Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
Digital Clubbing, Isolated Congenital |
|
Clubbing |
OMIM:119900 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Tendons, Extensor, Of Fingers, Anomalous Insertion Of |
|
Abnormal finger morphology |
OMIM:187390 |
Trigger Thumb |
|
Abnormal thumb morphology |
OMIM:190410 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Broad Terminal Phalanges, Familial |
|
Broad distal phalanx of the toes, Broad distal phalanx of finger |
OMIM:602071 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Brachydactyly, Type A1, D |
|
Short proximal phalanx of thumb, Short proximal phalanx of finger, Abnormal foot morphology, Shor... |
OMIM:616849 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Polydactyly, Preaxial I |
|
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Polydactyly, Postaxial, Type A10 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A |
OMIM:618498 |
Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Polydactyly, Postaxial, Type A9 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:618219 |
Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
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 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Oliver Syndrome |
|
Postaxial hand polydactyly |
OMIM:258200 |
Polydactyly, Postaxial, Type A2 |
|
Postaxial hand polydactyly |
OMIM:602085 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Abnormal thorax morphology, Hip dislocation, Fibu... |
OMIM:605274 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size |
ORPHA:98797 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Acrorenal Syndrome |
|
Hand oligodactyly |
OMIM:102520 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Blount Disease, Infantile |
|
Genu varum, Abnormality of the proximal tibial epiphysis |
OMIM:188700 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Abnormal thorax morphology, Upper limb phocomelia, Abnormality of the vertebral colum... |
ORPHA:294975 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Abnormal thorax morphology, Finger syndactyly |
ORPHA:85203 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
Sugarman Brachydactyly |
|
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... |
OMIM:272150 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph... |
ORPHA:2502 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch... |
OMIM:250220 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... |
ORPHA:3268 |
Cleidorhizomelic Syndrome |
|
Clinodactyly of the 5th finger, Abnormal clavicle morphology, Rhizomelia, Short middle phalanx of... |
OMIM:119650 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... |
OMIM:618167 |
Craniosynostosis With Fibular Aplasia |
|
Single transverse palmar crease, Fibular aplasia |
OMIM:218550 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Polydactyly |
OMIM:615988 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Atelosteogenesis, Type I |
|
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Verteb... |
OMIM:108720 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,... |
OMIM:118651 |
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly |
ORPHA:1566 |
Acropectoral Syndrome |
|
Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly, Pectus carinatum, T... |
OMIM:605967 |
Curved Nail Of Fourth Toe |
|
Short distal phalanx of finger |
OMIM:219070 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl... |
ORPHA:2141 |
Pierre Robin Syndrome And Oligodactyly |
|
Hand oligodactyly, Micrognathia |
OMIM:172880 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
Scholte Syndrome |
|
Kyphoscoliosis, Acromicria, Small hand, Patellar hypoplasia, Short foot, Micropenis, Decreased te... |
OMIM:300977 |
Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... |
OMIM:182255 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal form of the vertebral bodi... |
ORPHA:3104 |
Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Short neck, Micrognathia, Knee flexion contracture, Triangular sh... |
OMIM:271665 |
Brachydactyly, Type A1, C |
|
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... |
OMIM:615072 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Digital Arthropathy-Brachydactyly, Familial |
|
Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ... |
OMIM:606835 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Brachydactyly, Type A1 |
|
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... |
OMIM:112500 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... |
ORPHA:1263 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han... |
OMIM:164900 |
Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Scoliosis, Tibial torsion |
OMIM:188800 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Hypoplast... |
OMIM:607778 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Cleidorhizomelic Syndrome |
|
Abnormal clavicle morphology, Rhizomelia, Bilateral single transverse palmar creases, Short middl... |
ORPHA:1453 |
Brachydactyly, Type A2 |
|
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
Camptodactyly Syndrome, Guadalajara Type 2 |
|
Camptodactyly of finger, Short 3rd toe, Pectus excavatum, Cuboid-shaped vertebral bodies, Hip dis... |
ORPHA:1326 |
Familial Digital Arthropathy-Brachydactyly |
|
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... |
ORPHA:85169 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor... |
ORPHA:1836 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
Brachydactyly, Type D |
|
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly |
OMIM:113200 |
Jawad Syndrome |
|
Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd... |
OMIM:251255 |
Brachydactyly, Type A3 |
|
Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy... |
OMIM:112700 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Inc... |
ORPHA:750 |
Preaxial Hallucal Polydactyly |
|
Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
Thiemann Disease, Familial Form |
|
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:3314 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Isochromosomy Yq |
|
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
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 |
Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
Brachydactyly Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... |
ORPHA:93396 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Pes planus, Short metacarpal, Epiphyseal dysplasia, Ovoid vertebral bodies, Avascular necrosis of... |
OMIM:132400 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
Tetramelic Monodactyly |
|
Split foot, Split hand, Foot monodactyly, Hand monodactyly |
OMIM:187510 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Fibular hypopla... |
OMIM:201170 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... |
OMIM:186350 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Hypercon... |
OMIM:184255 |
Brachydactyly, Type A1, B |
|
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... |
OMIM:607004 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Bilateral c... |
OMIM:305400 |
Cousin Syndrome |
|
Short neck, Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Ambiguous gen... |
OMIM:260660 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Boomerang Dysplasia |
|
Absent radius, Hypoplastic iliac body, Fibular aplasia |
OMIM:112310 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome |
|
Decreased testicular size |
ORPHA:436144 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology |
OMIM:259270 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... |
ORPHA:1788 |
Blount Disease, Adolescent |
|
Genu varum, Bowing of the legs |
OMIM:259200 |
Scalp Defects And Postaxial Polydactyly |
|
Postaxial polydactyly type A |
OMIM:181250 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Short neck, Limited knee flexion, Cryptorc... |
OMIM:258315 |
Otoonychoperoneal Syndrome |
|
Hip contracture, Ankle flexion contracture, Aplasia/Hypoplasia of the fibula, Knee flexion contra... |
OMIM:259780 |
Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi... |
ORPHA:56305 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... |
OMIM:183600 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Humeroradial synostosis, Arachnodactyly, Oligodactyly |
OMIM:614416 |
Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals |
OMIM:618724 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
Smith-Mccort Dysplasia 2 |
|
Short neck, Short metatarsal, Pectus carinatum, Short phalanx of finger, Barrel-shaped chest, Sho... |
OMIM:615222 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly |
OMIM:615938 |
Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Oligodactyly |
ORPHA:2440 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Patellar hypoplasia, Short femoral neck, Irregular pa... |
OMIM:609325 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Short neck, Micrognathia, Cryptorchidism, Patellar aplasia, Abnormal rib... |
ORPHA:96061 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... |
OMIM:600384 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Thoracomelic Dysplasia |
|
Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Bell-shape... |
ORPHA:1803 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Elbow dislocation, Absent radius,... |
OMIM:171480 |
Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Brachydactyly Type C |
|
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... |
ORPHA:93384 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... |
OMIM:617405 |
Kuskokwim Syndrome |
|
Abnormal clavicle morphology, Talipes, Aplasia/Hypoplasia of the patella, Abnormal form of the ve... |
ORPHA:1149 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M... |
OMIM:227270 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... |
OMIM:617642 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Pectus c... |
OMIM:224690 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Clark-Baraitser syndrome |
|
Genu recurvatum, Tapered finger, Kyphosis, Broad palm, Genu valgum, Scoliosis, Short palm, Macroo... |
OMIM:300602 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Narrow chest, M... |
OMIM:611263 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Micrognathia, Lateral c... |
ORPHA:1801 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Radial bowing, Bowing of the long bones, Talipes, Micromelia, Aplasia of the... |
ORPHA:2879 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Si... |
OMIM:617604 |
Pseudoachondroplasia |
|
Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmente... |
OMIM:177170 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal morphology of ulna, Abnormal fibula morphology, Abnormal form of the vertebral bodies, A... |
ORPHA:1837 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Scoliosis, Hypogonadism, Patellar hypoplasia, Micrognathia |
OMIM:251240 |
Brachydactyly, Type A4 |
|
Type A brachydactyly, Short middle phalanx of the 2nd finger, Talipes calcaneovalgus, Congenital ... |
OMIM:112800 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Short neck, Micrognathia, Talipes calcaneovalgus, Knee flexion contracture, Intercrural pterygium... |
OMIM:265000 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... |
OMIM:147891 |
Peripheral Dysostosis |
|
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspon... |
OMIM:602271 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Lumbar hyperlordosis, External genital hypoplasia, Thora... |
ORPHA:3041 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Capitate-hamat... |
OMIM:271650 |
Acromicric Dysplasia |
|
Short metacarpal, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot, Short long bone, Sho... |
OMIM:102370 |
Omodysplasia 2 |
|
Dyspareunia, Short humerus, Hypospadias, Micrognathia, Cryptorchidism, Anterior wedging of T11, U... |
OMIM:164745 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Müllerian Aplasia And Hyperandrogenism |
|
Short neck, Primary amenorrhea, Hypoplasia of the uterus, Shield chest, Increased serum testoster... |
ORPHA:247768 |
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Short thumb, Postaxial hand polydactyly, Short 5th finger, Short 2nd toe |
OMIM:176305 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, ... |
OMIM:276820 |
Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnormal form of the ver... |
ORPHA:1354 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
Megalencephaly |
|
Macroorchidism, Long penis, Short neck, Genu valgum |
ORPHA:2477 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Chromosome 2Q31.1 Duplication Syndrome |
|
Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb |
OMIM:613681 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Ectrodactyly-Polydactyly |
|
Split hand, Postaxial hand polydactyly, Split foot |
OMIM:225290 |
Otopalatodigital Syndrome Type 2 |
|
Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger, Elbow disloca... |
ORPHA:90652 |
Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Equinovarus deformity,... |
ORPHA:566943 |
Parastremmatic Dwarfism |
|
Bowing of the long bones, Short neck, Kyphosis, Genu valgum, Scoliosis |
OMIM:168400 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Pectus excavatum, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyl... |
ORPHA:166024 |
Arthrogryposis, Distal, Type 11 |
|
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... |
OMIM:620019 |
Nail-Patella Syndrome |
|
Back pain, Abnormal tibia morphology, Abnormal femur morphology, Patellar hypoplasia, Talipes cal... |
ORPHA:2614 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger |
ORPHA:1471 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Syndactyly, Toe syndactyly, Clinodactyly of the 5th finger, Amelia, Testicular atrophy |
OMIM:601163 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Polydactyly |
OMIM:615987 |
Smith-Mccort Dysplasia 1 |
|
Barrel-shaped chest, Short metacarpal, Multicentric femoral head ossification, Iliac crest serrat... |
OMIM:607326 |
Recombinant 8 Syndrome |
|
Small scrotum, Camptodactyly of finger, Micrognathia, Pectus excavatum, Cryptorchidism, Patent du... |
ORPHA:96167 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... |
OMIM:614840 |
Penoscrotal Transposition |
|
Abnormal external genitalia, Hypospadias, Micrognathia, Penoscrotal transposition, Patellar aplas... |
ORPHA:2842 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pes planus, Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara... |
ORPHA:93351 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypoplasia, Lateral cl... |
OMIM:613091 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Long coccyx, Narrow greater sciatic notch, Halberd-shaped... |
OMIM:156530 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Hemivertebrae, Short r... |
OMIM:173800 |
Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
Microphthalmia With Limb Anomalies |
|
Sacral dimple, Toe syndactyly, Unilateral cryptorchidism, Single transverse palmar crease, Sandal... |
OMIM:206920 |
Gordon Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Talipes, Pectus excavatum, Scoliosis, Clinodactyly of... |
ORPHA:376 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v... |
OMIM:602111 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... |
OMIM:617927 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... |
OMIM:223800 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Pes planus, Periventricular heterotopia, Pectus excavatum, Scoliosi... |
OMIM:300624 |
15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should... |
OMIM:274000 |
49,Xyyyy Syndrome |
|
Abnormality of the epiphyses of the elbow, External genital hypoplasia, Abnormality of the testis... |
ORPHA:99330 |
Polydactyly, Postaxial, With Progressive Myopia |
|
Postaxial hand polydactyly |
OMIM:174310 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v... |
OMIM:228520 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... |
OMIM:615633 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa var... |
OMIM:608940 |
Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Abnormal form of the verteb... |
ORPHA:83468 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Kyphosis, Limited elbow extension, Short metatarsal, Small hand, Sh... |
OMIM:180870 |
Nail-Patella Syndrome |
|
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the later... |
OMIM:161200 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Small scrotum, Hypospadias, Absent sternal ossification, Aplasia/Hypoplasia of... |
OMIM:613803 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... |
ORPHA:2501 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Knee flex... |
ORPHA:3103 |
Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v... |
ORPHA:40 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... |
OMIM:618728 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Micrognathia, Tapered finger, Easily subluxated first metacarpophalangeal joints, Clinodactyly of... |
OMIM:311895 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elb... |
ORPHA:2633 |
Craniosynostosis, Adelaide Type |
|
Hallux valgus, Shortening of all middle phalanges of the fingers, Carpal bone malsegmentation, Co... |
OMIM:600593 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... |
ORPHA:93320 |
Metaphyseal Anadysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the lower limb, Aplasia/Hyp... |
ORPHA:1040 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm |
ORPHA:168555 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, P... |
OMIM:608728 |
Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Cryptorchidism, Patellar aplasia, Slender l... |
OMIM:613804 |
Dysspondyloenchondromatosis |
|
Kyphoscoliosis, Lower limb asymmetry, Abnormal fibula morphology, Genu valgum, Vertebral segmenta... |
ORPHA:85198 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Narrow chest, Scoliosis, Brachydactyly |
OMIM:613819 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Micrognathia, Pectus excavatum, Scoliosis, Macroorchidis... |
ORPHA:776 |
Microphthalmia, Isolated 4 |
|
Absent testis, Postaxial polydactyly |
OMIM:613094 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the vertebral bodies, Clavicu... |
ORPHA:2790 |
Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Micrognathia, Elbow dislocation, Cryptorchidism, Irregular femoral epiph... |
OMIM:613805 |
Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
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 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... |
OMIM:250460 |
Brachydactyly Type A4 |
|
Short middle phalanx of the 2nd finger, Symphalangism affecting the phalanges of the hand, Shorte... |
ORPHA:93394 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism, Limited elbow extension, Tapered finger |
OMIM:300706 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... |
OMIM:271530 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Disorganization, Mouse, Homolog Of |
|
Limb duplication, Hand polydactyly, Hip dislocation, Sacral meningocele |
OMIM:223200 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Short neck, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irreg... |
OMIM:610442 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho... |
OMIM:112350 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Pectus excavatum, Abnormal metaphysis morphology, Long fibula |
ORPHA:935 |
Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx ... |
OMIM:184260 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro... |
ORPHA:1350 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi... |
OMIM:618150 |
Xp22.13P22.2 Duplication Syndrome |
|
Tapered finger, Short neck, Pectus excavatum, Small hand, 2-3 toe syndactyly, Polycystic ovaries,... |
ORPHA:284180 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Pes planus, Abnormality of the hand, Abnormality of the upper limb, Clinodactyly of the 3rd toe, ... |
ORPHA:521308 |
Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... |
ORPHA:93388 |
Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Hypogonadism, Polydactyly, Clinodactyly |
OMIM:615984 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Radi... |
OMIM:602875 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Prominent metopic ridge, Small scrotum, Single transverse palmar crease, Short neck, Cryptorchidi... |
ORPHA:495818 |
Prenatal Bowing |
|
Bowing of the long bones |
OMIM:264050 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Abnormal clavicle morphology, Mi... |
ORPHA:958 |
Arthrogryposis, Distal, Type 1A |
|
Hip contracture, Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Ro... |
OMIM:108120 |
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... |
OMIM:112450 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Talipes, Ovoid vertebral bodies, Abnormality of the vertebr... |
ORPHA:1856 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro... |
ORPHA:63446 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
Genitopatellar Syndrome |
|
Hip contracture, Small scrotum, Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cryptorchidis... |
ORPHA:85201 |
Seckel Syndrome 1 |
|
Ivory epiphyses, 11 pairs of ribs, Pes planus, Hypospadias, Abnormal finger flexion crease, Singl... |
OMIM:210600 |
Coloboma Of Macula With Type B Brachydactyly |
|
Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph... |
OMIM:120400 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, Sho... |
OMIM:251230 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Congenital Vertical Talus |
|
Pes planus, Rocker bottom foot, Equinus calcaneus, Abnormality of the foot musculature, Achilles ... |
ORPHA:178382 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ... |
ORPHA:2635 |
Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp... |
ORPHA:93304 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... |
ORPHA:562 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
Ulbright-Hodes Syndrome |
|
Maternal diabetes, Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, Phocomelia, Abnormal ... |
ORPHA:3404 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Short neck, Abnormality of the endocrine system, Cryptorchidism, Pseudoh... |
ORPHA:464288 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Sh... |
OMIM:609945 |
Li-Campeau Syndrome |
|
Single transverse palmar crease, Cryptorchidism, Patent ductus arteriosus, Patellar hypoplasia, M... |
OMIM:619189 |
Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hand polydactyly, Foot pol... |
OMIM:258860 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Carpenter Syndrome |
|
Finger syndactyly, Syndactyly, Toe syndactyly, External genital hypoplasia, Kyphoscoliosis, Crani... |
ORPHA:65759 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Metatarsal... |
OMIM:612961 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Split foot, Split hand, Hand monodactyly |
OMIM:183800 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
Orofaciodigital Syndrome Xi |
|
Hypoplasia of the odontoid process, Kyphoscoliosis, Postaxial polydactyly |
OMIM:612913 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... |
ORPHA:1307 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... |
ORPHA:1570 |
Femoral-Facial Syndrome |
|
Short femur, Maternal diabetes, Micrognathia, Cryptorchidism, Abnormal sacrum morphology, Long pe... |
ORPHA:1988 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Microgn... |
ORPHA:628 |
Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
Heart-Hand Syndrome, Spanish Type |
|
Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly |
OMIM:140450 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypop... |
OMIM:184250 |
Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Radioulnar synostosis... |
OMIM:194350 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
Fryns-Smeets-Thiry Syndrome |
|
Arachnodactyly, Micrognathia, Patellar aplasia, Hip dislocation, Scoliosis |
ORPHA:2058 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
X-Linked Intellectual Disability, Siderius Type |
|
Preaxial hand polydactyly, Cryptorchidism, Large hands, Scoliosis, Decreased testicular size |
ORPHA:85287 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Ghosal Hematodiaphyseal Dysplasia |
|
Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal form of ... |
ORPHA:1802 |
Metacarpal 4-5 Fusion |
|
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... |
OMIM:309630 |
Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, 2-3 toe syndactyly, Cubitus valgus, Clinodactyly, ... |
OMIM:610313 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the... |
ORPHA:429 |
Brachydactyly Type E |
|
Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper... |
ORPHA:93387 |
Adams-Oliver Syndrome 3 |
|
Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho... |
OMIM:614814 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... |
ORPHA:1106 |
Coxopodopatellar Syndrome |
|
Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog... |
ORPHA:1509 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
ORPHA:1113 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Syndactyly, Congenital hip dislocation, Supernumerary nipple, Micrognathi... |
OMIM:263750 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short thorax, Short metatarsa... |
OMIM:617102 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Lumbar h... |
OMIM:256050 |
Fibrochondrogenesis 2 |
|
Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplast... |
OMIM:614524 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Flared metaphysis,... |
OMIM:602557 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... |
OMIM:184400 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br... |
ORPHA:1278 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... |
OMIM:619636 |
Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Thin ribs, ... |
OMIM:620076 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
Polyembryoma |
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Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... |
ORPHA:180229 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
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Kyphoscoliosis, Short neck, Micrognathia, Small hand, Scoliosis, Macroorchidism, Male hypogonadis... |
OMIM:300055 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
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Cataract, Cryptorchidism, Short thumb, Abnormal antihelix morphology, Chorioretinal coloboma, Hea... |
OMIM:274205 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
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Postaxial polydactyly |
OMIM:213010 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
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Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ... |
ORPHA:2256 |
Atelosteogenesis, Type Iii |
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Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat... |
OMIM:108721 |
Verloove Vanhorick-Brubakk Syndrome |
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Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi... |
ORPHA:3429 |
Campomelic Dysplasia |
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11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
Chromosome 8Q22.1 Duplication Syndrome |
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Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
Pelvis-Shoulder Dysplasia |
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Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
Bardet-Biedl Syndrome 4 |
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Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
Maternal Uniparental Disomy Of Chromosome 6 |
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Hydrocele testis, Slender long bone, Increased serum testosterone level, Congenital adrenal hyper... |
ORPHA:96181 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
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Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Coxa vara, Pectus carinat... |
OMIM:613330 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
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Hypoplasia of the ulna, Pes planus, Tapered finger, Short neck, Hip dislocation, Thin ribs, Knee ... |
OMIM:618395 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
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Short palm, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus,... |
ORPHA:163966 |
Exostoses, Multiple, Type Ii |
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Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... |
OMIM:133701 |
Exostoses, Multiple, Type I |
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Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... |
OMIM:133700 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
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Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality... |
ORPHA:3035 |
Nevus Comedonicus Syndrome |
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Finger syndactyly, Toe syndactyly, Abnormal foot morphology, Preaxial polydactyly, Scoliosis, Spi... |
ORPHA:64754 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Hypoplasia of the ulna, Lateral clavicle hook, Horizontal ribs, Early ossification of capital fem... |
OMIM:208500 |
Alg6-Cdg |
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Puberty and gonadal disorders, Shortening of all distal phalanges of the fingers, Increased circu... |
ORPHA:79320 |
Ear-Patella-Short Stature Syndrome |
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Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Aplastic clavicle, Micrognathia, Elbow... |
ORPHA:2554 |
Jackson-Weiss Syndrome |
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Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti... |
ORPHA:1540 |
Spermatogenic Failure 15 |
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Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
49,Xxxyy Syndrome |
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Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... |
ORPHA:261534 |
Spermatogenic Failure 77 |
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Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Atelosteogenesis Type Ii |
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Cervical kyphosis, Micromelia, Short neck, Micrognathia, Narrow chest, Short phalanx of finger, B... |
ORPHA:56304 |
Spondyloperipheral Dysplasia |
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Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... |
OMIM:271700 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
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T lymphocytopenia |
ORPHA:169095 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
