Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Digital Clubbing, Isolated Congenital |
|
Clubbing |
OMIM:119900 |
Tendons, Extensor, Of Fingers, Anomalous Insertion Of |
|
Abnormal finger morphology |
OMIM:187390 |
Trigger Thumb |
|
Abnormal thumb morphology |
OMIM:190410 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Polydactyly, Postaxial, Type A9 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:618219 |
Polydactyly, Postaxial, Type A10 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A |
OMIM:618498 |
Oliver Syndrome |
|
Postaxial hand polydactyly |
OMIM:258200 |
Polydactyly, Postaxial, Type A2 |
|
Postaxial hand polydactyly |
OMIM:602085 |
Polydactyly, Preaxial I |
|
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
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 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
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 |
Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
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 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
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, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
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 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
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 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
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 |
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 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly |
ORPHA:1566 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Preaxial Hallucal Polydactyly |
|
Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... |
OMIM:186350 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
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 |
Scalp Defects And Postaxial Polydactyly |
|
Postaxial polydactyly type A |
OMIM:181250 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Polydactyly, Obesity |
OMIM:615988 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, External genital hypoplasia, Obesity, Hypogonadism, Polydactyly, Micropenis, Brachyda... |
OMIM:615983 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... |
OMIM:617642 |
Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Ectrodactyly-Polydactyly |
|
Split hand, Postaxial hand polydactyly, Split foot |
OMIM:225290 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Short thumb, Postaxial hand polydactyly, Short 5th finger, Short 2nd toe |
OMIM:176305 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Obesity, Renal cyst, Hypogonadism, Polydactyly |
OMIM:615987 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Ring Chromosome Y Syndrome |
|
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... |
ORPHA:261529 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Polydactyly, Postaxial, With Progressive Myopia |
|
Postaxial hand polydactyly |
OMIM:174310 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, External genital hypoplasia, Cryptorchidism, Obesity, Renal cyst, Hypogonadism, Polyd... |
OMIM:615982 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
Morbid Obesity And Spermatogenic Failure |
|
Obesity, Oligozoospermia, Azoospermia, Type II diabetes mellitus, Infertility |
OMIM:615703 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Small for gestational age, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal h... |
ORPHA:294975 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Obesity, Hypogonadism, Polydactyly, Clinodactyly |
OMIM:615984 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Recurrent sinusitis, Immotile sperm |
OMIM:618449 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614840 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
Microphthalmia, Isolated 4 |
|
Absent testis, Postaxial polydactyly |
OMIM:613094 |
Triphalangeal Thumbs With Brachyectrodactyly |
|
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly |
OMIM:190680 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb |
ORPHA:2091 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, External genital hypoplasia, Obesity, Renal cyst, Stage 5 chronic kidney dis... |
OMIM:615993 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Abnormal reproductive... |
ORPHA:65759 |
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 22 |
|
Large for gestational age, Obesity, Postaxial foot polydactyly, Hypogonadism, Polydactyly |
OMIM:617119 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Abnormality of the sense of sm... |
OMIM:146110 |
Biemond Syndrome Type 2 |
|
Hypospadias, Hypogonadotropic hypogonadism, Preaxial polydactyly, Obesity, Hypogonadism, Delayed ... |
ORPHA:141333 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Cryptorchidism, Obesity, Nephrocalcinosis, Short long bone, Brachydactyly |
OMIM:615633 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Hypospadias, Prominent nasal bridge, Shyness, Cryptorchidism, Inc... |
ORPHA:163971 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... |
ORPHA:163976 |
Bardet-Biedl Syndrome 8 |
|
Hypospadias, Hypogonadism, Obesity, Postaxial polydactyly |
