| Oocyte Maturation Defect 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I |
ORPHA:488191 |
| Oocyte Maturation Defect 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
| Spermatogenic Failure 5 |
|
Male infertility, Functional abnormality of male internal genitalia |
OMIM:243060 |
| Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia |
OMIM:619108 |
| Spermatogenic Failure 50 |
|
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest |
OMIM:619145 |
| Spermatogenic Failure 1 |
|
Male infertility, Oligospermia, Cryptozoospermia |
OMIM:258150 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency |
OMIM:619245 |
| Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
| Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Spermatogenic Failure 43 |
|
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... |
OMIM:619094 |
| Spermatogenic Failure 46 |
|
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... |
OMIM:619095 |
| Partial Chromosome Y Deletion |
|
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... |
ORPHA:1646 |
| Spermatogenic Failure 47 |
|
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility |
OMIM:619102 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 40 |
|
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... |
OMIM:618664 |
| Spermatogenic Failure 7 |
|
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia |
OMIM:612997 |
| Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... |
OMIM:301059 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Spermatogenic Failure 12 |
|
Infertility, Azoospermia, Abnormal male germ cell morphology |
OMIM:615413 |
| Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
| Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
| Isochromosomy Yp |
|
Ambiguous genitalia, Decreased testicular size, Male infertility, Azoospermia |
ORPHA:98797 |
| Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
| Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
| Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
| Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility |
OMIM:618670 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... |
ORPHA:529970 |
| Spermatogenic Failure 39 |
|
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... |
OMIM:618643 |
| Spermatogenic Failure 54 |
|
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... |
OMIM:619379 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Spermatogenic Failure 3 |
|
Infertility |
OMIM:606766 |
| Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
| Oocyte Maturation Defect 1 |
|
Infertility |
OMIM:615774 |
| Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
| Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
| Oocyte Maturation Defect 4 |
|
Infertility |
OMIM:617743 |
| Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
| Spermatogenic Failure 42 |
|
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... |
OMIM:618745 |
| Spermatogenic Failure 18 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
| Spermatogenic Failure 20 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 19 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
| Spermatogenic Failure 35 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
| Spermatogenic Failure 33 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
| Spermatogenic Failure 34 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
| Spermatogenic Failure 11 |
|
Infertility, Abnormal sperm morphology |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
| Isochromosomy Yq |
|
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... |
ORPHA:98798 |
| Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Abnormality of male internal genitalia |
OMIM:261550 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Infertility, Abnormal sperm morphology |
OMIM:608653 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility, Recurrent spontaneous abortion |
OMIM:618432 |
| Spermatogenic Failure 38 |
|
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... |
OMIM:618433 |
| Syndactyly Type 4 |
|
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... |
ORPHA:93405 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... |
OMIM:601376 |
| Spermatogenic Failure 16 |
|
Infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
| Spermatogenic Failure 21 |
|
Infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617644 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... |
OMIM:118651 |
| Oocyte Maturation Defect 10 |
|
Female infertility, Spontaneous abortion |
OMIM:619176 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Male infertility, Obstructive azoospermia |
OMIM:301060 |
| Chondrodysplasia, Grebe Type |
|
Hypoplasia of the radius, Postaxial hand polydactyly, Short femur, Short phalanx of finger, Flexi... |