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Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa... |
OMIM:618961 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
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Lumbar hyperlordosis, Enlarged joints, Bowing of the legs, Pectus excavatum, Limb undergrowth, Li... |
ORPHA:156728 |
Gnathodiaphyseal Dysplasia |
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Bowing of the long bones, Thickened cortex of long bones, Scoliosis |
ORPHA:53697 |
Laurin-Sandrow Syndrome |
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Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
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Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... |
ORPHA:93267 |
Brachydactyly, Type B2 |
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Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
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Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Halberd-shaped pelv... |
OMIM:184252 |
Al-Gazali-Bakalinova Syndrome |
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Epiphyseal dysplasia, Tapered finger, Pectus excavatum, Short neck, Flattened epiphysis, Genu val... |
OMIM:607131 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
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2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... |
OMIM:225280 |
Paternal Uniparental Disomy Of Chromosome X |
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Short metacarpal, Short neck, Shield chest, Infertility, Cubitus valgus, Micropenis, Decreased te... |
ORPHA:261524 |
Osteopathia Striata With Cranial Sclerosis |
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Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Pectus excavatum, Thoracolumbar kyphosi... |
OMIM:300373 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
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Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... |
OMIM:250420 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
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Short metatarsal, Type E brachydactyly, Short 4th metacarpal |
OMIM:113301 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
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Pectus excavatum, Small hand, Pectus carinatum, Broad finger, Clinodactyly, Short phalanx of fing... |
OMIM:614684 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
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Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Mesomelia, Vertebral segmen... |
ORPHA:2631 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
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Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ... |
ORPHA:166002 |
Feingold Syndrome Type 2 |
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Short thumb, Toe syndactyly, Short middle phalanx of finger, Brachydactyly |
ORPHA:391646 |
Testicular Regression Syndrome |
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Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Brachydactyly-Nystagmus-Cerebellar Ataxia |
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Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:113400 |
Pallister-Hall Syndrome |
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Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Shox-Related Short Stature |
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Micrognathia, Short neck, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm und... |
ORPHA:314795 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
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Syndactyly, Short toe |
OMIM:612581 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
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Cryptorchidism, Increased circulating gonadotropin level, Small hand, Short foot, Hypogonadism, D... |
OMIM:300869 |
17Q23.1Q23.2 Microdeletion Syndrome |
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Long toe, Pes planus, Sacral dimple, Sandal gap, Long fingers, Patent ductus arteriosus, Patellar... |
ORPHA:261279 |
Axial Spondylometaphyseal Dysplasia |
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Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... |
ORPHA:168549 |
Trichorhinophalangeal Syndrome, Type Iii |
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Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatarsal, Short fo... |
OMIM:190351 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
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Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb |
ORPHA:2091 |
Grant Syndrome |
|
Micrognathia, Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
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Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... |
OMIM:606895 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
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Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect |
OMIM:608681 |
X-Linked Intellectual Disability, Cilliers Type |
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Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... |
ORPHA:163971 |
Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand |
ORPHA:3152 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Pectus excavatum, Triphalangeal th... |
ORPHA:957 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
Holt-Oram Syndrome |
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Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit... |
ORPHA:392 |
Rothmund-Thomson Syndrome Type 1 |
|
Short metacarpal, Premature ovarian insufficiency, Plantar hyperkeratosis, Metaphyseal sclerosis,... |
ORPHA:221008 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
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Hyporeflexia of lower limbs, Areflexia of lower limbs, Calcaneovalgus deformity, Hyperlordosis |
OMIM:162370 |
Meier-Gorlin Syndrome 6 |
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Microretrognathia, Sandal gap, Decreased response to growth hormone stimulation test, Cryptorchid... |
OMIM:616835 |
Intellectual Developmental Disorder, X-Linked 14 |
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Macroorchidism |
OMIM:300062 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
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Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia ... |
ORPHA:3082 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
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Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short... |
ORPHA:968 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
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Short metacarpal, Recurrent patellar dislocation, Micrognathia, Capitate-hamate fusion, Short toe... |
OMIM:614078 |
X-Linked Intellectual Disability, Van Esch Type |
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Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... |
ORPHA:163976 |
Meier-Gorlin Syndrome 2 |
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Micrognathia, Patellar aplasia, Hypoplastic labia majora, Slender long bone, Labial hypoplasia, C... |
OMIM:613800 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
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Split hand, Toe syndactyly, Split foot, Micrognathia |
OMIM:183700 |
Metaphyseal Acroscyphodysplasia |
|
Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Mic... |
ORPHA:1240 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Down-sloping shoulders, Sin... |
OMIM:114300 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Micrognathia, Missi... |
OMIM:200980 |
Acrocephalopolydactyly |
|
Genu recurvatum, Short neck, Short long bone, Limb undergrowth, Thoracic hypoplasia, Brachydactyly |
ORPHA:221054 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic h... |
ORPHA:465508 |
Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormality of... |
ORPHA:2319 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha... |
ORPHA:370010 |
Triphalangeal Thumbs With Brachyectrodactyly |
|
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly |
OMIM:190680 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Limited mobility of proximal interphalangeal joint, Hypoth... |
OMIM:222300 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Hypoplastic il... |
OMIM:611717 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Kyphosi... |
ORPHA:3121 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Pes planus, Short metacarpal, Camptodactyly of finger, Kyphoscoliosis, Tapered finger, Flat capit... |
OMIM:612350 |
Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Straight clavicles, Short clavicles, Type E brachydactyly, Br... |
OMIM:113300 |
Becker Nevus Syndrome |
|
Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Hypoplastic labia minora, Abnormal ... |
ORPHA:64755 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... |
OMIM:311300 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... |
OMIM:300863 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Shortening of all phalanges of fingers, Platyspondyly, Bilateral t... |
OMIM:601356 |
Brachydactyly, Type E2 |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:613382 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... |
ORPHA:380 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Coronal cle... |
ORPHA:1952 |
Vertical Talus, Congenital |
|
Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus |
OMIM:192950 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Desbuquois Dysplasia 2 |
|
Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carinatum, Knee disloca... |
OMIM:615777 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Thoracic hypoplasia, Bowing of the legs, Short neck, Hyperlordosis, Delayed epiphyseal ossificati... |
ORPHA:93352 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S... |
OMIM:615503 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa... |
OMIM:251450 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... |
OMIM:600785 |
Rothmund-Thomson Syndrome Type 2 |
|
Joint dislocation, Short metacarpal, Plantar hyperkeratosis, Aplasia/hypoplasia involving bones o... |
ORPHA:221016 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... |
ORPHA:85167 |
Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... |
ORPHA:90791 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... |
ORPHA:457395 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Cryptorchidism, Pate... |
OMIM:616300 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr... |
OMIM:218600 |
Bardet-Biedl Syndrome 16 |
|
Polydactyly, Hypogonadism, External genital hypoplasia |
OMIM:615993 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Image Syndrome |
|
Metaphyseal dysplasia, Hypospadias, Micromelia, Adrenal hypoplasia, Cryptorchidism, Hypogonadism |
ORPHA:85173 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Pes planus, Scapular winging, Micrognathia, Pectus excavatum, Supernumerary ribs, Six lumbar vert... |
OMIM:619122 |
Laron Syndrome |
|
Decreased serum insulin-like growth factor 1, Abnormal joint morphology, Short long bone, Limb un... |
OMIM:262500 |
Jackson-Weiss Syndrome |
|
Broad hallux, Calcaneonavicular fusion, Hallux varus, Broad first metatarsal, 2-3 toe syndactyly,... |
OMIM:123150 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... |
OMIM:271630 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol... |
OMIM:142900 |
Feingold Syndrome 2 |
|
Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyly, Short middle phalanx of ... |
OMIM:614326 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Micrognathia, ... |
OMIM:617866 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Short thorax, Genu va... |
OMIM:619451 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology |
ORPHA:1506 |
Genitopatellar Syndrome |
|
Small scrotum, Congenital hip dislocation, Micrognathia, Knee flexion contracture, Micropenis, Pa... |
OMIM:606170 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... |
ORPHA:1436 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormal ver... |
ORPHA:1427 |
Short Stature, Dauber-Argente Type |
|
Long toe, Long fingers, Arachnodactyly, Decreased fibular diameter |
OMIM:619489 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot |
DECIPHER:46 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Coxa valga, Cryptorchidism, Finger clinodactyly, Patellar subluxation, Bilateral talipes equinova... |
ORPHA:2958 |
Mosaic Trisomy 14 |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short neck, Lower limb asymmetry, Cryp... |
ORPHA:1703 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Abnormal shoulder morphology, Long thorax, Mesomelia, Brachydactyly |
ORPHA:1277 |
Acrodysostosis |
|
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... |
ORPHA:950 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Microg... |
OMIM:255800 |
Meckel Syndrome, Type 11 |
|
Polydactyly |
OMIM:615397 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Cubitus valgus, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints... |
OMIM:186570 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... |
OMIM:151210 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
Aurocephalosyndactyly |
|
4-5 toe syndactyly |
OMIM:109050 |
Osseous Heteroplasia, Progressive |
|
Limb undergrowth |
OMIM:166350 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... |
OMIM:268305 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Diabetes mellitus, Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyph... |
ORPHA:2976 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Large tarsal bones, Micrognathia, Flared metaphysis, ... |
OMIM:215150 |
Dysplasia Epiphysealis Hemimelica |
|
Pes planus, Abnormal femoral neck morphology, Tarsal synostosis, Abnormal femur morphology, Genu ... |
ORPHA:1822 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... |
ORPHA:1426 |
Three M Syndrome 3 |
|
Short neck, Hyperlordosis, Increased vertebral height, Short thorax, Slender long bone, Hip dyspl... |
OMIM:614205 |
Aniridia-Absent Patella Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the patella |
ORPHA:1069 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... |
OMIM:602418 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... |
OMIM:612847 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ... |
ORPHA:239 |
Arthrogryposis, Distal, Type 2B1 |
|
Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Metatars... |
OMIM:601680 |
9Q21.13 Microdeletion Syndrome |
|
Talipes, Craniosynostosis, Cryptorchidism, Gray matter heterotopia, Hip dysplasia, Vertebral segm... |
ORPHA:531151 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Pes cavus, Decreased serum testosterone c... |
OMIM:308700 |
Monosomy 5P |
|
Microretrognathia, Finger syndactyly, Short neck, Small hand, Scoliosis |
ORPHA:281 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later... |
OMIM:269250 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Patella Aplasia-Hypoplasia |
|
Patellar aplasia, Patellar hypoplasia |
OMIM:168860 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Distal clavicular thinning, Micromelia, Bell-shaped thorax, Trapezoidal vertebr... |
OMIM:600092 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal... |
ORPHA:93307 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Cryptorchidism, Short neck, A... |
ORPHA:1865 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
Hypomelanosis Of Ito |
|
Syndactyly, Kyphosis, Hand polydactyly, Scoliosis, Radial deviation of finger, Clinodactyly |
OMIM:300337 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... |
ORPHA:2616 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlargement of the costochondra... |
OMIM:600081 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Ectrodactyly, Oligodactyly |
ORPHA:3016 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism, Abnormal thumb morphology, Kyphoscoliosis |
ORPHA:324410 |
Rapadilino Syndrome |
|
Joint dislocation, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the patella, Absent thumb |
OMIM:266280 |
Ring Chromosome Y Syndrome |
|
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... |
ORPHA:261529 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Hepatomegaly, Corneal opacity, Large for gestational age |
ORPHA:2432 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Lateral cla... |
OMIM:617895 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Talonavicular Coalition |
|
Coalescence of tarsal bones, Short hallux, Proximal/middle symphalangism of 5th finger, Abnormali... |
OMIM:186750 |
Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Micromelia, Abnormal thumb morphology, ... |
ORPHA:1597 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Orofaciodigital Syndrome Xvii |
|
Short neck, Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central... |
OMIM:617926 |
Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Short neck, Micrognathia, Tibial bowing, Knee flexion contractur... |
OMIM:601559 |
Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Camptodactyly of finger, Optic atrophy, EEG with generalized epileptiform discharges, Gait ataxia... |
OMIM:619323 |
Joubert Syndrome 20 |
|
4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
Meier-Gorlin Syndrome 7 |
|
2-4 finger syndactyly, Hypospadias, Sagittal craniosynostosis, Bowing of the legs, Aplasia/Hypopl... |
OMIM:617063 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Hypospadias, Arachnodactyly, Kyphoscoliosis, Pectus excavatum, Cryptorchidism, Kyphosis... |
ORPHA:3063 |
Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing... |
ORPHA:3210 |
Maxillonasal Dysplasia, Binder Type |
|
Patchy distortion of vertebrae, Vertebral clefting, Short distal phalanx of finger |
OMIM:155050 |
Trisomy 20P |
|
Finger syndactyly, Hypospadias, Camptodactyly of finger, Talipes, Short neck, Micrognathia, Crypt... |
ORPHA:261318 |
Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax, Pectus carinatum... |
OMIM:612921 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, Bell-shaped tho... |
OMIM:255710 |
Microduplication Xp11.22P11.23 Syndrome |
|
Pes planus, Toe syndactyly, Pes cavus |
ORPHA:217377 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Short thorax, Osteolysis involving bon... |
ORPHA:88630 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Sandal gap, Hypospadias, Postaxial polydactyly, Hyperlordosis, Lower limb asymmetr... |
OMIM:615761 |
Joubert Syndrome 10 |
|
Postaxial polydactyly |
OMIM:300804 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Corneal opacity, Abnormal pelvic girdle bone morphology, Abnor... |
ORPHA:2370 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hip dysplasia, Short middle phalanx of finger, Abnormal epiphysis morphology, Short middle phalan... |
ORPHA:63442 |
Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa... |
OMIM:609162 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Abnormal thoracic spine morphol... |
ORPHA:85438 |
Odontochondrodysplasia |
|
Bowing of the long bones, Micromelia, Coxa valga, Patent ductus arteriosus, Cone-shaped epiphysis... |
ORPHA:166272 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short neck, Micrognathia, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:304120 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Calf muscle hypertrophy, Testicular atrophy, Decreased fertility |
OMIM:313200 |
Cocaine Embryofetopathy |
|
Thoracoabdominal eventration, Short distal phalanx of finger |
ORPHA:1911 |
Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand |
OMIM:245800 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Micrognathia, Lateral clavicle hook, Short neck, Preaxial polydactyly, Hyp... |
OMIM:617925 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Micromelia, Osteoarthritis, Short thorax, Platyspondyly, Abnormal epiphysis morphology |
ORPHA:93283 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Scoliosis |
OMIM:619091 |
Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Short lower ... |
OMIM:259440 |
Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing |
OMIM:166740 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol... |
ORPHA:85166 |
Joubert Syndrome 18 |
|
Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphoscoliosis, Talipes equinova... |
OMIM:614815 |
Achondroplasia |
|
Lumbar hyperlordosis, Rhizomelia, Thoracic hypoplasia, Hip joint hypermobility, Bowing of the leg... |
ORPHA:15 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Grant Syndrome |
|
Bowing of the long bones, Micrognathia, Abnormal rib morphology, Abnormal pelvic girdle bone morp... |
ORPHA:2097 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... |
OMIM:263520 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
Bone Dysplasia, Lethal Holmgren Type |
|
Joint dislocation, Metaphyseal dysplasia, Rhizomelia, Talipes, Micromelia, Abnormality of the han... |
ORPHA:1842 |
1Q21.1 Microduplication Syndrome |
|
Failure to thrive, Cataract, Hypospadias, Cryptorchidism, Hip dislocation, Hip dysplasia, Talipes... |
ORPHA:250994 |
Moebius Syndrome |
|
Syndactyly, Pes planus, Brachydactyly, Short neck, Micrognathia, Split hand, Abnormal pelvic gird... |
OMIM:157900 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia ... |
OMIM:215140 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Corneal opacity, Splen... |
ORPHA:93476 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ... |
ORPHA:2251 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
White Forelock With Malformations |
|
Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi... |
ORPHA:2475 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Hyperlordosis, Avascular necrosis of the capital femor... |
ORPHA:77258 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypoplasia of penis, Small scrotum, Short neck, Abnormality of the thyroid gland, Hemivertebrae, ... |
ORPHA:2234 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Inability to walk, Optic atrophy, Overlapping toe |
OMIM:618572 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Decreased circulating renin level, Isosexual precocious pub... |
ORPHA:90795 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Coxa vara, Metaphyseal cupping of metacarpals, Thoracic kyphosi... |
OMIM:300232 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Scoliosis, Abnormality... |
ORPHA:1825 |
Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Preaxial polydactyly, Hypogonadotropic hypogonadism |
ORPHA:141333 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Aplasia/Hypopla... |
ORPHA:971 |
Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Long thorax, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le... |
OMIM:249710 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Spinal canal stenosis,... |
OMIM:614613 |
Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Abnormality of t... |
OMIM:300244 |
Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
Charlie M Syndrome |
|
Finger syndactyly, Micrognathia, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology,... |
ORPHA:1406 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Clinodactyly of the 5th finger, Short foot, Oligodactyly |
OMIM:619758 |
Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Cataract, Corneal opacity, Ataxia, Optic atrophy, Dysmetria, Hepat... |
ORPHA:93399 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Cryptorchidism, Hypospadias, Polydactyly, Hypoplastic ischia |
OMIM:616910 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Ventricular septal defect, Corneal o... |
ORPHA:290 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Hypospadias, Sandal gap, Lower limb asymmetry, Precocious... |
ORPHA:813 |
C Syndrome |
|
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, C... |
OMIM:211750 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Beaded ribs, Tibial bowing, Thin ribs, Bell-shaped thorax,... |
OMIM:166210 |
Ollier Disease |
|
Precocious puberty, Abnormal metaphysis morphology, Platyspondyly, Micromelia |
ORPHA:296 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Diabetes mellitus, Short metatar... |
OMIM:614813 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Anterior rib cupping, Short neck, Hypoplasia of the odontoid proces... |
OMIM:258480 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Abnormal thorax morphology, Small hand, Narrow palm, Scolio... |
ORPHA:1445 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Short femur, Hypospadias, Fractured radius, Wormian bones, Decreased fibu... |
OMIM:616897 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Precocious puberty, Hypothyroidism, Insulin-resistant diabetes mellitus, Long p... |
ORPHA:769 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Hip contracture, Toe syndactyly, Short neck, Elbow flexion contracture, 2-3 toe syndactyly, Short... |
OMIM:616809 |
3Q29 Microdeletion Syndrome |
|
Hypospadias, Tapered finger, Pectus excavatum, Patent ductus arteriosus, Pectus carinatum, Six lu... |
ORPHA:65286 |
Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Postaxial polydactyly |
OMIM:615985 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Micromelia, Cryptorchidism, Abnormal rib morphology, Abnormality of neuronal... |
ORPHA:2772 |
Acromelic Frontonasal Dysplasia |
|
Anterior pituitary hypoplasia, Cryptorchidism, Patellar hypoplasia, Talipes equinovarus, Preaxial... |
ORPHA:1827 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry, Lower limb asymmetry |
ORPHA:231140 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint dislocation, Single transverse palmar crease, Micromelia, Finger joint hypermobility, Micro... |
OMIM:618870 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Pectus excavatum, Hypoplasia of t... |
OMIM:212780 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Decreased palmar creases, Decreased serum estradiol, Triphalangeal thumb, Aplasia of the ovary, A... |
ORPHA:2232 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Short toe, Kyphosis, Hyperinsuline... |
ORPHA:3085 |
Weaver Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... |
OMIM:277590 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Spastic ataxia, Ataxia, Corneal dystrophy, Optic atrophy, Developmental cataract, Gait disturbance |
ORPHA:2572 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... |
OMIM:605282 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Thoracic hypoplasia, Micromelia, Micrognathia, Cryptorchidism, Short lo... |
OMIM:224410 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Hypopituitarism, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Pat... |
OMIM:603671 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... |
OMIM:601382 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasi... |
ORPHA:85165 |
Dihydropyrimidinase Deficiency |
|
Short phalanx of finger, Talipes equinovarus |
OMIM:222748 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Abnormal pelvis bone morphology, Sclerotic scapulae, A... |
ORPHA:166119 |
Bartsocas-Papas Syndrome 1 |
|
Short neck, Bilateral cryptorchidism, Micrognathia, Hypoplastic iliac wing, Micropenis, Pterygium... |
OMIM:263650 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Pes planus, Syndactyly, Distal lower limb muscle weakness, Scoliosis |
OMIM:615284 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Brachydactyly, Short distal phalanx of finger |
ORPHA:2787 |
Zimmermann-Laband Syndrome 3 |
|
Aplasia of the distal phalanx of the 5th toe, Kyphosis, Absent distal phalanx of the 2nd toe, Abs... |
OMIM:618658 |
Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Pes planus, Coxa valga, Bowing of the legs, Pectus excavatum, Coxa vara, Bel... |
OMIM:619131 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Weaver Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Micrognathia, Large hands, Talipes equino... |
ORPHA:3447 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Hypos... |
ORPHA:2311 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Kyphoscoliosis |
OMIM:300886 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... |
ORPHA:206484 |
Hypophosphatasia |
|
Bowing of the long bones, Abnormal metaphysis morphology, Abnormal rib morphology, Narrow chest |
ORPHA:436 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib morphology, A... |
ORPHA:2021 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Micrognathia, Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes |
ORPHA:2513 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micro... |
OMIM:600325 |
Symphalangism, Proximal, 1A |
|
Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy... |
OMIM:185800 |
Hemochromatosis, Type 1 |
|
Arthropathy, Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular... |
OMIM:235200 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Pterygium, Micromelia, Micrognathia, Elbow disloca... |
ORPHA:93329 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Brachydactyly, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short distal phalanx o... |
ORPHA:1858 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly |
ORPHA:1114 |
Kniest Dysplasia |
|
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Short neck, Pectus excavatum, Delayed epi... |
OMIM:156550 |
Mucolipidosis Iii Gamma |
|
Abnormality of the hand, Short neck, Flat capital femoral epiphysis, Hyperlordosis, Kyphosis, Pec... |
OMIM:252605 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Short neck, Abnormality of the humerus, Preax... |
ORPHA:3098 |
Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Abnormal clavicle morphology, Sandal gap, Camptodactyly ... |
ORPHA:1520 |
Joubert Syndrome 16 |
|
Polydactyly |
OMIM:614465 |
Melnick-Needles Syndrome |
|
Bowing of the long bones, Coxa valga, Micrognathia, Short thorax, Hip dislocation, Abnormal rib m... |
ORPHA:2484 |
Say-Barber-Miller Syndrome |
|
Thoracic kyphoscoliosis, Craniosynostosis, Micrognathia, Cryptorchidism, Talipes equinovalgus, Hi... |
ORPHA:3132 |
Intellectual Developmental Disorder, X-Linked 9 |
|
Short distal phalanx of finger |
OMIM:309549 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Progressive cerebellar ataxia, Corneal opacity, Corneal dystrophy, Ataxia |
ORPHA:3177 |
Polydactyly, Postaxial, Type A6 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Broad phalanges of the 5th finger |
OMIM:615226 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Micrognathia, Hypoplasia of the thymus, Narrow chest, Genu varum, Long toe, Hypospadi... |
OMIM:264090 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Short middle phalanx of the 5th finger, Thoracic kyphoscoliosis, Cutaneous finger syndactyly, Hip... |
OMIM:203550 |
Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Epiphyseal stippling, Abnormal epiphysis morphology, Scoliosis, Limb undergrowth, Abn... |