OMIM:615985 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Meckel Syndrome, Type 11 |
|
Polydactyly |
OMIM:615397 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Mesoaxial hand polydactyly, Postaxial polydactyly, External genital hypoplas... |
OMIM:615996 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly |
OMIM:213010 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308750 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... |
ORPHA:320391 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... |
OMIM:617927 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Ciliary Dyskinesia, Primary, 46 |
|
Recurrent sinusitis, Reduced sperm motility |
OMIM:619436 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Irregular men... |
OMIM:615986 |
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 |
Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Decreased testicular ... |
OMIM:614858 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... |
ORPHA:1350 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Nasal polyposis, Coiled sperm flagella, Recurrent sinusitis, Short sperm flagella |
OMIM:620197 |
Polydactyly, Postaxial, Type A6 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Broad phalanges of the 5th finger |
OMIM:615226 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Polysyndactyly of hallux |
OMIM:235750 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Obesity, Primary ameno... |
OMIM:610628 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism, Bulbous nose, Obesity |
OMIM:300238 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Syndactyly, Hypospadias, Dysmenorrhea, Small for gestational age, Cryptorchidism, ... |
ORPHA:397590 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Rhinitis, Recurrent sinusit... |
OMIM:614874 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Postaxial h... |
OMIM:615994 |
Orofaciodigital Syndrome Xvii |
|
Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me... |
OMIM:617926 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Cryptorchidism, Hypospadias, Polydactyly, Hypoplastic ischia |
OMIM:616910 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Postaxial hand polydactyly, Hydrometrocolpos, Obesity, Cystic renal dysplasia, Posta... |
OMIM:615989 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
49,Xxxyy Syndrome |
|
Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor... |
ORPHA:261534 |
Ciliary Dyskinesia, Primary, 11 |
|
Recurrent sinusitis, Abnormal central microtubular pair morphology of respiratory motile cilia, C... |
OMIM:612649 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Chronic rhinitis, Absent inner and outer dynein arms |
OMIM:618801 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... |
OMIM:619938 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism, Limited elbow extension, Tapered finger |
OMIM:300706 |
Ciliary Dyskinesia, Primary, 12 |
|
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... |
OMIM:612650 |
Ciliary Dyskinesia, Primary, 26 |
|
Absent outer dynein arms, Rhinitis, Infertility, Recurrent sinusitis, Reduced sperm motility |
OMIM:615500 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility, Recurrent sinusitis, Nasal congestion |
OMIM:300991 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Abnormal external genitalia, Small for gestational age, Upper limb asymmetry, Polydactyly, Decrea... |
ORPHA:231140 |
Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Reduced sperm motility |
OMIM:602271 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Absence of pubertal d... |
OMIM:614837 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
Laurence-Moon Syndrome |
|
Small scrotum, Abnormality of the hand, Obesity, Polydactyly, Micropenis |
OMIM:245800 |
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 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis, Immotile sperm |
OMIM:242670 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Lead Poisoning |
|
Decreased female libido, Small for gestational age, Abnormality of the autonomic nervous system, ... |
ORPHA:330015 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Diabetes mellitus, Hypospadias, External genital hypoplasia, Postaxial polydactyly, O... |
OMIM:605231 |
Bardet-Biedl Syndrome 3 |
|
External genital hypoplasia, Postaxial polydactyly, Renal hypoplasia, Obesity, Brachydactyly |
OMIM:600151 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... |
ORPHA:1916 |
Senior-Loken Syndrome 9 |
|
Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephr... |
OMIM:616629 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Cryptorchidism, Anosmia, Primary amenorrhea, Decrease... |
OMIM:614897 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Anteverted nares, Testicular atrophy |
OMIM:601163 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Bulbous nose, Obesity |
ORPHA:85286 |
Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Foot polydactyly |
ORPHA:2155 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Ciliary Dyskinesia, Primary, 22 |
|
Nasal polyposis, Absent inner and outer dynein arms, Rhinitis, Infertility, Recurrent sinusitis, ... |
OMIM:615444 |
Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Ciliary Dyskinesia, Primary, 15 |
|
Nasal polyposis, Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotil... |
OMIM:613808 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... |
ORPHA:2756 |
Nephronophthisis 15 |
|
Polydactyly, Obesity, Nephronophthisis |
OMIM:614845 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Failure to thrive, Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... |
OMIM:616030 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Decreased serum testosterone concentration, ... |
OMIM:305400 |
Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmi... |
OMIM:614841 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Facial diplegia, Testicular atrophy, Cholelithiasis |
OMIM:160900 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Nasal congestion, Optic disc pallor, Reduced sperm motility |
OMIM:615434 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms, Chronic rhinitis, Recurrent sinusitis |
OMIM:612444 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent sinusitis, Nasal polyposis, Chronic rhinitis, Reduced sperm motility |
OMIM:608647 |
Joubert Syndrome 20 |
|
4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
Joubert Syndrome 37 |
|
Postaxial polydactyly, Cryptorchidism, Obesity, Hydronephrosis, Micropenis, Decreased testicular ... |
OMIM:619185 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
Suleiman-El-Hattab Syndrome |
|
Single transverse palmar crease, Cryptorchidism, Polydactyly, Clinodactyly, Failure to thrive, Hy... |
OMIM:618950 |
48,Xxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Depressed nasal ridge, Obesity, Azoospermia, ... |
ORPHA:96263 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short finger, Short ti... |
OMIM:258860 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Diabetes mellitus, Small for gestational age, Broad nasal tip, Prominent nose, Oligozoospermia, C... |
OMIM:614813 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Overlapping toe, Postaxial polydactyly, Unilateral renal agenesis, P... |
OMIM:618142 |
Gapo Syndrome |
|
Anteverted nares, Dysmenorrhea, Depressed nasal bridge, Choanal atresia, Optic atrophy, Oligozoos... |
ORPHA:2067 |
Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... |
ORPHA:85450 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Hypopituitarism, Anterior pituitary hypoplasia, Postaxial polydactyl... |
OMIM:615849 |
Hypomelia With Mullerian Duct Anomalies |
|
Postaxial hand polydactyly, Split hand |
OMIM:146160 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Nasal polyposis, Absent inner and outer dynein arms, Rhinitis, Recurrent sinusitis |
OMIM:614935 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Joubert Syndrome 15 |
|
Ambiguous genitalia, Micropenis, Preaxial polydactyly, Nephronophthisis |
OMIM:614464 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
Myotonic Dystrophy 2 |
|
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... |
OMIM:602668 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:607361 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Clinodactyly |
OMIM:607131 |
9Q21.13 Microdeletion Syndrome |
|
Cryptorchidism, Hip dysplasia, Polydactyly, Hydronephrosis |
ORPHA:531151 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Meckel Syndrome, Type 8 |
|
Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, Ambiguous genitalia, Enlarged kidney |
OMIM:613885 |
Classic Galactosemia |
|
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... |
ORPHA:79239 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Hypospadias, Micromeli... |
OMIM:614091 |
Bardet-Biedl Syndrome 20 |
|
Proteinuria, Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe... |
OMIM:619471 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Cryptorchidism, Failure to thrive, Proximal renal tubular acidosis, Postaxial polydactyly |
OMIM:615824 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Single transverse palmar crease, Micromelia, Adrenal hypoplasia, Preaxial polydact... |
OMIM:612651 |
Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Hypospadias, Postaxial polydactyly, Postaxial hand polydactyly, Rena... |
OMIM:614175 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Limited mobility of proxi... |
OMIM:222300 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Preaxial polydactyly |
ORPHA:64754 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Sho... |
OMIM:615503 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Weight loss, Infertility, Erect... |
ORPHA:465508 |
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 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Decreased serum insulin-like growth factor 1, Long nose, Elevated circulating gro... |
ORPHA:85327 |
Joubert Syndrome 10 |
|
Postaxial polydactyly |
OMIM:300804 |
Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Small for gestational age, Overlapping toe, Postaxial polydactyly, Tapered finger, Cryptorchidism |
OMIM:613792 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Diabetes mellitus, Postaxial polydactyly, Nephrogenic diabetes insipidus, Postaxial h... |
OMIM:209900 |
