ... |
OMIM:309800 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Corneal opacity, Craniosynostosis, Palmoplantar keratoderma, Hypoalbuminemia, Nail dyst... |
ORPHA:79396 |
| Alternating Hemiplegia Of Childhood |
|
Ataxia, Cardiac conduction abnormality, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior,... |
ORPHA:2131 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Urinary incontinence, Kyphosis, Congestive heart failure, Tibia... |
OMIM:616482 |
| Unilateral Ocular Duplication |
|
Microcornea, Abnormal eyebrow morphology, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
| Primary Hyperoxaluria |
|
Choroidal neovascularization, Calcium oxalate nephrolithiasis, Heart block, Generalized osteoscle... |
ORPHA:416 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Cherry red spot of the macula, Hepatomegaly,... |
ORPHA:77293 |
| Cdags Syndrome |
|
Sparse scalp hair, Hypospadias, Sparse eyelashes, Sagittal craniosynostosis, Rectourethral fistul... |
OMIM:603116 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Epiphyseal dysplasia, Bowing of the long bones, Hypoplastic ilia, Flared metaphysis, Hip dislocat... |
OMIM:615349 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune ... |
OMIM:603909 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Renal insufficiency, Hypercalcemia, Anemia, Thrombocytopenia |
ORPHA:2123 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Asplenia, Calcaneovalgus defo... |
ORPHA:261537 |
| Marburg Hemorrhagic Fever |
|
Back pain, Elevated circulating creatine kinase concentration, Anorexia, Uveitis, Leukopenia, Hyp... |
ORPHA:99826 |
| Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Anorexia, Splenome... |
ORPHA:824 |
| Incontinentia Pigmenti |
|
Hemivertebrae, Uveitis, Coarse hair, Sparse hair, Atrophic, patchy alopecia, Hypoplasia of the fo... |
OMIM:308300 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia |
OMIM:616176 |
| Toluene Embryopathy |
|
Hypoplasia of the zygomatic bone, Micrognathia, Hydronephrosis, Tapered finger |
ORPHA:1920 |
| Enlarged Parietal Foramina |
|
Broad thumb, Short clavicles, Craniosynostosis |
ORPHA:60015 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Micrognathia, Kyphosis, Optic atrophy, Dysmetria, Knee flexion contracture, Bilateral tal... |
OMIM:619708 |
| Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, ... |
OMIM:617397 |
| Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology, Impulsivity, Dysphagia |
ORPHA:280195 |
| 14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Posteriorly rotated ears, Hearing impairment, Micrognathia, Cr... |
ORPHA:264200 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Intracranial... |
ORPHA:3226 |
| Acrocallosal Syndrome |
|
Mandibular prognathia, Clinodactyly of the 5th finger, Micropenis, Hypopigmentation of the fundus... |
OMIM:200990 |
| Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Micromelia, Postaxial polydactyly, Short neck, Preaxial polydactyly, Retinal c... |
OMIM:616546 |
| Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Thrombocytopenia, Rhizomelia, Anemia |
OMIM:618116 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short neck, Ectopic kidney, Abnormal rib morphology, Low posterior hairline, Vertebral segmentati... |
ORPHA:2578 |
| Arima Syndrome |
|
Hepatic fibrosis, Chorioretinal coloboma, Nephronophthisis, Hepatic steatosis, Tubulointerstitial... |
OMIM:243910 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Catarac... |
ORPHA:99956 |
| Fanconi Anemia, Complementation Group U |
|
Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap... |
OMIM:617247 |
| Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Urinary incontinence, Pulmonary embolism, Hyp... |
ORPHA:94093 |
| Restrictive Dermopathy 2 |
|
Microretrognathia, Overtubulated long bones, Hypoplastic facial bones, Short clavicles |
OMIM:619793 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Proximal muscle weaknes... |
ORPHA:70595 |
| Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Inability to walk, Vasculitis, Cardiom... |
OMIM:225750 |
| Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Proteinuria, Cardiomegaly |
OMIM:618886 |
| Cocaine Intoxication |
|
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... |
ORPHA:90068 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, Palmoplantar ke... |
OMIM:611528 |
| Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Absent eyebrow, Hypospadias, Corneal opacity, Aplasia/Hypoplasia... |
OMIM:219000 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Proteinuria, Cor pulmonale, Macronodular cirrhosis, Abnormal T cell morphology, Nephrotic syndrom... |
OMIM:215250 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Anterior uveitis, Polyarticular arthritis, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
| Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Intracr... |
ORPHA:85212 |
| Osteogenesis Imperfecta, Type Iv |
|
Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Reduced bone mineral density, Incre... |
OMIM:166220 |
| Branchiooculofacial Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short neck, Renal cys... |
OMIM:113620 |
| Refractory Anemia |
|
Normocytic anemia, Abnormal cardiac ventricular function, Macrocytic anemia, Anemia of inadequate... |
ORPHA:98826 |
| Congenital Erythropoietic Porphyria |
|
Osteopenia, Anisocytosis, Abnormal circulating porphyrin concentration, Scarring alopecia of scal... |
ORPHA:79277 |
| Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
| Coffin-Siris Syndrome 12 |
|
Micrognathia, Synophrys, Low anterior hairline, Patent foramen ovale, Abnormal repetitive manneri... |
OMIM:619325 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Bone pain, Myeloid leukemia, Hepatomegaly, Neutrophilia, Leukocytosis, Osteopo... |
ORPHA:98849 |
| Avian Influenza |
|
Elevated hepatic transaminase, Lymphopenia, Elevated circulating creatine kinase concentration, E... |
ORPHA:454836 |
| Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Micrognathia, Bicuspid pulmonary valve, Pectus carinatum, Abnormal sternum... |
OMIM:610168 |
| Serotonin Syndrome |
|
Restlessness, Tachycardia, Hypertension, Irritability, Agitation, Hypotension, Hepatic failure, A... |
ORPHA:43116 |
| 19P13.13 Microdeletion Syndrome |
|
Sandal gap, Optic nerve hypoplasia, Pectus excavatum, Long fingers, Optic atrophy, Long eyelashes... |
ORPHA:357001 |
| Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
| Platelet Signal Processing Defect |
|
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... |
OMIM:173590 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Poor head control |
OMIM:615595 |
| Mckusick-Kaufman Syndrome |
|
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Aganglionic megacolon, Tarsa... |
ORPHA:2473 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circul... |
ORPHA:540 |
| Tangier Disease |
|
Peripheral axonal neuropathy, Hypertriglyceridemia, Corneal opacity, Thrombocytopenia, Hepatosple... |
ORPHA:31150 |
| Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract |
ORPHA:65 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Ventricular septal defect, Sparse eyelashes, Abnormality of hair texture, Optic atr... |
OMIM:234050 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Myopathy, Increased variability in muscle fiber diameter, Limb dystonia |
OMIM:604377 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... |
OMIM:604229 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Neurogenic bladder, Optic atrophy, Increased cup-to-disc ratio, Scoliosis, Dysphagia, Hip subluxa... |
ORPHA:500144 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Inability to walk, Thrombocytopenia, Scoliosis |
OMIM:616577 |
| Transcobalamin Deficiency |
|
Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop... |
ORPHA:859 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content, Muscle weakness |
ORPHA:228302 |
| Williams-Beuren Syndrome |
|
Osteopenia, Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Premature graying of ha... |
OMIM:194050 |
| Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis, Nonprogressive cerebellar ataxia, Thrombocytopenia |
ORPHA:3327 |
| Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria |
OMIM:619649 |
| Glycogen Storage Disease Xii |
|
Short stature, Myopathy, Delayed puberty, Increased variability in muscle fiber diameter, Muscle ... |
OMIM:611881 |
| Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Hepatomegaly, Optic atrophy, Renal cyst, Epiphyseal stippling, Hepatic fibrosis, C... |
OMIM:601539 |
| Tularemia |
|
Tachycardia, Leukocytosis, Anemia, Conjunctivitis, Conjunctival hyperemia, Thrombocytopenia |
ORPHA:3392 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
| Giant Cell Arteritis |
|
Renal insufficiency, Pericarditis, Alopecia, Epistaxis, Sudden cardiac death, Abnormality of thro... |
ORPHA:397 |
| Hypoglossia-Hypodactylia |
|
Adactyly, Split hand, Retrognathia, Micrognathia |
OMIM:103300 |
| Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
| Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ... |
ORPHA:93260 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Abnormality of the spleen, Abnormal mesentery morphology,... |
ORPHA:93941 |
| Boomerang Dysplasia |
|
Absent radius, Hypoplastic iliac body, Fibular aplasia |
OMIM:112310 |
| Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Hallux valgus, Thumb contracture, Retinal dystrophy, Short nail, Duplication of distal phalanx of... |
ORPHA:324540 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Short neck, Hypocalcemia, Abnormal repetitive mannerisms, Joint laxity, Na... |
OMIM:620330 |
| Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
| Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Flexion contracture, Ophthalmoparesis, Skeletal muscle hypertrophy, Myop... |
ORPHA:682 |
| Dyskeratosis Congenita, X-Linked |
|
Premature graying of hair, Leukopenia, Conjunctivitis, Pterygium, Alopecia, Hypospadias, Ataxia, ... |
OMIM:305000 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
| Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia... |
ORPHA:906 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... |
OMIM:619463 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Cataract, Angina pectoris, Ataxia, Myocardial infarction, Osteoporosis, Ankle ... |
OMIM:213700 |
| Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Abnormal heart valve mo... |
ORPHA:781 |
| Monosomy 9P |
|
Hypospadias, Proximal placement of thumb, Micrognathia, Abnormality of the tarsal bones, Short ne... |
ORPHA:261112 |
| X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
| Hennekam Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Lymphopenia, Camptodactyly of finger, Craniosynosto... |
ORPHA:2136 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Arthritis, Nephritis, Thrombocytopenia |
OMIM:152700 |
| Ayme-Gripp Syndrome |
|
Mandibular prognathia, Sparse scalp hair, Pericarditis, Delayed cranial suture closure, Tapered f... |
OMIM:601088 |
| Restrictive Dermopathy 1 |
|
Ureteral duplication, Micrognathia, Flexion contracture, Overtubulated long bones, Atrial septal ... |
OMIM:275210 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Ischemic stroke, Dysphagia, Thrombocytopenia |
OMIM:615750 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Oligosac... |
ORPHA:308552 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Micrognathia, Coxa valga, Short neck, Limitation of joint mobility, Bell-shaped t... |
ORPHA:254519 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Sacral dimple, Aganglionic megacolon, Tapered finger, I... |
OMIM:613603 |
| Infant Botulism |
|
Hyponatremia, Cardiac arrest, Anorexia, Hypertension, Keratoconjunctivitis sicca, Hypotension, Dy... |
ORPHA:178478 |
| Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Retinal dystrophy, Single transverse palmar... |