ORPHA:177 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Hypoplasia of penis, Micromelia, Postaxial hand polydactyly, Split hand, Abnormali... |
ORPHA:2491 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Short ribs, Bell-shaped thorax |
OMIM:187750 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Short thorax, Abnormal... |
ORPHA:582 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Pectus excavatum, Abnormal diaphysis morphology, Na... |
ORPHA:1515 |
Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t... |
ORPHA:90650 |
Achondrogenesis Type 1B |
|
Micromelia, Micrognathia, Short neck, Short thorax, Abnormal rib morphology, Short foot, Narrow c... |
ORPHA:93298 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy... |
OMIM:150250 |
Synostoses, Tarsal, Carpal, And Digital |
|
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... |
OMIM:186400 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Talipes equinovarus... |
OMIM:607143 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly |
ORPHA:2956 |
Wilson Disease |
|
Acute hepatic failure, Increased body weight, Acute hepatitis, Hepatic steatosis, Hepatomegaly, H... |
ORPHA:905 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Short neck, Hypo... |
OMIM:187600 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Talipes, Coxa valga, Elbow dislocation, Metatarsus adductus, Avascular ne... |
ORPHA:2557 |
Sheldon-Hall Syndrome |
|
Ulnar deviation of the wrist, Tarsal synostosis, Micrognathia, Short neck, Adducted thumb, Ulnar ... |
ORPHA:1147 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Winchester Syndrome |
|
Osteolysis involving tarsal bones, Corneal opacity, Broad metacarpals, Carpal osteolysis |
OMIM:277950 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypospadias, Corneal opacity, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Microp... |
OMIM:618815 |
Bardet-Biedl Syndrome 19 |
|
Mesoaxial hand polydactyly, External genital hypoplasia, Postaxial polydactyly, Patent ductus art... |
OMIM:615996 |
Gapo Syndrome |
|
Abnormal clavicle morphology, Dysmenorrhea, Micrognathia, Abnormal thorax morphology, Abnormal fo... |
ORPHA:2067 |
Pde4D Haploinsufficiency Syndrome |
|
Pes planus, Short metacarpal, Broad hallux, Micrognathia, Short toe, Short metatarsal, Upper limb... |
ORPHA:439822 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Pectus excavatum, Macroorchidism, Polymicrogyria, Adducted thumb |
OMIM:618874 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Pectus excavatum, Thoracic kyphosis, Clinodactyly, Pes cavus |
OMIM:619092 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Hepatomegaly, Inguinal hernia, Cataract, Corneal opacity, Ataxia, Optic ... |
ORPHA:93400 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Micrognathia, Short neck, Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the... |
ORPHA:1486 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi... |
OMIM:313400 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Laurence-Moon Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Cataract, Bilateral si... |
ORPHA:2377 |
Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
Meckel Syndrome, Type 8 |
|
Narrow chest, Polydactyly, Talipes equinovarus, Short neck |
OMIM:613885 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... |
ORPHA:93296 |
Osteoglophonic Dysplasia |
|
Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, Broad metacar... |
OMIM:166250 |
Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity, Diabetes mellitus, Hearing impairment, Tapered finger, Patchy palmopla... |
ORPHA:317 |
Grange Syndrome |
|
Syndactyly, Short palm |
ORPHA:79094 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... |
ORPHA:2347 |
Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Abnormal rib morphology, Abnormal for... |
ORPHA:2876 |
Schizophrenia 1 |
|
Syndactyly, Short proximal phalanx of the 4th toe |
OMIM:181510 |
Acrootoocular Syndrome |
|
Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge... |
ORPHA:2980 |
Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Corneal opacity, Ataxia, Splenomegaly, Flexion contracture, Umbili... |
ORPHA:87876 |
Kinsship Syndrome |
|
Pes planus, Sacral dimple, Single transverse palmar crease, Coxa valga, Micrognathia, Short neck,... |
OMIM:619297 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir... |
ORPHA:1422 |
Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scolio... |
ORPHA:2180 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Mic... |
ORPHA:1225 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Optic atrophy, Hearing impairment |
OMIM:165300 |
Thanatophoric Dysplasia |
|
Micromelia, Abnormal sacroiliac joint morphology, Kyphosis, Short thorax, Patent ductus arteriosu... |
ORPHA:2655 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
Developmental And Epileptic Encephalopathy 36 |
|
Hepatomegaly, Flexion contracture, Optic atrophy, Small hand, Hypsarrhythmia, Low-set ears, Self-... |
OMIM:300884 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... |
ORPHA:2345 |
Diaphanospondylodysostosis |
|
Short neck, Missing ribs, Short thorax, Narrow pelvis bone, Enlarged thorax, Absent or minimally ... |
ORPHA:66637 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperextensibility of the finger joints, Arachnodactyly, Micrognathia, Pectus excavatum, Macroorc... |
OMIM:309520 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Palmoplantar keratoderma |
OMIM:613576 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Microretrognathia, Bowing of the long bones, Multiple rib fractures, Rhizomeli... |
OMIM:616229 |
Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ... |
ORPHA:79445 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Bowing of the legs, Spinal canal stenosis, Trapezoidal distal femor... |
OMIM:307800 |
Becker Nevus Syndrome |
|
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis |
OMIM:604919 |
Joubert Syndrome 37 |
|
Prominent metopic ridge, Lumbar hyperlordosis, Postaxial polydactyly, Cryptorchidism, Micropenis,... |
OMIM:619185 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
11 pairs of ribs, Hip contracture, Micrognathia, Metatarsus adductus, Short neck, Calcaneovalgus ... |
OMIM:616266 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Pes planus, Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly of t... |
OMIM:619721 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, S... |
ORPHA:1772 |
Ring Chromosome 6 Syndrome |
|
Short neck, Short distal phalanx of finger |
ORPHA:1448 |
Holzgreve Syndrome |
|
Hand polydactyly |
OMIM:236110 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Premature ovarian insufficiency, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, ... |
ORPHA:2928 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... |
OMIM:253000 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... |
ORPHA:432 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... |
OMIM:610017 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumb... |
ORPHA:2064 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Hand polydactyly, Abnormal 3rd finger morphology |
OMIM:249670 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... |
ORPHA:314478 |
Arthrogryposis, Distal, Type 5D |
|
Congenital hip dislocation, Limited elbow movement, Short neck, Hyperlordosis, Limited knee flexi... |
OMIM:615065 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Polysyndactyly of hallux |
OMIM:235750 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlargement of the costochondra... |
OMIM:241530 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Barrel-shaped chest, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal widening, Irregula... |
OMIM:612813 |
Slc35A2-Cdg |
|
Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metatarsus adductus, Abnormal long ... |
ORPHA:356961 |
Pseudopseudohypoparathyroidism |
|
Short metacarpal, Short metatarsal, Short neck, Brachydactyly |
OMIM:612463 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Micromelia, Short neck, Wide distal femoral metaphysis, Delayed epiphyseal... |
OMIM:613320 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Phocomelia, Vertebral segmentation defect, Split hand, Foot polydactyly |
ORPHA:3004 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Kyphoscoliosis, Genu recurvatum, S... |
OMIM:604168 |
Nievergelt Syndrome |
|
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... |
OMIM:163400 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of the knee, Lumbar hyperlordosis, Broad hallux, External genital hypoplasia, Short n... |
ORPHA:251028 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Hypoplastic iliac wing, Abnormal vertebra... |
ORPHA:93315 |
Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly |
OMIM:149000 |
Joubert Syndrome 33 |
|
Syndactyly |
OMIM:617767 |
Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Foot polydactyly |
ORPHA:2155 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Obesity, Bilateral coxa valga, Hypertrophic cardiomyo... |
OMIM:620270 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... |
OMIM:617087 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... |
OMIM:200600 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic disc pallor, Diabetes mellitus, Sensorineural hearing impairment, Optic atrophy, Depression... |
OMIM:614296 |
Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Spina bifida occulta, Micrognathia |
ORPHA:1514 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Galactosialidosis |
|
Cherry red spot of the macula, Corneal opacity, Hearing impairment |
ORPHA:351 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Patent ductus arteriosus, Abnormal ... |
ORPHA:2970 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Joubert Syndrome 7 |
|
Postaxial hand polydactyly, Scoliosis, Postaxial polydactyly, Genu valgum |
OMIM:611560 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Cataract, Small for gestational age, Congenital bilateral hip dislocation, Talipes... |
ORPHA:85288 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, S... |
OMIM:200610 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Polydactyly |
OMIM:602501 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Genu recurvatum, Short neck, Tibial bowing, Knee dislocation, Shoulder dislocation, Irregular ver... |
OMIM:143095 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Micrognathia, Kyphosis, Abnormal rib morphology, A... |
ORPHA:2050 |
Osteogenesis Imperfecta, Type X |
|
Multiple rib fractures, Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, Mi... |
OMIM:613848 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, Short thumb, El... |
ORPHA:2538 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Micromelia, Micrognathia, Short neck, Short thorax, Short foot, Narrow ch... |
ORPHA:93299 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Caffey Disease |
|
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs |
OMIM:114000 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Micrognathia, Split hand, Abnormal rib morphology, Brachydactyly |
ORPHA:2145 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ... |
ORPHA:93324 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, ... |
ORPHA:496790 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Hemivertebrae, Gonadotropin deficiency, Micropenis, Aplasia/hy... |
ORPHA:672 |
Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... |
OMIM:615962 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Micrognathia, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, C... |
ORPHA:251014 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Pectus excavatum, Pes planus, Calcaneovalgus deformity, Genu recurvatum |
OMIM:225320 |
Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis, Pseudoarthrosis |
OMIM:618155 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Kyphoscoliosis |
ORPHA:3077 |
Three M Syndrome 1 |
|
Joint dislocation, Pes planus, Scapular winging, Hypospadias, Short neck, Hyperlordosis, Increase... |
OMIM:273750 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyly of the 5th finger, R... |
OMIM:210720 |
Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Short metacarpal, Thoracolumbar kyphoscoliosis, Hip subluxation, Pec... |
OMIM:618853 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... |
ORPHA:2911 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Syndactyly, Hypospadias, Dysmenorrhea, Micrognathia, Cryptorchidism, Abnormality o... |
ORPHA:397590 |
6P22 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Short neck |
ORPHA:251046 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... |
ORPHA:1145 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, T... |
ORPHA:1120 |
Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislocation, Postaxial ... |
OMIM:241800 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand |
OMIM:603543 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Joint dislocation, Thoracic scoliosis, Equinus calcaneus, Micrognathia, Knee dislocation, Shoulde... |
ORPHA:536532 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... |
ORPHA:1860 |
Alpha-Mannosidosis |
|
Hepatomegaly, Bowing of the long bones, Inguinal hernia, Corneal opacity, Cataract, Splenomegaly,... |
ORPHA:61 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Arachnodactyly, Kyphoscoliosis, Metatarsus adductus, Cryptorchidism, Pectus excavatum, Calcaneova... |
OMIM:612513 |
Mucolipidosis Type Iii |
|
Inguinal hernia, Abnormal heart valve morphology, Corneal opacity, Abnormal aortic valve morpholo... |
ORPHA:577 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
3-4 finger syndactyly, 2-3 toe syndactyly |
OMIM:600906 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal bone resorption, ... |
OMIM:264700 |
Mohr Syndrome |
|
Syndactyly, Micrognathia, Pectus excavatum, Preaxial hand polydactyly, Postaxial hand polydactyly... |
OMIM:252100 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Abnormal rib morphology, Hand polydac... |
ORPHA:2167 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Meckel Syndrome, Type 9 |
|
Ambiguous genitalia, Limb undergrowth, Talipes equinovarus |
OMIM:614209 |
Gm1 Gangliosidosis |
|
Cherry red spot of the macula, Ataxia, Retinopathy of prematurity, Hepatosplenomegaly, Cardiomyop... |
ORPHA:354 |
Pelger-Huet Anomaly |
|
Kyphosis, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Pes cavus, Short 4th metacar... |
OMIM:169400 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
Thanatophoric Dysplasia Type 2 |
|
Micromelia, Kyphosis, Patent ductus arteriosus, Short thorax, Abnormality of neuronal migration, ... |
ORPHA:93274 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Long palm, Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of... |
ORPHA:2759 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Scoliosis, Short femur, Foot oligodactyly, Amelia |
OMIM:601357 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Micropenis, Hepatomegaly, Hypospadias, Cryptorchidism, Postaxial foot polydactyly, De... |
OMIM:301056 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Wide penis, Hypoplastic vertebral bodies, ... |
ORPHA:3455 |
Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:607361 |
Martsolf Syndrome 1 |
|
Pes planus, Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Micrognathia, Metatarsus ... |
OMIM:212720 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Diaphyseal sclerosis |
OMIM:122860 |
Carpenter Syndrome 1 |
|
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Microcornea, Atri... |
OMIM:201000 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Fused cervical vertebrae, Thoracic hemivertebrae, Short middle phalanx of finger, Scoliosis |
OMIM:309620 |
Satoyoshi Syndrome |
|
Pes planus, Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, ... |
OMIM:600705 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Osteoporosis-Pseudoglioma Syndrome |
|
Waddling gait, Retinal detachment, Crumpled long bones, Corneal opacity, Isosexual precocious pub... |
ORPHA:2788 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Renpenning Syndrome |
|
Diabetes mellitus, Hypospadias, Abnormal thumb morphology, Pectus excavatum, Abnormal rib morphol... |
ORPHA:3242 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Short long bone, Narrow chest, Flared elbow metaphyses, Limb undergrowth |
ORPHA:1423 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal vertebral morphology |
ORPHA:261272 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Clinodactyly, Short finger |
OMIM:300049 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Brachydactyly, Single transverse palmar crease, Short first metatarsal, Prominent interdigital fo... |
OMIM:601957 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Short neck, Tripha... |
ORPHA:2994 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Coxa valga, Short tubular bones of the hand, Micrognathia, Abnormal foot morphology, Vertebral ar... |
ORPHA:85184 |
X-Linked Intellectual Disability, Hedera Type |
|
Pes planus, Calcaneovalgus deformity, Absent Achilles reflex, Scoliosis, Hyporeflexia of upper li... |
ORPHA:93952 |
Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Polydactyly, Postaxial hand polydactyly |
OMIM:603194 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Single transverse palmar crease, Micromelia, Micrognathia, Adrenal hypoplasia, Pre... |
OMIM:612651 |
Eem Syndrome |
|
Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Micrognathia, Short first metatarsal, Short 5th toe, Prominent fingerti... |
OMIM:613684 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Micrognathia, Pectus excavatum, Short neck, Hyperlordosis, Kyphosis... |
ORPHA:2522 |
Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Symphalangism affecting the phalange... |
ORPHA:710 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Podagra, Hip dislocation |
OMIM:300322 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Lower limb asymmetry, Micrognathia, Cryptorchidism, Abnormal femur morph... |
ORPHA:2063 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand... |
OMIM:175700 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Micrognathia, Short neck, Kyphosis, Short foot, Abnormal... |
ORPHA:3409 |
Campomelia, Cumming Type |
|
Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Abnormal thorax morphology, ... |
ORPHA:1318 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... |
ORPHA:93258 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Ulnar deviation of the hand, Hypogonadotropic hypog... |
ORPHA:157954 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Absent phalangeal crease, Fused cervical... |
OMIM:618469 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Multiple Synostoses Syndrome 4 |
|
Pes planus, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly |
OMIM:617898 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... |
ORPHA:1517 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... |
ORPHA:50809 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Corneal opacity, Congenital diaphragmatic hernia, Wrist swelling, In... |
OMIM:166300 |
Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
Harel-Yoon Syndrome |
|
Peripheral axonal neuropathy, Corneal opacity, Ataxia, Inability to walk, Optic atrophy, Developm... |
OMIM:617183 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Split hand, Short long bo... |
OMIM:252600 |
Osteogenesis Imperfecta, Type Xviii |
|
Bowing of the long bones, Micrognathia, Thin ribs, Femoral bowing, Biconcave vertebral bodies, Ve... |
OMIM:617952 |
Cranioectodermal Dysplasia 1 |
|
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista... |
OMIM:218330 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Short neck, Micrognathia, Hemivertebrae, Tibial bowing, Narrow c... |
ORPHA:96334 |
Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Cervical ribs |
ORPHA:66630 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, C... |
ORPHA:1473 |
Dysosteosclerosis |
|
Clavicular sclerosis, Micrognathia, Absent frontal sinuses, Sclerotic scapulae, Increased interve... |
OMIM:224300 |
Autosomal Recessive Spastic Paraplegia Type 45 |
|
Ankle flexion contracture, Optic atrophy, Knee flexion contracture, Flexion contracture of toe, S... |
ORPHA:320396 |
46,Xx Sex Reversal 5 |
|
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level |
OMIM:618901 |
Xylt1-Cdg |
|
Pes planus, Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clavicles, ... |
ORPHA:370930 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Aggressive behavior, Chor... |
OMIM:152950 |
Hogue-Janssen Syndrome 2 |
|
Broad hallux, Postaxial polydactyly, Pectus excavatum, Hip dysplasia, Scoliosis, Deviation of the... |
OMIM:616362 |
Zechi-Ceide Syndrome |
|
Sandal gap, Long foot, Short metatarsal, Short distal phalanx of finger |
OMIM:612916 |
Arthrogryposis, Distal, Type 4 |
|
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Equinovarus deformity, Kyphosis... |
OMIM:609128 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... |
OMIM:601596 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Micrognathia, Kyphosis, Thin ribs, Tibial bowing, Slender long bone, Scolios... |
OMIM:259420 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Short palm, Hepatomegaly, Elevated hepatic transaminase, Toe syndactyly, Posteriorly rotated ears... |
OMIM:618958 |
Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials, Anorexia, Decreased body weight, Failure to thrive |
ORPHA:99852 |
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Short distal phalanx of finger, Brachytelomesophalangy |
ORPHA:1547 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Micrognathia |
OMIM:602196 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Decreased serum testosterone concentration, Brachydactyly, Premature ov... |
ORPHA:2959 |
Osteoglosphonic Dysplasia |
|
Abnormal clavicle morphology, Rhizomelia, Craniosynostosis, Micrognathia, Cryptorchidism, Abnorma... |
ORPHA:2645 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Failure to thrive, Cataract, Single transverse pal... |
OMIM:214110 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Barrel-shaped chest, Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivo... |
OMIM:226980 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly |
OMIM:226700 |
Wolfram-Like Syndrome |
|
Peripheral axonal neuropathy, Diabetes mellitus, Abnormal pinna morphology, Congenital sensorineu... |
ORPHA:411590 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Delayed cranial suture closure, Decreased circulatin... |
ORPHA:90674 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal... |
OMIM:215045 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal bone resorption, ... |
OMIM:277440 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Failure to thrive, Posteriorly rotated ears, Small for gestational age, Tapered fi... |
OMIM:609425 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Lower limb asymmetry, Micrognathia, Cryptorchidism, Kyphosis, 2-3 toe synd... |
ORPHA:404440 |
Joubert Syndrome 15 |
|
Preaxial polydactyly |
OMIM:614464 |
Multiple Sulfatase Deficiency |
|
Broad hallux phalanx, Abnormality of retinal pigmentation, Hepatomegaly, Corneal opacity, Catarac... |
ORPHA:585 |
Nescav Syndrome |
|
Peripheral axonal neuropathy, Ataxia, Inability to walk, Flexion contracture, Optic atrophy, Tali... |
OMIM:614255 |
Ophthalmomandibulomelic Dysplasia |
|
Corneal opacity, Camptodactyly of finger, Micromelia, Elbow dislocation, Lateral humeral condyle ... |
ORPHA:2741 |
Larsen-Like Syndrome |
|
Kyphoscoliosis, Talipes equinovarus, Radial deviation of the 4th finger, Clinodactyly of the 5th ... |
OMIM:608545 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Reduced sperm motility, Infertility, Scoliosis, Abnormal sperm morphology, Pes cavus, Decreased t... |
ORPHA:320391 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Cataract, Vacuolated lymphocytes, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular ... |
OMIM:204200 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Limb undergrowth, Abnormal limb bone morphology, Abnormality of neuronal migration |
ORPHA:2204 |
Zellweger Syndrome |
|
Hepatomegaly, Posterior embryotoxon, Cataract, Ventricular septal defect, Abnormal chorioretinal ... |
ORPHA:912 |
Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micrognathia, Hyperlordosis, Vertebral segmentation d... |
ORPHA:1323 |
Meckel Syndrome, Type 10 |
|
Sacral dimple, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, Po... |
OMIM:614175 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Congenital bilateral hip dislocation |
ORPHA:404451 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Sacral dimple, Prominent metopic ridge, Overlapping toe, Postaxial polydactyly, Tapered finger, M... |
OMIM:613792 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tap... |
OMIM:609638 |
Mesomelia-Synostoses Syndrome |
|
Abnormality of the knee, Brachydactyly, Micromelia, Abnormality of the hand, Abnormality of the h... |
ORPHA:2496 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... |
ORPHA:1553 |
Mucopolysaccharidosis, Type X |
|
Spatulate ribs, Broad clavicles, Hyperlordosis, Genu valgum, Hip dysplasia, Broad ribs, Posterior... |
OMIM:619698 |
Tarsal-Carpal Coalition Syndrome |
|
Abnormality of the ankle, Tarsal synostosis |
ORPHA:1412 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Prominent calcaneus, Cryptorchidism, Ankle clonus, Scoliosis |
ORPHA:565624 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Waddling gait, Inguinal hernia, Cataract, Posteriorly rotated ears, Small for gestational age, De... |
OMIM:618392 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Postaxial polydactyly, Micrognathia, Patent ductus arteriosus, Preaxial polydact... |
OMIM:618142 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Short neck, Equinovarus deformity, Microg... |
OMIM:224400 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Kyphosis, Genu valgum, Broad ribs, Abno... |
ORPHA:583 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Micrognathia, Metaphyseal widening, Abnormal thorax morphology, Abnormal form of the vertebral bo... |
ORPHA:73230 |
Hall-Riggs Syndrome |
|
Platyspondyly, Abnormal epiphysis morphology, Scoliosis, Limb undergrowth, Abnormal metaphysis mo... |
ORPHA:2107 |
Crane-Heise Syndrome |
|
Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ... |
ORPHA:1512 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Hypospadias, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly |
ORPHA:313781 |
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 |
Robinow Syndrome |
|
Small scrotum, External genital hypoplasia, Micrognathia, Hemivertebrae, Clitoral hypoplasia, Web... |
ORPHA:97360 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Pectus excavatum, Micrognathia, Short distal phalanx of finger, Ulnar deviation of finger |
ORPHA:2013 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Short metacarpal, Cataract, Short thumb, Cryptorchidism, Abnormal antihelix morphology, Chorioret... |
ORPHA:2489 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypoplastic ilia, Hume... |
ORPHA:93333 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Bifid scrotum, Finger syndactyly, Small scrotum, Toe syndactyly, Micrognathia, Cryptorchidism, Sp... |
ORPHA:1300 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Metatarsus adductus, Elbow dis... |
ORPHA:2249 |
Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Adenoiditis, Flexion contracture, Conductive hearing impairment, Thickened helices,... |
ORPHA:581 |
Morm Syndrome |
|
Hyperactivity, Retinal atrophy, Retinal dystrophy, Cataract, Aggressive behavior, Truncal obesity... |
ORPHA:75858 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Peripheral axonal neuropathy, Facial palsy, Ankle flexion co... |
OMIM:617519 |
Sialidosis Type 1 |
|
Cataract, Corneal opacity, Ataxia, Decreased nerve conduction velocity, Splenomegaly, Sensorineur... |
ORPHA:812 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Neonatal epiphyseal stippling, Short metatarsal, Elevated circulating thyroid-stimulating hormone... |
OMIM:101800 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Congenital hip dislocation, Limited elbow movement, Cardiomegaly, Camptodactyly of toe, Waddling ... |
OMIM:300280 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Abnormal vitreou... |
ORPHA:90654 |
Marinesco-Sjogren Syndrome |
|
Pes planus, Short metacarpal, Hypergonadotropic hypogonadism, Coxa valga, Kyphosis, Short metatar... |
OMIM:248800 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Hypoplastic vertebral bodies, Short distal phalanx of finger, Coxa valga |
OMIM:601370 |
Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Short toe, Short phalanx of finger, Type E brachydactyly |
OMIM:600430 |
Ellis-Van Creveld Syndrome |
|
Hypospadias, Epispadias, Cryptorchidism, Capitate-hamate fusion, Postaxial hand polydactyly, Genu... |
OMIM:225500 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Segmental peripheral demyelination/remy... |
OMIM:601455 |
Aarskog-Scott Syndrome |
|
Finger syndactyly, Pes planus, Genu recurvatum, Single transverse palmar crease, Camptodactyly of... |
ORPHA:915 |
Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia |
OMIM:615703 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity, External genital hypoplasia, Tapered finger, Cryptorchidism, Abnormal ... |
ORPHA:1867 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Micrognathia, Cryptorchidism, Ulnar bowing, Shortening of all distal phal... |
OMIM:619135 |
Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o... |
OMIM:614900 |
Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Cataract, Ataxia, Optic atrophy, Depression, Adult onset sensorineural hearing impairment, Dyspha... |
ORPHA:329314 |
Mucopolysaccharidosis, Type Ivb |
|
Ulnar deviation of the wrist, Ovoid vertebral bodies, Coxa valga, Epiphyseal deformities of tubul... |
OMIM:253010 |
16P13.11 Microduplication Syndrome |
|
Pectus excavatum, Pes planus, Hand polydactyly, Arachnodactyly |
ORPHA:261243 |
Trisomy 13 |
|
Cryptorchidism, Postaxial hand polydactyly, Kyphosis, Abnormal rib morphology, Patent ductus arte... |
ORPHA:3378 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Increased intervertebral space, Narrow greater sciatic notc... |
ORPHA:508533 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Ovarian fibroma, Down-sloping shoulders, Kyphoscoliosis, Palmar pits, Plantar p... |
OMIM:109400 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Premature ovarian insufficiency, Cataract, Unsteady gait, Optic atrophy, Secondary amenorrhea |
OMIM:620312 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Abno... |
ORPHA:1488 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Micrognathia, Hemivertebrae, Clitoral hypoplasia, Short palm, Thoracic hemivertebrae,... |
OMIM:268310 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epip... |