Joubert Syndrome 16 |
|
Polydactyly |
OMIM:614465 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Joubert Syndrome 18 |
|
Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Talipes equinovarus, Camptodactyly |
OMIM:614815 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Failure to thrive in infancy, Polydactyly, Decreased body weight, Clinodactyly... |
ORPHA:313781 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Broad distal phalanx of finger, Hypospadias, Sandal gap, Postaxial polydactyly |
OMIM:615761 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Abnormal social behavior, Depressed nasal bridge, Obesity |
ORPHA:444002 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Short metatarsa... |
ORPHA:1772 |
Carney Complex |
|
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abn... |
ORPHA:1359 |
Primary Ciliary Dyskinesia |
|
Male infertility, Nasal polyposis, Female infertility, Nasal congestion, Chronic rhinitis, Abnorm... |
ORPHA:244 |
3Mc Syndrome 3 |
|
Bifid scrotum, Cryptorchidism, Preaxial polydactyly, Horseshoe kidney, Micropenis, Radioulnar syn... |
OMIM:248340 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Phocomelia, Split hand, Foot polydactyly |
ORPHA:3004 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Polydactyly |
OMIM:602501 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxial polydactyly, Ren... |
OMIM:616300 |
Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Small for gestational age, Absent thumb, Absent... |
OMIM:227650 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ... |
OMIM:617866 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Bloom Syndrome |
|
Male infertility, Premature ovarian insufficiency, Diabetes mellitus, Small for gestational age, ... |
ORPHA:125 |
Macrodactyly |
|
Macrodactyly |
OMIM:155500 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly of the 5th finge... |
OMIM:619721 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Bilateral cryptorchidism, Central Y-shaped metacarpal, Preaxia... |
ORPHA:2754 |
Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Ambigu... |
OMIM:617895 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Hypospadias, Postaxial polydactyly |
ORPHA:544254 |
Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... |
OMIM:311900 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial palsy, Primary amenorrhea... |
OMIM:157640 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
Pelger-Huet Anomaly |
|
Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Failure to thrive, Short 4th metacarpa... |
OMIM:169400 |
Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
Joubert Syndrome 7 |
|
Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Renal cyst, Ge... |
OMIM:611560 |
Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Polydactyly, Postaxial hand polydactyly |
OMIM:603194 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Cryptorchidism, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad dist... |
ORPHA:404440 |
Miller-Dieker Lissencephaly Syndrome |
|
Failure to thrive, Single transverse palmar crease, Cryptorchidism, Deep palmar crease, Polydacty... |
OMIM:247200 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Mend Syndrome |
|
Overlapping toe, Broad hallux, Long fingers, Cryptorchidism, 2-3 toe syndactyly, Polydactyly, Ove... |
OMIM:300960 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Hypospadias, Anterior pituitary hypoplasia, Small ... |
ORPHA:464306 |
Tarp Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Cr... |
ORPHA:2886 |
Hsd10 Disease |
|
Abnormal social behavior, Optic atrophy |
ORPHA:391417 |
Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
Otopalatodigital Syndrome Type 2 |
|
Bowing of the long bones, Hypospadias, Tarsal synostosis, Short hallux, Camptodactyly of finger, ... |
ORPHA:90652 |
Fg Syndrome Type 1 |
|
Hypospadias, Optic nerve hypoplasia, Choanal atresia, Prominent nose, Cryptorchidism, Small pitui... |
ORPHA:93932 |
Lesch-Nyhan Syndrome |
|
Hip dislocation, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Testicular atrophy |
OMIM:300322 |
Orofaciodigital Syndrome V |
|
Unilateral cryptorchidism, Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Horsesh... |
OMIM:174300 |
Orofaciodigital Syndrome Vi |
|
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Pr... |
OMIM:277170 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Nasal polyposis, Absent outer dynein arms, Anosmia, Chronic rhinitis |
OMIM:244400 |
3P25.3 Microdeletion Syndrome |
|
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly... |
ORPHA:435638 |
Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Upper lim... |
OMIM:607323 |
Hogue-Janssen Syndrome 2 |
|
Deviation of the 5th finger, Hip dysplasia, Broad hallux, Postaxial polydactyly |
OMIM:616362 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia,... |
OMIM:603671 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Ectopic kidney, Dermatoglyphic ridges abnormal, Hashimoto thyroiditis, Short 5th metacarpal, Hype... |
ORPHA:99413 |
Turner Syndrome |
|
Ectopic kidney, Dermatoglyphic ridges abnormal, Hashimoto thyroiditis, Short 5th metacarpal, Hype... |
ORPHA:881 |
Mosaic Monosomy X |