OMIM:607932 |
| Leptospirosis |
|
First degree atrioventricular block, Anorexia, Uveitis, Elevated serum transaminases during infec... |
ORPHA:509 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Increased mean corpuscular vo... |
OMIM:613839 |
| Carpenter Syndrome 2 |
|
Single transverse palmar crease, Short neck, Preaxial polydactyly, Low anterior hairline, Coxa va... |
OMIM:614976 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly |
OMIM:268800 |
| Tick-Borne Encephalitis |
|
Back pain, Elevated hepatic transaminase, Stiff neck, Facial palsy, Elevated circulating C-reacti... |
ORPHA:297 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... |
OMIM:608751 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Ectopic kidney, Micrognathia, Abnormal rib morphology, Abnormality of ... |
OMIM:601076 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect |
OMIM:608681 |
| Mowat-Wilson Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Asplenia, Calcaneovalgus defo... |
ORPHA:2152 |
| Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Elevated hepatic transaminase, Hypoplasia of penis, Ataxia, Repetitive com... |
ORPHA:66634 |
| Lysinuric Protein Intolerance |
|
Leukopenia, Aminoaciduria, Sparse hair, Hepatomegaly, Delayed skeletal maturation, Osteoporosis, ... |
OMIM:222700 |
| Lujo Hemorrhagic Fever |
|
Shock, Lymphopenia, Renal insufficiency, Stiff neck, Elevated hepatic transaminase, Elevated circ... |
ORPHA:319213 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
| Miller Fisher Syndrome |
|
Ataxia, Facial palsy, Anisocoria, Dysphagia, Mydriasis |
ORPHA:98919 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl... |
OMIM:314050 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Bloom Syndrome |
|
Syndactyly, Hepatic steatosis, Elevated hemoglobin A1c, Agenesis of maxillary lateral incisor, Ha... |
OMIM:210900 |
| Xp22.3 Microdeletion Syndrome |
|
Sacral dimple, Opacification of the corneal stroma |
ORPHA:1643 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Thrombocytopenia, Giant platelets, Macrothrombocytopenia,... |
OMIM:231200 |
| Pseudoaminopterin Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Synostosis of carpal bones... |
ORPHA:221120 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Cerebral vasculitis, Leukocytosis, Depression, Anterior open-bite malocclusion, Abn... |
ORPHA:83601 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Micrognathia, Microcytic anemia, Pectus carinatum, Narrow chest, Hepatic steatosis, Hepatomegaly,... |
OMIM:619525 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Cataract, Elevated circulating creatine kinase concentration, Spinal rigidity... |
OMIM:253800 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotensio... |
ORPHA:99828 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hemivertebrae, Femoral bowing, Micropenis, Decreased circulating renin level, Hyponatremia, Arach... |
OMIM:201750 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Hemivertebrae, Atrial septal defect, Absent gallbladder, Lumbar hyperl... |
ORPHA:500150 |
| Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
| Juvenile Nephropathic Cystinosis |
|
Abnormal long bone morphology, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular... |
ORPHA:411634 |
| Immunodeficiency 47 |
|
Normocytic anemia, Hepatomegaly, Accessory spleen, Tricuspid regurgitation, Decreased circulating... |
OMIM:300972 |
| Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Alopecia, Proteinuria, Pericardial effusion, Raynaud phenomenon,... |
ORPHA:93552 |
| Boutonneuse Fever |
|
Elevated hepatic transaminase, Abnormal skin morphology of the palm, Renal insufficiency, Vasculi... |
ORPHA:83313 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Camptodactyly of finger, Highly arched eyebrow, Micrognathia, Sparse eyebrow, Hypoplasia of the z... |
ORPHA:1968 |
| Proboscis Lateralis |
|
Abnormal eyebrow morphology, Aplasia/Hypoplasia of the maxilla, Cataract, Ventricular septal defe... |
ORPHA:141099 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Overlapping toe, Hypospadias, Craniosynostosis, Tapered finger, Pectus excavatum, ... |
OMIM:309590 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Absent gallbladder, Mi... |
ORPHA:3186 |
| Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasi... |
ORPHA:85165 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Aggressive behavior, Dysmetria, Cardiomyopathy, Athetosis, Difficulty walking, Dysphagia,... |
ORPHA:572798 |
| Parietal Foramina With Cleidocranial Dysplasia |
|
Short clavicles, Widely patent fontanelles and sutures |
OMIM:168550 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Single transverse palmar crease, Hypospadias, Sclero... |
OMIM:309801 |
| Acromelic Frontonasal Dysostosis |
|
Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Preaxial polydactyly... |
OMIM:603671 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Ichthyosis, X-Linked |
|
Palmar hyperlinearity, Palmoplantar keratoderma, Opacification of the corneal stroma |
OMIM:308100 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Elevated hepatic transam... |
ORPHA:36426 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Peripheral axonal neuropathy, Ataxia, Urinary incontinence, Cardiomegaly, Amyloid deposition in t... |
OMIM:105210 |
| Neuromuscular Oculoauditory Syndrome |
|
Poor head control, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, Tali... |
OMIM:618733 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt... |
OMIM:613845 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Anorexia, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fanconi syndr... |
OMIM:557000 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Hypoplasia of the iris, Hypocalcification of dental... |
ORPHA:169090 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Shock, Leukocytosis, Peritonitis, Abnormal heart morphology, Bradycardia, Hypotensi... |