ORPHA:93357 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... |
OMIM:202010 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Optic atrophy, Elbow flexion contracture, A... |
OMIM:619470 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
Larsen Syndrome |
|
Finger syndactyly, Accessory carpal bones, Vertebral segmentation defect, Abnormal epiphysis morp... |
ORPHA:503 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Foot joint contracture, Decreased nerve conduction velocity, Cryptorchidism, Inability to walk, O... |
ORPHA:457205 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Hyperlordosis, Abnormal rib morphology, Pectu... |
ORPHA:3068 |
Mucous Membrane Pemphigoid |
|
Atypical scarring of skin, Corneal opacity |
ORPHA:46486 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormality of the hand, Abnormal foot morphology, Abnormal diaphysis morpholo... |
ORPHA:1657 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Metaphyseal widening, Coxa vara, Thoracic kyphosis, Lumbar interpedicular narrowing, Genu varum, ... |
OMIM:271510 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morph... |
ORPHA:208441 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Arachnodactyly, Increased circulating gonadotropin... |
ORPHA:243 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
1-5 finger complete cutaneous syndactyly |
ORPHA:2266 |
Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... |
OMIM:305620 |
Achondrogenesis, Type Ib |
|
Micromelia, Hypoplastic ilia, Narrow chest, Absent or minimally ossified vertebral bodies, Short ... |
OMIM:600972 |
Spondyloepiphyseal Dysplasia Congenita |
|
Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short ... |
OMIM:183900 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bone, Short palm |
OMIM:244460 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short neck, Abnormal rib morphology, Azoospermia, Vertebral segmentation defect, Bicornuate uteru... |
ORPHA:2578 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Ataxia, Flexion contracture, Optic atrophy, Vacuolated lymphocytes, Depression, Macular degenerat... |
OMIM:256730 |
Neuraminidase Deficiency |
|
Hepatomegaly, Inguinal hernia, Cataract, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Sens... |
OMIM:256550 |
Cat-Eye Syndrome |
|
Hip dysplasia, Abnormal rib morphology |
ORPHA:195 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Hand polydactyly |
OMIM:235740 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Hepatomegaly, Cataract, Fundus atrophy, Sensorineural hearing impairment, Optic disc... |
OMIM:204000 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Micromelia, Proximal placement of thumb, Short neck, Micrognathia, Abnormali... |
ORPHA:199 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:1647 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Hypoparathyroidism, Bilateral single transverse palmar creases, Micromelia, Sho... |
ORPHA:50810 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Tibial bowi... |
OMIM:610915 |
3P25.3 Microdeletion Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postax... |
ORPHA:435638 |
Aspartylglucosaminuria |
|
Pes planus, Abnormal morphology of ulna, Pectus carinatum, Arthritis, Scoliosis, Anterior beaking... |
ORPHA:93 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Sacral dimple, Broad hallux, Hand polydactyly, Broad thumb |
OMIM:239710 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Optic atrophy, Pigmentary retinopathy, Irritability,... |
OMIM:264470 |
Kbg Syndrome |
|
Vertebral fusion, Single transverse palmar crease, Short neck, Cutaneous syndactyly, Finger clino... |
ORPHA:2332 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Failure to thri... |
ORPHA:858 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal radio-ulnar synostosis, Brachydactyly, Duplication of thumb phalanx, Short hallux, Tibia... |
ORPHA:363417 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Clinodactyly, Macrotia, Optic atrophy |
OMIM:300928 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... |
OMIM:184460 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Single transverse palmar crease, Short neck, Micrognathia, Vertebral segmenta... |
OMIM:611209 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Inguinal hernia, Hyperactivity, Small for gestational age, Decreased palmar creases, Abnormal rep... |
ORPHA:352490 |
Hypophosphatasia, Infantile |
|
Micromelia, Bowing of the legs, Craniosynostosis, Vertebral clefting, Platyspondyly, Short ribs, ... |
OMIM:241500 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short metacarpal, Toe syndactyly, Scapular winging, Micrognathia, Short metatarsal, Small hand, S... |
OMIM:170390 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Diabetes mellitus, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Short 5th finger, Scoli... |
ORPHA:500159 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Short hallux, Abnormal metacarpal morphology, Pes cavus, Abnor... |
ORPHA:3224 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Cataract, Ventricular septal defect, Elevated circulating aspartate aminotransferas... |
OMIM:614876 |
Say Syndrome |
|
Ulnar deviation of the 3rd finger, Micrognathia, Short distal phalanx of finger, Tapered finger |
OMIM:181180 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Thoracolumbar scoliosis, Preaxial hand polydactyly, Cervical ribs, Talipes equinovarus, Sprengel ... |
OMIM:601389 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Short neck, Kyphosis, Small hand, Short foot, Scoliosis, Short palm |
ORPHA:238750 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Supernumerary nipple, Cryptorchidism, Postaxial hand polydactyly, Patent ductus arteriosus, Abnor... |
ORPHA:2519 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Brachydactyly, Sacral dimple, Kyphoscoliosis, Micrognathia, Cryptorchidism, Partial duplication o... |
OMIM:616331 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Abnormal carpal morphology, Madelung deformity, Primary amenorrhea, Bilateral breast hypoplasia, ... |
ORPHA:319675 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Abnor... |
ORPHA:352540 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short metacarpal, Short fourth metatarsal, Overlapping toe, Thoracolumbar scoliosis, Short neck, ... |
OMIM:616723 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Down-sloping shoulders, Tapered finger, Abnormal thumb morphology, Microgna... |
ORPHA:1452 |
Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short neck, Short toe, Short metatarsal, Pseudohypoparathyroidism, Elevated cir... |
OMIM:103580 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Short neck, Thoracic dysplasia, Narrow chest, Short palm, Short toe, Short th... |
OMIM:269860 |
Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux |
OMIM:263630 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... |
OMIM:125250 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Barrel-shaped chest, Lumbar hyperlordosis, Rhizomelia, Short neck, Mesomelia, Broad thumb, Brachy... |
ORPHA:171866 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Impulsivity, Optic atrophy, Depression, Irritability, Gait disturbance, Compulsive behaviors, Dys... |
ORPHA:216873 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Small scrotum, Arachnodactyly, Long palm, Camptodacty... |
ORPHA:2215 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Craniometadiaphyseal Dysplasia |
|
Broad long bones, Coxa valga, Flared metaphysis, Genu valgum, Absent paranasal sinuses, Broad rib... |
OMIM:269300 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormal retinal morphology, Rocker bottom foot, Low-set ears, Dysphagia, Atrial septal defect, H... |
ORPHA:89844 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Decreased serum testosterone concentration, Premature ovarian insufficiency, Pes cavus, Scoliosis |
ORPHA:101006 |
Cardioacrofacial Dysplasia 2 |
|
Recurrent patellar dislocation, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot... |
OMIM:619143 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Micrognathia, Cryptorchidism, Abnormal rib morphology, Abnormal form of t... |
ORPHA:52 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
3Mc Syndrome 3 |
|
Bifid scrotum, Sacral dimple, Cryptorchidism, Clinodactyly, Preaxial polydactyly, Radioulnar syno... |
OMIM:248340 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:312863 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Slender long bone, Thin ribs, Micrognathia, Brachydactyly |
OMIM:618265 |
Wilson-Turner Syndrome |
|
Cataract, Hypogonadotropic hypogonadism, Uplifted earlobe, Tapered finger, Cryptorchidism, Small ... |
ORPHA:3459 |
Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Short neck, Elevated circulating thyroid-stimulating hormone concentration, Sho... |
OMIM:612462 |
Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Single transverse palmar crease, Cryptorchidism, Polydactyly, Clinodactyly, Br... |
OMIM:618950 |
Arteriosclerosis, Severe Juvenile |
|
Hip dysplasia, Dysplasia of second lumbar vertebra, Short phalanx of finger |
OMIM:208060 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... |
OMIM:616648 |
Vacterl/Vater Association |
|
Bifid scrotum, Finger syndactyly, Hypoplasia of penis, Abnormal intervertebral disk morphology, H... |
ORPHA:887 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Atrial septal defect, Hyperactivity, Nail-biting, Decreased response to growth hor... |
ORPHA:485405 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Pectus carinatum, Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, Hyposp... |
OMIM:312870 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Th... |
ORPHA:249 |
Keipert Syndrome |
|
Broad hallux phalanx, Short hallux, Aplasia/Hypoplasia of the distal phalanges of the toes, Broad... |
ORPHA:2662 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Optic atrophy, Hepatosplenomegaly, Gait ataxia, Progressive cerebellar ata... |
ORPHA:466794 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, ... |
ORPHA:99776 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Sacral dimple, Short hallux, Proximal placemen... |
ORPHA:2438 |
Aniridia And Absent Patella |
|
Aplasia/Hypoplasia of the patella |
OMIM:106220 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Coxa vara, Abnormal hip joint morphology, Arthralgia of the hip, Waddling gait, Abnormal acetabul... |
ORPHA:166011 |
Fragile X Syndrome |
|
Macroorchidism, Pes planus |
ORPHA:908 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Corneal arcus, Joint contrac... |
OMIM:602782 |
Cockayne Syndrome A |
|
Abnormal peripheral myelination, Ivory epiphyses of the phalanges of the hand, Square pelvis bone... |
OMIM:216400 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Cataract, Hypogonadism, Gait disturbance, Cubitus valgus, Abnormality ... |
ORPHA:1875 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Maternal diabetes, Hemivertebrae, ... |
OMIM:134780 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Abnormal thorax morphology, Hemive... |
OMIM:302960 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Mixed hearing impairment, Pancytopenia, Corneal opacity, Cataract, Ataxia, Dep... |
ORPHA:309288 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... |
ORPHA:40366 |
Gómez-López-Hernández Syndrome |
|
Ataxia, Corneal opacity, Low-set ears |
ORPHA:1532 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi... |
ORPHA:175 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Mulibrey Nanism |
|
Hepatomegaly, Single transverse palmar crease, Corneal dystrophy, Cardiomegaly, Thickened cortex ... |
OMIM:253250 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Talipes, Abnormal rib morphology, Femoral bowing, Narrow... |
ORPHA:83 |
Cerebrotendinous Xanthomatosis |
|
Abnormal tibia morphology, Axonal degeneration, Abnormal finger morphology, Abnormal femur morpho... |
ORPHA:909 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Irregular menstruation, Tibial bowing, Femoral bowing... |
OMIM:616482 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification... |
OMIM:300554 |
Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
Mucolipidosis Iv |
|
Corneal opacity, Optic atrophy, Hypergastrinemia, Opacification of the corneal stroma, Retinal de... |
OMIM:252650 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-4 finger syndactyly, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous finger syndact... |
OMIM:613573 |
Kagami-Ogata Syndrome |
|
Long clavicles, Kyphoscoliosis, Coxa valga, Micrognathia, Long fingers, Patent ductus arteriosus,... |
OMIM:608149 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Wiedemann-Steiner Syndrome |
|
Pes planus, Sacral dimple, Tapered finger, Micrognathia, Contracture of the distal interphalangea... |
OMIM:605130 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Cataract, Ataxia, Macular coloboma, Abnormal auditory evoked potentials, Macul... |
OMIM:619260 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ocular anterior segment dysgenesis, Patent foramen ovale, Syndactyly, Hyperactivity, Ataxia, Cryp... |
ORPHA:369891 |
Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Abnormal retinal... |
ORPHA:791 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
Combined Saposin Deficiency |
|
Splenomegaly, Hepatomegaly, Optic atrophy |
OMIM:611721 |
Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Olig... |
ORPHA:69085 |
Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Optic nerve hypoplasia, Splenomegaly, Macrotia, Gait apraxia, Optic atroph... |
OMIM:617302 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Narr... |
OMIM:600920 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum |
OMIM:258850 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Talipes equinovarus, Re... |
OMIM:616171 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Camptodactyly |
OMIM:616006 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... |
OMIM:271640 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Rothmund-Thomson Syndrome |
|
Hypoplasia of the ulna, Plantar hyperkeratosis, Aplasia/Hypoplasia of the patella, Short thumb, A... |
ORPHA:2909 |
8p23.1 deletion syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal heart morphology, Atrial... |
DECIPHER:39 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Micrognathia, Short neck, Small hand, Abnormal form of the vertebral bodies, S... |
ORPHA:1787 |
Muenke Syndrome |
|
Broad hallux, Capitate-hamate fusion, Cone-shaped epiphyses of the phalanges of the hand, Short m... |
OMIM:602849 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Postaxial polydactyly, Knee flexion contracture |
OMIM:603387 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Hepatic fibrosis, M... |
OMIM:209900 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Hypergonadotropic hypogonadism, Ataxia, Depression, Pigmentary retinopathy, Abnormality... |
OMIM:614307 |
Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Prominent interphalangeal joints, Clinodactyly of the 5th finger... |
OMIM:135900 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Short femur, Talipes equinovarus |
OMIM:620306 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ... |
ORPHA:3201 |
Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Micromelia |
ORPHA:85175 |
Cleidocranial Dysplasia 2 |
|
Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delayed ossificat... |
OMIM:620099 |
Salt And Pepper Developmental Regression Syndrome |
|
Optic atrophy, Multifocal epileptiform discharges, Choreoathetosis, Irritability, Hyporeflexia of... |
OMIM:609056 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Micrognathia, Short neck, Femoral bowing, Short long bone, Broad ribs, Talipe... |
OMIM:617022 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Scoliosis |
ORPHA:79107 |
Myhre Syndrome |
|
Abnormal penis morphology, Brachydactyly, Hypospadias, External genital hypoplasia, Precocious pu... |
ORPHA:2588 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Polydactyly, Complete duplication of thumb phalanx, Short p... |
ORPHA:59315 |
Radio-Renal Syndrome |
|
Micromelia, Micrognathia, Short neck, Hypoplasia of the radius, Abnormality of the elbow, Abnorma... |
ORPHA:3015 |
Pycnodysostosis |
|
Abnormal clavicle morphology, Persistent open anterior fontanelle, Decreased response to growth h... |
ORPHA:763 |
Waardenburg Syndrome, Type 1 |
|
Sprengel anomaly, Supernumerary ribs, Supernumerary vertebrae |
OMIM:193500 |
Codas Syndrome |
|
Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac... |
OMIM:600373 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly |
ORPHA:544254 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossific... |
OMIM:210710 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Micrognathia, Hypothyroidism,... |
ORPHA:444077 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Hallux valgus, Pes planus, Sandal gap, Recurrent shoulder dislocation, Genu recurvatum, Thoracolu... |
ORPHA:230851 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Absent brainstem auditory responses, Hepatomegaly, Failure to thri... |
ORPHA:90321 |
Gm1-Gangliosidosis, Type Ii |
|
Coxa valga, Thoracolumbar kyphosis, Patent ductus arteriosus, Hypoplastic vertebral bodies, Platy... |
OMIM:230600 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Rocker bottom foot, Micrognathia, Talipes equinovalgus, Tibial bowing, Congenital bilateral hip d... |
ORPHA:453510 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor, Vaginal hernia, Cataract, EEG abnormality, Hypertrophic cardiomyopathy, Broad ... |
ORPHA:3173 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... |
OMIM:140000 |
3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate aminotransferase concen... |
OMIM:610198 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Persistent open anterior fontanelle, Wormian bones, Micromelia, Short n... |
ORPHA:1798 |
Filippi Syndrome |
|
Finger clinodactyly, Single transverse palmar crease, Cutaneous syndactyly, 2-4 toe syndactyly |
OMIM:272440 |
Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly |
ORPHA:1997 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Cryptorchidism, Acute leukemia, Hypogonadism, Attention deficit hyperactivity di... |
ORPHA:281090 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly |
OMIM:615631 |
Hurler Syndrome |
|
Hepatomegaly, Inguinal hernia, Hypoplasia of the femoral head, Corneal opacity, Coxa valga, Splen... |
OMIM:607014 |
Infantile Refsum Disease |
|
Hepatomegaly, Failure to thrive, Cataract, Ataxia, Facial palsy, Sensorineural hearing impairment... |
ORPHA:772 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Rocker bottom foot, Cryptorchidism, Optic atrophy, Low-set ears, Hand clenching, Arthrogryposis m... |
OMIM:618766 |
Maxillonasal Dysplasia |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Vertebral clefting, Scoliosis, Patchy dis... |
ORPHA:1248 |
Trisomy 1Q |
|
Microretrognathia, Toe syndactyly, Small scrotum, Arachnodactyly, Camptodactyly of finger, Crypto... |
ORPHA:261344 |
Periventricular Nodular Heterotopia 7 |
|
Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricul... |
OMIM:617201 |
Developmental And Epileptic Encephalopathy 95 |
|
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Cardiomega... |
OMIM:618143 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Sacral dimple, Rocker bottom foot, Proximal placement of thumb, Short neck, Hi... |
OMIM:619762 |
Kbg Syndrome |
|
Syndactyly, Vertebral fusion, Single transverse palmar crease, Short neck, Epispadias, Cryptorchi... |
OMIM:148050 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Broad hallux, Corneal opacity, Ataxia, Splenomegaly, Broad thumb, Peripheral demyel... |
OMIM:272200 |
X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Bowing of the long bones, Bowing of the legs, Beaded ribs, Enlargem... |
ORPHA:89936 |
Proteus Syndrome |
|
Neoplasm of the thymus, Abnormal finger morphology, Abnormal form of the vertebral bodies, Clinod... |
ORPHA:744 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Hyperactivity, Ventricular septal defect, Aggressive behavior,... |
ORPHA:3306 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Pectus excavatum, Kyphosis, Asymmetry of the thorax, Scoliosis, Genu varum |
ORPHA:1969 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... |
ORPHA:289548 |
Achondrogenesis |
|
Micromelia, Micrognathia, Short neck, Short thorax, Narrow chest |
ORPHA:932 |
Arthrogryposis, Distal, Type 2A |
|
Knee flexion contracture, Hernia, Wrist flexion contracture, Ulnar deviation of the hand or of fi... |
OMIM:193700 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Prominent metopic ridge, Hyperthyroidism, Decreased response to grow... |
ORPHA:488632 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... |
ORPHA:168558 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Micrognathia, Proximal femoral metaphyseal irregularity, Early ossification of capital femoral ep... |
ORPHA:397715 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Short palm, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Ankle flexion contracture, Splen... |
OMIM:608799 |
Mucopolysaccharidosis Type 2 |
|
Abnormal tricuspid valve morphology, Conductive hearing impairment, Abnormal repetitive mannerism... |
ORPHA:580 |
Miller-Dieker Lissencephaly Syndrome |
|
Sacral dimple, Single transverse palmar crease, Micrognathia, Pachygyria, Cryptorchidism, Gray ma... |
OMIM:247200 |
Trichorhinophalangeal Syndrome, Type I |
|
Pes planus, Short metacarpal, Scapular winging, Ivory epiphyses of the distal phalanges of the ha... |
OMIM:190350 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Sensorineural hearing impairment,... |
ORPHA:1215 |
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects |
|
Restlessness, Small for gestational age, Aggressive behavior, Optic atrophy, Exudative vitreoreti... |
OMIM:615075 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Absent brainstem ... |
ORPHA:101085 |
Cln3 Disease |
|
Cataract, Ataxia, Bull's eye maculopathy, Aggressive behavior, Vacuolated lymphocytes, Optic atro... |
ORPHA:228346 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ... |
ORPHA:1067 |
Pituicytoma |
|
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... |
ORPHA:251623 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Rocker bottom foot, Equinovarus deformity, Micrognathia, Calcaneovalg... |
ORPHA:3078 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Single transverse palmar crease, Short neck, 2-3 toe syndactyly, Cutaneous syn... |
OMIM:236500 |
Cach Syndrome |
|
Premature ovarian insufficiency, Cataract, Flexion contracture, Optic atrophy, Truncal ataxia, Se... |
ORPHA:135 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Cri-Du-Chat Syndrome |
|
Single transverse palmar crease, Short metatarsal, High axial triradius, Abnormal repetitive mann... |
OMIM:123450 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia of the odontoi... |
OMIM:250250 |
Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Deviation of finger, Abno... |
OMIM:269500 |
Geroderma Osteodysplasticum |
|
Beaking of vertebral bodies, Hyperextensibility of the finger joints, Kyphoscoliosis, Tibial bowi... |
OMIM:231070 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Astigmatism, Optic disc pallor, Broad finger |
OMIM:617523 |
Bardet-Biedl Syndrome 12 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:615989 |
Pfeiffer Syndrome |
|
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... |
OMIM:101600 |
Cockayne Syndrome B |
|
Abnormal peripheral myelination, Ivory epiphyses of the phalanges of the hand, Microcornea, Hypop... |
OMIM:133540 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Hepatomegaly, Cataract, Ventricular septal defect, Cryptorchidism |
OMIM:613730 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Cataract, Retinal dystrophy, Proximal placement of thumb, Sclerocornea, Crypto... |
ORPHA:139471 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger, Sensorineural hearing imp... |
ORPHA:1466 |
Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Syndactyly |
OMIM:619736 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Premature ovarian insufficiency, Retinal dystrophy, Cataract... |
ORPHA:3156 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Precocious puberty, Patent ductus arteriosus, Coxa vara, Narrow pelvis bone, Abnormal... |
ORPHA:2637 |
Tarp Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Pe... |
ORPHA:2886 |
Gracile Bone Dysplasia |
|
Slender long bone, Thin ribs, Flared metaphysis, Brachydactyly |
OMIM:602361 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Delayed epiphyseal ossific... |
ORPHA:785 |
Pseudoaminopterin Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Synostosis of carpal bones... |
ORPHA:221120 |
Pitt-Hopkins Syndrome |
|
Pes planus, Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse p... |
OMIM:610954 |
Classic Galactosemia |
|
Male infertility, Hepatomegaly, Elevated hepatic transaminase, Premature ovarian insufficiency, C... |
ORPHA:79239 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Iris hypopigmentation, Facial palsy, Cachexia, Aggressive behavior, Ataxia, Pr... |
ORPHA:97229 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Pes ... |
OMIM:607323 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Short distal phalanx of finger |
ORPHA:2776 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, C... |
ORPHA:1507 |
Mucopolysaccharidosis Type 1 |
|
Inguinal hernia, Abnormal heart valve morphology, Abnormality of the tonsils, Corneal opacity, Sp... |
ORPHA:579 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Cryptorchidism, Postaxial polydactyly |
OMIM:615824 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Arachnodactyly, Short neck, Micrognathia, Calcaneovalgus deformity, Adducted thumb, Talipes equin... |
ORPHA:562528 |
Mend Syndrome |
|
Hyperactivity, Cataract, Overlapping toe, Broad hallux, Abnormal auditory evoked potentials, Aggr... |
ORPHA:401973 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Missing ribs, Micrognathia, Cryptorchidism, Abnormal rib morpholog... |
ORPHA:3301 |
Hurler Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Camptodactyly of finger, Abnormality of the tonsil... |
ORPHA:93473 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Enlarged polycystic ovaries, Abnormal circulating leptin concentration, Insulin... |
ORPHA:2298 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Weight loss |
ORPHA:79238 |
Shwachman-Diamond Syndrome 1 |
|
Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal sclerosis, Metaphyseal chondrodysplasia... |
OMIM:260400 |
Schwartz-Jampel Syndrome |
|
Micromelia, Short neck, Micrognathia, Coxa vara, Pectus carinatum, Wrist flexion contracture, Abn... |
ORPHA:800 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Single transverse palmar crease, Adrenal hypoplasia, Loss of ambulation, Ulnar deviation of the h... |
OMIM:214100 |
46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Pes planus, Arachnodactyly, Genu recurvatum, Craniosynostosis, Micrognathia, Metatarsus adductus,... |
OMIM:182212 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Pancytopenia, Cataract, Ataxia, Single transverse palmar crease, Uplifted earlobe, ... |
ORPHA:251009 |
Silver-Russell Syndrome 1 |
|
Syndactyly, Micrognathia, Abnormal foot morphology, Short distal phalanx of the 5th finger, Clino... |
OMIM:180860 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Micrognathia, Abnormal rib morphology, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, ... |
OMIM:601076 |
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 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Clinodactyly of the 5th finge... |
OMIM:300963 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Missing ribs, Hemivertebrae, Micrognathia |
OMIM:220210 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti... |
ORPHA:79345 |
Walker-Warburg Syndrome |
|
Retinal detachment, Hypoplasia of penis, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Po... |
ORPHA:899 |
Roifman-Chitayat Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short metatarsal, Short neck |
OMIM:613328 |
Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Micrognathia, Short th... |
ORPHA:50945 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Sacral dimple, Short neck, Micrognathia, Cryptorchidism, Kyphosis, Patent ductus arte... |
OMIM:616894 |
Cohen Syndrome |
|
Pes planus, Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Single transverse palmar ... |
OMIM:216550 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Ataxia, Facial palsy, Abnormal retinal morphology, Hand muscle weakness, Optic ... |
ORPHA:254886 |
Acrofrontofacionasal Dysostosis |
|
Bifid scrotum, Brachydactyly, Hypospadias, Camptodactyly of finger, Micromelia, Abnormal epiphysi... |
ORPHA:1784 |
Farber Disease |
|
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Corneal opacity, ... |
ORPHA:333 |
Warburg Micro Syndrome 1 |
|
Failure to thrive, Overlapping toe, External genital hypoplasia, Cryptorchidism, Optic atrophy, D... |
OMIM:600118 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Hyperactivity, Ataxia, Aggressive behavior, EEG with generalized polyspikes, Precoc... |
ORPHA:163681 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Kyphosis, Abnormality of the elbow, Hip dislocation, Vertebral segmentation de... |
ORPHA:1005 |
Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus ... |
OMIM:311900 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Hepatomegaly, External genital hypoplasia, Inappropriate ant... |
ORPHA:79330 |
Orofaciodigital Syndrome V |
|
Unilateral cryptorchidism, Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Postaxi... |
OMIM:174300 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... |
OMIM:308050 |
Landau-Kleffner Syndrome |
|
Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive... |
ORPHA:98818 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Short toe, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Scoliosis, Clinodac... |
OMIM:619269 |
Wagro Syndrome |
|
Decreased testicular size, Cataract, Corneal opacity, Aggressive behavior, Obesity, Agitation, Lo... |
OMIM:612469 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Short neck, Missing ribs, Micrognathia, Abnormal rib morphology, Abnorma... |
ORPHA:1834 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Metaphyseal widening, Metatarsal osteolysis, Camptodactyl... |
OMIM:259600 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, En... |
ORPHA:289157 |
Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos... |
ORPHA:98890 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal pelvis bone morphology, Camptodactyly of finger, Abnormality of the hand, Cryptorchidism... |
