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 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility, Lack of oocyte pronucleus formation |
OMIM:617996 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
Distal Symphalangism |
|
Camptodactyly of finger, Synostosis of carpal bones, Joint stiffness, Symphalangism affecting the... |
ORPHA:3248 |
Radial Hemimelia |
|
Abnormality of the trapezium, Abnormality of the scaphoid, Aplasia of the 1st metacarpal, Abnorma... |
ORPHA:93321 |
Liebenberg Syndrome |
|
2-3 finger syndactyly, Metaphyseal widening, Joint contracture of the 5th finger, Abnormal carpal... |
OMIM:186550 |
Oocyte/Zygote/Embryo Maturation Arrest 16 |
|
Infertility |
OMIM:617234 |
Spermatogenic Failure 3 |
|
Reduced sperm motility, Male infertility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Reduced sperm motility, Male infertility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Reduced sperm motility, Male infertility |
OMIM:619380 |
Acropectorovertebral Dysplasia |
|
Short thumb, Capitate-hamate fusion, Finger syndactyly, Synostosis of carpal bones, Toe syndactyl... |
OMIM:102510 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Proximal symphalangism, Finger symphalangism, Carpal synostosis, Humeroradial s... |
OMIM:610017 |
Synpolydactyly 2 |
|
Polydactyly, Metatarsal synostosis, Toe syndactyly, Carpal synostosis, Metacarpal synostosis, Tar... |
OMIM:608180 |
Syndactyly, Type V |
|
Short distal phalanx of finger, Camptodactyly of finger, Absent distal interphalangeal creases, 4... |
OMIM:186300 |
Radioulnar Synostosis, Nonsyndromic, Susceptibility To |
|
Radioulnar synostosis, Limited pronation/supination of forearm |
OMIM:179300 |
Banki Syndrome |
|
Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal morphology, Clinodactyly of the 5t... |
ORPHA:1228 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Symphalangism, C. S. Lewis Type |
|
Synostosis involving the 1st metacarpal |
OMIM:185650 |
Humeroradial Synostosis |
|
Humeroradial synostosis |
OMIM:143050 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella |
OMIM:617593 |
Arthrogryposis, Distal, Type 11 |
|
Camptodactyly, Limited pronation/supination of forearm, Calcaneovalgus deformity, Rocker bottom f... |
OMIM:620019 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619878 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
Osebold-Remondini Syndrome |
|
Type A brachydactyly, Decreased finger mobility, Hypoplasia of the radius, Broad toe, Short tibia... |
OMIM:112910 |
Tarsal-Carpal Coalition Syndrome |
|
Short finger, Proximal symphalangism of hands, Distal symphalangism of hands, Carpal synostosis, ... |
OMIM:186570 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Syndactyly Type 5 |
|
Short distal phalanx of finger, Camptodactyly of finger, 3-4 finger syndactyly, Ulnar deviation o... |
ORPHA:93406 |
Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618341 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Female infertility, Abnormal spermatogenesis, Oocyte arrest at metaphase I |
ORPHA:488191 |
Spermatogenic Failure 1 |
|
Male infertility, Oligospermia, Cryptozoospermia |
OMIM:258150 |
Craniosynostosis, Adelaide Type |
|
Craniosynostosis, Hallux valgus, Carpal bone malsegmentation, Shortening of all distal phalanges ... |
OMIM:600593 |
Symbrachydactyly Of Hands And Feet |
|
Abnormality of the humerus, Scoliosis, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia o... |
ORPHA:1570 |
Polydactyly, Postaxial, Type A5 |
|
Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis |
OMIM:263450 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
Symphalangism, Proximal, 1B |
|
Abnormal finger flexion crease, Proximal/middle symphalangism of 5th finger, Clinodactyly of the ... |
OMIM:615298 |
Spermatogenic Failure 5 |
|
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility |
OMIM:243060 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617187 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:617592 |
Proximal Symphalangism |
|
Elbow ankylosis, Camptodactyly of finger, Proximal symphalangism, Abnormality of the wrist, Synos... |
ORPHA:3250 |
Vertical Talus, Congenital |
|
Calcaneovalgus deformity, Equinus calcaneus, Rocker bottom foot |
OMIM:192950 |
Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:620196 |
Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:612997 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Short thumb, Finger syndactyly, Synostosis of carpal bones, Aplasia/Hypoplasia of the hallux, Toe... |
ORPHA:157801 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility |
OMIM:615081 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Acromesomelic Dysplasia 2C |
|
Single transverse palmar crease, Distal femoral bowing, Hip dislocation, Short thumb, Hypoplasia ... |
OMIM:201250 |
Spermatogenic Failure 46 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:619095 |
Partial Chromosome Y Deletion |
|
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... |
ORPHA:1646 |
Spermatogenic Failure 33 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:617576 |
Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:617965 |
Spermatogenic Failure 48 |
|
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility |
OMIM:619108 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed ossification of carpal bones, Delayed epiphyseal ossification, Short middle phalanx of fi... |
OMIM:182255 |
Symphalangism, Proximal, 1A |
|
Proximal symphalangism of hands, Distal symphalangism of hands, Carpal synostosis, Metacarpophala... |
OMIM:185800 |
Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... |
ORPHA:3269 |
Premature Ovarian Failure 2B |
|
Female infertility, Premature ovarian insufficiency, Primary amenorrhea |
OMIM:300604 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618153 |
Isochromosomy Yp |
|
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Male ... |
ORPHA:98797 |
Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia |
OMIM:619102 |
Metaphyseal Anadysplasia |
|
Abnormal metaphysis morphology, Bowing of the long bones, Abnormal epiphysis morphology, Abnormal... |
ORPHA:1040 |
Ulnar Hemimelia |
|
Scoliosis, Abnormal calcification of the carpal bones, Aplasia of metacarpal bones, Abnormality o... |
ORPHA:93320 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Cryptorchidism, Cryptozoospermia, Azoospermia, Male infertility |
OMIM:618110 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Genu varum, Flat acetabular roof, Advanced ossification of carpal bones, Vertebral wedging, Monke... |
OMIM:617719 |
Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Synostoses, Tarsal, Carpal, And Digital |
|
Short metacarpal, Metacarpophalangeal synostosis, Carpal synostosis, Radial head subluxation, Apl... |
OMIM:186400 |
Multiple Synostoses Syndrome 3 |
|
Metatarsal synostosis, Hallux varus, Broad thumb, Humeroradial synostosis, Cubitus valgus, Limite... |
OMIM:612961 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... |
OMIM:617960 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619528 |
Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:619828 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Dumbbell-shaped humerus, Abnormality of the humerus, Abnormality of fibu... |
ORPHA:1836 |
Brachydactyly Type B2 |
|
Short distal phalanx of finger, Finger syndactyly, Synostosis of carpal bones, Short toe, Short d... |
ORPHA:140908 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... |
OMIM:619585 |
Hyperprolactinemia |
|
Oligomenorrhea, Female infertility, Menorrhagia |
OMIM:615555 |
Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... |
OMIM:620084 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Abnormal distal phalanx morphology of finger, Abnormality of the humerus, Joint stiffness, Synost... |