OMIM:200700 |
| Acrocapitofemoral Dysplasia |
|
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... |
OMIM:607778 |
| Fibular Hemimelia |
|
Craniosynostosis, Hip subluxation, Joint laxity, Structural foot deformity, Bowing of the legs, J... |
ORPHA:93323 |
| Hypogonadotropic Hypogonadism 24 Without Anosmia |
|
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism |
OMIM:229070 |
| Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
| Ring Chromosome Y Syndrome |
|
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... |
ORPHA:261529 |
| Insulin-Like Growth Factor I Deficiency |
|
Decreased body weight, Radial deviation of finger, Clinodactyly, Hyperactivity, Osteopenia, Micro... |
OMIM:608747 |
| Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Endometriosis, Dysmenorrhea |
OMIM:131200 |
| Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
| Spermatogenic Failure 2 |
|
Azoospermia, Oligospermia |
OMIM:108420 |
| Spermatogenic Failure 25 |
|
Decreased testicular size, Azoospermia, Cryptozoospermia |
OMIM:617960 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia |
OMIM:277180 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
| Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
| Acromesomelic Dysplasia, Grebe Type |
|
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... |
ORPHA:2098 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... |
OMIM:112910 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... |
OMIM:201250 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia |
ORPHA:48 |
| Lethal Faciocardiomelic Dysplasia |
|
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap... |
ORPHA:1972 |
| Leri-Weill Dyschondrosteosis |
|
Radial bowing, Limited wrist movement, Hypoplasia of the radius, Short 4th metacarpal, Abnormal m... |
OMIM:127300 |
| Pyknoachondrogenesis |
|
Stillbirth, Increased bone mineral density |
OMIM:265880 |
| Eiken Syndrome |
|
Short toe, Abnormal bone ossification, Short phalanx of finger, Abnormal trabecular bone morpholo... |
ORPHA:79106 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
| Léri-Weill Dyschondrosteosis |
|
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Joint stiffn... |
ORPHA:240 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Non-obstructive azoospermia, Obstructive azoospermia, Decreased testicular size, Abn... |
ORPHA:399805 |
| Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Female infertility, Secondary amenorr... |
OMIM:612310 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Asherman Syndrome |
|
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... |
ORPHA:137686 |
| Spermatogenic Failure 51 |
|
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... |
OMIM:619177 |
| Mental Retardation, Autosomal Dominant 45 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617600 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
| Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelia, Hypoplasia of the ulna, S... |
OMIM:249700 |
| Spermatogenic Failure 4 |
|
Azoospermia, Recurrent spontaneous abortion |
OMIM:270960 |
| Acheiropody |
|
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Perom... |
OMIM:200500 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
| Familial Male-Limited Precocious Puberty |
|
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty |
ORPHA:3000 |
| Hypoplastic Tibiae-Postaxial Polydactyly Syndrome |
|
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... |
ORPHA:3332 |
| Hip Dysplasia, Beukes Type |
|
Hip dysplasia, Abnormal bone ossification, Abnormal ossification involving the femoral head and n... |
ORPHA:2114 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Fibular bowing, Genu valgum, Generalized bone demineralization, Metaphyseal ir... |
OMIM:600785 |
| Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... |
OMIM:619217 |
| Stuve-Wiedemann Syndrome |
|
Abnormal dental enamel morphology, Short phalanx of finger, Pathologic fracture, Micrognathia, El... |
OMIM:601559 |
| Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Mental Retardation, Autosomal Dominant 33 |
|
Decreased body weight, Hyperactivity |
OMIM:616311 |
| Mental Retardation, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Talipes equinovalgus, Mesomelia, Short tibia, Hip dislocation, Fibular ap... |
OMIM:605274 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Skeletal Defects, Genital Hypoplasia, And Mental Retardation |
|
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... |
OMIM:612447 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... |
ORPHA:2790 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Orofaciodigital Syndrome Type 10 |
|
Mesomelic arm shortening, Prominent calcaneus, Fibular aplasia, Oligodactyly, Tarsal synostosis, ... |