ORPHA:2273 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Single transverse palmar crease, Vertebral clefting, Hemivertebrae, 2-3 toe syndactyl... |
OMIM:614701 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Anorexia, Splenomegaly, Thrombocytopenia, Optic atrophy, Choreoathetosis, Cardiomyo... |
ORPHA:79312 |
Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Ventricular septal defect, Hypospadias, Absent thumb, Short thumb, Cryptorchidism,... |
OMIM:617516 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Micromelia, Genu valgum |
ORPHA:1035 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormal intervertebral disk morphology, Micromelia, Short neck, Micrognathia, Abnormal finger mo... |
ORPHA:2636 |
Hypomelia With Mullerian Duct Anomalies |
|
Postaxial hand polydactyly, Split hand |
OMIM:146160 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
2-3 finger syndactyly |
ORPHA:1338 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... |
OMIM:614897 |
Occipital Horn Syndrome |
|
Coxa vara, Humerus varus, Pectus carinatum, Narrow chest, Short palm, Large iliac wing, Abnormali... |
ORPHA:198 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Cataract, Camptodactyly of finger, Flexion contracture, Dilated cardiomyopathy, Optic atrophy, EE... |
ORPHA:272 |
Peroxisome Biogenesis Disorder 8B |
|
Cataract, Retinal dystrophy, Ataxia, Unsteady gait, Optic atrophy, Dysmetria, Gait ataxia, Tip-to... |
OMIM:614877 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Peripheral axonal neuropathy, Premature ovarian insufficiency, Ataxia, Optic atrophy, Depression,... |
OMIM:619425 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Inability to walk, Sensorineural hearing impairment, Optic a... |
ORPHA:52368 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Short neck, Small hand, Abnormal rib morphology, Short foot, Micropenis, Spina bifida occulta, Th... |
ORPHA:488434 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Inguinal hernia, Cataract, Arachnodactyly, Corneal opacity, Ataxia, Abnormal thumb morphology, Cr... |
ORPHA:2719 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Failure to thrive, Metaphyseal ... |
OMIM:269920 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypoplasia of penis, Small scrotum, Multiple pterygia, Micrognathia, Symphalangism affecting the ... |
ORPHA:2990 |
Primary Pulmonary Hypoplasia |
|
Patellar hypoplasia, Micrognathia |
ORPHA:2257 |
Prune1-Related Neurological Syndrome |
|
Cataract, Inability to walk, Optic atrophy, EEG abnormality, Bilateral talipes equinovarus, Low-s... |
ORPHA:544469 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Sandal gap, Abnormal pinna morphology, Hypospadias, Aggressive behavior, Cryptorch... |
OMIM:300354 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
Blepharocheilodontic Syndrome 1 |
|
Clinodactyly, Cutaneous syndactyly |
OMIM:119580 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Bifid femu... |
ORPHA:2769 |
Scheie Syndrome |
|
Aortic valve stenosis, Corneal opacity, Retinal degeneration, Genu valgum |
OMIM:607016 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Neur... |
ORPHA:206443 |
Fucosidosis |
|
Hepatomegaly, Lipoatrophy, Corneal opacity, Cardiomegaly, Abnormality of the gallbladder, Failure... |
ORPHA:349 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... |
OMIM:616030 |
Neonatal Adrenoleukodystrophy |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cataract, Sensorineural h... |
ORPHA:44 |
Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Decreased response to growth hormone stimulation test, Bowing of the legs,... |
ORPHA:1855 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Faciocardiomelic Syndrome |
|
Micrognathia, Cuboid-shaped vertebral bodies, Slender long bone, Polydactyly, Narrow chest, Hypop... |
OMIM:612731 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of t... |
ORPHA:246 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Hypopituitarism, Anterior pituitary hypoplasia, Postaxial polydactyl... |
OMIM:615849 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Abnormal hand morphology, Short phalanx of finger, Broad finger, Small hand |
OMIM:300845 |
Striatonigral Degeneration, Infantile |
|
Choreoathetosis, Failure to thrive, Optic atrophy, Dysphagia |
OMIM:271930 |
Martsolf Syndrome 2 |
|
Decreased body weight, Cataract, Overlapping toe, Camptodactyly of finger, Hypogonadotropic hypog... |
OMIM:619420 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:94066 |
Silver-Russell Syndrome 3 |
|
Clinodactyly of the 5th finger, Syndactyly, Small hand |
OMIM:616489 |
Mend Syndrome |
|
Microretrognathia, Sacral dimple, Broad hallux, Overlapping toe, Micrognathia, Long fingers, Cryp... |
OMIM:300960 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Hypoplas... |
ORPHA:2092 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Anterior pituitary hypoplasia, Protruding ear, Clinodactyly of the 5... |
ORPHA:464306 |
Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Talipes, Postaxial polydactyly, Microgna... |
OMIM:619879 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Epiphyseal stippling, Abnormality of the vertebral column, Short distal phalanx of finger |
OMIM:302950 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Unsteady gait, Optic atrophy, Limb ataxia, Depression, Gait ataxia, Cardiom... |
OMIM:619259 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Sensorineural hearing impairm... |
OMIM:310600 |
Hsd10 Mitochondrial Disease |
|
Restlessness, Aggressive behavior, Sensorineural hearing impairment, Optic atrophy, Abnormal mito... |
OMIM:300438 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Single transverse palmar crease, Metaphyseal widening, Flexion contr... |
ORPHA:536471 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Barrel-shaped chest, Hip contracture, Vertebral fusion, Tarsal synostosis, Short neck, Elbow flex... |
OMIM:178110 |
Septopreoptic Holoprosencephaly |
|
Precocious puberty, Perisylvian polymicrogyria, Abnormal rib morphology, Anterior hypopituitarism... |
ORPHA:280195 |
Nance-Horan Syndrome |
|
Short phalanx of finger, Broad finger |
OMIM:302350 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Protruding ear, Micropenis, Abnormal repetitive mannerisms, Hypospadias, Tapered finger, Cryptorc... |
ORPHA:464311 |
Cystinosis |
|
Corneal opacity, Portal hypertension, Nephrogenic diabetes insipidus, Hypothyroidism, Type I diab... |
ORPHA:213 |
Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification... |
OMIM:300009 |
Pyknoachondrogenesis |
|
Micromelia, Short iliac bones, Horizontal ribs, Short thorax, Abnormal iliac wing morphology, Poo... |
ORPHA:3003 |
Distal Duplication 17Q |
|
Hallux valgus, Rhizomelia, Overlapping toe, Arachnodactyly, Micrognathia, Cryptorchidism, Genu va... |
ORPHA:3379 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Atax... |
OMIM:249270 |
Frank-Ter Haar Syndrome |
|
Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Micrognathia,... |
OMIM:249420 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
|
Optic disc pallor, Inability to walk, Optic atrophy, Hypsarrhythmia, Dysphagia |
OMIM:617086 |
Acrocraniofacial Dysostosis |
|
Tapered finger, Coxa valga, Pectus excavatum, Micrognathia, Abnormal form of the vertebral bodies... |
ORPHA:949 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
Short Syndrome |
|
Inguinal hernia, Posterior embryotoxon, Lipodystrophy, Abnormal dental enamel morphology, Corneal... |
ORPHA:3163 |
Smith-Magenis Syndrome |
|
Retinal detachment, Hyperactivity, Hearing impairment, Abnormality of the thyroid gland, Self hug... |
OMIM:182290 |
Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Micromelia, Short neck, Micrognathia, Epispadias, Hemivertebrae, Coxa vara, ... |
ORPHA:3107 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Brachydactyly, Pectus excavatum, Small hand, Short palm, Cl... |
ORPHA:1786 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent... |
OMIM:619557 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Kyphoscoliosis, Short neck, Micrognathia, Cryptorchidism, Patent ductus arteriosus, ... |
OMIM:102500 |
Van Maldergem Syndrome 2 |
|
Bifid scrotum, Short fourth metatarsal, Micrognathia, Cutaneous syndactyly of toes, Cutaneous fin... |
OMIM:615546 |
Choanal Atresia |
|
Polydactyly |
ORPHA:137914 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 2nd finger, Sandal gap, Broad hallux, 2-3 toe syndactyly, Cutaneous syndactyly, Short 5th f... |
OMIM:600987 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology, Narrow chest |
ORPHA:1861 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Leukodystrophy, Hypomyelinating, 21 |
|
Ataxia, Hypogonadotropic hypogonadism, Cryptorchidism, Optic atrophy, Athetosis, Failure to thrive |
OMIM:619310 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Pectus excavatum, Hemivertebrae, Scoliosis, Cubitus valgus |
OMIM:104350 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Single transverse palmar crease, Atrial septal defect, Intrahepatic biliary dysgenesis, Hepatomeg... |
OMIM:614866 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Micrognathia, Progressive clavicular acroosteolysis, Osteolytic defects of the distal phalanges o... |
OMIM:608612 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Thin ribs, Short finger |
OMIM:312150 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Syndactyly, Hypospadias, Anterior pituitary hypoplasia, ... |
OMIM:151050 |
Marinesco-Sjögren Syndrome |
|
Short palm, Cataract, Ataxia, External genital hypoplasia, Coxa valga, Avascular necrosis of the ... |
ORPHA:559 |
Zechi-Ceide Syndrome |
|
Sandal gap, Long foot, Short metatarsal, Short distal phalanx of finger |
ORPHA:217017 |
Melnick-Needles Syndrome |
|
Short humerus, Pes planus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphos... |
OMIM:309350 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Sensorineural hearing impairme... |
OMIM:618652 |
Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Single transverse palmar crease, Thoracolumbar scoliosis, Micrognathia, 2-3 fin... |
ORPHA:2437 |
Oliver Syndrome |
|
Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Elbow flexion contracture, Knee f... |
ORPHA:2920 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... |
OMIM:272460 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotransferase concentration, At... |
OMIM:271245 |
Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Corneal opacity, Ataxia, EEG abnormality, Palmoplantar kerat... |
ORPHA:578 |
Coxoauricular Syndrome |
|
Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Micromelia |
ORPHA:1508 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Rhizomelia, Ulnar deviation of the wrist, Pectus ex... |
OMIM:618162 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... |
OMIM:273250 |
Constricting Bands, Congenital |
|
Syndactyly, Abnormal rib cage morphology, Hand polydactyly, Talipes equinovarus, Scoliosis |
OMIM:217100 |
Lowry-Maclean Syndrome |
|
Inguinal hernia, Hypospadias, Single transverse palmar crease, Congenital diaphragmatic hernia, C... |
ORPHA:2409 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking... |
ORPHA:320401 |
4H Leukodystrophy |
|
Cataract, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, A... |
ORPHA:289494 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, 2-3 toe syndacty... |
OMIM:614099 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Pes planus, Sacral dimple, Macroorchidism, Tapered finger, Precocious puberty, Long fingers, Hype... |
OMIM:619950 |
Ring Chromosome 12 Syndrome |
|
Syndactyly, Lumbar hyperlordosis, Pectus excavatum, Abnormal 5th finger morphology, Symphalangism... |
ORPHA:1439 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ... |
ORPHA:93259 |
Dpm1-Cdg |
|
Sandal gap, External genital hypoplasia, Micrognathia, Knee flexion contracture, Camptodactyly, L... |
ORPHA:79322 |
Refsum Disease, Classic |
|
Short fourth metatarsal, Cataract, Ataxia, Cardiomegaly, Sensorineural hearing impairment, Cardio... |
OMIM:266500 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Sandal gap, Supernumerary nipple, Pectus excavatum, Cryptorchidism, Abnormal... |
ORPHA:1812 |
Camurati-Engelmann Disease |
|
Anorexia, Abnormal tibia morphology, Abnormal femur morphology, Cortical thickening of long bone ... |
ORPHA:1328 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Talipes, Micrognathia, Absent thumb, Aplasia/Hypoplasia of the... |
ORPHA:1234 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Aplastic clavicle, Micromelia, Short neck, Preaxial polydactyly, Narrow ch... |
OMIM:616546 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Cataract, Micromelia, Hepatosplenomegaly |
OMIM:273680 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short neck, Br... |
OMIM:614800 |
Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Optic atrophy, Dysphagia, Choreoathetosis, Bilateral sensorineural hearing impairment, Br... |
OMIM:619422 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Inguinal hernia, Impulsivity, Aggressive behavior, Myopic astigmatism, Development... |
OMIM:620141 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ... |
OMIM:620135 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Papilledema, Hepatosplenomeg... |
ORPHA:2072 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of penis, Sandal gap, Ataxia, Cryptorchidism, Polyphagia, Self-injuriou... |
ORPHA:228402 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Sacral dimple, Unilateral breast hypoplasia, Abnormal cortical gyration, Postaxial polydactyly, T... |
OMIM:300968 |
Short Stature-Micrognathia Syndrome |
|
Small scrotum, Rhizomelia, Ventricular septal defect, Penoscrotal hypospadias, Bowing of the legs... |
OMIM:617164 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Cataract, A... |
OMIM:609033 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Short neck, Micrognathi... |
OMIM:122470 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Hypogonadotropic hypogonadism,... |
ORPHA:570 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... |
ORPHA:85327 |
Au-Kline Syndrome |
|
Sacral dimple, Prominent metopic ridge, Overlapping toe, Thoracolumbar scoliosis, Postaxial polyd... |
OMIM:616580 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hepatomegaly, Sensorineural hearing impairment, Optic atrophy, EEG abnormality, Hand polydactyly,... |
ORPHA:2971 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte... |
OMIM:201750 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Ankle flexion contracture, Tapered finger, Kn... |
ORPHA:435938 |
Rere-Related Neurodevelopmental Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Hypospadias, Peters anomaly, Crypto... |
ORPHA:494344 |
Monosomy 9Q22.3 |
|
Ovarian fibroma, Short neck, Palmar pits, Kyphosis, Pectus excavatum, Plantar pits, Abnormal rib ... |
ORPHA:77301 |
Distal Deletion 6P |
|
Atrial septal defect, Posterior embryotoxon, Corneal opacity, Short foot, Self-injurious behavior... |
ORPHA:96125 |
Hydrolethalus |
|
Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Abnormal fallopian tube mor... |
ORPHA:2189 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
De Barsy Syndrome |
|
Inguinal hernia, Cataract, Ventricular septal defect, Lipodystrophy, Corneal opacity, Congenital ... |
ORPHA:2962 |
Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn... |
OMIM:270200 |
Infantile Systemic Hyalinosis |
|
Camptodactyly of finger, Micromelia, Short neck, Polycystic ovaries, Abnormality of the adrenal g... |
ORPHA:2176 |
Lymphatic Malformation 10 |
|
Hydrocele testis |
OMIM:619369 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Retinal detachment, Cataract, Corneal opacity |
OMIM:613153 |
Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
Spastic Ataxia 4, Autosomal Recessive |
|
Spastic ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Upper limb hypertonia, Emotional lability |
OMIM:613672 |
Craniofrontonasal Syndrome |
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Toe syndactyly, Broad hallux, Hypospadias, Down-sloping shoulders, Short neck, Pectus excavatum, ... |
OMIM:304110 |
Multiple Pterygium Syndrome, Lethal Type |
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Vertebral fusion, Abnormal cervical curvature, Micrognathia, Thin ribs, Short finger |
OMIM:253290 |
Trisomy 10P |
|
Thumb contracture, Absent gallbladder, Posteriorly rotated ears, Small for gestational age, Abnor... |
ORPHA:171929 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
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Finger syndactyly, Toe syndactyly, Arachnodactyly, Short palm |
ORPHA:73246 |
Orofaciodigital Syndrome Type 6 |
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Syndactyly, Mesoaxial polydactyly, Micrognathia, Bilateral cryptorchidism, Central Y-shaped metac... |
ORPHA:2754 |
Meckel Syndrome |
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Sclerocornea, Asplenia, Microcornea, Accessory spleen, Low-set, posteriorly rotated ears, Abnorma... |
ORPHA:564 |
Hsd10 Disease, Infantile Type |
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Restlessness, Cardiomegaly, Optic atrophy, Choreoathetosis, Dysphagia, Loss of ambulation, Hypert... |
ORPHA:391428 |
Phenylketonuria |
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Hyperactivity, Cataract, Aggressive behavior, Blue irides, Depression, Irritability, Compulsive b... |
OMIM:261600 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
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Cataract, Inability to walk, Optic atrophy, Protruding ear, Talipes equinovarus, Joint contractur... |
OMIM:617481 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
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Inability to walk, Optic atrophy, Irritability, Athetosis, Gait disturbance, Loss of ambulation, ... |
OMIM:618241 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
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Syndactyly, Clinodactyly |
OMIM:618087 |
Developmental And Epileptic Encephalopathy 47 |
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Optic disc pallor, Ataxia, Inability to walk, Multifocal epileptiform discharges, Limb ataxia, Hy... |
OMIM:617166 |
Frontometaphyseal Dysplasia 2 |
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Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Pectu... |
OMIM:617137 |
Filippi Syndrome |
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Enlarged epiphyses, Finger syndactyly, Clinodactyly of the 5th finger, Clinodactyly of the 5th to... |
ORPHA:3255 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
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Finger syndactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly |
ORPHA:60040 |
Meckel Syndrome, Type 5 |
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Postaxial foot polydactyly, Bowing of the long bones, Postaxial hand polydactyly |
OMIM:611561 |
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome |
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Optic disc pallor, Uplifted earlobe, Tapered finger, Optic atrophy, Protruding ear, Prominent ant... |
OMIM:615722 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
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Decreased testicular size, Overlapping toe, Broad hallux, Underdeveloped superior crus of antihel... |
ORPHA:293967 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
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Decreased testicular size, Restlessness, Hyperactivity, Failure to thrive, Aggressive behavior, C... |
OMIM:300534 |
Microphthalmia, Isolated 5 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:611040 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
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Broad-based gait, Overlapping toe, Single transverse palmar crease, Tapered finger, Optic atrophy... |
OMIM:617807 |
Mucopolysaccharidosis, Type Vii |
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Hepatomegaly, Abnormal heart valve morphology, Corneal opacity, Metatarsus adductus, Splenomegaly... |
OMIM:253220 |
Ellis Van Creveld Syndrome |
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Hypospadias, Micromelia, Epispadias, Cryptorchidism, Capitate-hamate fusion, Short thorax, Genu v... |
ORPHA:289 |
Diencephalic Syndrome |
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Cachexia, Long penis, Optic atrophy, Large hands, Decreased body weight, Abnormality of the hypot... |
ORPHA:1672 |
Developmental And Epileptic Encephalopathy 89 |
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Microretrognathia, Hypoplastic labia minora, Hypoplastic labia majora, Talipes equinovarus, Scoli... |
OMIM:619124 |
Micromelic Bone Dysplasia With Cloverleaf Skull |
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Micromelia |
OMIM:156830 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Short neck, Micrognathia, Short metatarsal, Narrow chest, Clinodactyly of the 5th finger, Short p... |
OMIM:266920 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
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Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... |
OMIM:613686 |
Microphthalmia, Lenz Type |
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Finger syndactyly, Abnormal clavicle morphology, Camptodactyly of finger, Hyperlordosis, Kyphosis... |
ORPHA:568 |
19P13.12 Microdeletion Syndrome |
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Short palm, Atrial septal defect, Conductive hearing impairment, Clinodactyly of the 5th finger, ... |
ORPHA:254346 |
10Q22.3Q23.3 Microduplication Syndrome |
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Microretrognathia, Abnormal clavicle morphology, Hypospadias, Abnormal rib morphology, Ambiguous ... |
ORPHA:276422 |
Polyendocrine-Polyneuropathy Syndrome |
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Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... |
ORPHA:453533 |
Mirage Syndrome |
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Decreased body weight, Hypospadias, Rocker bottom foot, Hypergonadotropic hypogonadism, Adrenal h... |
OMIM:617053 |
Acrofacial Dysostosis 1, Nager Type |
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Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph... |
OMIM:154400 |
8Q21.11 Microdeletion Syndrome |
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Finger syndactyly, Hypoplasia of penis, Cataract, Iris hypopigmentation, Camptodactyly of finger,... |
ORPHA:284160 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
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Hyperactivity, Sandal gap, Aggressive behavior, Unsteady gait, Blue irides, Recurrent hand flappi... |
OMIM:615516 |
Hypertrichosis Cubiti |
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Abnormality of the elbow, Rhizomelia, Micromelia |
ORPHA:2220 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
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Optic atrophy, Adrenal medullary hypoplasia, Depression, Genu valgum, Astigmatism |
OMIM:248000 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
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Diabetes mellitus, Cryptorchidism, Clinodactyly, Hypothyroidism, Simplified gyral pattern, Limb u... |
OMIM:616541 |
Hurler-Scheie Syndrome |
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Hepatomegaly, Inguinal hernia, Corneal opacity, Camptodactyly of finger, Thenar muscle atrophy, C... |
OMIM:607015 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Rieger anomaly, Abnormal auditory evoked potentials, Coxa valga, Sensorineural hearing impairment... |
OMIM:109120 |
Mosaic Trisomy 1 |
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Single transverse palmar crease, Congenital diaphragmatic hernia, Finger clinodactyly, Micropenis... |
ORPHA:1692 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
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Hypoplasia of penis, Cataract, Hypospadias, Aplasia/Hypoplasia of the lens, Cryptorchidism, Genu ... |
ORPHA:1381 |
Histidinuria Due To A Renal Tubular Defect |
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Short middle phalanx of finger, Rounded middle phalanx of finger |
OMIM:235830 |
Brown-Vialetto-Van Laere Syndrome 2 |
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Ataxia, Facial palsy, Aggressive behavior, Sensorineural hearing impairment, Split hand, Optic at... |
OMIM:614707 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
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Long toe, Hyperactivity, Hypospadias, Optic nerve hypoplasia, Hyperopic astigmatism, Long fingers... |
ORPHA:363686 |
Spinocerebellar Ataxia With Epilepsy |
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Acute hepatic failure, Optic atrophy, Dysmetria, Depression, Gait ataxia, Progressive cerebellar ... |
ORPHA:254881 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Small hypothenar eminence, Arachnodactyly, Thenar muscle atrophy, Pectus excavatum, Thin metatars... |
ORPHA:2463 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys... |
OMIM:617088 |
Morquio Syndrome C |
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Corneal opacity |
OMIM:252300 |
Bardet-Biedl Syndrome 20 |
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Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndactyly, ... |
OMIM:619471 |
Autosomal Dominant Optic Atrophy, Classic Form |
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Scapular winging, Macrocytic anemia, Cataract, Diabetes mellitus, Morning glory anomaly, Ataxia, ... |
ORPHA:98673 |
Cree Mental Retardation Syndrome |
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Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Micrognathia, Pectus excavatum, Cutaneous fin... |
OMIM:606851 |
Bartsocas-Papas Syndrome 2 |
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2-5 finger cutaneous syndactyly, Corneal opacity, Small hand, Antecubital pterygium, Popliteal pt... |
OMIM:619339 |
Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy |
ORPHA:79292 |
Ichthyosis, X-Linked |
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Testicular neoplasm, Cryptorchidism, Palmar hyperlinearity, Palmoplantar keratoderma, Opacificati... |
OMIM:308100 |
Behr Syndrome |
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Ataxia, Achilles tendon contracture, Unsteady gait, Optic atrophy, Truncal ataxia, Hypoplastic op... |
OMIM:210000 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Cone-shaped epiphyses of the 4th toe, Hyperactivity, Hyperopic astigmatism, Obesit... |
ORPHA:397973 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Oculofaciocardiodental Syndrome |
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Retinal detachment, Cataract, Ectopia lentis, Short thumb, Sensorineural hearing impairment, Broa... |
ORPHA:2712 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Cachexia, Cardiomegaly, Fatigable weakness, ... |
ORPHA:42 |
Sarcosinemia |
|
Ataxia, Optic atrophy, Infantile sensorineural hearing impairment, Pulmonic stenosis, Emotional l... |
ORPHA:3129 |
Congenital Varicella Syndrome |
|
Micromelia |
ORPHA:291 |
Norrie Disease |
|
Sclerocornea, Abnormal pupil morphology, Protruding ear, Hypoplasia of the iris, Uterine rupture,... |
ORPHA:649 |
Joubert Syndrome 39 |
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Joint contracture of the 5th finger, Postaxial polydactyly |
OMIM:619562 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Autoamputation of digits, Hyperactivity, Keratitis, Corneal scarring, Emotional lability, Corneal... |
OMIM:256800 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
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Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedg... |
OMIM:253200 |
8P11.2 Deletion Syndrome |
|
Hypoplasia of penis, Sacral dimple, Hypogonadotropic hypogonadism, Micrognathia, Cryptorchidism, ... |
ORPHA:251066 |
Osteogenesis Imperfecta, Type Vii |
|
Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Rhizomelia, Protrusio acetabul... |
OMIM:610682 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
Ventriculomegaly With Cystic Kidney Disease |
|
Postaxial polydactyly |
OMIM:219730 |
Scheie Syndrome |
|
Hepatomegaly, Corneal opacity, Splenomegaly, Sensorineural hearing impairment, Abnormal nerve con... |
ORPHA:93474 |
Kid Syndrome |
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Coxa valga, Equinus calcaneus, Patellar hypoplasia, Knee flexion contracture, Arthritis, Palmopla... |
ORPHA:477 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... |
OMIM:118100 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Abnormal cortical gyr... |
OMIM:617527 |
Cloacal Exstrophy |
|
Hypoplasia of penis, Abnormal tibia morphology, Hip dislocation, Absent foot, Abnormal fibula mor... |
ORPHA:93929 |
Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Micrognath... |
ORPHA:783 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Micrognathia, Adactyly, Split hand, Aplasia/Hypoplasia of finge... |
ORPHA:989 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Elevated hepatic transaminase, Cataract, Single transverse palmar crease, Aggressive behavior, Cr... |
OMIM:608093 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Pectus excavatum, Broa... |
OMIM:227330 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve... |
ORPHA:87 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Pili Torti-Onychodysplasia Syndrome |
|
Palmoplantar keratoderma, Cutaneous syndactyly |
ORPHA:2890 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... |
ORPHA:90790 |
Short Stature With Microcephaly And Distinctive Facies |
|
Microretrognathia, Syndactyly, Short digit, Proximal placement of thumb, Talipes equinovarus, Sho... |
OMIM:615789 |
Srd5A3-Cdg |
|
Elevated hepatic transaminase, Cataract, Optic disc hypoplasia, Decreased response to growth horm... |
ORPHA:324737 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Reduced intraabdominal adipose ... |
ORPHA:363400 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Ataxia, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Inguinal hernia, Flat cornea, Sclerocornea, Keratoglobus, Gait disturbance, Decrease... |
OMIM:614170 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Broad-based gait, Ataxia, Obesity, EEG abnormality, Inappropriate laughter, Polyph... |
ORPHA:411515 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Short neck, Micrognathia, Scoliosis |
OMIM:616038 |
Incontinentia Pigmenti |
|
Finger syndactyly, Retinal detachment, Cataract, Abnormal chorioretinal morphology, Camptodactyly... |
ORPHA:464 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Broad-based gait, Cataract, Failure to thrive in infancy, Microcytic anemia, Dilate... |
OMIM:618805 |
Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly |
ORPHA:1252 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Micromelia, Micrognathia, Cryptorchidism, Abnormal p... |