|
Ectopic kidney, Dermatoglyphic ridges abnormal, Hashimoto thyroiditis, Short 5th metacarpal, Hype... |
ORPHA:99228 |
Monosomy X |
|
Ectopic kidney, Dermatoglyphic ridges abnormal, Hashimoto thyroiditis, Short 5th metacarpal, Hype... |
ORPHA:99226 |
Rhombencephalosynapsis |
|
Finger syndactyly, Polydactyly, Abnormality of the uterus, Complete duplication of thumb phalanx,... |
ORPHA:59315 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... |
ORPHA:221120 |
Mend Syndrome |
|
Failure to thrive, Prominent nasal bridge, Abnormal auditory evoked potentials, Cryptorchidism, A... |
ORPHA:401973 |
Adnp Syndrome |
|
Broad hallux, Single transverse palmar crease, Sandal gap, Urinary incontinence, Abnormal toe mor... |
ORPHA:404448 |
Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Anteverted nares, Hypogonadotropic hypogonadism, External genital hypoplasia... |
ORPHA:177907 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Large for gestational age, Ectopic kidney, Gonadotropin defici... |
ORPHA:672 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... |
OMIM:210710 |
Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia... |
OMIM:619879 |
Tetrasomy 9P |
|
Absent gallbladder, Cryptorchidism, Bulbous nose, Polymicrogyria, Oligozoospermia, Inappropriate ... |
ORPHA:3310 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Pancreatic cysts, Stage 5 chronic kidney disease, Polydactyly, Nephron... |
OMIM:616307 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Renal insufficiency, Abnormal acetabulum morphology, Hypospadias, Postaxial polydactyly, Supernum... |
ORPHA:397715 |
X-Linked Intellectual Disability, Snyder Type |
|
Anteverted nares, Hypospadias, Prominent nasal bridge, Cryptorchidism, Bulbous nose, Abnormality ... |
ORPHA:3063 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, Bilateral cryptorchidism, Preaxial polydactyly, Coxa vara, Cutan... |
OMIM:614976 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Hypospadias, Decreased response to growth hormone stimulation test, Premature thel... |
ORPHA:268261 |
Au-Kline Syndrome |
|
Overlapping toe, Postaxial polydactyly, Coxa valga, Supernumerary nipple, Cryptorchidism, Chronic... |
OMIM:616580 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Female hypogonadism, Single transverse palm... |
OMIM:607932 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Postaxial polydactyly, Hip dysplasia, Proximal tubulopathy, Failure to... |
OMIM:614576 |
Helsmoortel-Van Der Aa Syndrome |
|
Broad hallux, Sandal gap, Decreased response to growth hormone stimulation test, Tapered finger, ... |
OMIM:615873 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ... |
OMIM:302960 |
Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Premature thelarche, Bilateral cryptorchidism, Papillary cystade... |
OMIM:180849 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Postaxial polydactyly, Septate vagina, Preaxial polydactyly, Hypoplastic pubi... |
OMIM:617925 |
Meckel Syndrome, Type 1 |
|
Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly, External ge... |
OMIM:249000 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Small for gestational age, Hypospadias, Prominent nasal bridge, Testicular neoplasm, Underdevelop... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Small for gestational age, Hypospadias, Prominent nasal bridge, Testicular neoplasm, Underdevelop... |
ORPHA:363958 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty, Preaxial polydactyly, Obesity |
ORPHA:163681 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Pituitary growth hormone cell adenoma, Reduced sperm motility |
ORPHA:730 |
Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Enlarged ovaries, Precocious puberty, Insulin-resistant diabetes mellitu... |
ORPHA:769 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... |
OMIM:137920 |
Lamb-Shaffer Syndrome |
|
Abnormal social behavior, Optic atrophy, Broad nasal tip |
ORPHA:530983 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Brachydactyly |
OMIM:614099 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Abnormality of thyroid physiology, Postaxial polydactyly, Tapered finger, Small hand, Hip disloca... |
OMIM:300968 |
Kinsship Syndrome |
|
Single transverse palmar crease, Coxa valga, Hip dislocation, Renal hypoplasia, Fibular hypoplasi... |
OMIM:619297 |
Joubert Syndrome 39 |
|
Overweight, Polycystic kidney dysplasia, Joint contracture of the 5th finger, Postaxial polydactyly |
OMIM:619562 |
Choanal Atresia |
|
Polydactyly |
ORPHA:137914 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Long fingers, Congeni... |
OMIM:617527 |
Basal Cell Nevus Syndrome 1 |
|
Ovarian fibroma, Down-sloping shoulders, Palmar pits, Irregular ossification of hand bones, Polyd... |
OMIM:109400 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Abnormal mitochondrial shape, Short femur, Hypospadias, Methylmalonic aciduria, 3-... |
ORPHA:17 |
Cystinosis, Nephropathic |
|
Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Ma... |
OMIM:219800 |
Orofaciodigital Syndrome I |
|
Syndactyly, Proteinuria, Pancreatic cysts, Short 2nd toe, Ovarian cyst, Polydactyly, Radial devia... |