ORPHA:1275 |
Leri-Weill Dyschondrosteosis |
|
Abnormality of the humerus, Abnormal metatarsal morphology, Increased carrying angle, Abnormal ca... |
OMIM:127300 |
Ulnar Hypoplasia |
|
Radial dysplasia, Ulnar deviation of the hand, Mesomelic arm shortening, Hypoplasia of the ulna, ... |
OMIM:191440 |
Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Primary amenorrhea, Elevated circulating folli... |
OMIM:609441 |
Spermatogenic Failure 50 |
|
Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male infertility |
OMIM:619145 |
Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility |
OMIM:619696 |
Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Brachydactyly Type B |
|
Short distal phalanx of finger, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Syno... |
ORPHA:93383 |
Brachydactyly Type A1 |
|
Short thumb, Broad metacarpals, Distal symphalangism of hands, Short middle phalanx of finger, Sh... |
ORPHA:93388 |
Spermatogenic Failure 41 |
|
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia |
OMIM:618670 |
Isochromosomy Yq |
|
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Varicocele, Azoosp... |
ORPHA:98798 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
Spermatogenic Failure, X-Linked, 3 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... |
OMIM:301059 |
Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Abnormal metacarpal morphology, Synostosis of carpals/tarsals |
OMIM:269630 |
Metacarpal 4-5 Fusion |
|
4-5 metacarpal synostosis, Short 5th metacarpal, 2-3 toe cutaneous syndactyly, Clinodactyly of th... |
OMIM:309630 |
Brachydactyly, Type B2 |
|
Short distal phalanx of finger, Absent phalangeal crease, Aplasia/Hypoplasia of the distal phalan... |
OMIM:611377 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility |
OMIM:619689 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Male hypogonadism, Azoospermia, Syndactyly |
OMIM:241000 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:619515 |
Langer Mesomelic Dysplasia |
|
Ulnar deviation of finger, Aplasia/Hypoplasia of the fibula, Abnormal carpal morphology, Mesomeli... |
ORPHA:2632 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Short distal phalanx of hallux, Small thenar eminence, Aplasia/Hypoplasia of the distal phalanx o... |
ORPHA:3246 |
Congenital Vertical Talus |
|
Pes planus, Pes valgus, Rocker bottom foot, Lower extremity joint dislocation, Achilles tendon co... |
ORPHA:178382 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Tarsal synostosis, Radial bowing |
OMIM:156232 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... |
OMIM:618745 |
Leydig Cell Hypoplasia |
|
Primary amenorrhea, Ambiguous genitalia, Abnormal internal genitalia, Testicular gonadoblastoma, ... |
ORPHA:755 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Hypogonadism, Short neck, Abnormal metacarpal morphology, Decreased fertility, Abnormal morpholog... |
ORPHA:2233 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:619712 |
Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Oligospermia, Abnormal sperm mid... |
ORPHA:529970 |
Spermatogenic Failure 39 |
|
Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit... |
OMIM:618643 |
Digitotalar Dysmorphism |
|
Camptodactyly of finger, Ulnar deviation of finger, Rocker bottom foot |
OMIM:126050 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Radial head subluxation, Fibul... |
ORPHA:2634 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the radius, Short tibia, Mesomelia, Micrognathia, Short femoral neck, Madelung defo... |
OMIM:249700 |
Androgen Insensitivity, Partial |
|
Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Abnormal rib cage morphology, Inf... |
OMIM:312300 |
Ulnar Hypoplasia With Mental Retardation |
|
Limited elbow movement, Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus |
OMIM:276821 |
Acromesomelic Dysplasia 2A |
|
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Pes valgus, Acro... |
OMIM:200700 |
Ring Chromosome 4 Syndrome |
|
Abnormal morphology of ulna, Abnormality of the upper limb, Split hand, Aplasia/Hypoplasia of the... |
ORPHA:1447 |
Ulnar Hypoplasia-Split Foot Syndrome |
|
Split foot, Split hand, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius |
ORPHA:1122 |
Spermatogenic Failure 54 |
|
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... |
OMIM:619379 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of the humerus, Short tibia, Micromelia, Madelung deformity, Dorsal subluxation of ul... |
ORPHA:240 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormality of femur morphology, Abnormal morphology of female internal genitalia, Aplasia/Hypopl... |
ORPHA:2141 |
Arms, Malformation Of |
|
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna |
OMIM:107900 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Limited elbow extension, Lumbar hyperlordosis, Short metatarsal, Capitate-hamate fusion, Short me... |
OMIM:271650 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Ulnar deviation of finger, Mesomelia, Delayed cranial suture closure, Micromelia, Broad thumb, Ta... |
ORPHA:2249 |
Chromosome 2Q35 Duplication Syndrome |
|
3-4 finger syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 2-3 toe syndactyly, S... |
OMIM:185900 |
Caudal Appendage-Deafness Syndrome |
|
Cryptorchidism, Abnormal digit morphology, Caudal appendage |
ORPHA:1123 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of patellae, Osteolysis of scaphoids, Osteolysis of talus, Short 4th metacarpal, Enlar... |
ORPHA:50809 |
Heart-Hand Syndrome Type 2 |
|
Cryptorchidism, Abnormality of the humerus, Hand polydactyly, Joint stiffness, Aplasia/Hypoplasia... |
ORPHA:1350 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Abnormal joint morphology, Abnormal metaphysis morphology, Short metatarsal, Osteoporosis, Short ... |
ORPHA:93351 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand... |
ORPHA:3104 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Bilateral single transverse palmar creases, Aplasia/Hypoplasia of the fibula, Abnormal thumb morp... |
ORPHA:2639 |
Upper Limb Mesomelic Dysplasia |
|
Ulnar deviation of finger, Hypoplasia of the ulna, Radial bowing |
ORPHA:2497 |
Lethal Faciocardiomelic Dysplasia |
|
Radial club hand, Short thumb, Hypoplasia of the radius, Short tibia, Microretrognathia, Short 5t... |
ORPHA:1972 |
Postaxial Oligodactyly, Tetramelic |
|
Postaxial oligodactyly, Postaxial foot polydactyly, Absent fifth metatarsal, Radial bowing, Lunat... |
OMIM:176240 |
Mental Retardation Syndrome, Mietens-Weber Type |
|
Forearm undergrowth, Dislocated radial head, Absent proximal radial epiphyses, Pes planus, Elbow ... |
OMIM:249600 |
Steel Syndrome |
|
Limited elbow extension, Scoliosis, Hip dislocation, Lumbar hyperlordosis, Dislocated radial head... |
OMIM:615155 |
Brachydactyly Type A7 |
|
Medially deviated second toe, Broad distal phalanx of the thumb, Hallux valgus, Short middle phal... |
ORPHA:93397 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of patellae, Osteolysis of scaphoids, Short 4th metacarpal, Osteolysis of talus, Synov... |
OMIM:609655 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Joint stiffness, Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abn... |
ORPHA:2064 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Uterus didelphys, Short humerus, Abnormality of the wrist, Abnormality of the elbow, Hypoplasia o... |
ORPHA:2491 |
Brachydactyly, Type C |
|
Ulnar deviation of the 3rd finger, Enlarged epiphysis of the proximal phalanx of the 2nd finger, ... |
OMIM:113100 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Cryptorchidism, Micropenis, Short tibia, Short femur, Hypoplasia of the ulna, Fibular hypoplasia,... |
OMIM:612447 |
Boomerang Dysplasia |
|
Cryptorchidism, Abnormality of the humerus, Abnormal morphology of ulna, Aplasia/Hypoplasia of th... |