ORPHA:93271 |
Tetrasomy 9P |
|
Joint dislocation, Short neck, Micrognathia, Clinodactyly of the 5th finger, Micropenis, Pachygyr... |
ORPHA:3310 |
Myopathy With Extrapyramidal Signs |
|
Elevated hepatic transaminase, Hepatomegaly, Peripheral axonal neuropathy, Hyperactivity, Ventric... |
OMIM:615673 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Sclerocornea, Hernia, Atrial septal def... |
ORPHA:280 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Inability to walk, EEG... |
ORPHA:168491 |
Triploidy |
|
Omphalocele, Finger syndactyly, Hepatomegaly, Low-set, posteriorly rotated ears, Hypoplasia of pe... |
ORPHA:3376 |
Tarsal Coalition |
|
Tarsal synostosis |
OMIM:186850 |
Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Short femur, Wide cranial sutures, Metaphyseal spurs, Patent ductus arterios... |
OMIM:618188 |
Alg8-Cdg |
|
Elevated hepatic transaminase, Cataract, Abnormality of subcutaneous fat tissue, Small for gestat... |
ORPHA:79325 |
Mucopolysaccharidosis Type 7 |
|
Inguinal hernia, Corneal opacity, Metatarsus adductus, Splenomegaly, Hepatitis, Epiphyseal stippl... |
ORPHA:584 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
X-Linked Intellectual Disability, Cabezas Type |
|
Inguinal hernia, Toe syndactyly, Sandal gap, Camptodactyly of finger, Hyperactivity, Aggressive b... |
ORPHA:85293 |
Glaucoma 3, Primary Congenital, E |
|
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio |
OMIM:617272 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... |
ORPHA:699 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Increased density of long bones, Single transverse palmar crease, Short neck, Tibi... |
OMIM:269150 |
Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Cataract, Ataxia, Sensorineural hearing impairment, Dilated cardiomyopathy, Optic a... |
ORPHA:254913 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Proximal placement of thumb, Micrognathia, Short neck, Narrow chest, Short palm, Clin... |
OMIM:217980 |
Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Hyperextensibility of the knee, Micrognathia, Elevated circulating thyroid-stimula... |
OMIM:601812 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Cataract, Diabetes mellitus, Cardiomyopathy, Impotence, Cirrhosis, Hepatic steatosi... |
OMIM:606069 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Retinal detachment, Cataract, Posteriorly rotated ears, Ataxia, Coxa valga, Aggressive behavior, ... |
OMIM:619833 |
Warburg Micro Syndrome 3 |
|
Small scrotum, Cataract, Inability to walk, Hypoplastic labia minora, Flexion contracture, Optic ... |
OMIM:614222 |
Bardet-Biedl Syndrome |
|
Finger syndactyly, Postaxial hand polydactyly, Short neck |
ORPHA:110 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Pterygium, Rocker bottom foot, Micromelia, Bifid uterus, Short... |
OMIM:256520 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Short neck |
ORPHA:178303 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short neck, Micrognathia, Clitoral hypoplasia, Short palm, Micropenis, Duplication of the distal ... |
OMIM:180700 |
Orofaciodigital Syndrome Type 3 |
|
Pectus excavatum, Postaxial hand polydactyly, Postaxial foot polydactyly, Thoracic kyphosis, Shor... |
ORPHA:2752 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Broad palm, Spinal canal stenosis, Scoliosis, Broad phalanges of the hand, ... |
OMIM:277600 |
Congenital Disorder Of Glycosylation, Type Id |
|
Failure to thrive, Long fingers, Macrotia, Flexion contracture, Optic atrophy, Hypsarrhythmia, Ta... |
OMIM:601110 |
Simpson-Golabi-Behmel Syndrome |
|
Hypoplasia of penis, Congenital hip dislocation, Short neck, Vertebral segmentation defect, Clino... |
ORPHA:373 |
Microcephaly, Amish Type |
|
Hypoplasia of the fovea, Hepatomegaly, Flexion contracture, Optic atrophy, Irritability, Failure ... |
OMIM:607196 |
Monosomy 9P |
|
Hypospadias, Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Cryptorchi... |
ORPHA:261112 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Short neck, Small hand, Short... |
ORPHA:1001 |
Kapur-Toriello Syndrome |
|
Cataract, Ventricular septal defect, Single transverse palmar crease, Camptodactyly of finger, Sh... |
OMIM:244300 |
Cantu Syndrome |
|
Broad hallux, Bicuspid aortic valve, Short hallux, Coxa valga, Cardiomegaly, Pericardial effusion... |
OMIM:239850 |
Severe Congenital Nemaline Myopathy |
|
Hypospadias, Abnormal thorax morphology, Thin ribs, Micropenis, Adducted thumb |
ORPHA:171430 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Atrial septal defect, Posterior embryotoxon, Ventricular septal defect, Rocker bottom ... |
OMIM:612582 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... |
OMIM:309300 |
Chromosome 10Q26 Deletion Syndrome |
|
Small scrotum, Congenital hip dislocation, Single transverse palmar crease, 2-3 toe cutaneous syn... |
OMIM:609625 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Vitreous floaters, Weight loss, Cardiomyopathy, Impotence, Abnormal autonomic nervo... |
ORPHA:85447 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, Short neck, Bilateral cryptorchidism, Preaxial polydactyly, Coxa... |
OMIM:614976 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Optic disc pallor, Abnormal heart morphology, Depression, Pigmentary ... |
ORPHA:79264 |
Grange Syndrome |
|
Finger clinodactyly, Syndactyly, Brachydactyly |
OMIM:602531 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ... |
ORPHA:93260 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Optic atrophy, Irritability, Joint contra... |
OMIM:616881 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Overlapping toe, Cataract, Asymmetry of the ears, Cryptorchidism, Flexion contract... |
OMIM:614225 |
Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Micrognathia, Pectus excavatum, Ky... |
ORPHA:193 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Met... |
OMIM:272950 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Decreased serum testosterone concentration, Pes cavus, Scoliosis |
OMIM:609195 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Abnormality of the uterus, Triphalangeal thumb, Clinodactyly ... |
ORPHA:857 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Clinodactyly of the 5th finger, Syndactyly, Pectus excavatum, Broad palm |
OMIM:618505 |
Ruijs-Aalfs Syndrome |
|
Cataract, Lipodystrophy, Single transverse palmar crease, Down-sloping shoulders, Posterior subca... |
OMIM:616200 |
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Abnormal leukocyte morphology, Ataxia, Retrobulbar optic neuritis, Optic atrophy, Gait disturbance |
ORPHA:3151 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Hepatomegaly, Overlapping toe, Inability to walk, Flexion contracture, Optic atrophy, Gait ataxia... |
OMIM:619383 |
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Inguinal hernia, Arachnodactyly, Optic atrophy, Deviation of finger, Bilateral talipes equinovaru... |
ORPHA:1154 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly |
ORPHA:66629 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Absent brainstem auditory responses, Aganglionic megacolon, Heterochromia iridis, Short-segment a... |
OMIM:609136 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Pectus carinatum |
OMIM:616430 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Ataxia, Decreased nerve conduction velocity, Achilles tendon contracture, Sensorineural... |
OMIM:612674 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Tapered toe, Tapered finger, Bilateral cryptorchidism, Rib fusion, Clinodactyly of... |
ORPHA:544488 |
Transketolase Deficiency |
|
Hepatomegaly, Cataract, Ventricular septal defect, Abnormal repetitive mannerisms, Secondary amen... |
ORPHA:488618 |
Pseudohypoparathyroidism Type 1C |
|
Short metacarpal, Short fifth metatarsal, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:79444 |
Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Attention deficit hyperactivity disorder, Opacification of the corneal stroma |
ORPHA:461 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Premature ovarian insufficiency, Decreased circulating progesterone, Unsteady gait, Optic atrophy... |
OMIM:603896 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Abnormal clavicle morphology, Camptodactyly of finger, Abnorma... |
ORPHA:3138 |
Mucopolysaccharidosis Type 2, Severe Form |
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Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi... |
ORPHA:217085 |
Primary Ciliary Dyskinesia |
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Male infertility, Clubbing, Abnormal sperm motility, Female infertility |
ORPHA:244 |
Congenital Myopathy 22B, Severe Fetal |
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Hip contracture, Scapular winging, Thoracic scoliosis, Tapered toe, Shoulder flexion contracture,... |
OMIM:620369 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Diabetes mellitus, Optic atrophy, Cardiomyopathy, Progressive gait ataxia, Progressive cerebellar... |
ORPHA:1177 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal metacarpal morphology, Short distal phalanx of finger, Brachydactyly, Genu valgum |
ORPHA:1295 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
EEG abnormality, Hypertrophic cardiomyopathy, Failure to thrive, Cardiomegaly |
OMIM:614096 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
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Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of penis, Small scrotum, Cataract, Tapered finger, Cryptorchidism, Short toe, Large ea... |
ORPHA:127 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
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Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, S... |
OMIM:213980 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Short neck, Micrognathia, Abnormal form of the ... |
ORPHA:818 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly, Micrognathia |
ORPHA:314655 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Prominent metopic ridge, Broad hallux, Postaxial polydactyly, Pectus excavatum, Hip dysplasia, Ap... |
ORPHA:457284 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Attenuation of retinal blood vessels, Hepatomegaly, Inguinal hernia, Cataract, Rhizomelia, Supern... |
OMIM:614376 |
Tangier Disease |
|
Hepatomegaly, Peripheral axonal neuropathy, Splenomegaly, Facial diplegia, Opacification of the c... |
OMIM:205400 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Short metacarpal, Cataract, Ataxia, Splenomegaly, Sensorineu... |
ORPHA:773 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Hypothyro... |
ORPHA:268261 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Failure to thrive, Anemia |
OMIM:615085 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... |
OMIM:212140 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cataract, Splenomegaly, Jaundice, Decreased liver fu... |
OMIM:251290 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Hepatomegaly, Elevated hepatic transaminase, Cataract, Tapered toe, Posteriorly rotated... |
OMIM:608836 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Inguinal hernia, Congenital hip dislocation, Corneal opacity, Ataxia, Inability to walk, Athetosi... |
ORPHA:357058 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia, Tapered finger, Repetitive compulsive... |
ORPHA:401777 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Overlapping toe, Single transverse palmar crease, Pectus excavatum, Prominent sternum, ... |
ORPHA:254528 |
Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Small scrotum, Cryptorchidism, Inability to walk, Flex... |
OMIM:615663 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi... |
ORPHA:217093 |
3C Syndrome |
|
Finger syndactyly, Micrognathia, Missing ribs, Short neck, Kyphosis, Hemivertebrae, Hand polydact... |
ORPHA:7 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Single transverse palmar crease, Thrombocytopenia, Eleva... |
OMIM:620185 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Ventricular septal defect, Retinal dystrophy, Anorexia, Megaloblastic anemia, ... |
ORPHA:49827 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Talipes, Single transverse palmar crease, Limb undergrowth, Polymicrogyria, Pes cavus |
ORPHA:79243 |
Pitt-Hopkins Syndrome |
|
Pes planus, Single transverse palmar crease, Supernumerary nipple, Tapered finger, Short neck, Cr... |
ORPHA:2896 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Clitoral hypoplasia, Foot olig... |
OMIM:305600 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Kyphoscoliosis, Patent ductus arteriosus, Hip dislocation, Limb undergrowth, Hypothyroidism |
OMIM:618005 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Coxa valga, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Short distal phalanx of... |
ORPHA:2163 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Oculomaxillofacial Dysostosis |
|
Brachydactyly, Corneal opacity, Camptodactyly of finger, Abnormality of the humerus, Adducted thumb |
ORPHA:1794 |
Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Restlessness, Corneal opacity, Single transverse pal... |
OMIM:615273 |
Neu-Laxova Syndrome |
|
External genital hypoplasia, Micromelia, Abnormal cortical gyration, Micrognathia, Abnormality of... |
ORPHA:2671 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Waddling gait, Spastic ataxia, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Upper l... |
OMIM:607259 |
X Small Rings |
|
Toe syndactyly, Tapered finger, Short neck, 2-3 toe syndactyly, Upper limb undergrowth, Cutaneous... |
ORPHA:96201 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Joint dislocation, Decreased response to growth hormone stimulation test, Ca... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Joint dislocation, Decreased response to growth hormone stimulation test, Ca... |
ORPHA:363958 |
Distal Monosomy 7Q36 |
|
Hypoplasia of penis, Cryptorchidism, Optic atrophy, Symphalangism affecting the phalanges of the ... |
ORPHA:1636 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte... |
OMIM:216340 |
Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing, Platyspondyly... |
OMIM:259770 |
Triple A Syndrome |
|
Ataxia, Sensorineural hearing impairment, Optic atrophy, Palmoplantar keratoderma, Adrenal insuff... |
ORPHA:869 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Congenital hip dislocation, Microvesicular hepatic steatosis, Axonal loss, Shoulder dislocation, ... |
ORPHA:404454 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Adams-Oliver Syndrome |
|
Finger syndactyly, Brachydactyly, Failure to thrive, Cataract, Abnormal pulmonary valve morpholog... |
ORPHA:974 |
Alpha-Mannosidosis, Infantile Form |
|
Optic disc pallor, Pancytopenia, Mixed hearing impairment, Cataract, Corneal opacity, Ataxia, Sen... |
ORPHA:309282 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Galactokinase Deficiency |
|
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Small for gestatio... |
ORPHA:79237 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Premature ovarian insufficiency, Cataract, Diabetes mellitus, Abnormality of the thyroid gland, D... |
OMIM:609286 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Optic atrophy, Progressive cerebellar ataxia, Progressive gait ataxia, Upper limb hypertonia, Emo... |
ORPHA:254343 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal optic disc morphology, Heari... |
ORPHA:65 |
Vater/Vacterl Association |
|
Syndactyly, Hypospadias, Absent radius, Short thumb, Patent ductus arteriosus, Hypoplasia of the ... |
OMIM:192350 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Hearing impairment, Retrobulbar optic neuritis, Splenom... |
ORPHA:1451 |
Neurofibromatosis Type 1 |
|
Multiple lipomas, Pheochromocytoma, Chorioretinal coloboma, Heterochromia iridis, Spinal neurofib... |
ORPHA:636 |
Null Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Difficulty walking... |
ORPHA:280234 |
Legius Syndrome |
|
Ovarian neoplasm, Diaphyseal dysplasia, Abnormal sternum morphology, Polydactyly, Male urethral m... |
ORPHA:137605 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Inguinal hernia, Toe syndactyly, Cataract, Cryptorchidism, Sensorineural he... |
ORPHA:250989 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Hyperlordosis, ... |
ORPHA:794 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Mevalonic Aciduria |
|
Elevated hepatic transaminase, Optic disc pallor, Normocytic hypoplastic anemia, Cataract, Poster... |
OMIM:610377 |
Leukodystrophy, Hypomyelinating, 22 |
|
Optic disc pallor, Inability to walk, Flexion contracture, Astigmatism, Upper limb hypertonia |
OMIM:619328 |
Sanjad-Sakati Syndrome |
|
Low-set, posteriorly rotated ears, Hypoparathyroidism, Hypoplasia of penis, Corneal opacity, Abno... |
ORPHA:2323 |
Fabry Disease |
|
Abnormal endocardium morphology, Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal ... |
ORPHA:324 |
Fg Syndrome 3 |
|
Hyperactivity, Broad hallux, Cryptorchidism, Sensorineural hearing impairment, Joint contracture,... |
OMIM:300406 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Cataract, Sclerocornea, Cryptorchidism, Sensorineural hearing impai... |
OMIM:614230 |
X-Linked Intellectual Disability, Najm Type |
|
Failure to thrive, Cataract, Optic nerve hypoplasia, Sensorineural hearing impairment, Optic atro... |
ORPHA:163937 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Clinodactyly, Scoliosis |
ORPHA:2169 |
19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Finger syndactyly, Toe syndactyly, Ventricular septal defect, Hypospadias, Supernu... |
ORPHA:217346 |
Dpagt1-Cdg |
|
Flexion contracture, Diffuse optic disc pallor, Hepatomegaly, Arachnodactyly, Ataxia, Hypsarrhyth... |
ORPHA:86309 |
Bone Marrow Failure Syndrome 3 |
|
Congenital hip dislocation, Aplastic anemia, Pancreatic steatosis, Retinal dysplasia, Hernia, Neu... |
OMIM:617052 |
Mosaic Trisomy 16 |
|
Syndactyly, Single transverse palmar crease, Short thumb, Abnormal thorax morphology, Short femor... |
ORPHA:1708 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Postaxial p... |
OMIM:614576 |
Codas Syndrome |
|
Short metacarpal, Cataract, Ventricular septal defect, Abnormal dental enamel morphology, Congeni... |
ORPHA:1458 |
Aprosencephaly Syndrome |
|
Hand oligodactyly |
OMIM:207770 |
Angelman Syndrome |
|
Keratoconus, Optic disc pallor, Hyperactivity, Broad-based gait, Precocious puberty in females, A... |
ORPHA:72 |
Gaucher Disease |
|
Cherry red spot of the macula, Hepatomegaly, Ataxia, Abnormal pericardium morphology, Hepatitis, ... |
ORPHA:355 |
Abetalipoproteinemia |
|
Cardiomegaly, Dysmetria, Gait ataxia, Steppage gait, Hepatic fibrosis, Hypothyroidism, Hepatic st... |
ORPHA:14 |
Cln5 Disease |
|
Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Inability to walk, Uns... |
ORPHA:228360 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Peripheral axonal neuropathy, Ataxia, Sensorineural hearing impairment, Optic atrophy, Truncal at... |
OMIM:601338 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Wrist swelling, Retinal pigment epithelial mottling, Chor... |
ORPHA:448237 |
Occipital Horn Syndrome |
|
Short humerus, Pes planus, Pelvic bone exostoses, Coxa valga, Broad clavicles, Capitate-hamate fu... |
OMIM:304150 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Precocious puberty, Delayed puberty, Small hand, Rib fusion, Hip d... |
ORPHA:50 |
Stüve-Wiedemann Syndrome |
|
Bowing of the long bones, Sacral dimple, Camptodactyly of finger, Micromelia, Metaphyseal widenin... |
ORPHA:3206 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Familial Dysautonomia |
|
Abnormal peritoneum morphology, Orthostatic hypotension, Corneal opacity, Ataxia, Abnormal pupil ... |
ORPHA:1764 |
Myhre Syndrome |
|
Vertebral fusion, Overlapping toe, Short neck, Cryptorchidism, Short toe, Patent ductus arteriosu... |
OMIM:139210 |
Helsmoortel-Van Der Aa Syndrome |
|
Pes planus, Broad hallux, Sandal gap, Decreased response to growth hormone stimulation test, Tape... |
OMIM:615873 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Increased intervertebral space, Broad ischia, Diaphyseal dysplasia, Platys... |
OMIM:619727 |
Craniorachischisis |
|
Bifid sternum, Sirenomelia |
ORPHA:63260 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Limb undergrowth, Short toe, Short phalanx of finger, Micrognathia |
OMIM:225410 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Impulsivity, Unsteady gait, Optic atrophy, Hypsarrhythmia, EEG with multifocal slow activ... |
ORPHA:442835 |
Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Micrognathia, Abnormal foot morphology, Cutaneous syndactyly, Talipes equinovaru... |
OMIM:617822 |
Muckle-Wells Syndrome |
|
Hepatomegaly, Camptodactyly of finger, Splenomegaly, Optic atrophy, Conjunctivitis, Delayed puber... |
ORPHA:575 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Sandal gap, Sclerocornea, Cataract, Obesity, Aniridia,... |
ORPHA:251038 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly |
OMIM:614520 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Mucolipidosis Ii Alpha/Beta |
|
Cardiomegaly, Metaphyseal widening, Megalocornea, Hepatomegaly, Split hand, Flat acetabular roof,... |
OMIM:252500 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Papilledema, Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, ... |
ORPHA:371428 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Ataxia, Thrombocytopenia, Optic atrophy, Choreoathetosis, Leukop... |
ORPHA:27 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Prominent metopic ridge, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Micrognathia, ... |
OMIM:613457 |
Infantile Neuroaxonal Dystrophy |
|
Peripheral axonal neuropathy, Hyperactivity, Ataxia, Impulsivity, Flexion contracture, Optic atro... |
ORPHA:35069 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Ataxia, Supernumerary nipple,... |
ORPHA:1173 |
Distal Deletion 13Q |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Optic atrophy, Primary adrenal insuffic... |
ORPHA:1590 |
Meckel Syndrome, Type 1 |
|
Syndactyly, Bowing of the long bones, External genital hypoplasia, Postaxial polydactyly, Camptod... |
OMIM:249000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Cataract, Peters an... |
OMIM:236670 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Pes planus, Cholelithiasis, Tapered finger, Precocious puberty, Hyperlordosis, Hip dislocation, G... |
OMIM:301066 |
Microphthalmia, Syndromic 2 |
|
Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Microcornea, Atrial septal de... |
OMIM:300166 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Ataxia, Abnormal auditory evoked pot... |
ORPHA:99027 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Atrial se... |
ORPHA:363528 |
Desmosterolosis |
|
Talipes, Micromelia, Abnormal cortical gyration, Metatarsus adductus, Micrognathia, Patent ductus... |
ORPHA:35107 |
C Syndrome |
|
Joint dislocation, Sacral dimple, Toe syndactyly, Bilateral single transverse palmar creases, Tal... |
ORPHA:1308 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Ataxia, Depression, Pigmentary ret... |
ORPHA:79095 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Macrodactyly, 2-4 toe syndactyly, Hydrocele testis, Foot polydactyly, Scoliosis, Ovarian serous c... |
ORPHA:276280 |
Corneal Dystrophy And Perceptive Deafness |
|
Sensorineural hearing impairment, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Ataxia, Loss of ability to walk in early childhood, Unsteady gait, Optic atrophy, Irritability, L... |
ORPHA:401866 |
Coffin-Lowry Syndrome |
|
Abnormality of retinal pigmentation, Short metacarpal, Brachydactyly, Pseudoepiphyses of the meta... |
ORPHA:192 |
Apert Syndrome |
|
Syndactyly, Finger syndactyly, Limited elbow movement, Preaxial hand polydactyly, Delayed epiphys... |
OMIM:101200 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Limb Body Wall Complex |
|
Ventral hernia, Atrial septal defect, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia... |
ORPHA:2369 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Friedreich Ataxia |
|
Hand muscle atrophy, Decreased motor nerve conduction velocity, Diabetes mellitus, Inability to w... |
ORPHA:95 |
Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Decreased serum insulin-like growth factor 1, Cryptorchidism, Bulimia, 2-3 toe... |
ORPHA:314389 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Retinal coloboma, R... |
ORPHA:363741 |
Nicolaides-Baraitser Syndrome |
|
Long toe, Hallux valgus, Short metacarpal, Sandal gap, Single transverse palmar crease, Broad 2nd... |
OMIM:601358 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Long fingers, Calcaneovalgus deformity, Abnormality of the palmar creases, Tapered finger |
ORPHA:521445 |
Rubinstein-Taybi Syndrome 1 |
|
Plantar crease between first and second toes, Single transverse palmar crease, Premature thelarch... |
OMIM:180849 |
White-Sutton Syndrome |
|
Congenital diaphragmatic hernia, Tics, Atrial septal defect, Abnormal repetitive mannerisms, Pate... |
OMIM:616364 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly |
OMIM:616028 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, Narrow iliac wing |
OMIM:616294 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Enlargement of the ankles, Irregular ... |
ORPHA:99646 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Split hand, Split foot... |
ORPHA:2008 |
Oculodentodigital Dysplasia |
|
Finger syndactyly, Abnormal clavicle morphology, Toe syndactyly, Camptodactyly of finger, Short h... |
ORPHA:2710 |
Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Hip dislocation, Protruding ear, Developmental cataract, Talipes equinovarus, Lo... |
OMIM:616603 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Wide capital femoral epiphyses, Small for gestational age, Corneal opacity, Ab... |
ORPHA:1830 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Fryns Syndrome |
|
Omphalocele, Low-set, posteriorly rotated ears, Aganglionic megacolon, Hypospadias, Congenital di... |
ORPHA:2059 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Sandal gap, Micrognathia, Mesomelia, Camptodactyly, Prominent fingertip pads, Clino... |
OMIM:618529 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly |
OMIM:619064 |
Lead Poisoning |
|
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Decreased circulati... |
ORPHA:330015 |
Stromme Syndrome |
|
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Preaxial polydactyly, Microcorn... |
OMIM:243605 |
Chromosome 18Q Deletion Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Conductive he... |
OMIM:601808 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Cardiomegaly, Pericardial effusion, Optic atrophy, Hypertrophic cardio... |
OMIM:614702 |
Myoclonic-Astatic Epilepsy |
|
Syndactyly |
ORPHA:1942 |
Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Talipes, Micromelia, Micrognathia, Mesomelia |
ORPHA:1908 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Short metatarsal, Broad palm, Elbow flexion contracture, ... |
OMIM:608328 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping toe, Single transverse palmar crease, Kyphosis, Deviation of the 2... |
ORPHA:464738 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, EEG with burst suppression, Sensorineu... |
OMIM:617713 |
Keratoendotheliitis Fugax Hereditaria |
|
Epiretinal membrane, Conjunctival hyperemia, Keratitis, Opacification of the corneal stroma |
OMIM:148200 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Keratitis, Splenomegaly, Jaundice, Th... |
ORPHA:525731 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Woods Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Supernumerary nipple, Optic atrophy, ... |
OMIM:615236 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Hypoplasia of penis, Ataxia, Bilateral cryptorchidism, Microvesicu... |
ORPHA:66634 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Shoulder dislocation, Atria... |
OMIM:245600 |
Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Micrognath... |
ORPHA:2753 |
Phakomatosis Pigmentokeratotica |
|
Precocious puberty, Cryptorchidism, Pheochromocytoma, Scoliosis, Hemiatrophy |
ORPHA:2874 |
Cog1-Cdg |
|
Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Micrognathia, Short nec... |
ORPHA:263508 |
Lethal Acantholytic Erosive Disorder |
|
4-5 finger syndactyly, 2-3 finger syndactyly, Clinodactyly of the 5th finger, 3-4 finger syndacty... |
ORPHA:158687 |
Curry-Jones Syndrome |
|
Duplication of thumb phalanx, Preaxial hand polydactyly, 2-3 finger syndactyly, Triphalangeal hal... |
OMIM:601707 |
Cranioectodermal Dysplasia 2 |
|
Syndactyly, Rhizomelia, Craniosynostosis, Short neck, Pectus excavatum, Micrognathia, Postaxial h... |
OMIM:613610 |
Chromosome 15Q25 Deletion Syndrome |
|
Inguinal hernia, Macrocytic anemia, Ventricular septal defect, Dextrocardia, Congenital diaphragm... |
OMIM:614294 |
Osteogenesis Imperfecta |
|
Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Osteoarthritis, Abnormal ... |
ORPHA:666 |
Spondyloocular Syndrome |
|
Long toe, Retinal detachment, Cataract, Overlapping toe, Arachnodactyly, Femur fracture, Posterio... |
OMIM:605822 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Facial palsy, Sensorineural hearing impairment, Optic atrophy, Truncal ataxia, Secondary amenorrh... |
OMIM:258450 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Metaphyseal widening, Flexion contracture, Optic atrophy, Clubbing, T... |
OMIM:617303 |
Aspartylglucosaminuria |
|
Kyphosis, Hypoplastic frontal sinuses, Platyspondyly, Spondylolysis, Scoliosis, Macroorchidism, B... |
OMIM:208400 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Micrognathia, Rib fusion, Hand polydactyly, Scoliosis, Abnormal vertebral morphology |
ORPHA:261197 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
2P15P16.1 Microdeletion Syndrome |
|
Protruding ear, Bilateral single transverse palmar creases, Facial palsy, Tapered finger, EEG abn... |
ORPHA:261349 |
Adnp Syndrome |
|
Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morphology, Cryptorchidis... |
ORPHA:404448 |
Hallermann-Streiff Syndrome |
|
Abnormality of the hand, Hyperlordosis, Pectus excavatum, Cryptorchidism, Metaphyseal widening, M... |
OMIM:234100 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Cataract, Ventricular septal defect, Hearing impairment, Sensorineural hear... |
OMIM:220500 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Absent thumb, EEG with burst suppression, Hypsarrhythmia, Pulmonic stenosis, Atria... |
OMIM:619239 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Flexion contracture of finger, Cataract, Ataxia, Axonal ... |
ORPHA:88628 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Cataract, Corneal opacity, Abnormality of cartilage of external ear, Cupped e... |
ORPHA:2399 |
Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Hypo... |
OMIM:601186 |