ORPHA:2756 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Non-obstructive azoospermia, Decreased testicular size, Abnormal sperm morpholog... |
ORPHA:399808 |
| Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
| Tibial Hemimelia |
|
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... |
ORPHA:93322 |
| Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... |
ORPHA:1505 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... |
ORPHA:1986 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... |
ORPHA:3329 |
| Slc35A2-Cdg |
|
Inability to walk, Camptodactyly of finger, Joint hypermobility, Craniosynostosis, Abnormality of... |
ORPHA:356961 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Osteoporosis, Glucose intolerance, Impaired glucose tolerance, Gout, Diabetes mellitus |
OMIM:610947 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age, Hyperactivity |
ORPHA:356996 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
| Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormality of the ribs |
ORPHA:100073 |
| Caffey Disease |
|
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs, Cortical irregula... |
OMIM:114000 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Pectus carinatum, Abnormality of the ribs, Radioulnar synostosis |
ORPHA:3268 |
| Weismann-Netter Syndrome |
|
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Abnormal cortical... |
ORPHA:3344 |
| Orofaciodigital Syndrome Viii |
|
Polydactyly, Short tibia, Syndactyly |
OMIM:300484 |
| Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Hyperactivity |
OMIM:616657 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Triphalangeal thumb, Oligodactyly, Overlapping toe, Fibular hypoplasia, Clinodactyly, 11 pairs of... |
OMIM:201170 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Cortical thickening of long bone diaphyses, Tibial bowing, Increased bone mi... |
OMIM:166740 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity |
OMIM:309548 |
| Microcephaly-Micromelia Syndrome |
|
Oligodactyly, Humeroradial synostosis, Craniosynostosis, Forearm undergrowth, Absent radius, Tali... |
OMIM:251230 |
| Laurin-Sandrow Syndrome |
|
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... |
OMIM:135750 |
| Dyschondrosteosis And Nephritis |
|
Radial bowing, Short tibia, Ulnar bowing, Short forearm |
OMIM:127350 |
| Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance, Primary amenorrhea, Osteopenia |
OMIM:615363 |
| Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... |
OMIM:228930 |
| Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility |
OMIM:264110 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Developmental And Epileptic Encephalopathy 43 |
|
Ataxia, Hyperactivity |
OMIM:617113 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Short middle phalanx of finger, Metaphys... |
OMIM:156500 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... |
OMIM:601560 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Rickets, ... |
OMIM:600081 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sandal gap, Short ribs, Small f... |
OMIM:607143 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Narrow chest, Abnormal cortical bone m... |
ORPHA:2635 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormality of the ribs |
ORPHA:2435 |
| Androgen Insensitivity Syndrome |
|
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... |
ORPHA:754 |
| Classic Galactosemia |
|
Osteoporosis, Decreased fertility in females, Dystonia, Lethargy, Oligomenorrhea, Gait imbalance,... |
ORPHA:79239 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Talipes equinovarus, Small for gestational age, Congenital bilateral hip dislocation, Hyperactivity |
ORPHA:85288 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis |
OMIM:614897 |
| Osteomalacia, Sclerosing, With Cerebral Calcification |
|
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density |
OMIM:259660 |
| Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormality of the ribs |
ORPHA:1513 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility, Spontaneous abortion |
OMIM:136580 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Knee osteoarthri... |
ORPHA:93356 |
| Microphthalmia With Limb Anomalies |
|
Tarsal synostosis, Broad thumb, Abnormality of the metacarpal bones, Sandal gap, Micrognathia, Po... |
ORPHA:1106 |
| Smith-Magenis syndrome |
|
Brachydactyly, Hyperactivity |
DECIPHER:8 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Cortical sclerosis, Thickened ribs, Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaph... |
OMIM:122860 |
| Acromesomelic Dysplasia, Demirhan Type |
|
Aplasia of the proximal phalanges of the hand, Short toe, Tarsal synostosis, Short phalanx of fin... |
OMIM:609441 |
| Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
Hip dysplasia, Shortening of all distal phalanges of the fingers, Flexion contracture, 2-3 toe sy... |
OMIM:616809 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Short foot, Small hand, Hyperactivity, Talipes equinovarus, Hip dislocation |
OMIM:300434 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Gait ataxia, Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, Impaired g... |
OMIM:606721 |
| Orofaciodigital Syndrome Iv |
|
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... |
OMIM:258860 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
| Kyphomelic Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Joint stiffness, Undulat... |
ORPHA:1801 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat... |
ORPHA:988 |
| Grant Syndrome |
|
Abnormality of the glenoid fossa, Narrow chest, Joint hyperflexibility, Sprengel anomaly, Abnorma... |
ORPHA:2097 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
| Femoral-Facial Syndrome |
|
Hip dysplasia, Maternal diabetes, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, ... |
ORPHA:1988 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Absent tibia, Split hand, Hand monodactyly, Split foot, Patellar aplasia, Aplasia o... |
OMIM:119100 |
| Atelosteogenesis Type Iii |
|
Vertebral hypoplasia, Talipes equinovarus, Fibular aplasia, Absent humerus, Club-shaped distal fe... |
ORPHA:56305 |
| Du Pan Syndrome |
|
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Bra... |
OMIM:228900 |
| Laurin-Sandrow Syndrome |
|
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Tal... |
ORPHA:2378 |
| Metaphyseal Acroscyphodysplasia |
|
Irregular phalanges, Craniosynostosis, Short phalanx of finger, Hypoplasia of the odontoid proces... |
OMIM:250215 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Limited elbow extension, Femoral bowing, Flared iliac wing, Rhizomelia, Metaphysea... |
OMIM:602111 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Osteoporosis, Insulin resistance, Hypoglycemia, Clinodactyly of the 5th finger, Truncal obesity, ... |
ORPHA:73272 |
| Androgen Insensitivity, Partial |
|
Infertility, Cryptorchidism, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... |
OMIM:312300 |
| Achondrogenesis Type 1B |
|
Short thorax, Narrow chest, Abnormal enchondral ossification, Umbilical hernia, Femoral hernia, A... |
ORPHA:93298 |
| Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Small for gestational age, Failure to thrive, Hyperactivity, Clinodactyly of the 5th... |
OMIM:609425 |
| Orofaciodigital Syndrome Ix |
|
Short tibia, Camptodactyly, Hand polydactyly, Toe syndactyly |
OMIM:258865 |
| Omodysplasia 1 |
|
Limited elbow extension, Hypoplastic distal humeri, Limited knee extension, Rhizomelia, Limited e... |
OMIM:258315 |
| Ck Syndrome |
|
Slender build, Joint hypermobility, Abnormal cortical bone morphology, Abnormal digit morphology,... |
OMIM:300831 |
| Osteogenesis Imperfecta, Type Ix |
|
Pectus carinatum, Decreased calvarial ossification, Pectus excavatum, Recurrent fractures, Beaded... |
OMIM:259440 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Craniosynostosis, Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Spli... |
OMIM:609945 |
| Nestor-Guillermo Progeria Syndrome |
|
Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Osteolysis, Flexion contrac... |
OMIM:614008 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Femoral bowing, Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic rickets,... |
OMIM:307800 |
| Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Hyperactivity |
OMIM:613402 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur |
OMIM:228250 |
| Blount Disease |
|
Abnormality of the knee, Abnormality of the tibial metaphysis, Abnormality of the proximal tibial... |
ORPHA:2768 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Rickets, ... |
OMIM:241530 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density |
OMIM:241520 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Subperiosteal bone resorption, Enam... |
OMIM:264700 |
| Weismann-Netter Syndrome |
|
Squared iliac bones, Fibular bowing, Calvarial hyperostosis, Anterior tibial bowing, Lateral femo... |
OMIM:112350 |
| Aromatase Deficiency |
|
Osteoporosis, Genu valgum, Insulin resistance, Hypergonadotropic hypogonadism, Primary amenorrhea... |
ORPHA:91 |
| Occipital Horn Syndrome |
|
Large iliac wing, Pes planus, Abnormality of fibula morphology, Aplastic clavicle, Osteoporosis, ... |
ORPHA:198 |
| Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Blind vagina, Azoospermia, Aplasia of the ovary, Urogenital sinus anomaly, B... |
ORPHA:90797 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Narrow iliac wing, Mesomelia, Glenoid fossa hy... |