ORPHA:1263 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad long bones, Broad femoral head, Broad radial metaphysis, Sclerosis of middle finger phalanx... |
ORPHA:85188 |
Deafness-Infertility Syndrome |
|
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... |
OMIM:611102 |
Paternal Uniparental Disomy Of Chromosome X |
|
Decreased testicular size, Micropenis, Short neck, Short metacarpal, Shield chest, Infertility, C... |
ORPHA:261524 |
Pseudoachondroplasia |
|
Scoliosis, Wind-swept deformity of the knees, Increased laxity of ankles, Osteoarthritis, Irregul... |
ORPHA:750 |
Brachydactyly, Type A1 |
|
Broad metacarpal epiphyses, Short distal phalanx of finger, Radial deviation of the 4th finger, R... |
OMIM:112500 |
Congenital Bilateral Absence Of Vas Deferens |
|
Absent vas deferens, Oligospermia, Obstructive azoospermia, Male infertility |
ORPHA:48 |
Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Ectrodactyly, Bifid femur, Hand monodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Patellar aplasia, Abnormality of fibula morphology, Synostosis of carpal bones, Aplasia/Hypoplasi... |
ORPHA:988 |
Ring Chromosome Y Syndrome |
|
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... |
ORPHA:261529 |
Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Camptodactyly of finger, Finger syndactyly, Synostosis of carpal ... |
ORPHA:957 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Delayed ossification of carpal bones, Short metacarpal, Broad femoral neck,... |
OMIM:607078 |
Faciocardiomelic Dysplasia, Lethal |
|
Short thumb, Radial deviation of the hand, Hypoplasia of the radius, Micrognathia, Talipes, Short... |
OMIM:227270 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Scoliosis, Hip dislocation, Bilateral single transverse palmar creases, Short thumb, Abnormally s... |
ORPHA:968 |
Otopalatodigital Syndrome, Type I |
|
Short distal phalanx of finger, Hip dislocation, Abnormality of the fifth metatarsal bone, Latera... |
OMIM:311300 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Type E brachydactyly, Limited elbow extension, Hip dysplasia, Abnormal hip joint morphology, Flat... |
ORPHA:1856 |
Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna, Split hand |
ORPHA:1118 |
Arthrogryposis, Distal, Type 1A |
|
Camptodactyly, Cryptorchidism, Congenital hip dislocation, Calcaneovalgus deformity, Overlapping ... |
OMIM:108120 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility |
OMIM:309120 |
Solitary Bone Cyst |
|
Lytic defects of the radius, Abnormal ilium morphology, Abnormal humeral diaphysis morphology, Pr... |
ORPHA:83468 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Inc... |
ORPHA:399805 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Postaxial oligodactyly, Aplasia/Hypoplasia of the fibula, Short 5th finger, Aplasia/Hypoplasia of... |
ORPHA:52056 |
Orofaciodigital Syndrome Type 10 |
|
Oligodactyly, Preaxial polydactyly, Metatarsal synostosis, Polysyndactyly of hallux, Radial devia... |
ORPHA:2756 |
Asherman Syndrome |
|
Oligomenorrhea, Dysmenorrhea, Decreased fertility in females, Metrorrhagia, Infertility, Abnormal... |
ORPHA:137686 |
Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Carpal synostosis, Abnormality of the wrist, Tarsal synostosis, Abnormality of the ankle |
ORPHA:2010 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Scoliosis, Thoracic hemivertebrae, Narrow palm, Diabetes insipidus, Syn... |
ORPHA:1445 |
49,Xyyyy Syndrome |
|
Decreased testicular size, Scoliosis, Generalized joint laxity, External genital hypoplasia, Prim... |
ORPHA:99330 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Hypospadias |
OMIM:179250 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hyperextensibility of the finger joints, Delayed ossification of carpal bones, Pseudoepiphyses of... |
OMIM:105835 |
Smith-Mccort Dysplasia 2 |
|
Broad metatarsal, Limited elbow extension, Flattened epiphysis, Short metatarsal, Flat acetabular... |
OMIM:615222 |
Acromesomelic Dysplasia, Grebe Type |
|
Joint stiffness, Short tibia, Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Aplasi... |
ORPHA:2098 |
Maternal Uniparental Disomy Of Chromosome X |
|
Camptodactyly of finger, Scoliosis, Ambiguous genitalia, Short neck, Primary gonadal insufficienc... |
ORPHA:261519 |
Ophthalmomandibulomelic Dysplasia |
|
Elbow dislocation, Camptodactyly of finger, Abnormality of bone mineral density, Synostosis of ca... |
ORPHA:2741 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Genu varum, Delayed ossification of carpal bones, Platyspondyly, Irregular acetabular roof, Metap... |
OMIM:617974 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Short distal phalanx of finger, Short thumb, Proximal placement o... |
ORPHA:90650 |
Ruvalcaba Syndrome |
|
Delayed puberty, Scoliosis, Cryptorchidism, Proximal placement of thumb, Abnormality of the elbow... |
ORPHA:3121 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormality of fibula morphology, Abnormal metaphysis morphology, Abnormal form of the vertebral ... |
ORPHA:1837 |
Osteochondrosis Of The Tarsal Bone |
|
Osteochondritis dissecans, Abnormal tarsal ossification, Arthritis, Pedal edema, Flattening of th... |
ORPHA:563991 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Cryptorchidism, Shawl scrotum, Aplasia of the proximal phalanges of the hand, Aplasia/Hypoplasia ... |
ORPHA:2256 |
Angioosteohypotrophic Syndrome |
|
Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Hypertrophy of the upper li... |
ORPHA:75508 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... |
OMIM:228930 |
Bowen-Conradi Syndrome |
|
Micrognathia, Abnormal joint morphology, Rocker bottom foot, Clinodactyly of the 5th finger |
OMIM:211180 |
Symphalangism, Distal |
|
Craniosynostosis, Distal foot symphalangism, Absent dorsal skin creases over affected joints, Dis... |
OMIM:185700 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, Sc... |
ORPHA:3344 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Azoospermia, Male infertility |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Azoospermia, Male infertility |
OMIM:277180 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormality of the elbow, Humeroradial synostosis, Abnormal mor... |
ORPHA:2019 |
Talonavicular Coalition |
|
Proximal/middle symphalangism of 5th finger, Foot pain, Short hallux, Coalescence of tarsal bones... |
OMIM:186750 |
Distal Arthrogryposis Type 1 |
|
Camptodactyly of finger, Ulnar deviation of finger, Abnormal hip bone morphology, Rocker bottom f... |
ORPHA:1146 |
Ivic Syndrome |
|
Short 1st metacarpal, Small thenar eminence, Absent thumb, Short thumb, Preaxial polydactyly, Sho... |
OMIM:147750 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Limited elbow extension, Coronal craniosynostosis, Hip dysplasia, Capitate-hamate fusion, Short m... |
OMIM:614078 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Short neck, Short 4th metacarpal, Hypergonadotropic hypogonadism, Azoospermia, Cubitus valgus, Ab... |
ORPHA:2183 |
Acrocapitofemoral Dysplasia |
|
Short distal phalanx of finger, Short tibia, Small finger, Micromelia, Flared iliac wing, Radial ... |
OMIM:607778 |
Acromesomelic Dysplasia 2B |
|
Deviation of finger, Absent toe, Short metatarsal, Rhizomelia, Short metacarpal, Patellar disloca... |
OMIM:228900 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619949 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Superior rib anomalies, Abnormality of the cervical spine, Hypergonadotropic h... |
OMIM:307500 |
Holt-Oram Syndrome |
|
Aplasia of the ulna, Limited elbow extension, Short humerus, Small thenar eminence, Absent radius... |
OMIM:142900 |
Testicular Agenesis |
|
Absent testis, Micropenis, Urethrovaginal fistula, Ambiguous genitalia, Urogenital sinus anomaly,... |