Pseudohypoparathyroidism Type 1A |
|
Short metacarpal, Short fifth metatarsal, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:79443 |
Trichohepatoneurodevelopmental Syndrome |
|
Overlapping toe, Pectus excavatum, Hypothyroidism, Patent ductus arteriosus, Hip dislocation, Abs... |
OMIM:618268 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Failure to thrive, Femur fracture, Facial palsy, Splenomegaly, Thromb... |
OMIM:259700 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... |
OMIM:306955 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Broad hallux, Periventricular heterotopia, Micrognathia, Epispadias, Cryptorch... |
OMIM:615948 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cataract, Ataxia, Pericardial effusion, Optic atrophy, Opto-chiasmatic atrophy, Gait ataxia, Card... |
OMIM:620089 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Micrognathia, Abnormal form of the vertebral bodies, Vertebral f... |
OMIM:194190 |
Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
Galactosemia I |
|
Hepatomegaly, Hemolytic anemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ... |
OMIM:230400 |
Jaberi-Elahi Syndrome |
|
Broad-based gait, Cataract, Inability to walk, Optic atrophy, Dysmetria, Protruding ear, Choreoat... |
OMIM:617988 |
7Q11.23 Microduplication Syndrome |
|
Single transverse palmar crease, Congenital diaphragmatic hernia, Dysmetria, Abnormal optic disc ... |
ORPHA:96121 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius |
ORPHA:1765 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Equinovarus deformity, Equinus calcaneus, Decreased patellar reflex, Pes cavus |
ORPHA:746 |
Hamamy Syndrome |
|
Long toe, Syndactyly, Down-sloping shoulders, Tapered finger, Micrognathia, Long fingers, Pectus ... |
OMIM:611174 |
Halperin-Birk Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Inability to walk, Flexion contracture, Optic a... |
OMIM:618651 |
Vitamin K Antagonist Embryofetopathy |
|
Cataract, Hearing impairment, Optic atrophy, Epiphyseal stippling, Microtia, Short distal phalanx... |
ORPHA:1914 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Thin ribs, Blind vagina, Micropenis, Penile... |
ORPHA:456328 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Inability to walk, Weight loss, Pigmentary retinopathy, Tip-toe gait, Gait dis... |
ORPHA:216866 |
Pelvis-Shoulder Dysplasia |
|
Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic ilia, Optic disc coloboma, Hypoplas... |
OMIM:169550 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Abnormality of the liver, Conductive hearing impa... |
ORPHA:1606 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Cardiomegaly, Microcytic anemia, Adipose tissue loss, Flexion contracture, Elevated circulating t... |
OMIM:256040 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Small for gestational age, Hearing impairment, Optic atrophy, Right ve... |
OMIM:614261 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Ataxia, Tapered finger, Inability to walk, Optic atrophy, Dysmetria, Astigmatism, Dysphagia, Clin... |
OMIM:619576 |
Osteopetrosis, Autosomal Recessive 4 |
|
Optic disc pallor, Hepatomegaly, Reticulocytosis, Facial palsy, Splenomegaly, Optic atrophy, Anem... |
OMIM:611490 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Pes planus, Single tran... |
OMIM:303600 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Hemolytic anemia, Acute pancreatitis, ... |
OMIM:619487 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... |
OMIM:618195 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Lumbar hyperlordosis, Equinus calcaneus, 2-3 toe syndactyly, Bilateral talipes equinovarus, Scoli... |
ORPHA:522077 |
Leigh Syndrome |
|
Ataxia, Sensorineural hearing impairment, Optic atrophy, Hepatocellular necrosis, Pigmentary reti... |
OMIM:256000 |
13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Hip dysplasia, Camptodac... |
ORPHA:412035 |
Chime Syndrome |
|
Ventricular septal defect, Corneal opacity, Aplastic clavicle, Aplasia/Hypoplasia of the phalange... |
ORPHA:3474 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Cryptorchidism, Obesity, Hypogonadism, Retinal coloboma, Rod-cone dystrophy |
OMIM:601794 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Chorioretinal dysplasia, Congenital diaphragmatic hernia, Sclerocornea, Epispadias, Vitritis, Ret... |
ORPHA:2556 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Inguinal hernia, Hypospadias, Cryptorchidism, Abnormal heart morphology, Microcornea, Opacificati... |
OMIM:601499 |
Trisomy 18 |
|
Microretrognathia, Camptodactyly of finger, Cryptorchidism, Postaxial hand polydactyly, Abnormali... |
ORPHA:3380 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Coxa valga, Splenomegaly, Flexion contracture, Vacuolated lymphocytes... |
OMIM:230000 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Short ... |
OMIM:208150 |
Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditis |
ORPHA:615 |
Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries, Opa... |
ORPHA:1643 |
Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O... |
ORPHA:1359 |
Bohring-Opitz Syndrome |
|
Syndactyly, Sacral dimple, Overlapping toe, Ulnar deviation of the wrist, Tapered finger, Mesomel... |
OMIM:605039 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Single transverse palmar crease, Congenital diaphrag... |
OMIM:309801 |
Dystonia-Deafness Syndrome 1 |
|
Cataract, Small for gestational age, Hypoplastic scapulae, Femoral retroversion, Sensorineural he... |
OMIM:607371 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short foot, Limb undergrowt... |
OMIM:617809 |
Aspergillosis |
|
Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology |
ORPHA:1163 |
Aicardi Syndrome |
|
Block vertebrae, Proximal placement of thumb, Missing ribs, Precocious puberty, Hemivertebrae, Ri... |
OMIM:304050 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Hyperactivity, Splenomegaly, Asymmetric septal hypertrophy, Hernia, Dysphagia, Rod-... |
OMIM:252930 |
Lathosterolosis |
|
Hepatomegaly, Hypoplasia of penis, Toe syndactyly, Cataract, Intrahepatic cholestasis, Postaxial ... |
ORPHA:46059 |
Roberts-Sc Phocomelia Syndrome |
|
Tetraphocomelia, Knee flexion contracture, Atrial septal defect, Phocomelia, Wrist flexion contra... |
OMIM:268300 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad-based gait, Hypospadias, Optic nerve hypoplasia, Corneal dystrophy, Aggressive behavior, Co... |
ORPHA:495875 |
Cerebrocostomandibular Syndrome |
|
11 pairs of ribs, Short humerus, 10 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyse... |
OMIM:117650 |
Timothy Syndrome |
|
Cutaneous syndactyly |
OMIM:601005 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Abnormal optic disc morphology, Short palm, Clinodactyly of the 5th finger... |
ORPHA:508498 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Cardiospondylocarpofacial Syndrome |
|
Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Short foot, Pseudoepiphyses, Fused cervical... |
OMIM:157800 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Inguinal hernia, Hyperactivity, Splenomegaly, Asymmetric septal hypertrophy, Umbili... |
OMIM:252900 |
Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn... |
ORPHA:2473 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated hepatic transaminase, Cataract, Microcytic anemia, Optic atrophy, Low-set ears, Dysphagi... |
OMIM:612379 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, Inguinal hernia, Failure to thrive, Rhizomelia, Optic nerve hypoplasia, Cataract, ... |
OMIM:222765 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Lower limb asymmetry, Abnormal sacroiliac joint morphology, Enlargeme... |
ORPHA:289176 |
Marfan Syndrome |
|
Pes planus, Medial rotation of the medial malleolus, Arachnodactyly, Protrusio acetabuli, Kyphosc... |
OMIM:154700 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, Depression, Protruding ear, EEG abnormality, Hip dysplas... |
OMIM:618798 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Optic atrophy, Anemia, Choreoathetosis, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
Macrodactyly |
|
Macrodactyly |
OMIM:155500 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cataract, Hearing impairment, Cardiomegaly |
ORPHA:3137 |
Fryns Syndrome |
|
Bifid scrotum, Microretrognathia, Ectopic pancreatic tissue, Hypospadias, Single transverse palma... |
OMIM:229850 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Catarac... |
ORPHA:99956 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Sclerocornea, Cardi... |
ORPHA:3472 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Corneal opacity, Cardiomegaly, Optic atrophy, Polycystic... |
ORPHA:137675 |
Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Bowed humerus, Corneal opacity, Sclerocornea, Bilateral talipes ... |
OMIM:609465 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Ataxia, Optic atrophy, Pigmentary retinopathy, Fatigable weakness of swallowing mus... |
ORPHA:436271 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular... |
OMIM:600649 |
Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Decreased response to growth hormone stimulation test, A... |
OMIM:601853 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Pes planus, Prominent metopic ridge, Postaxial polydactyly, Supernumerary nipple, Sagittal cranio... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Pes planus, Prominent metopic ridge, Postaxial polydactyly, Supernumerary nipple, Sagittal cranio... |
ORPHA:352665 |
Hydrolethalus Syndrome 1 |
|
Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha... |
OMIM:236680 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Sclerocornea, Cryptorchidism, Limbal dermoid, Hypoplasia of the iris, ... |
OMIM:613001 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Hyperactivity, Overlapping toe, Single transverse palmar crease, Posteriorly rotat... |
OMIM:619148 |
Opitz-Kaveggia Syndrome |
|
Syndactyly, Sacral dimple, Lumbar hyperlordosis, Broad hallux, Single transverse palmar crease, M... |
OMIM:305450 |
Chops Syndrome |
|
Cataract, Ventricular septal defect, Hearing impairment, Splenomegaly, Cryptorchidism, Optic atro... |
OMIM:616368 |
Schimke Immunoosseous Dysplasia |
|
Waddling gait, Pancytopenia, Small for gestational age, Bilateral cryptorchidism, Thrombocytopeni... |
OMIM:242900 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... |
ORPHA:206436 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma... |
OMIM:612109 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Chorioretinal dysplasia, Abnormal pupil morphology, Protruding ear, Lentiglo... |
ORPHA:534 |
Glutamine Deficiency, Congenital |
|
Micromelia, Camptodactyly |
OMIM:610015 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... |
OMIM:604229 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Micromelia, Proximal placement of thumb, Micrognathia, 2-3 toe cuta... |
OMIM:270400 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Cutaneous finger syndactyly, Short palm, Conductive hearing impairment, Atrial septal defect, Hyp... |
OMIM:235510 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Optic disc pallor, Hepatomegaly, Ataxia, Portal hypertension, Sple... |
OMIM:216360 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Obesity, Cardiomegaly |
ORPHA:88643 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Peroxisome Biogenesis Disorder 4B |
|
Hepatomegaly, Retinal dystrophy, Single transverse palmar crease, Ataxia, Decreased nerve conduct... |
OMIM:614863 |
Tangier Disease |
|
Orange discolored tonsils, Peripheral axonal neuropathy, Corneal opacity, Chronic noninfectious l... |
ORPHA:31150 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus... |
ORPHA:3186 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Dysmetria, Protruding ear, Compulsive b... |
ORPHA:904 |
Joubert Syndrome 14 |
|
Postaxial polydactyly |
OMIM:614424 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Peters Plus Syndrome |
|
Micromelia, Bicuspid pulmonary valve, Microcornea, Clitoral hypoplasia, Conductive hearing impair... |
ORPHA:709 |
Gm1-Gangliosidosis, Type Iii |
|
Hypoplastic acetabulae, Flared iliac wing, Ataxia, Opacification of the corneal stroma |
OMIM:230650 |
Fanconi Anemia |
|
Abnormal femur morphology, Leukopenia, Abnormality of the liver, Abnormality of the uterus, Triph... |
ORPHA:84 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Retinal nonattach... |
OMIM:221900 |
Cerebellofaciodental Syndrome |
|
Cataract, Ventricular septal defect, Single transverse palmar crease, Tapered finger, Aggressive ... |
OMIM:616202 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
Alström Syndrome |
|
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Elevated circulating t... |
ORPHA:64 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Conductive hearing impairment,... |
ORPHA:353281 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, EEG with burst suppr... |
OMIM:606056 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Sacral dimple, Short proximal phalanx of the 2nd finger... |
ORPHA:261323 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Sensorineura... |
ORPHA:293603 |
Stt3B-Cdg |
|
Small scrotum, Cryptorchidism, Optic atrophy, Micropenis, Failure to thrive, Thrombocytopenia |
ORPHA:370924 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Ataxia, Cardiomegaly, Hepatosplenomegaly, Impotence, Cherr... |
OMIM:268800 |
Charge Syndrome |
|
External genital hypoplasia, Abnormal palmar dermatoglyphics, Decreased response to growth hormon... |
OMIM:214800 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Finger syndactyly, Micrognathia, 2-3 toe syndactyly, Coronal cleft vertebrae, T... |
OMIM:620025 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Hyperlordosis, Palmoplantar hyperkeratosis, Bila... |
ORPHA:3253 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Akinesia, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatic failure, Hepatosple... |
OMIM:608013 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Small for gestational age, Cor pulmonale, Macronodular cirrhosis, Abnormal T cell morphology, Opa... |
OMIM:215250 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Small scrotum, Cryptorchidism, Optic atrophy, Micropenis, Failure to thrive, Thrombocytopenia |
OMIM:615597 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Abnormality of the lower limb, Abnormality of th... |
ORPHA:1556 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Macular atrophy, Situs inversus totalis, Posterior subcapsular cataract, Rod-c... |
OMIM:615434 |
Jacobsen Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hypospadias, Cryptorchidism, Flexion contracture... |
OMIM:147791 |
Olmsted Syndrome 1 |
|
Autoamputation of digits, Corneal opacity, Flexion contracture, Palmoplantar keratoderma, Opacifi... |
OMIM:614594 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Ma... |
ORPHA:2334 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Limited elbow movement, Cardiomegaly, ... |
ORPHA:268 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, EEG with abnormally slow frequ... |
ORPHA:98794 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Cataract, Ataxia, Pseudobulbar paralysis, Abnormality of central somatosensory... |
OMIM:213700 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Facial palsy, Hearing impairment, Optic atrophy, Genu valgum, Abno... |
ORPHA:53 |
Panhypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95513 |
Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Overlapping toe, Posteriorly rotated ears, Proximal placement of thumb, Tapered ... |
OMIM:616737 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, EEG abnormality, Gait d... |
ORPHA:206448 |
Wilson Disease |
|
Hypoparathyroidism, Hepatomegaly, Hemolytic anemia, Acute hepatic failure, Elevated circulating a... |
OMIM:277900 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Peripheral axonal neuropathy, Ataxia, Cardiomegaly, Sensorineural hearing impairment, Amyloid dep... |
OMIM:105210 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Mucopolysaccharidosis, Type Iiid |
|
Hepatomegaly, Inguinal hernia, Hyperactivity, Restlessness, Epiphyseal dysplasia, Aggressive beha... |
OMIM:252940 |
Galactosialidosis |
|
Conjunctival telangiectasia, Hepatosplenomegaly, Opacification of the corneal stroma, Cherry red ... |
OMIM:256540 |
Joubert Syndrome 1 |
|
Optic disc pallor, Hyperactivity, Retinal dystrophy, Ataxia, Aggressive behavior, Postaxial hand ... |
OMIM:213300 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95512 |
Prader-Willi Syndrome |
|
Syndactyly, Kyphosis, Acromicria, Small hand, Narrow palm, Genu valgum, Short foot, Hip dysplasia... |
OMIM:176270 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Micrognathia, Coxa valga, Short neck, Bell-shaped thorax, Coat hanger sign of rib... |
ORPHA:254519 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Long clavicles, Overlapping toe, Arachnodactyly, Single transverse palmar crease, Micrognathia, B... |
ORPHA:83617 |
Cockayne Syndrome |
|
Congenital contracture, Retinal arteriolar constriction, Lentiglobus, Progressive gait ataxia, Re... |
ORPHA:191 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, EEG with abnormally slow frequencies, Inability to walk, Unsteady gait, Optic at... |
OMIM:618493 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... |
OMIM:614839 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Chronic active hepatitis, Premature ovarian insufficiency, Female hypogonadis... |
OMIM:240300 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Raine Syndrome |
|
Bowing of the long bones, Micromelia, Short neck, Pectus excavatum, Micrognathia, Long hallux, Th... |
OMIM:259775 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... |
OMIM:158330 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Bull's eye maculopathy, Impulsivity, Acanthocytosis, Fractures of the long bones, Optic atrophy, ... |
ORPHA:157850 |
Cinca Syndrome |
|
Papilledema, Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Progressive sensori... |
OMIM:607115 |
Poems Syndrome |
|
Papilledema, Diabetes mellitus, Lipodystrophy, Metaphyseal sclerosis, Pericardial effusion, Hypot... |
ORPHA:2905 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Sandal gap, Decreased fibular diameter, Micrognathia, Pectus excavatum, Osteolytic defects of the... |
OMIM:619127 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Conjunctival icterus, Jaundice, Addictive al... |
ORPHA:57777 |
Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gallbladder dysfunction, Gait disturb... |
OMIM:250100 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circulating follicle sti... |
ORPHA:3044 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Finger syndactyly, Sacral dimple, Broad hallux phalanx, Preaxial hand polydactyly, Broad thumb |
ORPHA:2211 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Brachydactyly, Cataract, Sandal gap, Broad hallux, Scarring alopecia of scalp, Optic atrophy, Ect... |
OMIM:618727 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Hypogonadotropic hypogonadism, Hypospadias, Anterior pituitary hypoplasia, Miss... |
OMIM:206900 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Low-set ears, Ocular anterior se... |
OMIM:615145 |
Ciliary Dyskinesia, Primary, 12 |
|
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... |
OMIM:612650 |
8Q24.3 Microdeletion Syndrome |
|
Thoracic scoliosis, Congenital hip dislocation, Ectopic posterior pituitary, Single transverse pa... |
ORPHA:508488 |
Charge Syndrome |
|
Bifid scrotum, Hypogonadotropic hypogonadism, Talipes, Cryptorchidism, Abnormal tibia morphology,... |
ORPHA:138 |
14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Short foot, Short palm, Clinodactyly of the 5th ... |
ORPHA:264200 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Abnormality of retinal pigmentation, Hepatomegaly, Abnormal heart valve morphology, ... |
OMIM:309900 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Micrognathia, Short foot, Clinodactyly of the 5th fing... |
ORPHA:1974 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Hypospadias, Sclerocornea, Cryptorchidism, Iris c... |
ORPHA:77298 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Hepatomegaly, Extramedullary hematopoiesis, Pancytopenia, Facial palsy, Spleno... |
OMIM:259720 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Short femur, Hypospadias, Abnormal mitochondrial shape, Patent ductus arteriosus, ... |
ORPHA:17 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin... |
ORPHA:529808 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Syndactyly, Abnormal cortical gyration, Pancreatic cysts, Ovarian cyst, Short ... |
OMIM:311200 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin... |
ORPHA:529799 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Pterygium, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, ... |
OMIM:618052 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly |
OMIM:224120 |
Cerebrofacioarticular Syndrome |
|
Syndactyly, Micrognathia, Talipes equinovarus, Camptodactyly, Caudal appendage |
ORPHA:314679 |
Bohring-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Retinal atrophy, Ulnar deviation of the wrist, Cardiomegaly, I... |
ORPHA:97297 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Optic at... |
OMIM:259710 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Optic disc pallor, Failure to thrive, Arachnodactyly, Hypospadias, Ataxia, Coxa valga, Elbow disl... |
OMIM:620083 |
Proteus-Like Syndrome |
|
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormality of the parathyroid gl... |
ORPHA:2969 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Optic atrophy, EEG abnormality, Progressive cerebellar ataxia, Prolonged neonatal jaundice, Dysph... |
OMIM:618868 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Abnormal thumb morphology, Metatarsus adductus, Spina bifida occulta, Tibial bowing, Large hands,... |
ORPHA:500095 |
Congenital Fibrosis Of Extraocular Muscles |
|
Polymicrogyria, Hypogonadotropic hypogonadism, Hand oligodactyly |
ORPHA:45358 |
Mckusick-Kaufman Syndrome |
|
Syndactyly, Congenital hip dislocation, Mesoaxial hand polydactyly, Postaxial hand polydactyly, P... |
OMIM:236700 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnormal fear-induced... |
ORPHA:100924 |
Acrocephalopolydactylous Dysplasia |
|
Pancreatic fibrosis, Craniosynostosis, Micromelia, Short neck, Postaxial hand polydactyly |
OMIM:200995 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Decreased serum testosterone concentration, Hypogonadism, Decreased testicular size |
OMIM:201100 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Small scrotum, Female hypogonadism, Single transverse palma... |
OMIM:607932 |
Agel Amyloidosis |
|
Cataract, Ataxia, Facial palsy, Depression, Cardiomyopathy, Keratoconjunctivitis sicca, Abnormal ... |
ORPHA:85448 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Posteriorly rotated ears, Corneal opacity, Keratitis, Microtia, Conjunctivitis |
OMIM:602562 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Aplastic clavicle, Abnormal metacarpal morphology, Kyphosis, Abnormal finger m... |
ORPHA:2658 |
Myotonic Dystrophy 2 |
|
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... |
OMIM:602668 |
Adult Syndrome |
|
Finger syndactyly, Toe syndactyly, Split foot |
ORPHA:978 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Arachnodactyly, Lens subluxati... |
ORPHA:171844 |
Classic Homocystinuria |
|
Elevated hepatic transaminase, Retinal detachment, Abnormality of retinal pigmentation, Hepatomeg... |
ORPHA:394 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cataract, Cryptorchidism, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, ... |
OMIM:300578 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Syndactyly, Hypospadias, Broad hallux, Deviation of the hallux, Micrognathia, Avascular necrosis ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Syndactyly, Hypospadias, Broad hallux, Deviation of the hallux, Micrognathia, Avascular necrosis ... |
ORPHA:353277 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Optic disc pallor, Failure to thrive, Small for gestational age, Cataract, Sclerocorn... |
OMIM:619869 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... |
ORPHA:83461 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Restlessness, Decreased body mass ind... |
ORPHA:247585 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Short neck, Micrognathia, Tibial bowing, Broad ribs, Micropenis, St... |
ORPHA:798 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Micrognathia, Lower limb asymmetry, Scoliosis, Clin... |
ORPHA:96182 |
Khan-Khan-Katsanis Syndrome |
|
Sacral dimple, Patent ductus arteriosus after premature birth, Postaxial polydactyly, Micrognathi... |
OMIM:618460 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Congenital hip dislocation, Thoracolumbar scoliosis, Tapered finger, Cyst of the ductus choledoch... |
ORPHA:480880 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... |
ORPHA:85450 |
White-Sutton Syndrome |
|
Ventral hernia, Inguinal hernia, Hyperactivity, Posteriorly rotated ears, Congenital diaphragmati... |
ORPHA:468678 |
Distal Deletion 12Q |
|
Single transverse palmar crease, Biliary atresia, Aplasia/Hypoplasia of the middle phalanx of the... |
ORPHA:96149 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Coccidioidomycosis |
|
Abnormal sperm morphology, Abnormality of the endocrine system, Abnormal long bone morphology, Ar... |
ORPHA:228123 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormal toe morphology, Precocious puberty, Abnormal finger morphology, Corneal opacity |
OMIM:163200 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Hepatic fibrosis, Atrial septal defect, Hypothyroidism, Patent foramen ... |
OMIM:620005 |
Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility |
OMIM:612649 |
Fraser Syndrome 3 |
|
Short toe, Micrognathia, Cutaneous syndactyly |
OMIM:617667 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Congenital Tufting Enteropathy |
|
Cataract, Corneal erosion, Optic disc coloboma, Weight loss, Irritability, Cholestatic liver dise... |
ORPHA:92050 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Bicuspid aortic valve, Single transverse palmar crease, Protruding ear, Tics, Chor... |
OMIM:619475 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Pes planus, Rhizomelia, 2-3 toe syndactyly, Recurrent patellar dislocation, 3-4 finger syndactyly |
OMIM:615877 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Hypoparathyroidism, Cataract, Pulmonary lymphangiectasia, Mitral valve prolapse, Increased carryi... |
OMIM:247410 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature, Apla... |
ORPHA:1521 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis, Hypertrophic cardiomyop... |
OMIM:201475 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Failure to thrive |
ORPHA:99931 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Limb ataxia, Truncal ataxia, Hypertrophic cardiomyopathy |
OMIM:619051 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia, Short neck, Clinodactyly of the... |
ORPHA:1587 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Limb joint contracture, Ataxia, Optic atrophy, Pigmentary retinopathy, Athetos... |
OMIM:617282 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Abnormality of the uterus, Atrial septal defect, Conductive hearing imp... |
ORPHA:567 |
Tay-Sachs Disease |
|
Precocious puberty, Inability to walk, Optic atrophy, Dysmetria, Hepatosplenomegaly, Depression, ... |
ORPHA:845 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Single transverse palmar crease, Limited elbow movement, Proximal place... |
OMIM:261540 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Sandal gap, Abnormal retinal vascular morphology, ... |
ORPHA:2715 |
Galloway-Mowat Syndrome 1 |
|
Cataract, Small for gestational age, Ataxia, Hiatus hernia, Macrotia, Optic atrophy, Hypoplasia o... |
OMIM:251300 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Ambiguous genitalia, Aganglionic megacolon, Abnormal hemoglobin, Abnormality... |
ORPHA:847 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Mi... |
OMIM:614643 |
Lathosterolosis |
|
Elevated hepatic transaminase, Toe syndactyly, Cataract, Bilobate gallbladder, Increased mean pla... |
OMIM:607330 |
Cockayne Syndrome Type 3 |
|
Flexion contracture, Microcornea, Lentiglobus, Adult onset sensorineural hearing impairment, Cond... |
ORPHA:90324 |
Acrocallosal Syndrome |
|
Clinodactyly of the 5th finger, Micropenis, Hypopigmentation of the fundus, Finger syndactyly, Hy... |
OMIM:200990 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Hypopl... |
ORPHA:3464 |
Degcags Syndrome |
|
Syndactyly, Sacral dimple, Toe syndactyly, Hypospadias, Craniosynostosis, Micrognathia, Cryptorch... |
OMIM:619488 |
Mullegama-Klein-Martinez Syndrome |
|
Pes planus, Micrognathia, Polydactyly, Scoliosis, Clinodactyly of the 5th finger |
OMIM:301022 |
Dextrocardia |
|
Congenital hip dislocation, Abnormal reproductive system morphology, Abnormal foot morphology, Ab... |
ORPHA:1666 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hyperactivity, Sandal gap, Broad hallux, Aggressive behavior, Cryptorchidism, Obesity, Self-injur... |
OMIM:616078 |
Ciliary Dyskinesia, Primary, 26 |
|
Absent outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615500 |
Mosaic Variegated Aneuploidy Syndrome |
|
Low-set, posteriorly rotated ears, Atrial septal defect, Ambiguous genitalia, Cataract, Corneal o... |
ORPHA:1052 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventri... |
OMIM:614921 |
Meningioma |
|
Back pain, Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypog... |
ORPHA:2495 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Hypoplasia of penis, Cata... |
ORPHA:2510 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Palmoplantar hyperkeratosis,... |
ORPHA:2907 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Tip-toe... |
ORPHA:309256 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Lens coloboma, Microcornea, Clinodactyly of the 5th fing... |
OMIM:619539 |
Loeys-Dietz Syndrome 2 |
|
Syndactyly, Pes planus, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Micrognathia,... |
OMIM:610168 |
Craniofaciofrontodigital Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morp... |
ORPHA:363705 |
Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Astigmatism, Abnormal metacarpal morphology, Conductive hearing impairment, Umbilic... |
ORPHA:2095 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Abn... |
ORPHA:85451 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy, Hand muscle weakn... |
ORPHA:101076 |
Usher Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Ataxia, Abnormal dental enamel morphology, Sensori... |
ORPHA:886 |
Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Pes planus, Talipes, Missing ribs, Short... |