ORPHA:85170 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Superior rib anomalies, Male hypogonadism |
OMIM:307500 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Subperiosteal bone resorption, Enam... |
OMIM:277440 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Rickets, ... |
OMIM:300554 |
| Achondrogenesis Type 1A |
|
Short thorax, Narrow chest, Abnormal enchondral ossification, Recurrent fractures, Umbilical hern... |
ORPHA:93299 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Narrow chest, Omphalocele, Decreased skull ossification, Abnormalit... |
ORPHA:93267 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Azoospermia |
OMIM:300985 |
| Dyggve-Melchior-Clausen Disease |
|
Iliac crest serration, Hyperactivity, Limited elbow extension, Genu valgum, Rhizomelia, Short lon... |
ORPHA:239 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... |
OMIM:608612 |
| Diethylstilbestrol Syndrome |
|
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... |
ORPHA:1916 |
| Hyperparathyroidism, Transient Neonatal |
|
Thin ribs, Osteopenia, Short ribs, Narrow chest |
OMIM:618188 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Immotile sperm |
OMIM:614874 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metatarsal, Short phalanx of finger, Cone-shaped epiphysis, Short metacarpal, Hyperactivity... |
OMIM:614613 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Hypoplasia of the radius, Hip subluxation, Short phalanx of finger, Microretrognathia, Mesomelia,... |
OMIM:268305 |
| Juvenile Huntington Disease |
|
Dystonia, Gait ataxia, Ataxia, Weight loss, Bradykinesia, Progressive cerebellar ataxia, Hyperact... |
ORPHA:248111 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Omphalocele, Interphalangeal joint con... |
ORPHA:96334 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity |
OMIM:618090 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Arthrogryposis multiplex congenita, Joint contracture of the 5th finger, Congenital contracture, ... |
ORPHA:352490 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Bowing of the long bones, Omphalocele, Tibial bowing, Abnormally ossified vertebra... |
ORPHA:3035 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the radius, Talipes, Hypoplasia of the ulna, Fibular hypoplasia, Small for gestatio... |
OMIM:227270 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
| Sotos Syndrome 3 |
|
Hyperactivity |
OMIM:617169 |
| Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Cone-shaped epiphyses of... |
ORPHA:397973 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormality of tibia morphology, Synostosis of carpal bones, Hypoplasia of the ulna, Fibular hypo... |
ORPHA:2634 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Decreased calvarial ossification, Preaxial polydactyly, Postaxial polydactyly, Hypoplastic pubic ... |
OMIM:617925 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Gait ataxia, Hyperinsulinemia, Insulin resistance, Reduced intraabdominal adipose tissue, Ataxia,... |
ORPHA:363400 |
| Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Limited elbow extension, Hyperostosis, Thin ribs, Asymmetry of the thorax, Increased susceptibili... |
OMIM:604922 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Mesomelic arm shortening, Short 2nd metacarpal, Radioulnar synostosis, Split hand, Short humerus,... |
OMIM:171480 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Joint hyperflexibility, Umbilical hernia, Reduced bone mineral density, ... |
ORPHA:1488 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Lateral clavicle hook, Narrow chest, Bell-shaped thorax, Horizontal ribs, Thoracic dysplasia, Obe... |
OMIM:615633 |
| Ck Syndrome |
|
Slender build, Joint hypermobility, Microretrognathia, Long toe, Hyperactivity, Long fingers |
ORPHA:251383 |
| Dent Disease 1 |
|
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Rickets, ... |
OMIM:300009 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoporosis, Synostosis of carpal bones, Pectus carinatum, Abnormality of the ribs, Osteoarthrit... |
ORPHA:93351 |
| Dyggve-Melchior-Clausen Disease |
|
Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Pes planus, Iliac crest serration, Flat ... |
OMIM:223800 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Cryptorchidism, Abnormal internal genitalia, Female external genitalia in individual with 46,XY k... |
ORPHA:251510 |
| Mandibuloacral Dysplasia |
|
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... |
ORPHA:2457 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Talipes equinovarus, Absent tibia, Preaxial polydactyly, Cone-shaped epiphysis, Postaxial polydac... |
OMIM:613091 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Failure to thrive, Hyperactivity |
OMIM:274270 |