ORPHA:325124 |
Premature Ovarian Failure 13 |
|
Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility |
OMIM:261550 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr... |
ORPHA:174 |
Syndromic X-Linked Intellectual Disability 7 |
|
Cryptorchidism, Micropenis, Hypogonadism, Tapered finger, Hypoplasia of penis |
ORPHA:85274 |
Premature Ovarian Failure 20 |
|
Female infertility, Secondary amenorrhea |
OMIM:619938 |
Acrodysostosis |
|
Cryptorchidism, Abnormal morphology of ulna, Hypogonadism, Short metatarsal, Short metacarpal, Ab... |
ORPHA:950 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Scoliosis, Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum... |
ORPHA:3268 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Pes planus, Hip dislocation, Delayed ossification of carpal bones, Dislocated radial head, Patell... |
OMIM:618395 |
Arthrogryposis, Distal, Type 2B1 |
|
Ulnar deviation of the wrist, Camptodactyly of finger, Absent phalangeal crease, Calcaneovalgus d... |
OMIM:601680 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of finger, Short distal phalanx of the 2nd finger, Short thumb, Rhizomelic l... |
OMIM:271700 |
Pseudoachondroplasia |
|
Short distal phalanx of finger, Scoliosis, Radial metaphyseal irregularity, Osteoarthritis, Irreg... |
OMIM:177170 |
Spermatogenic Failure 77 |
|
Cryptorchidism, Abnormal circulating luteinizing hormone concentration, Elevated circulating foll... |
OMIM:620103 |
Van Bogaert-Hozay Syndrome |
|
Distal ulnar hypoplasia, Micrognathia, Osteolytic defects of the phalanges of the hand |
OMIM:277150 |
Spondylocamptodactyly Syndrome |
|
Platyspondyly, Camptodactyly of finger, Scoliosis |
ORPHA:3180 |
Seckel Syndrome 7 |
|
Hip dysplasia, Primary amenorrhea, Hypoplasia of the uterus, Madelung deformity, Short middle pha... |
OMIM:614851 |
Multiple Synostoses Syndrome 1 |
|
Lower limb undergrowth, Absent distal phalanges, Carpal synostosis, Short hallux, Single transver... |
OMIM:186500 |
Winchester Syndrome |
|
Arthropathy, Broad metacarpals, Kyphosis, Carpal osteolysis, Osteolysis involving tarsal bones |
OMIM:277950 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism, Short thumb |
OMIM:274205 |
Arthrogryposis, Distal, Type 1B |
|
Camptodactyly, Rocker bottom foot, Foot joint contracture, Talipes equinovarus, Joint contracture... |
OMIM:614335 |
Gordon Syndrome |
|
Camptodactyly of finger, Pectus excavatum, Scoliosis, Cryptorchidism, Finger syndactyly, Limitati... |
ORPHA:376 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Micromelia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Hypospadias |
ORPHA:2252 |
Tetrasomy X |
|
Premature ovarian insufficiency, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synost... |
ORPHA:9 |
Mietens Syndrome |
|
Elbow ankylosis, Hip dislocation, Hip dysplasia, Abnormality of fibula morphology, Avascular necr... |
ORPHA:2557 |
Mesomelic Dysplasia, Savarirayan Type |
|
Elbow dislocation, Hip dislocation, Hypoplasia of proximal radius, Mesomelia, Fibular aplasia, Gl... |
ORPHA:85170 |
48,Xyyy Syndrome |
|
Short neck, Primary gonadal insufficiency, Dislocated radial head, Azoospermia, Radioulnar synost... |
ORPHA:99329 |
Xq27.3Q28 Duplication Syndrome |
|
Premature ovarian insufficiency, Cryptorchidism, Decreased testicular size, Hypogonadism, Small h... |
ORPHA:261483 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Microphallus, Absence ... |
OMIM:614840 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Radioulnar synostosis, Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger |
ORPHA:71289 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased testicular size, Hypogonadism, Primary amenorrhea, Decreased circulating follicle stimu... |
OMIM:229070 |
Humero-Radio-Ulnar Synostosis |
|
Elbow ankylosis, Aplasia/Hypoplasia of the thumb, Abnormal metacarpal morphology, Radioulnar syno... |
ORPHA:3266 |
Cardiospondylocarpofacial Syndrome |
|
Abnormal form of the vertebral bodies, Synostosis of carpal bones, Short palm, Brachydactyly |
ORPHA:3238 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... |
OMIM:612310 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Calcaneovalgus deformity, Areflexia of lower limbs, Hyporeflexia of lower limbs |
OMIM:162370 |
Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Non-obstructive azoospermia, Azoospermia,... |
OMIM:108420 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Pes cavus, Rocker bottom foot, Proximal femoral epiphysiolysis, Flattened femoral head, Tibial me... |
ORPHA:457395 |
Dyggve-Melchior-Clausen Disease |
|
Short metatarsal, Iliac crest serration, Multicentric ossification of proximal humeral epiphyses,... |
OMIM:223800 |
Mueller-Weiss Syndrome |
|
Positional foot deformity, Knee osteoarthritis, Fragmented, irregular epiphyses, Joint subluxatio... |
ORPHA:566943 |
Bowen-Conradi Syndrome |
|
Camptodactyly of finger, Cryptorchidism, Rocker bottom foot, Micrognathia, Clinodactyly of the 5t... |
ORPHA:1270 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Short humerus, Asymmetric radial dysplasia, Radial club hand, Ectrodactyly, Abnormality of the wr... |
ORPHA:2878 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Metaphyseal chondrodysplasia, Rhizomelia, Short palm, Micrognathia, Abnormality of the calcaneus,... |
ORPHA:163966 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short neck, Abnormal rib morphology, Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the ut... |
ORPHA:2578 |
Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, Foot oligodactyly, Postaxial foot polydactyly, 2-3 toe cutaneous... |
OMIM:206920 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
External genital hypoplasia, Narrow palm, Hypogonadotropic hypogonadism, Small hand, Abnormal uln... |
ORPHA:177910 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... |
ORPHA:399808 |
Spinocerebellar Ataxia 32 |
|
Infertility, Azoospermia, Testicular atrophy |
OMIM:613909 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligomenorrhea, Abnormal sperm morphology, Delayed puberty, Decreased testicular size, Testicular... |
ORPHA:52901 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Decreased testicular size, Abnormality of the thyroid gland, Hypogonadism, Short neck, Abnormalit... |
ORPHA:2234 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Acheiropody |
|
Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m... |
OMIM:200500 |
Frontometaphyseal Dysplasia 1 |
|
Cervical C2/C3 vertebral fusion, Camptodactyly of finger, Scoliosis, Carpal synostosis, Interphal... |
OMIM:305620 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Craniosynostosis, Camptodactyly, Scoliosis, Vertebral fusion, Arthrogryposis multiplex congenita,... |
OMIM:178110 |
Spermatogenic Failure 38 |
|
Abnormal sperm head morphology, Oligospermia, Coiled sperm flagella, Absent sperm flagella, Male ... |
OMIM:618433 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Abnormal circulating luteinizing hormone concentration, Non-ob... |
OMIM:616950 |
48,Xxyy Syndrome |
|
Decreased testicular size, Scoliosis, Cryptorchidism, Hip dysplasia, Hypergonadotropic hypogonadi... |
ORPHA:10 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Juberg-Hayward Syndrome |
|
Limited elbow extension, Abnormal toe morphology, Aplasia/Hypoplasia of the thumb, Decreased resp... |
OMIM:216100 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Narrow greater sciatic notch, Scoliosis, Lumbar hyperlordosis, Irregular vertebral endplates, Fla... |
OMIM:609616 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Short humerus, Cryptorchidism, Hip dislocation, Rhizomelia, Dislocated radial head, Hypoplastic s... |
OMIM:602471 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Short femur,... |