ORPHA:391673 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Elevated circulating C-reactive protein concentration, Splenomegaly, L... |
ORPHA:90051 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepat... |
ORPHA:731 |
| Autosomal Dominant Optic Atrophy And Cataract |
|
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Ataxia, Anterior cortical c... |
ORPHA:67036 |
| Immunodeficiency 10 |
|
Hypoplasia of the iris, Autoimmune hemolytic anemia, Thrombocytopenia, Amelogenesis imperfecta |
OMIM:612783 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Elevated hepatic transam... |
ORPHA:537 |
| Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitia... |
ORPHA:340 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
| Acquired Purpura Fulminans |
|
Shock, Elevated circulating C-reactive protein concentration, Intracranial hemorrhage, Hepatic fa... |
ORPHA:49566 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Aganglionic megacolon, Abnormal hemoglobin, Joint stiffness, Flexion contrac... |
ORPHA:847 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Scapular winging, Ataxia, Elevated circulating creatine k... |
OMIM:614298 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Bicuspid aortic valve, Vesicoureteral reflux, Atrial septal defect, Patent foramen ov... |
ORPHA:438213 |
| Rift Valley Fever |
|
Back pain, Elevated hepatic transaminase, Retinitis, Anorexia, Hematemesis, Thrombocytopenia, Jau... |
ORPHA:319251 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| 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 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Craniosynostosis, Palmoplantar cutis gyrata, Abnormality of the pancreas, Optic atrophy, Hyperten... |
ORPHA:1555 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Hepatomegaly, Ataxia, Portal h... |
OMIM:615688 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Unilateral renal agenesis, Ectopic kidney, Abnormal sacrum morphology, Horsesho... |
ORPHA:3109 |
| Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Micrognathia, Short neck, Clinodact... |
ORPHA:1587 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv... |
OMIM:193235 |
| Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Synophrys, Low anterior hairline, Coa... |
OMIM:612289 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenes... |
OMIM:615145 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... |
OMIM:608758 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Epistaxis, Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Epistaxis, Thrombocytopenia |
OMIM:613554 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Congestive heart failure, Microvesicular he... |
OMIM:611126 |
| Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Absent platelet dense granules, Epistaxis, Albinism, Impaired ADP-induce... |
OMIM:614074 |
| Immunodeficiency 46 |
|
Conjunctivitis, Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
| Mckusick-Kaufman Syndrome |
|
Syndactyly, Congenital hip dislocation, Mesoaxial hand polydactyly, Edema, Cryptorchidism, Postax... |
OMIM:236700 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Micropenis, Optic atrophy, Thrombocytopenia |
OMIM:615597 |
| Stt3B-Cdg |
|
Micropenis, Optic atrophy, Thrombocytopenia |
ORPHA:370924 |
| Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Optic atrophy, Corneal scarring,... |
OMIM:610965 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Orthostatic hypotension, Ataxia, Anisocoria, Dysphagia, High anterior hairline |
OMIM:615510 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Pallister-Hall Syndrome |
|
Ectopic kidney, Hemivertebrae, Atrial septal defect, Atrioventricular canal defect, Micropenis, P... |
ORPHA:672 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Hemolytic anemia, Pancytopenia, Pericardial effusion, Increased circulating ferriti... |
OMIM:615846 |
| Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria, Enuresis, Dysphagia, Aggressive behavior |
ORPHA:289483 |
| Restrictive Dermopathy |
|
Osteopenia, Ureteral duplication, Multiple joint contractures, Micrognathia, Sparse hair, Atrial ... |
ORPHA:1662 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia, Ventricular arrhythmia |
OMIM:141000 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Refractory anemia, Abnormal heart morphology, Hematochezia, Melena, ... |
ORPHA:79076 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Sea-blue histiocytosis, Retinopathy, Thrombocytopenia |
ORPHA:158029 |
| Oculoectodermal Syndrome |
|
Giant cell granuloma of mandible, Hyperactivity, Transient ischemic attack, Supernumerary nipple,... |
OMIM:600268 |
| Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Atrial septal defect, Atrioventricular can... |
OMIM:619573 |
| Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Micromelia, Micrognathia, Conductive hearing impairment, Aplasia/Hypoplasia of... |
ORPHA:2753 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepati... |
OMIM:304790 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukocytosis, B... |
ORPHA:520 |
| Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Pulmonary embolism, Abnormal ... |
ORPHA:3205 |
| Tyrosinemia Type 2 |
|
Malar flattening, Palmoplantar keratoderma, Corneal opacity, Ataxia |
ORPHA:28378 |
| Constricting Bands, Congenital |
|
Syndactyly, Abnormal rib cage morphology, Hand polydactyly, Talipes equinovarus, Scoliosis, Ectop... |
OMIM:217100 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Hypospadias, Hypoplasia of the maxilla, Abnormal heart morphology, Microco... |
OMIM:601499 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
| African Trypanosomiasis |
|
Urinary incontinence, Choreoathetosis, Conjunctivitis, Iritis, Papilledema, Hepatomegaly, Alopeci... |
ORPHA:3385 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Increased bone mineral density, Stage 3 chronic kidney disease, Cortical sclerosis, ... |
OMIM:620366 |