OMIM:311200 |
Degcags Syndrome |
|
Syndactyly, Toe syndactyly, Hypospadias, Small for gestational age, Abnormal renal medulla morpho... |
OMIM:619488 |
Vater/Vacterl Association |
|
Syndactyly, Hypospadias, Ectopic kidney, Absent radius, Short thumb, Hypoplasia of the radius, Pr... |
OMIM:192350 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, Polycystic kidney dys... |
OMIM:616546 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Syndactyly, Broad hallux, Deviation of the hallux, Hypospadias, Avascular necrosis of the capital... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Syndactyly, Broad hallux, Deviation of the hallux, Hypospadias, Avascular necrosis of the capital... |
ORPHA:353277 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Postaxial polydactyly |
OMIM:603387 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Hip dysplasia, Aplasia of the vag... |
ORPHA:457284 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Postaxial polydactyly, Renal hypoplasia, Renal cyst, Vesicoureteral reflux,... |
OMIM:618460 |
Congenital Sialidosis Type 2 |
|
Polydactyly |
ORPHA:93400 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly |
ORPHA:314655 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Postaxial hand polydactyly, Hydrometrocolpos, Horseshoe kidney, Cone-shape... |
OMIM:617088 |
Stromme Syndrome |
|
Stillbirth, Preaxial polydactyly, Hydronephrosis, Bilateral renal hypoplasia |
OMIM:243605 |
Joubert Syndrome 14 |
|
Renal cyst, Postaxial polydactyly |
OMIM:614424 |
Ventriculomegaly With Cystic Kidney Disease |
|
Postaxial polydactyly |
OMIM:219730 |
Monosomy 9Q22.3 |
|
Palmar pits, Ovarian fibroma, Polydactyly, Large for gestational age |
ORPHA:77301 |
Cystic Fibrosis |
|
Male infertility, Failure to thrive, Nasal polyposis |
OMIM:219700 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Renal cyst, Narrow greater sciatic notch, Short palm, Hypospadias, Cryptorchidism, Short greater ... |
OMIM:312870 |
Legius Syndrome |
|
Nephrolithiasis, Ovarian neoplasm, Diaphyseal dysplasia, Polydactyly, Male urethral meatus stenos... |
ORPHA:137605 |
Noonan Syndrome 1 |
|
Male infertility, Hypospadias, Failure to thrive in infancy, Cryptorchidism, Hypogonadism, Radial... |
OMIM:163950 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Broad hallux, Absence of Stensen duct, Aplasia of the parotid gland, Abse... |
OMIM:149730 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Postaxial polydactyly, Supernumerary nipple, Cryptorchidism, Hip dysplasia, Talipes equinovarus, ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Postaxial polydactyly, Supernumerary nipple, Cryptorchidism, Hip dysplasia, Talipes equinovarus, ... |
ORPHA:352665 |
Cranioectodermal Dysplasia 2 |
|
Syndactyly, Renal insufficiency, Rhizomelia, Postaxial hand polydactyly, Renal cyst, Polydactyly,... |
OMIM:613610 |
Orofaciodigital Syndrome Xiv |
|
Broad hallux, Cryptorchidism, Postaxial hand polydactyly, Epispadias, Preaxial polydactyly, Unila... |
OMIM:615948 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Small for gestational age, Polydactyly, Vesicoureteral reflux, Failure to thrive |
OMIM:619869 |
Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Postaxial polydactyly, Hypoplastic male external genitalia |
OMIM:605627 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Optic atrophy, Neoplasm of the gallbladder, Abnormal social ... |
ORPHA:309271 |
Faciocardiomelic Syndrome |
|
Slender long bone, Polydactyly, Hypoplastic pelvis |
OMIM:612731 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Abnormal social behavior, Optic atrophy |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Abnormal social behavior, Optic atrophy |
ORPHA:309263 |
Okamoto Syndrome |
|
Urinary incontinence, Bifid uterus, Unilateral renal hypoplasia, Hip dysplasia, Polydactyly, Uret... |
ORPHA:2729 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hallux valgus, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, Tapered finger... |
ORPHA:480880 |
Williams Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Failure to thrive in infancy, Precocious pube... |
ORPHA:904 |
Mullegama-Klein-Martinez Syndrome |
|
Clinodactyly of the 5th finger, Failure to thrive, Polydactyly |
OMIM:301022 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Syndactyly, Renal insufficiency, Anterior pituitary hypoplasia, Postaxial polydactyly... |
OMIM:619534 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Prominent nasal tip, Depressed nasal bridge, Abnormal social behavior, Anteverted nares |
ORPHA:1675 |
Childhood Absence Epilepsy |
|
Abnormal social behavior |
ORPHA:64280 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Wide nose, Anteverted nares, Abnormal cortical gyration, Bulbous nose, Abnormal social behavior |
ORPHA:314647 |
Loeys-Dietz Syndrome 2 |
|
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Absent distal phalanges, ... |
OMIM:610168 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Abnormal social behavior |
ORPHA:1020 |
Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Pheochromocytoma, Parathy... |
ORPHA:805 |
Niemann-Pick Disease Type C |
|
Abnormal social behavior |
ORPHA:646 |