ORPHA:3329 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Short metatarsal, Syndactyly, Short metacarpal, Carpal synostosis, Radioulnar synostosis, Clinoda... |
OMIM:605282 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Abnormality of tibia morphology, Split hand, Aplasia/Hypoplasia of t... |
ORPHA:971 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Knee osteoarthritis, Abnormal metatarsal morphology, Abnormal metacarpophalangeal joint morpholog... |
ORPHA:85438 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Enlargement of the costochondral junction, Narrow greater sciatic notch, Metaphyseal sclerosis, O... |
OMIM:609052 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Camptodactyly of finger, Scoliosis, Joint stiffness, Finger syndactyly, Synostosis of carpal bone... |
ORPHA:1323 |
Spermatogenic Failure 51 |
|
Macrocephalic sperm head, Microcephalic sperm head, Absent sperm axoneme central pair complex, Sh... |
OMIM:619177 |
Ellis-Van Creveld Syndrome |
|
Horizontal ribs, Cryptorchidism, Postaxial foot polydactyly, Cone-shaped epiphyses of phalanges 2... |
OMIM:225500 |
Cenani-Lenz Syndrome |
|
Oligodactyly, Foot oligodactyly, Scoliosis, Hip dislocation, Short thumb, Finger syndactyly, Syno... |
ORPHA:3258 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Delayed puberty, Generalized joint laxity, Primary amenorrhea, Hypoplasia of the uterus, Male hyp... |
ORPHA:432 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Scoliosis, Large joint dislocations, Flattened epiphysis, Irregular epiphyses, Posterior scallopi... |
OMIM:603546 |
Mesomelic Dysplasia, Nievergelt Type |
|
Camptodactyly of finger, Scoliosis, Abnormality of fibula morphology, Bilateral single transverse... |
ORPHA:2633 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Narrow greater sciatic notch, Scoliosis, Dumbbell-shaped femur, Irregular, rachitic-like metaphys... |
OMIM:184252 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Micrognathia, Radioulnar synostosis, Broad hallux, Hypoplasia of the ulna, Metacarpal... |
OMIM:212780 |
Hand-Foot-Genital Syndrome |
|
Short distal phalanx of finger, Short 1st metacarpal, Short thumb, Proximal placement of thumb, S... |
ORPHA:2438 |
Mesomelia-Synostoses Syndrome |
|
Abnormality of the humerus, Ulnar deviation of finger, Joint stiffness, Abnormality of the knee, ... |
ORPHA:2496 |
X-Linked Intellectual Disability, Siderius Type |
|
Decreased testicular size, Scoliosis, Cryptorchidism, Preaxial hand polydactyly, Large hands |
ORPHA:85287 |
Dysspondyloenchondromatosis |
|
Scoliosis, Abnormality of fibula morphology, Generalized joint laxity, Joint dislocation, Anisosp... |
ORPHA:85198 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
3-4 finger syndactyly, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypopl... |
OMIM:609432 |
Acheiropodia |
|
Aplasia of the ulna, Short humerus, Absent hand, Abnormal metaphysis morphology, Absent radius, A... |
ORPHA:931 |
Thrombocytopenia-Absent Radius Syndrome |
|
Hip dislocation, Absent radius, Genu varum, Phocomelia, Aplasia of the uterus, Coxa valga, Finger... |
ORPHA:3320 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
Postaxial Acrofacial Dysostosis |
|
Pectus excavatum, Cryptorchidism, Congenital hip dislocation, Supernumerary vertebrae, Micropenis... |
OMIM:263750 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Short distal phalanx of finger, Absent trapezoid bone, Distal foot symphalangism, Absent trapeziu... |
OMIM:606895 |
Ivic Syndrome |
|
Scoliosis, Joint stiffness, Short thumb, Synostosis of carpal bones, Aplastic clavicle, Radioulna... |
ORPHA:2307 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Absence of pubertal de... |
OMIM:614837 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Limited elbow extension, Genu varum, Metaphyseal cupping, Flattened epiphysis, Pear-shaped verteb... |
OMIM:602111 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Azoospermia, Type II diabetes mellitus, Oligospermia |
OMIM:615703 |
Metatropic Dysplasia |
|
Scoliosis, Relatively short spine, Anisospondyly, Flared iliac wing, Halberd-shaped pelvis, Metap... |
OMIM:156530 |
Shox-Related Short Stature |
|
Forearm undergrowth, Lower limb undergrowth, Madelung deformity, Cubitus valgus, Micrognathia, Sh... |
ORPHA:314795 |
W Syndrome |
|
Camptodactyly, Pes planus, Pes cavus, Metatarsus adductus, Cubitus valgus, Hypoplasia of the ulna... |
ORPHA:2804 |
Arthrogryposis, Distal, Type 1C |
|
Camptodactyly of finger, Scoliosis, Cryptorchidism, Camptodactyly of toe, Short neck, Knee flexio... |
OMIM:619110 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Postaxial Acrofacial Dysostosis |
|
Camptodactyly of finger, Supernumerary nipple, Finger syndactyly, Hypoplasia of the ulna, Microgn... |
ORPHA:246 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Epiphyseal dysplasia, Pectus excavatum, Hypoplastic ilia, Hip dislocation, Hip dysplasia, Cervica... |
OMIM:615349 |
Diamond-Blackfan Anemia 11 |
|
Unilateral radial aplasia, Forearm reduction defects, Radioulnar synostosis, Hypoplasia of the ul... |
OMIM:614900 |
Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip dislocation, Pathologic fracture, Advanced ossification of carpal bones, Delayed proximal fem... |
OMIM:271640 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Cryptorchidism, Short foot, Tapered finger |
OMIM:309585 |
Thrombocytopenia-Absent Radius Syndrome |
|
Hip dislocation, Short thumb, Patellar dislocation, Carpal synostosis, Fibular aplasia, Broad thu... |
OMIM:274000 |
Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Abnormality of the ankle |
ORPHA:1412 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Non-obstructi... |
OMIM:618086 |
48,Xxxy Syndrome |
|
Down-sloping shoulders, Decreased testicular size, Scoliosis, Cryptorchidism, Hip dislocation, Hy... |
ORPHA:96263 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hip dislocation, Proximal placement of thumb, Short metatarsal, Preaxial foot polydactyly, Toe sy... |
OMIM:609945 |
Silver-Russell Syndrome |
|
Abnormal appendicular skeleton morphology, Lower limb asymmetry, Cryptorchidism, Decreased testic... |
ORPHA:813 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Camptodactyly of finger, Scoliosis, Short thumb, Preaxial polydac... |
ORPHA:90652 |
Acrootoocular Syndrome |
|
Short finger, Small thenar eminence, Decreased palmar creases, Short metacarpal, Small hypothenar... |
ORPHA:2980 |
Bardet-Biedl Syndrome 4 |
|
Cryptorchidism, External genital hypoplasia, Polydactyly, Hypogonadism, Syndactyly, Brachydactyly |
OMIM:615982 |
Osteomesopyknosis |
|
Increased bone mineral density, Scoliosis, Kyphosis, Sclerotic vertebral body, Abnormal form of t... |
ORPHA:2777 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Scoliosis, Hip dislocation, Metaphyseal irregularity, Radial head subluxation, Kyphoscoliosis, Fl... |
ORPHA:93360 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Brachydactyly |
ORPHA:35099 |
Arthrogryposis, Distal, Type 5D |
|
Camptodactyly, Congenital hip dislocation, Calcaneovalgus deformity, Micrognathia, Hypoplastic la... |
OMIM:615065 |
Pfeiffer Syndrome |
|
Hip dysplasia, Short neck, Finger syndactyly, Synostosis of carpal bones, Clinodactyly of the 5th... |
ORPHA:710 |
Hemochromatosis, Type 2A |
|
Arthritis, Infertility, Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea |
OMIM:602390 |
Microphthalmia With Limb Anomalies |
|
Hip dislocation, Abnormal form of the vertebral bodies, Short tibia, Abnormality of the upper lim... |
ORPHA:1106 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Hemivertebrae, Vertebral clefting, Rib fusion, Vertebral segmentation defect |
OMIM:608681 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Clinodactyly, Hypoplasia of the ulna, Micrognathia |