| Crouzon Syndrome |
|
Mandibular prognathia, Sagittal craniosynostosis, Hypoplasia of the maxilla, Keratitis, Optic atr... |
OMIM:123500 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly |
OMIM:208000 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Epistaxis, Elevated circulating creatine kinase concentration, Subarachnoid ... |
OMIM:185070 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... |
OMIM:618278 |
| Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Microg... |
OMIM:208150 |
| Sarcoidosis |
|
Heart block, Increased T cell count, Ventricular tachycardia, Uveitis, Nephrocalcinosis, Tubuloin... |
ORPHA:797 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic ... |
OMIM:274150 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... |
ORPHA:79124 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Vesicoureteral reflux, Renal cortical cysts, ... |
OMIM:130650 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Micrognathia, Hypoplasia of the maxilla, Femoral bowing, Flared lower limb metaphysis, Acetabular... |
OMIM:616462 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Skeletal muscle hypertrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in... |
ORPHA:435660 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased size of the mandible, Hydronephrosis, Increased mean platelet volume |
OMIM:300048 |
| Wound Botulism |
|
Mydriasis, Urinary retention, Cardiac arrest, Dysphagia |
ORPHA:178475 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m... |
ORPHA:1071 |
| Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Ventricular septal defect, Sclerocornea, Limbal dermoid, Hypoplasia of the iris, Subval... |
OMIM:613001 |
| De Sanctis-Cacchione Syndrome |
|
Ataxia, Keratitis, Axonal degeneration, Optic atrophy, Scissor gait, Telangiectasia, Choreoatheto... |
OMIM:278800 |
| Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Atrial septal defect, Ventricular septal defect, Highly arched eyebrow, Ectopi... |
ORPHA:1519 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, Corneal pe... |
ORPHA:289390 |
| Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... |
ORPHA:83461 |
| Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Neo... |
ORPHA:51 |
| Hermansky-Pudlak Syndrome 9 |
|
Abnormal platelet aggregation, Ocular albinism, Leukopenia, Hypopigmentation of the fundus, Throm... |
OMIM:614171 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Dry hair, Hypopigmentation of hair, Down-sloping shoulders, Micrognathia, Wido... |
ORPHA:1974 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Enlargement of the ankles, Irregular ... |
ORPHA:99646 |
| Isovaleric Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Hyperglycinuria, Leukopenia, Thrombocytopenia |
OMIM:243500 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Syndactyly, Pectus carinatum |
OMIM:616430 |
| Retinitis Pigmentosa 74 |
|
Optic disc pallor, Pigmentary retinopathy, Polydactyly, Posterior polar cataract, Rod-cone dystrophy |
OMIM:616562 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Abnormal autonomic nervous system ... |
ORPHA:101016 |
| Castleman Disease |
|
Myelofibrosis, Renal insufficiency, Elevated circulating C-reactive protein concentration, Thromb... |
ORPHA:160 |
| Thakker-Donnai Syndrome |
|
Ventricular septal defect, Short neck, Hemivertebrae, Transposition of the great arteries, Cervic... |
ORPHA:1780 |
| Thyrocerebroretinal Syndrome |
|
Ataxia, Nephritis, Thrombocytopenia |
OMIM:274240 |
| Plague |
|
Hepatomegaly, Tachycardia, Mydriasis, Anorexia, Hematemesis, Splenomegaly, Abnormality of the elb... |
ORPHA:707 |
| Botulism |
|
Arrhythmia, Urinary retention, Mydriasis, Dysphagia |
ORPHA:1267 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Portal hypertension, Thrombocytopenia, Premature graying of hair, Nail dystrophy, Lym... |
OMIM:620365 |
| Iatrogenic Botulism |
|
Orthostatic hypotension, Urinary retention, Mydriasis, Dysphagia |
ORPHA:254509 |
| Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Rocker bottom foot, Micromelia, Mic... |
OMIM:256520 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Recurrent fractures, Optic ... |
OMIM:268315 |
| Foodborne Botulism |
|
Arrhythmia, Urinary retention, Mydriasis, Dysphagia |
ORPHA:228371 |
| Diffuse Alveolar Hemorrhage |
|
Proteinuria, Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Hemat... |
ORPHA:90060 |
| Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Increased bone mineral density, Renal insufficiency, Choroidal neovascularization,... |
OMIM:259900 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenome... |
ORPHA:158048 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
| Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Mydriasis, Anisocoria, Abnormali... |
ORPHA:79138 |
| Von Hippel-Lindau Disease |
|
Back pain, Hypertensive retinopathy, Myocardial infarction, Pancreatic endocrine tumor, Adrenal p... |
ORPHA:892 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Hepatitis, Chronic hepatitis, Ankle clonus, Scleros... |
OMIM:308230 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Aplasia/Hypoplasia of the phalanges of the thumb, Reduced C-peptide level, Hy... |
ORPHA:556955 |
| Friedreich Ataxia 2 |
|
Abnormal EKG, Ataxia, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Hammertoe... |
OMIM:601992 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... |
ORPHA:1677 |
| Cyclic Neutropenia |
|
Sinusitis, Cyclic neutropenia, Peritonitis, Bone pain, Decreased eosinophil count, Lymphopenia, T... |
ORPHA:2686 |
| Lymphangiectasia, Intestinal |
|
Abnormal hair morphology, Lymphopenia, Prominent floating ribs, Neonatal hypoproteinemia |
OMIM:152800 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Hypospadias, Kyphoscoliosis, Micrognathia, Joint stiffness, Chordee, Astigmatism, Att... |
OMIM:618820 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume |
OMIM:615193 |
| Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Congestive heart failure, T... |
ORPHA:391487 |
| Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Tremor, Rhabdomyolysis, Ophthalmoparesis, Episodic flaccid weak... |
ORPHA:79102 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Increased circulating ferritin concentration, Hypochromic mi... |
ORPHA:3240 |
| Digeorge Syndrome |
|
Sclerocornea, Micrognathia, Hypoplasia of the thymus, Hypocalcemia, Hepatic steatosis, Scoliosis,... |
OMIM:188400 |
| Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Corneal dystrophy, Delayed eruption of primary teeth, Opa... |
OMIM:180900 |
| Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma, Attention deficit hyperactivity disorder |
ORPHA:461 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis, Thrombocytopenia |
OMIM:314000 |
| Genitopatellar Syndrome |
|
Congenital hip dislocation, Micrognathia, Knee flexion contracture, Atrial septal defect, Micrope... |
OMIM:606170 |
| Steinert Myotonic Dystrophy |
|
Prolonged QRS complex, Oral-pharyngeal dysphagia, Supraventricular tachycardia, Alopecia, Posteri... |
ORPHA:273 |
| Thrombocytopenia 5 |
|
Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... |
OMIM:616216 |
| Slc35A1-Cdg |
|
Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia, Pulmonary hemorrhage |
ORPHA:238459 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Kyphosis... |
OMIM:615512 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea, Keratoconjunctivitis sicca, Sp... |
ORPHA:1806 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Thrombocytopenia, Alopecia, Autoimmune hemolytic anemia, Recurrent sinusitis |
OMIM:616576 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Abnormal number of hair whorls, Mitral atresia, Optic atrophy, Double outlet right ventricle, Sup... |
OMIM:618164 |
| Gray Platelet Syndrome |
|
Myelofibrosis, Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alph... |
OMIM:139090 |
| Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
| Autosomal Dominant Hypocalcemia |
|
Alopecia, Congestive heart failure, Optic atrophy, Hypercalciuria, Reduced bone mineral density, ... |
ORPHA:428 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Delayed eruption of primary teeth, Sclerocornea, Dilated cardiomyopathy, Ventricu... |
OMIM:300952 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Tachycardia, Macrocytic anemia, Proteinuria, Pancytopenia, Megaloblastic anemia,... |
ORPHA:35858 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Thrombocytopenia, Hyperammonemia, ... |
OMIM:251110 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Thrombocytopenia, Micrognathia |
ORPHA:1237 |
| Townes-Brocks Syndrome 1 |
|
Short metatarsal, Triphalangeal thumb, Chorioretinal coloboma, Vesicoureteral reflux, Atrial sept... |
OMIM:107480 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Flexion contracture, Optic atr... |
OMIM:619321 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:615715 |
| Cerebrofaciothoracic Dysplasia |
|
Abnormal hair pattern, Short neck, Synophrys, Rib fusion, Hemivertebrae, Low posterior hairline, ... |
ORPHA:1394 |
| X-Linked Mandibulofacial Dysostosis |
|
Micrognathia, Pectus excavatum, Hypoplasia of the zygomatic bone, Pulmonic stenosis, Abnormal mit... |
ORPHA:1131 |
| Yellow Fever |
|
Anuria, Elevated circulating creatine kinase concentration, Internal hemorrhage, Neutrophilia, El... |
ORPHA:99829 |
| Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... |
OMIM:615220 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Gastrointestinal hemorrhage, Increased RBC distribution width, Epistaxis, Macrothr... |
OMIM:187900 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Endocardial fibroelastosis, Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia... |
OMIM:277400 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hypoplasia of the... |
ORPHA:3145 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Anuria, Myocardial infarction, Leukocytosis, Schistocytosis, Eleva... |
ORPHA:90038 |
| Treacher-Collins Syndrome |
|
Hypoplasia of penis, Cataract, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the... |
ORPHA:861 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Pulmonary embolism, Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Er... |
ORPHA:447 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ... |
OMIM:251100 |
| Craniosynostosis And Dental Anomalies |
|
Hallux valgus, Papilledema, Mandibular prognathia, Delayed eruption of teeth, Broad hallux, Promi... |
OMIM:614188 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Sacral dimple, Hypospadias, P... |
ORPHA:2211 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Joint hypermobility, Glandular hypospadias, Thin ribs, Micropenis, Retrognathia, Penoscrotal hypo... |
ORPHA:456328 |
| Polymyositis |
|
Proximal muscle weakness, Abnormal muscle fiber morphology |
ORPHA:732 |
| Alström Syndrome |
|
Thoracic scoliosis, Abnormality of dental color, Urinary incontinence, Accelerated skeletal matur... |
ORPHA:64 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612925 |
| Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormal heart morphology, Abnorma... |
ORPHA:42775 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Preaxial polydactyly, Radial deviation of the 3rd finger, Conical incisor, Conjunctivitis, Tripha... |
OMIM:149730 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemoph... |
OMIM:301078 |
| Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Primary amenorrhea, Protruding ear, ... |
ORPHA:69085 |
| Omenn Syndrome |
|
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, H... |
OMIM:603554 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612926 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria, Dysphagia |
OMIM:300858 |
| Pontine Tegmental Cap Dysplasia |
|
Ataxia, Facial palsy, Rib fusion, Hemivertebrae, Dysmetria, Ankle clonus, Scoliosis, Dysphagia |
OMIM:614688 |
| Vexas Syndrome |
|