ORPHA:2308 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Abnormal pinna morphology, Hypospadias, Corneal opacity, Cryptor... |
OMIM:219000 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atri... |
OMIM:300855 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... |
ORPHA:263479 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... |
ORPHA:637 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Optic atrophy, EEG abn... |
OMIM:261680 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ataxia, Portal hypertension, Splenomeg... |
OMIM:615688 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity, Delayed peripheral myelination, Hearing impairment, Aplasia of the distal phalan... |
ORPHA:364577 |
Alagille Syndrome 1 |
|
Microcornea, Papillary thyroid carcinoma, Atrial septal defect, Abnormal anterior chamber morphol... |
OMIM:118450 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Abnormal mitochondrial shape, Cataract, Ataxia, Optic atrophy, Gait ataxia, EEG abnormality, Ambi... |
ORPHA:543470 |
Schisis Association |
|
Micromelia |
ORPHA:63862 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Abnormal rib morphology, Narrow chest, Abnormal epiphysis morphology, A... |
ORPHA:667 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Short metatarsal, Triphalangeal thumb, Hypothyroidism, 2-4 finger syndactyly, Hypo... |
OMIM:107480 |
Monosomy 22 |
|
Finger syndactyly, Single transverse palmar crease, Short neck, Clubbing, Clinodactyly of the 5th... |
ORPHA:96123 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Multiple joint contractures, Sensorineural hearing impairment, Vestibular areflexia, Optic atroph... |
ORPHA:504476 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Ataxia, Increased hepatocellular lipid droplets, Sensorineural hearing impairment, ... |
OMIM:220110 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Atrial septal defect, Hyperactivity, Failure to thrive, Retinal dystrophy, Posteriorly rotated ea... |
OMIM:619512 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Overlapping toe, Flexion contracture, Optic atrophy, Elbow flexion contracture, ... |
OMIM:617301 |
Fraser Syndrome 2 |
|
Short thorax, Short neck, Cutaneous syndactyly |
OMIM:617666 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Scapular winging, Ataxia, Impulsivity, Optic atrophy, Dep... |
OMIM:614298 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Preaxial hand polydactyly, Short toe, Postaxi... |
ORPHA:2750 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Spl... |
OMIM:615512 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Optic disc pallor, Hepatomegaly, Ataxia, Dilated cardiomyopathy, Left ventricular noncompaction, ... |
OMIM:619167 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Hallux valgus, Thumb contracture, Low-set, posteriorly rotated ears, Bifid scrotum, Retinal dystr... |
ORPHA:324540 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Inability to walk, Flexion contracture, Elevated circulating alanine ... |
ORPHA:365 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Small hand, Leukocoria, Sh... |
ORPHA:2714 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
ORPHA:99949 |
Hutchinson-Gilford Progeria Syndrome |
|
Conductive hearing impairment, Absence of subcutaneous fat, Short clavicles, Shuffling gait, Mitr... |
ORPHA:740 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Abnormal pinna morphology, Optic atrophy, Dystonic gait, EEG abnormality, Astigmatism, Prominent ... |
ORPHA:480898 |
Benign Schwannoma |
|
Abnormal fibula morphology |
ORPHA:252164 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Protruding ear, Microcornea, Keratoconjunctivitis sicc... |
ORPHA:1806 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Pes planus, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Kyphoscoliosis, Thin... |
OMIM:225400 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Corneal opacity, Camptodactyly of finger, Abnormal dental enamel morphology, P... |
ORPHA:2908 |
Wolfram Syndrome |
|
Diabetes mellitus, Ataxia, Abnormal mesentery morphology, Sensorineural hearing impairment, Optic... |
ORPHA:3463 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Multiple joint contractures, Lipoatrophy, Diabetes mellitus, Cardi... |
ORPHA:51 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Failure to thrive, Anis... |
OMIM:618278 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures, Femur fracture |
OMIM:612301 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsiv... |
OMIM:300967 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Crypt... |
OMIM:227650 |
Cerebrooculonasal Syndrome |
|
Craniosynostosis, Postaxial hand polydactyly, Postaxial polydactyly, Hypoplastic male external ge... |
OMIM:605627 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ... |
ORPHA:555874 |
Early Infantile Epileptic Encephalopathy |
|
Hyperactivity, Failure to thrive, Ventricular septal defect, Precocious puberty, EEG with burst s... |
ORPHA:1934 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Joubert Syndrome 8 |
|
Optic disc pallor, Hepatomegaly, Ataxia, Obesity, Pigmentary retinopathy, Prolonged neonatal jaun... |
OMIM:612291 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Ataxia, Premature thelarche, Oral-pharyngeal dysphagia, Sensorineu... |
OMIM:616878 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Inguinal hernia, Ventricular septal defect, Single transverse palmar crease, A... |
OMIM:614947 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Posteriorly rotated ears, Corneal opacity, Aplasia of the distal phala... |
OMIM:608670 |
Dysosteosclerosis |
|
Coarse metaphyseal trabecularization, Ventricular septal defect, Abnormal dental enamel morpholog... |
ORPHA:1782 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
Melas |
|
Hypothyroidism, Hypoparathyroidism, Hypogonadotropic hypogonadism, Ataxia, Dilated cardiomyopathy... |
ORPHA:550 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... |
OMIM:612572 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Ataxia, Anterior cortical c... |
ORPHA:67036 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... |
OMIM:177650 |
De Sanctis-Cacchione Syndrome |
|
Ataxia, Bilateral cryptorchidism, Keratitis, Sensorineural hearing impairment, Axonal degeneratio... |
OMIM:278800 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Atrial septal defect, Clinodactyly of the 5th finger, Conductive hearing i... |
OMIM:607872 |
Behçet Disease |
|
Pericarditis, Cataract, Ataxia, Anorexia, Orchitis, Retrobulbar optic neuritis, Splenomegaly, End... |
ORPHA:117 |
Slc39A8-Cdg |
|
Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Cutaneous syndactyly of to... |
ORPHA:468699 |
Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Optic atrophy, Depression, Progressive gait ataxia, Cholecys... |
ORPHA:309271 |
Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Optic disc pallor, Inguinal hernia, Rocker bottom foot, Akinesia, Acanthocytos... |
OMIM:618947 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Hypoplasia of penis, Toe syndactyly, Abnormality of female external genitalia, Campt... |
ORPHA:920 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Ventricular septal defect, Posteriorly rotated ears, Abnormal pinna morphology, Hypos... |
OMIM:616975 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Cataract, Ataxia, Keratitis, Cryptorchidism, Sensorineural hearing i... |
ORPHA:910 |
Digeorge Syndrome |
|
Sclerocornea, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hepat... |
OMIM:188400 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... |
OMIM:602772 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration... |
OMIM:619991 |
Choreoacanthocytosis |
|
Compulsive behaviors, Loss of ambulation, Decreased amplitude of sensory action potentials, Hepat... |
ORPHA:2388 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Hemolytic anemia, Cataract, Ataxia, Splenomegaly, Jaundice, Inability to walk, Nucl... |
OMIM:608885 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Calcaneovalgus deformity, Pectus carinatum, Webbed penis, Micropenis, Long hallux,... |
ORPHA:261537 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma |
OMIM:129400 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Hypothyroidism, Lens coloboma, Abnormal heart mor... |
ORPHA:42775 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... |
OMIM:616469 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Ventricular septal defect, Small for gestational age, Pericardial effusion, Normochr... |
OMIM:618775 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Thrombocytopenia, Inability to walk, Flexion contracture, Op... |
ORPHA:505248 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Short metacarpal, Short humerus, Cataract, Hearing impairment, Thro... |
ORPHA:508542 |
Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm |
OMIM:613808 |
Bloom Syndrome |
|
Clinodactyly of the 5th finger, Syndactyly, Hand polydactyly |
OMIM:210900 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic at... |
OMIM:610651 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Premature ovarian insufficiency, Hearing impairment, Cachexia, Abs... |
OMIM:610965 |
Bloom Syndrome |
|
Male infertility, Premature ovarian insufficiency, Diabetes mellitus, Micrognathia, Oligozoosperm... |
ORPHA:125 |
Argininemia |
|
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Irritability, Portal ... |
OMIM:207800 |
Friedreich Ataxia |
|
Diabetes mellitus, Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Hypertrophic cardiomyopathy, ... |
OMIM:229300 |
Coffin-Siris Syndrome |
|
Hyperactivity, Ventricular septal defect, Hepatoblastoma, Hypospadias, Aggressive behavior, Crypt... |
ORPHA:1465 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:250790 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Sensorineural hearing impai... |
OMIM:268315 |
Holoprosencephaly |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Abnormality of the spleen, Chorioretinal co... |
ORPHA:2162 |
Elsahy-Waters Syndrome |
|
Pectus excavatum, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Cervical C... |
OMIM:211380 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Cataract, Ataxia, Jaundice, Hepatosplenomegaly, Stomatocytosis, Mac... |
ORPHA:168577 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Abnormal pinna morphology, Band keratopathy, Hypoplasia of the iris, Anterior ... |
OMIM:614195 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Ataxia, Acanthocytosis, Abnormal erythrocyte morphology, Sensorineural hearing impairment, Optic ... |
ORPHA:96180 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Hyperthyroidism, Band keratopathy, Asplenia, Primary adrenal insufficiency, Hepatitis, ... |
OMIM:269200 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Inguinal hernia, Hyperactivity, Ventricular septal defect, Posteriorly rotated ears, Failure to t... |
OMIM:607721 |
Biotinidase Deficiency |
|
Hepatomegaly, Ataxia, Splenomegaly, Sensorineural hearing impairment, Optic atrophy, Conjunctivitis |
OMIM:253260 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Epiphyseal dysplasia, Congenital hip dislocation, Cataract, Splenomegaly, Inability to walk, Opti... |
OMIM:617913 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Chorioretinal hyperpigmentation, Sensorineural hearing impairment,... |
OMIM:618329 |
Lcat Deficiency |
|
Hemolytic anemia, Corneal opacity |
ORPHA:650 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... |
OMIM:600132 |
Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... |
ORPHA:98977 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
Okamoto Syndrome |
|
Prominent metopic ridge, Talipes, Bifid uterus, Hip dysplasia, Polydactyly, Scoliosis |
ORPHA:2729 |
Ciliary Dyskinesia, Primary, 22 |
|
Absent inner and outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615444 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Calcaneovalgus deformity, Pectus carinatum, Webbed penis, Micropenis, Long toe, Sy... |
ORPHA:2152 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Epiphyseal dysplasia, Deep palmar crease, Micromelia, Short neck |
ORPHA:1675 |
Tyrosinemia Type 2 |
|
Palmoplantar keratoderma, Corneal opacity, Ataxia |
ORPHA:28378 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Cataract, Retinal dystrophy, Optic nerve hypoplasia, Cryptorchidism,... |
OMIM:610125 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Decreased circulating cortisol level, Ataxia, Optic atrophy, Palmoplanta... |
OMIM:231550 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Failure to thrive, Hypoplastic right heart,... |
OMIM:617403 |
Alzahrani-Kuwahara Syndrome |
|
Optic disc pallor, Cataract, Ventricular septal defect, Posteriorly rotated ears, Coronary sinus ... |
OMIM:619268 |
Arboleda-Tham Syndrome |
|
Secundum atrial septal defect, Anteverted ears, Bilateral cryptorchidism, Conjunctivitis, Atrial ... |
OMIM:616268 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Optic atrophy, Dysmetria, Knee flexion contracture, Bilateral talipes equinovarus, Rectov... |
OMIM:619708 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... |
OMIM:149730 |
Pagod Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality of the spleen, ... |
ORPHA:991 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hearing impairment, Decreased circulating cortisol level, Anemia, Cardiomegaly |
OMIM:618838 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Patent foramen ... |
ORPHA:439 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Difficulty walking, Hearing impairment |
OMIM:232300 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor... |
ORPHA:3205 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Gapo Syndrome |
|
Keratoconus, Hepatomegaly, Facial palsy, Retinal arteriolar tortuosity, Optic atrophy, Protruding... |
OMIM:230740 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Optic disc pallor, Optic neuropathy, Akinesia, Optic atrophy, Choreoathetosis, Truncal ataxia, Fa... |
OMIM:618249 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Failure to thrive, Ataxia, Segmental peripheral demyelination/remyelination, Sensor... |
ORPHA:255210 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Hyperactivity, Overlapping toe, Posteriorly rotated ears, Hearing impairment, Tapered finger, Hyp... |
OMIM:309590 |
African Trypanosomiasis |
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Choreoathetosis, Conjunctivitis, Iritis, Papilledema, Hepatomegaly, Abnormality of the endocrine ... |
ORPHA:3385 |
Amoebic Keratitis |
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Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... |
ORPHA:67043 |
Retinitis Pigmentosa 43 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... |
OMIM:613810 |
Beckwith-Wiedemann Syndrome |
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Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, Hepatoblastoma, Posteri... |
ORPHA:116 |
Trichorhinophalangeal Syndrome, Type Ii |
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Syndactyly, Short metacarpal, Scapular winging, Single transverse palmar crease, Thoracolumbar sc... |
OMIM:150230 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Left ven... |
ORPHA:308552 |
Isolated Complex I Deficiency |
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Optic disc pallor, Hepatomegaly, Diabetes mellitus, Ataxia, Optic neuropathy, Sensorineural heari... |
ORPHA:2609 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Decreased testicular size, Papilledema, Stenosis of the medullary cavity of the long bones, Devel... |
ORPHA:93325 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bifid scrotum, Calcaneovalgus deformity, Pectus carinatum, Webbed penis, Micropenis, Long hallux,... |
ORPHA:261552 |
Cystinosis, Nephropathic |
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Male infertility, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Oral-pharyngeal ... |
OMIM:219800 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
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Corneal opacity |
OMIM:602400 |
Retinitis Pigmentosa 60 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613983 |
Arima Syndrome |
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Hepatomegaly, Retinal dystrophy, Ataxia, Postaxial hand polydactyly, Optic atrophy, Postaxial foo... |
OMIM:243910 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
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Low-set, posteriorly rotated ears, Inguinal hernia, Overlapping toe, Hypospadias, Proximal placem... |
ORPHA:487796 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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Elevated hepatic transaminase, Failure to thrive, Cataract, Ataxia, Cholangitis, Microvesicular h... |
OMIM:124000 |
Cohen-Gibson Syndrome |
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Cataract, Coxa valga, Hypoplastic iliac wing, Long fingers, Cryptorchidism, Flexion contracture, ... |
OMIM:617561 |
Peroxisome Biogenesis Disorder 1B |
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Hepatomegaly, Sensorineural hearing impairment, Optic atrophy, Epiphyseal stippling, Hepatic fibr... |
OMIM:601539 |
Pseudo-Torch Syndrome 3 |
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Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
Encephalocraniocutaneous Lipomatosis |
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Lipodystrophy, Corneal opacity, Multiple lipomas, Tricuspid valve prolapse, Aortic valve stenosis... |
ORPHA:2396 |
Specc1L-Related Hypertelorism Syndrome |
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Finger syndactyly, Pectus excavatum, Short toe, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:1519 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
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Aniridia, Developmental glaucoma, Corneal opacity |
ORPHA:1064 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomega... |
ORPHA:96191 |
Granular Corneal Dystrophy Type I |
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Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Lacrimoauriculodentodigital Syndrome |
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Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... |
ORPHA:2363 |
Lipodystrophy, Familial Partial, Type 7 |
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Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Orthostatic hy... |
OMIM:606721 |
Craniosynostosis And Dental Anomalies |
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Hallux valgus, Broad hallux, 2-3 toe syndactyly, Clinodactyly, Short phalanx of finger |
OMIM:614188 |
Ciliary Dyskinesia, Primary, 5 |
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Reduced sperm motility |
OMIM:608647 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Corneal opacity, Scarring, Atrophic scars, Palmoplantar keratoderma, Enamel hypoplasia, Failure t... |
ORPHA:79396 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
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Hip contracture, Hypospadias, Optic atrophy, Hypoplastic pubic bone, Cone-shaped epiphyses of the... |
OMIM:210730 |
Dubowitz Syndrome |
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Syndactyly, Pes planus, Sacral dimple, Single transverse palmar crease, Micrognathia, Clinodactyl... |
OMIM:223370 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Hyperactivity, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia,... |
OMIM:610217 |
Leukocyte Adhesion Deficiency Type Ii |
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Limb undergrowth, Overlapping toe, Broad palm |
ORPHA:99843 |
Blau Syndrome |
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Pericarditis, Cataract, Facial palsy, Camptodactyly of finger, Abnormal retinal vascular morpholo... |
ORPHA:90340 |
Proboscis Lateralis |
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Cataract, Ventricular septal defect, External genital hypoplasia, Optic nerve hypoplasia, Corneal... |
ORPHA:141099 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
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Clinodactyly of the 5th finger, Finger syndactyly, Palmoplantar keratoderma, Micrognathia |
ORPHA:1071 |
Oculoectodermal Syndrome |
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Hyperactivity, Supernumerary nipple, Limbal dermoid, Chorioretinal atrophy, Pineal cyst, Microcor... |
OMIM:600268 |
Complete Atrioventricular Septal Defect |
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Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Autoimmune Polyendocrinopathy Type 1 |
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Hypoparathyroidism, Adrenal hyperplasia, Cataract, Primary adrenal insufficiency, Abnormal circul... |
ORPHA:3453 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Absent brainstem auditory responses, Hypochromic microcytic anemia, Vestibular areflexia, Thrombo... |
ORPHA:3240 |
Xq21 Microdeletion Syndrome |
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Decreased response to growth hormone stimulation test, Chorioretinal degeneration, Gait ataxia, C... |
ORPHA:1435 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hemolytic anemia, Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, ... |
OMIM:175780 |
Beckwith-Wiedemann Syndrome |
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Omphalocele, Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Cardiomeg... |
OMIM:130650 |
Rodrigues Blindness |
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Microcornea, Sclerocornea, Protruding ear |
OMIM:268320 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Motor tics, Hyperactivity, Ataxia, Akinesia, Acanthocytosis, Optic atrophy, Phonic tics, Depressi... |
OMIM:234200 |
Hartsfield Syndrome |
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Syndactyly, Ectrodactyly |
OMIM:615465 |
Witteveen-Kolk Syndrome |
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Decreased response to growth hormone stimulation test, Proximal placement of thumb, Congenital di... |
OMIM:613406 |
Optic Nerve Hypoplasia, Bilateral |
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Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Autosomal Dominant Cutis Laxa |
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Inguinal hernia, Corneal opacity, Dilatation of the ventricular cavity, Hip dislocation, Protrudi... |
ORPHA:90348 |
Tuberous Sclerosis Complex |
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Hyperactivity, Retinal astrocytic hamartoma, Impulsivity, Aggressive behavior, Retinal hamartoma,... |
ORPHA:805 |
Pierson Syndrome |
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Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia... |
OMIM:609049 |
Macular Corneal Dystrophy |
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Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Coronary Arterial Fistula |
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Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Kenny-Caffey Syndrome, Type 2 |
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Hypoparathyroidism, Papilledema, Small for gestational age, Developmental cataract, Retinal calci... |
OMIM:127000 |
Generalized Arterial Calcification Of Infancy |
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Choroidal neovascularization, Adrenal calcification, Cardiomegaly, Abnormal retinal artery morpho... |
ORPHA:51608 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Hepatomegaly, Cardiomegaly, Hepatic calcification, Cardiomyopathy, Abnormal myocardium morphology... |
ORPHA:228308 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
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Elevated circulating aspartate aminotransferase concentration, Flexion contracture, Optic atrophy... |
OMIM:613154 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Flexion contracture, Optic atrophy, Genu... |
OMIM:619321 |
Mucoepithelial Dysplasia, Hereditary |
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Cataract, Eosinophilia, Cor pulmonale, Keratoconjunctivitis, Opacification of the corneal stroma,... |
OMIM:158310 |
Dermochondrocorneal Dystrophy |
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Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Abnormality of th... |
OMIM:221800 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Nail-biting, Fasciitis, Orthostatic hypotension due to autonomic dysfunction, Hyperactivity, Impu... |
ORPHA:642 |
Dyskeratosis Congenita, X-Linked |
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Acute myeloid leukemia, Pancytopenia, Cataract, Hypospadias, Ataxia, Phimosis, Cryptorchidism, Op... |
OMIM:305000 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
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Mitral atresia, Optic atrophy, Double outlet right ventricle, Supravalvar pulmonary stenosis, Hyp... |
OMIM:618164 |
Rutherfurd Syndrome |
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Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Leber Congenital Amaurosis 15 |
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Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... |
OMIM:613843 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Cataract, Cardiomegaly, Pericardial effusion, EEG with burst suppression, Increased myocardial gl... |
OMIM:261740 |
Gelatinous Drop-Like Corneal Dystrophy |
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Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
Phace Association |
|
Ventricular septal defect, Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental ... |
OMIM:606519 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Sclerocornea, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Fa... |
OMIM:300952 |
Von Hippel-Lindau Disease |
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Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i... |
ORPHA:892 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Short ear, Hyperactivity, Broad-based gait, Posteriorly rotated ears, Ataxia, Hiatus hernia, Aggr... |
OMIM:614756 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
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Elevated hepatic transaminase, Small scrotum, Diabetes mellitus, External genital hypoplasia, EEG... |
OMIM:614231 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Inguinal hernia, Bicuspid aortic valve, Arachnodactyly, Cardiomegaly, Abnormality iris morphology... |
ORPHA:91387 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Small scrotum, Micropenis, Paroxysmal bursts of laughter, Hyperactivity, Hypospadias, Tapered fin... |
OMIM:309580 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Lumbar hyperlordosis, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Kyphos... |
OMIM:309800 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Cherry red spot of the macula, Inappropriate behavior |
ORPHA:309246 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Kyphoscoliosis, Micrognathia |
OMIM:618820 |
Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... |
ORPHA:79098 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Short n... |
OMIM:601803 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor... |
ORPHA:3427 |
Joubert Syndrome 21 |
|
Ataxia, Splenomegaly, Sensorineural hearing impairment, Optic atrophy, Megalopapilla, Dysphagia, ... |
OMIM:615636 |
Leptospirosis |
|
Papilledema, Hepatomegaly, Pericarditis, Anorexia, Jaundice, Retinal hemorrhage, Hepatitis, Lymph... |
ORPHA:509 |
Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Knobloch Syndrome 1 |
|
Retinal detachment, Optic disc pallor, Ataxia, Band keratopathy, Chorioretinal atrophy, Developme... |
OMIM:267750 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Singleton-Merten Syndrome 1 |
|
Waddling gait, Hypoplastic distal radial epiphyses, Mitral valve calcification, Decreased body we... |
OMIM:182250 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Uterine prolapse, Broad-based gait, Bicuspid aortic valve, Ventricular septal ... |
ORPHA:438213 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Wolfram Syndrome 2 |
|
Diabetes mellitus, Optic neuropathy, Sensorineural hearing impairment, Optic atrophy, Primary ame... |
OMIM:604928 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ... |
OMIM:616959 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ... |
ORPHA:71505 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Cataract, Optic atrophy, Buphthalmos, EEG abnormality, Hypoplasia of the retina,... |
OMIM:253280 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Gout, Hypoplasia of the ute... |
OMIM:137920 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Inguinal hernia, Aganglionic megacolon, Hypospadias, Keratitis, Cryptorchidism, Post... |
OMIM:308205 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma, Tinnitus, Hearing impairment, Cardiomegaly |
ORPHA:79280 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Absent outer dynein arms |
OMIM:244400 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... |
ORPHA:1677 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Fontaine Progeroid Syndrome |
|
Syndactyly, Micrognathia, Deep palmar crease, Absent distal phalanges, Platyspondyly, Scoliosis, ... |
OMIM:612289 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascu... |
ORPHA:91500 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Pituitary growth hormone cell adenoma, Reduced sperm motility |
ORPHA:730 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Syndactyly, Anterior pituitary hypoplasia, Postaxial polydactyly, Patent ductus arteriosus, Broad... |
OMIM:619534 |
Cystic Fibrosis |
|
Male infertility, Clubbing of fingers |
OMIM:219700 |
Noonan Syndrome 1 |
|
Male infertility, Micrognathia, Cryptorchidism, Hypogonadism, Radial deviation of finger, Cubitus... |
OMIM:163950 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega... |
ORPHA:75565 |
Congenital Tracheomalacia |
|
Failure to thrive, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous re... |
ORPHA:95430 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Optic nerve dysplasia, Retinal dysplasia, Opacification of the corneal stroma, Micropenis, Decrea... |
OMIM:615287 |
Pmm2-Cdg |
|
Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concentration, Hype... |
ORPHA:79318 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... |
ORPHA:293978 |
Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Apolipoprotein A-I Deficiency |
|
Opacification of the corneal stroma |
ORPHA:425 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Adrenal hypoplasia, Chorioretinal coloboma, Diabetes ins... |
OMIM:157170 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Metrorrhagia, Anorexia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Weight los... |
ORPHA:520 |