ORPHA:357175 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal radial head dislocation, Proximal placement of thumb, Mesomelia, Micrognathia, Aplasia/H... |
OMIM:602418 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Abnormality of the uterus, Finger syndactyly, Abnormal pelvic girdle bone morphology, Microretrog... |
ORPHA:1788 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal spurs, Micropenis, Absent tibia, Preaxial polydactyly, Metaphyseal widening, Postaxia... |
OMIM:613091 |
3M Syndrome |
|
Congenital hip dislocation, Abnormal metaphysis morphology, Abnormality of the elbow, Slender lon... |
ORPHA:2616 |
Satoyoshi Syndrome |
|
Abnormal joint morphology, Abnormality of the humerus, Hypoplasia of the ovary, Abnormal metaphys... |
ORPHA:3130 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Oligomenorrhea, Delayed puberty, Secondary amenorrhea, Abnormality of the Leydig cells, Micropeni... |
OMIM:228300 |
Tarsal Coalition |
|
Tarsal synostosis |
OMIM:186850 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Aplasia of the 3rd finger, Absent tibia, Hand monodactyly, Short hallux, Absent... |
OMIM:119100 |
Acrodysplasia Scoliosis |
|
Scoliosis, Spina bifida occulta, Vertebral segmentation defect, Brachydactyly |
ORPHA:2956 |
Hao-Fountain Syndrome |
|
Cryptorchidism, Hallux valgus, Micropenis, Delayed cranial suture closure, Premature adrenarche, ... |
OMIM:616863 |
Omodysplasia 2 |
|
Short humerus, Scoliosis, Cryptorchidism, Micropenis, Dyspareunia, Dislocated radial head, Labial... |
OMIM:164745 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Absent phalangeal crease, Fused thoracic vertebrae, Scoliosis, Short neck, Talipes equinovarus, F... |
OMIM:618469 |
Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus, Aplasia/hypoplasia involving bones of the upper limbs, Aplasia/Hypoplas... |
ORPHA:40366 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Delayed puberty, Primary amenorrhea, Contracture of the proximal interphalangeal joint of the 5th... |
ORPHA:2232 |
Sprengel Deformity |
|
Scoliosis, Hemivertebrae, Cervical segmentation defect, Rib segmentation abnormalities, Spina bif... |
OMIM:184400 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Infertility, Hypogonad... |
OMIM:146110 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Clinodactyly, Hypoplasia of the ulna, Micrognathia |
OMIM:615162 |
Ritscher-Schinzel Syndrome 3 |
|
Cryptorchidism, Ulnar bowing, Shortening of all distal phalanges of the fingers, Micrognathia, Ep... |
OMIM:619135 |
49,Xxxxy Syndrome |
|
Down-sloping shoulders, Decreased testicular size, Scoliosis, Cryptorchidism, Hip dislocation, Hy... |
ORPHA:96264 |
Image Syndrome |
|
Adrenal hypoplasia, Cryptorchidism, Hypogonadism, Metaphyseal dysplasia, Hypospadias |
ORPHA:85173 |
47,Xyy Syndrome |
|
Increased serum testosterone level, Cryptorchidism, Micropenis, Varicocele, Finger clinodactyly, ... |
ORPHA:8 |
Arthrogryposis, Distal, Type 2B2 |
|
Ulnar deviation of the wrist, Camptodactyly, Hip dislocation, Tapered finger, Brachydactyly, Shor... |
OMIM:618435 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Craniosynostosis, Forearm undergrowth, Lower limb undergrowth |
OMIM:218650 |
Spondylometaphyseal Dysplasia, Axial |
|
Thoracic hypoplasia, Scoliosis, Anterior rib cupping, Platyspondyly, Short femoral neck, Narrow c... |
OMIM:602271 |
Weaver Syndrome |
|
Calcaneovalgus deformity, Pes cavus, Broad thumb, Single transverse palmar crease, Large hands, L... |
OMIM:277590 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Thoracic dysplasia, Horizontal ribs, Cryptorchidism, Lateral clavicle hook, Postaxial polydactyly... |
OMIM:615633 |
Muenke Syndrome |
|
Clinodactyly, Coronal craniosynostosis, Thimble-shaped middle phalanges of hand, Capitate-hamate ... |
OMIM:602849 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Hypoplasia of the odontoid pro... |
OMIM:609813 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Calcaneovalgus deformity, Pes planus, Genu recurvatum |
OMIM:225320 |
Tukel Syndrome |
|
Postaxial oligodactyly, Carpal synostosis, Syndactyly, Carpal bone aplasia |
OMIM:609428 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Delayed puberty, Increased size of the clitoris, Scoliosis, Abnormal metacarpophalangeal joint mo... |
ORPHA:95699 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short distal phalanx of finger, Scoliosis, Short greater sciatic notch, Absent epiphyses of the p... |
ORPHA:93314 |
Borjeson-Forssman-Lehmann Syndrome |
|
Delayed puberty, Scoliosis, Cryptorchidism, Micropenis, Hypoplasia of the prostate, Scheuermann-l... |
OMIM:301900 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Decreased testicular size, Hypoplasia of the ovary, Primary amen... |
OMIM:612885 |
Spondylocarpotarsal Synostosis Syndrome |
|
Scoliosis, Carpal synostosis, Bowed humerus, Delayed skeletal maturation, Coxa vara, Brachydactyl... |
OMIM:272460 |
Acro-Renal-Mandibular Syndrome |
|
Uterus didelphys, Hip dislocation, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split h... |
ORPHA:958 |
Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Genu varum, Metaphyseal cupping, Hypoplastic scapulae, Micromelia... |
ORPHA:85166 |
Waardenburg Syndrome, Type 3 |
|
Camptodactyly of finger, Scapular winging, Carpal synostosis, Clinodactyly, Cutaneous finger synd... |
OMIM:148820 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Scoliosis, Hip dysplasia, Proximal placement of thumb, Joint dislocation... |
ORPHA:628 |
Osteomesopyknosis |
|
Infertility, Increased bone mineral density, Low back pain |
OMIM:166450 |
Spondylocostal Dysostosis 5 |
|
Scoliosis, Vertebral fusion, Low back pain, Butterfly vertebrae, Short neck, Missing ribs, Hemive... |
OMIM:122600 |
Spermatogenic Failure 14 |
|
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... |
OMIM:615842 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Osteoporosis, Small pi... |
OMIM:614880 |
Larsen-Like Syndrome |
|
Radial deviation of the 4th finger, Joint dislocation, Talipes equinovarus, Bipartite calcaneus, ... |
OMIM:608545 |
Ulnar-Mammary Syndrome |
|
Hypoplastic nipples, Short 5th finger, Hypoplasia of the radius, Anterior pituitary hypoplasia, S... |
OMIM:181450 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
46,Xy Partial Gonadal Dysgenesis |
|
Delayed puberty, Primary amenorrhea, Ambiguous genitalia, Elevated circulating follicle stimulati... |
ORPHA:251510 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Accelerated skeletal maturation, Male infertility, Long penis, Macroorchidism, Oligospermia, Prec... |
ORPHA:3000 |
Ruvalcaba Syndrome |
|
Delayed puberty, Limited elbow extension, Scoliosis, Cryptorchidism, Short metatarsal, Short meta... |
OMIM:180870 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Kyphosis, Hyperinsulinemia, Hyperg... |
ORPHA:3085 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Camptodactyly, Calcaneovalgus deformity, 11 pairs of ribs, Knee flexion contracture, Micrognathia... |
OMIM:616266 |
Epiphyseal Dysplasia, Baumann Type |
|
Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Aplasia of metacarpal bones... |
OMIM:610797 |
Dysplasia Epiphysealis Hemimelica |
|
Joint stiffness, Genu varum, Bone pain, Osteoarthritis, Abnormal epiphysis morphology, Irregular ... |
ORPHA:1822 |
Nievergelt Syndrome |
|
Metatarsal synostosis, Mesomelia, Radioulnar synostosis, Radial head subluxation, Talipes equinov... |
OMIM:163400 |
Kyphomelic Dysplasia |
|
Lateral clavicle hook, Abnormal metaphysis morphology, Joint stiffness, Missing ribs, Flat acetab... |
ORPHA:1801 |
Thoracic Dysostosis, Isolated |
|
Short ribs, Pectus excavatum, Bell-shaped thorax |
OMIM:187750 |
Radial Ray Hypoplasia With Choanal Atresia |
|
Distally placed thumb, Hypoplasia of the radius, Small thenar eminence, Short thumb |
OMIM:179270 |
Fibular Hemimelia |
|