Macrocytic anemia, Elevated circulating C-reactive protein concentration, Arthritis, Arteritis, T... |
OMIM:301054 |
| Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Craniofacial hyperostosis, Alopecia, Cataract, Telangiectasia of the... |
ORPHA:910 |
| Retinoblastoma |
|
Hypopyon, Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema,... |
ORPHA:790 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization, Micrognathia |
OMIM:619074 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Choroidal neovascularization, Elevated circulating C-reactive protein concentr... |
ORPHA:91500 |
| Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Ureteral duplication, Cardiomegaly, Accelerated skeletal maturation, Hepat... |
ORPHA:116 |
| Acute Radiation Syndrome |
|
Cataract, Telangiectasia, Granulocytopenia, Hypotension, Lymphopenia, Thrombocytopenia |
ORPHA:454831 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... |
OMIM:613154 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Renal insufficiency, Proteinuria, Unsteady gait, Gait ataxia, Nephrotic syndrome, Focal segmental... |
OMIM:254900 |
| Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Proteinuria, Lenticonus, Corneal erosion, Stage 5 chronic kidney disease, De... |
OMIM:301050 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612924 |
| Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormal circulating lipid concentration, Proteinuria, Alopecia, Enlarged polyc... |
ORPHA:2298 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... |
OMIM:235400 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia |
OMIM:150550 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Anemia, Aminoaciduria, Elevated hepatic iron concentration, Increas... |
OMIM:614946 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Elevated urinary dopamine level, Elevated circulating crea... |
ORPHA:230 |
| Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... |
ORPHA:331206 |
| Rodrigues Blindness |
|
Sparse hair, Microcornea, Sclerocornea, Fine hair |
OMIM:268320 |
| Intestinal Botulism |
|
Mydriasis, Dysphagia |
ORPHA:178481 |
| Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Thrombocytopenia, Epistaxis, Cerebral hemorrhage |
ORPHA:3002 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Ataxia, Thrombocytopenia, Premature graying of ... |
ORPHA:3322 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Megacystis, Nephrolithiasis, Mydriasis |
OMIM:619365 |
| Toxin-Mediated Infectious Botulism |
|
Mydriasis, Dysphagia |
ORPHA:230800 |
| Pituitary Apoplexy |
|
Hyponatremia, Hypertension, Normochromic anemia, Hypotension, Mydriasis |
ORPHA:95613 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Craniosynostosis, Supernumerary nipple, Sparse eyebrow, Unilateral brachydactyly, Low... |
ORPHA:1521 |
| Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary em... |
ORPHA:70591 |
| Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Short metacarpal, Toe syndactyly, Absent eyelashes, Cutaneous finger syndactyly, ... |
OMIM:200110 |
| Hartsfield Syndrome |
|
Syndactyly, Hypospadias, Craniosynostosis, Ectrodactyly, Micropenis, Hypernatremia, Hypoplasia of... |
OMIM:615465 |
| Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Ataxia, Elevated circulating C-reactive pr... |
ORPHA:50918 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia, Hypertrichosis |
ORPHA:1063 |
| Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Hyperammonemia, Irritability, Organic aciduria, Elevated urinary 3-methylcrotonylglycin... |
OMIM:253270 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Neutropenia, An... |
ORPHA:88 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
| Galactosialidosis |
|
Conjunctival telangiectasia, Hepatosplenomegaly, Opacification of the corneal stroma, Cherry red ... |
OMIM:256540 |
| Fraser Syndrome 2 |
|
Unilateral renal agenesis, Short neck, Short thorax, Low anterior hairline, Renal hypoplasia, Cut... |
OMIM:617666 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Hyperactivity, Hypospadias, Kyphoscoliosis, Tapered finger, Micrognathia, Short neck, Paroxysmal ... |
OMIM:309580 |
| Adult Syndrome |
|
Finger syndactyly, Alopecia, Toe syndactyly, Absent nipple, Sparse scalp hair, Fine hair, Split f... |
ORPHA:978 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia |
OMIM:617243 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Impaired pla... |
OMIM:617443 |
| Acute Liver Failure |
|
Gastrointestinal hemorrhage, Shock, Elevated hepatic transaminase, Ataxia, Jaundice, Hepatitis, H... |
ORPHA:90062 |
| Hellp Syndrome |
|
Back pain, Hemolytic anemia, Elevated hepatic transaminase, Decreased mean corpuscular hemoglobin... |
ORPHA:244242 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
| Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:616433 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Depression, Emotional lability, Neutropeni... |
ORPHA:101096 |
| Thrombocytopenia 6 |
|
Myelofibrosis, Spontaneous, recurrent epistaxis, Osteoporosis, Thrombocytopenia |
OMIM:616937 |
| Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Hepatitis, Melena, Leukopenia, Dysphagia, Lympho... |
ORPHA:319218 |
| Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Cirrhosis, Nail dystrophy, Thrombocytopenia |
OMIM:613987 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Facial Spasm |
|
Anisocoria |
OMIM:134300 |
| Immunodeficiency 22 |
|
Pericarditis, Thrombocytopenia, Capillary leak, Retinal vasculitis, Decreased proportion of CD4-p... |
OMIM:615758 |
| Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Epistaxis, Impaired platelet aggregation, Abnor... |
OMIM:601399 |
| Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... |
ORPHA:3093 |
| Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa... |
ORPHA:980 |
| Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Pectus excavatum, Malar flattening, Hypoplasia of the zygomatic bone |
ORPHA:2835 |
| Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Irritability, Neutropenia, Thrombocytopenia |
OMIM:246400 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Hypertension, Retinal infarction, Atrial septal defect, Pulmonary arterial hypertension, Mydriasis |
OMIM:613834 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Tapered finger, Irritability, Dysphagia, Thick eyebrow |
OMIM:618367 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Rickets, Abnormal blood ion concentration, Corneal crystals, Renal tubular dys... |
ORPHA:411629 |
| Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... |
ORPHA:67043 |
| Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Joint hemorrhage, Epistaxis, Thrombocytopenia |
OMIM:277480 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Cataract, Elevated circulating creatine kinase concentration, Micrognathia, Opti... |
OMIM:253280 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Anuria, Myocarditis, Leukocytosis, Thrombocytopenia, Hyperkalemia... |
ORPHA:544482 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
| Inhalational Botulism |
|
Urinary retention, Mydriasis |
ORPHA:254504 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Trismus, Anemia, Dysphagia, Thrombocytopenia |
OMIM:230900 |
| Quebec Platelet Disorder |
|
Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Flexion contracture, Optic nerve hypoplasia, Thin ribs |
OMIM:614833 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Alopecia, Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Depression,... |
ORPHA:536 |
| Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Short neck, Abnormal hair ... |
ORPHA:647 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impa... |
OMIM:153670 |
| Pagod Syndrome |
|
Abnormal clavicle morphology, Multicystic kidney dysplasia, Sudden cardiac death, Situs inversus ... |
ORPHA:991 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased urinary potassium, Intracranial hemorrhage, Hypertension, Hypokalemia, Palpi... |
ORPHA:231625 |
| Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
| Isolated Epispadias |
|
Urinary incontinence, Epispadias, Anteriorly displaced urethral meatus, Abnormal pelvic girdle bo... |
ORPHA:93928 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Elevated circulating alanine aminotransferase concentration, Hypoplasia of th... |
OMIM:618500 |
| Treacher Collins Syndrome 3 |
|
Malar flattening, Hypoplasia of the zygomatic bone, Micrognathia |
OMIM:248390 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Hy... |
OMIM:615745 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Thrombocytopenia |
ORPHA:90045 |
| Alzahrani-Kuwahara Syndrome |
|
Optic disc pallor, Cataract, Ventricular septal defect, Hypospadias, Coronary sinus enlargement, ... |
OMIM:619268 |
| Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
| Retinoblastoma |
|
Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Leukemia |
OMIM:180200 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Intestinal bleeding, Abnormality of the liver, Pathologic fracture, Throm... |
OMIM:112200 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Alopecia, Cataract, Vitreous floaters, Poliosis, Vitritis, Retin... |
ORPHA:79098 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Optic disc pallor, Kyphosis, Telangiectasia, Pigmentary retinopathy, A... |
OMIM:266270 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Cherry red spot of the macula, Inappropriate behavior |
ORPHA:309246 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocyt... |
OMIM:300367 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Vasculitis, Decreased mean platelet volume... |
OMIM:617718 |
| Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Abnormal pelvic girdle bone... |
OMIM:600057 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
11 pairs of ribs, Multicystic kidney dysplasia, Elevated circulating creatine kinase concentratio... |
OMIM:615287 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Fraser Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Multicystic kidney dysplasia, Hypospadias... |
ORPHA:2052 |
| Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Ventricular septal defect, Thoracic hypoplasia, Abnormal heart morphology |
ORPHA:254534 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Peritonitis, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery p... |
OMIM:619351 |
| Apolipoprotein A-I Deficiency |
|
Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Angina pectori... |
ORPHA:425 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thrombocytopenia, Hemat... |
ORPHA:853 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Sinusitis, Anemia, Dysphagia, Thrombocytopenia |
ORPHA:169105 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
| Congenital Contractural Arachnodactyly |
|
Congenital kyphoscoliosis, Arachnodactyly, Camptodactyly of finger, Ectopia lentis, Joint stiffne... |
ORPHA:115 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
| Treacher Collins Syndrome 2 |
|
Microretrognathia, Micrognathia, Fusion of middle ear ossicles, Hypoplasia of the zygomatic bone,... |
OMIM:613717 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Hepatic hemangioma, Microangiopathic hemolytic ane... |
ORPHA:2330 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Abnormal opti... |
ORPHA:79078 |
| Woodhouse-Sakati Syndrome |
|
Osteopenia, Alopecia, Hyperlipidemia, Delayed skeletal maturation, Choreoathetosis, Abnormal T-wa... |
ORPHA:3464 |
| Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
| Thrombocytopenia 1 |
|
Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Joint hemorrhage, Conge... |
OMIM:313900 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Decreased mean platelet volume |
OMIM:273900 |
| Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Hyperlipidemia, Fine hair, Choreoathetosis, Sparse hair, Abnormal T-wave, Micropenis |
OMIM:241080 |