Oligodactyly, Short tibia, Increased laxity of ankles, Toe syndactyly, Short toe, Fibular aplasia... |
ORPHA:93323 |
Familial Hyperprolactinemia |
|
Oligomenorrhea, Osteoporosis, Osteopenia, Infertility, Female hypogonadism, Menorrhagia, Amenorrh... |
ORPHA:397685 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Cryptorchidism, Bilateral talipes equinovarus, Osteoporosis, Coxa valga, Patellar subluxation, Fi... |
ORPHA:2958 |
Hand-Foot-Genital Syndrome |
|
Proximal placement of thumb, Short 5th finger, Short hallux, Uterus didelphys, Short 1st metacarp... |
OMIM:140000 |
X-Linked Intellectual Disability, Hedera Type |
|
Absent Achilles reflex, Hyporeflexia of upper limbs, Calcaneovalgus deformity, Hyporeflexia of lo... |
ORPHA:93952 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Cryptorchidism, Hypogonadism, Short neck, Abnormal diaphysis morphology,... |
ORPHA:3409 |
Roberts Syndrome |
|
Proximal placement of thumb, Abnormality of the upper limb, Hypoplasia of the radius, Bilateral s... |
ORPHA:3103 |
Aromatase Deficiency |
|
Cryptorchidism, Primary amenorrhea, Osteoporosis, Bone pain, Osteopenia, Hypergonadotropic hypogo... |
ORPHA:91 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Tracheomalacia, Joint stiffness, Abnormal finger morphology, Synostosis ... |
ORPHA:896 |
Fetal Akinesia Deformation Sequence 4 |
|
Camptodactyly, Cryptorchidism, Short neck, Kyphosis, Rocker bottom foot, 11 pairs of ribs, Arthro... |
OMIM:618393 |
Juberg-Hayward Syndrome |
|
Short thumb, Abnormal finger morphology, Abnormality of the elbow, Abnormality of the wrist, Abno... |
ORPHA:2319 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Absent tibia, Bifid femur, Hand monodactyly, Foot monodactyly, Split hand |
OMIM:228250 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Abnormality of the vertebral column, Hypoplasia of the uterus, Abnormal rib morphology, Azoosperm... |
OMIM:601076 |
Muenke Syndrome |
|
Coronal craniosynostosis, Carpal synostosis, Short palm, Short foot, Tarsal synostosis, Cone-shap... |
ORPHA:53271 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Scoliosis, Hip dislocation, Joint stiffness, Finger syndactyly, Abnormality of the elbow, Synosto... |
ORPHA:1005 |
Three M Syndrome 3 |
|
Prominent calcaneus, Hip dysplasia, Slender long bone, Clinodactyly of the 5th finger |
OMIM:614205 |
Femoral-Facial Syndrome |
|
Maternal diabetes, Abnormal sacrum morphology, Scoliosis, Cryptorchidism, Hip dysplasia, Abnormal... |
ORPHA:1988 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Scoliosis, Hip dysplasia, Short thumb, Metatarsal synostosis, Flattened epiphysis, Short metatars... |
ORPHA:93307 |
Acrorenal-Mandibular Syndrome |
|
Uterus didelphys, Hand polydactyly, Hip dislocation, Missing ribs, Hypoplastic scapulae, Foot pol... |
OMIM:200980 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Patellar aplasia, Wide capital femoral epiphyses, Patellar hypoplasia, Patellar dislocation, Shor... |
OMIM:147891 |
3Q13 Microdeletion Syndrome |
|
Cryptorchidism, Joint stiffness, Short neck, Abnormality of the hand, Hypoplasia of penis, Narrow... |
ORPHA:1621 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Primary amenorrhea, Decrease... |
OMIM:614897 |
Thalidomide Embryopathy |
|
Radial club hand, Abnormality of fibula morphology, Aplasia/Hypoplasia of the thumb, Aplasia/hypo... |
ORPHA:3312 |
Intellectual Disability, Wolff Type |
|
Camptodactyly of finger, Short distal phalanx of finger, Scoliosis, Cryptorchidism, Clinodactyly ... |
ORPHA:3080 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Metaphyseal cupping, Hypoplasia of the calcaneus, Rhizomelia, Metaphyseal cupping of proximal pha... |
OMIM:300863 |
Poland Syndrome |
|
Scoliosis, Abnormality of the humerus, Absent hand, Diabetes mellitus, Asymmetry of the thorax, F... |
ORPHA:2911 |
Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias |
OMIM:241100 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Decreased testicular size, Cryptorchidism, Micropenis, Bilateral talipes equinovarus, Abnormality... |
ORPHA:251028 |
Chromosome 20Q11-Q12 Deletion Syndrome |
|
Camptodactyly, Tarsal osteovalgus, Finger clinodactyly, Adducted thumb, Brachydactyly |
OMIM:614257 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Delayed puberty, Scoliosis, Ambiguous genitalia, Short metatarsal, Abnormal internal genitalia, S... |
ORPHA:1772 |
Prolactin Deficiency, Isolated |
|
Infertility, Irregular menstruation |
OMIM:264110 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal metaphysis morphology, Ambiguous genitalia, Short neck, Proximal placement of thumb, Abn... |
ORPHA:93267 |
Osteogenesis Imperfecta, Type Vi |
|
Vertebral compression fracture, Protrusio acetabuli, Joint laxity, Beaking of vertebral bodies, I... |
OMIM:613982 |
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Ambiguous genitalia, male, Urogenital ... |
ORPHA:753 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Scoliosis, Vertebral fusion, Supernumerary vertebrae, Short neck, Short ribs, Missing ribs, Thin ... |
OMIM:271520 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
Prieto Syndrome |
|
Cryptorchidism, 11 pairs of ribs, Osteoporosis, Coxa valga, Patellar subluxation, Patellar disloc... |
OMIM:309610 |
Distal Duplication 5Q |
|
Craniosynostosis, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Hypoplasia of the ulna, ... |
ORPHA:96097 |
Subaortic Stenosis-Short Stature Syndrome |
|
Scoliosis, Short neck, Synostosis of carpal bones, Kyphosis, Bilateral single transverse palmar c... |
ORPHA:3191 |
Thoracomelic Dysplasia |
|
Short ribs, Bell-shaped thorax |
OMIM:273740 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Calcaneovalgus deformity, Equinovarus deformity, Rocker bottom foot, ... |
ORPHA:3078 |
Ulnar-Mammary Syndrome |
|
Delayed puberty, Short distal phalanx of finger, Abnormality of the humerus, Absent hand, Camptod... |
ORPHA:3138 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Oligodactyly, Cryptorchidism, Aplasia/Hypoplasia of the radius, Abnormality of the wrist, Aplasia... |
ORPHA:1307 |
X-Linked Intellectual Disability, Van Esch Type |
|
Decreased testicular size, Cryptorchidism, Coronal craniosynostosis, Retractile testis, Hypergona... |
ORPHA:163976 |
Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Bilateral cryptorchidism, Male infer... |
ORPHA:90797 |
Polydactyly-Myopia Syndrome |
|
Cryptorchidism, Postaxial hand polydactyly |
ORPHA:2917 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Epiphyseal dysplasia, Hip dislocation, Ivory epiphyses of the toes, Irregular vertebral endplates... |
OMIM:226980 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
Patellar aplasia, Dislocated radial head, Short metacarpal, Patellar hypoplasia, Mesomelia, Clino... |
OMIM:617604 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Lumbar hyperlordosis, Short greater sciatic notch, Hypoplasia of proximal radius, Flared femoral ... |
OMIM:184253 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Short femoral neck, Delayed ossification of carpal bones, Kyphosis, Brachydactyly |
OMIM:618392 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating dehydroepiandrosterone concentration, Scoliosis, Primary amenorrhea, Ambigu... |
OMIM:201750 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad long bones, Flared iliac wing, Metaphyseal irregularity, Posterior rib cupping, Cone-shaped... |
OMIM:300106 |
Larsen Syndrome |
|
Elbow dislocation, Cryptorchidism, Hip dislocation, Vertebral fusion, Spatulate thumbs, Multiple ... |
OMIM:150250 |
Fatco Syndrome |
|
Absent hand, Abnormality of fibula morphology, Finger syndactyly, Abnormality of tibia morphology... |
ORPHA:2492 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Flexion contracture, Scoliosis, Cryptorchidism, Short neck, Kyphosis, Bell-shaped thorax, Single ... |
ORPHA:178148 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
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Pes planus, Cryptorchidism, Hip dislocation, Hallux valgus, Abnormal toe morphology, Joint disloc... |
ORPHA:536532 |
Fanconi Anemia, Complementation Group O |
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Small thenar eminence, Cryptorchidism, Short thumb, Proximal placement of thumb, External genital... |
OMIM:613390 |
Carpenter Syndrome |
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Craniosynostosis, Cryptorchidism, External genital hypoplasia, Polydactyly, Finger syndactyly, Sy... |
ORPHA:65759 |
Apert Syndrome |
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Broad thumb, Vaginal atresia, Preaxial hand polydactyly, Sagittal craniosynostosis, Cutaneous fin... |
OMIM:101200 |
Metatropic Dysplasia |
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Camptodactyly of finger, Scoliosis, Abnormal metaphysis morphology, Long thorax, Joint stiffness,... |
ORPHA:2635 |
X-Linked Intellectual Disability, Cilliers Type |
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Decreased testicular size, Cryptorchidism, Coronal craniosynostosis, Hypergonadotropic hypogonadi... |
ORPHA:163971 |
Bent Bone Dysplasia Syndrome 2 |
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Thin ribs, Short tibia, Bowed humerus, Short 1st metacarpal, Short sternum, Short lower limbs, Mi... |
OMIM:620076 |
Jackson-Weiss Syndrome |
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Craniosynostosis, Broad metatarsal, Coronal craniosynostosis, Calcaneonavicular fusion, Broad dis... |
OMIM:123150 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
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Reduced circulating growth hormone concentration, Decreased testicular size, Decreased cirrculati... |
OMIM:300845 |
Laurin-Sandrow Syndrome |
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Limb duplication, Cryptorchidism, Absent radius, Absent tibia, Finger syndactyly, Abnormality of ... |
ORPHA:2378 |
Martsolf Syndrome 1 |
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Short toe, Thoracic scoliosis, Short phalanx of finger, Osteopathia striata, Cryptorchidism, Micr... |
OMIM:212720 |
Three M Syndrome 2 |
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Slender long bone, Scapular winging, Prominent calcaneus, Short 5th finger, Clinodactyly |
OMIM:612921 |
Kennedy Disease |
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Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy |
ORPHA:481 |
Laurin-Sandrow Syndrome |
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Patellar aplasia, Hand polydactyly, Absent radius, Absent tibia, Syndactyly, Broad foot, Triphala... |
OMIM:135750 |
Wt Limb-Blood Syndrome |
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Ulnar deviation of the 3rd finger, Cryptorchidism, Short thumb, Joint contracture of the 5th fing... |
OMIM:194350 |
Mosaic Trisomy 14 |
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Camptodactyly of finger, Cryptorchidism, Short neck, Hypoplasia of penis, Abnormal rib morphology... |
ORPHA:1703 |
Spermatogenic Failure, X-Linked, 4 |
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Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, Azoospermia, M... |
OMIM:301077 |
Ovarian Dysgenesis 3 |
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Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, ... |
OMIM:614324 |
Chromosome 2P16.1-P15 Deletion Syndrome |
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Camptodactyly, Cryptorchidism, Decreased testicular size, Micropenis, Hypogonadism, Calcaneovalgu... |
OMIM:612513 |
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
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Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Bilateral talipes equinovarus, Fle... |
ORPHA:319332 |
Trisomy 4P |
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Camptodactyly of finger, Scoliosis, Cryptorchidism, Radial club hand, Short neck, Preaxial hand p... |
ORPHA:1738 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
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Cryptorchidism, Short metacarpal, Short thumb, Delayed skeletal maturation |
ORPHA:2489 |
Testicular Anomalies With Or Without Congenital Heart Disease |
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Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Microphallus, Testicular dysgenesis, A... |
OMIM:615542 |
Tetralogy Of Fallot |
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Brachydactyly, Cryptorchidism, Clinodactyly of the 5th finger |
ORPHA:3303 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
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Slender long bones with narrow diaphyses, Metaphyseal striations, Short femoral neck, Cubitus val... |
OMIM:608154 |
Heart Defects-Limb Shortening Syndrome |
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Abnormal metaphysis morphology, Kyphosis, Abnormal rib morphology, Narrow chest, Accelerated skel... |
ORPHA:1354 |
Endosteal Hyperostosis, Worth Type |
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Abnormal rib morphology, Clavicular sclerosis, Sclerotic vertebral body, Abnormal form of the ver... |
ORPHA:2790 |
Autosomal Dominant Spondylocostal Dysostosis |
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Abnormal sacrum morphology, Scoliosis, Short neck, Missing ribs, Abnormal rib morphology, Posteri... |
ORPHA:1797 |
Van Den Ende-Gupta Syndrome |
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Narrow foot, Joint contracture of the hand, Camptodactyly of toe, Hallux valgus, Knee flexion con... |
OMIM:600920 |
Autosomal Recessive Robinow Syndrome |
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Short distal phalanx of finger, Scoliosis, Camptodactyly of finger, Toe syndactyly, Broad thumb, ... |
ORPHA:1507 |
Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
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Madelung deformity, Limited pronation/supination of forearm, Radial bowing |
DECIPHER:58 |
Multiple Epiphyseal Dysplasia, Lowry Type |
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Epiphyseal dysplasia, Scoliosis, Flattened epiphysis, Dislocated radial head, Knee flexion contra... |
ORPHA:166016 |
Atelosteogenesis, Type I |
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Clubbing, Long clavicles, Short metatarsal, Multinucleated giant chondrocytes in epiphyseal carti... |
OMIM:108720 |
Sheldon-Hall Syndrome |
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Ulnar deviation of the wrist, Scoliosis, Ulnar deviation of finger, Joint stiffness, Short neck, ... |
ORPHA:1147 |
Adrenal Hypoplasia, Congenital |
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Delayed puberty, Adrenal hypoplasia, Cryptorchidism, Decreased circulating cortisol level, Decrea... |
OMIM:300200 |
Multiple Osteochondromas |
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Femoroacetabular impingement, Deformed forearm bones, Abnormal morphology of ulna, Short lower li... |
ORPHA:321 |
Desbuquois Dysplasia 1 |
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Partial duplication of the distal phalanx of the hallux, Flattened epiphysis, Short metatarsal, A... |
OMIM:251450 |
Eiken Syndrome |
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Epiphyseal dysplasia, Abnormal bone ossification, Abnormal fingertip morphology, Delayed epiphyse... |
ORPHA:79106 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Hand polydactyly, Early ossification of capital femoral epiphyses, Pancreatic fibrosis, Short rib... |
OMIM:208500 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
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