| Eiken Syndrome |
|
Delayed ossification of carpal bones, Broad metatarsal, Short middle phalanx of finger, Decreased... |
OMIM:600002 |
| Mosaic Trisomy 14 |
|
Abnormality of the ribs, Camptodactyly of finger, Narrow chest, Failure to thrive |
ORPHA:1703 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short finger, Metaphyseal cuppin... |
OMIM:608940 |
| Hydrocephalus With Associated Malformations |
|
Omphalocele, Tibial bowing, Lower limb undergrowth, Short lower limbs, Micrognathia, Abnormal foo... |
OMIM:236640 |
| Spermatogenic Failure 15 |
|
Non-obstructive azoospermia |
OMIM:616950 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Supernumerary vertebral ossification centers, Rib fusion |
OMIM:609813 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of the ribs, Joint hyperflexibility, Decreased calvarial ossification, Recurrent frac... |
ORPHA:2772 |
| Shox-Related Short Stature |
|
Genu valgum, Ulnar radial head dislocation, Tibial bowing, Forearm undergrowth, Lower limb underg... |
ORPHA:314795 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Enamel hypoplasia, Subperiosteal bone resorption, Rickets, Difficulty ... |
ORPHA:289157 |
| Achondrogenesis, Type Ia |
|
Abnormal hand bone ossification, Barrel-shaped chest, Hypoplastic scapulae, Beaded ribs, Short ri... |
OMIM:200600 |
| Fraxe Intellectual Disability |
|
Clinodactyly of the 5th finger, Hyperactivity |
ORPHA:100973 |
| Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia, Craniosynostosis |
OMIM:218550 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Gait ataxia, Joint laxity, Pes planus, Short foot, Sandal gap, Small hand, Pes cavus, Abdominal o... |
OMIM:300354 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Decreased fertility, Abnormality of the ribs, Hypogonadism, Eunuchoid habitus, Obesity |
ORPHA:2234 |
| Mental Retardation, Autosomal Dominant 43 |
|
Tapered finger, Hyperactivity |
OMIM:616977 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Ataxia, Hyperactivity |
OMIM:615924 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal morphology of female internal genitalia, Blind vagina, Bilateral cryptorchidism, Aplasia... |
ORPHA:99429 |
| Hypophosphatasia |
|
Craniosynostosis, Narrow chest, Recurrent fractures, Failure to thrive in infancy, Abnormality of... |
ORPHA:436 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity |
OMIM:301013 |
| Otospondylomegaepiphyseal Dysplasia |
|
Dumbbell-shaped femur, Abnormality of long bone morphology, Short phalanx of finger, Abnormal pel... |
ORPHA:1427 |
| Acheiropodia |
|
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... |
ORPHA:931 |
| 8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia, Hyperactivity |
DECIPHER:39 |
| Osteogenesis Imperfecta, Type Ii |
|
Broad long bones, Recurrent fractures, Absent ossification of calvaria, Crumpled long bones, Tibi... |
OMIM:166210 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormality of the ribs, Recurrent fractures, Limitation of joint mobility, Abnormal cortical bon... |
ORPHA:1486 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Polydactyly, Absent tibia |
OMIM:188740 |
| Clark-Baraitser Syndrome |
|
Sandal gap, Clinodactyly, Hyperactivity, Obesity |
OMIM:617752 |
| Coffin-Siris Syndrome 7 |
|
Hyperactivity, Clinodactyly, Brachydactyly, Sagittal craniosynostosis |
OMIM:618027 |
| Jeune Syndrome |
|
Abnormal clavicle morphology, Short thorax, Narrow chest, Abnormal sternum morphology, Abnormalit... |
ORPHA:474 |
| Hyperprolinemia, Type I |
|
Ataxia, Hyperactivity |
OMIM:239500 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Amenorrhea, Irregular menstruation, Hypoplasia of the uterus, Female infertility, Premature ovari... |
OMIM:110100 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Absent tibia, Preaxial foot polydactyly, Mirror image foot polydactyly, Patellar hypoplasia, Bila... |
OMIM:119800 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Short thorax, Rib fusion, Vertebral fusion, Abnormality of the ribs, Block vertebrae, Missing ribs |
OMIM:613686 |
| Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Beaded ribs, Small for gestational age, Joint hypermobility |
OMIM:616229 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Abnormality of the ribs, Joint hypermobility, Pectus excavatum, Hypoplastic distal segments of sc... |
OMIM:602196 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Clinodactyly of the 5th finger, ... |
ORPHA:3320 |
| Coffin-Siris Syndrome 8 |
|
Failure to thrive, Hyperactivity |
OMIM:618362 |
| Glycine Encephalopathy |
|
Lethargy, Hyperactivity |
OMIM:605899 |
| Alazami-Yuan Syndrome |
|
Broad hallux, Hyperactivity |
OMIM:617126 |
| Ciliary Dyskinesia, Primary, 14 |
|
Reduced sperm motility, Absent inner dynein arms, Immotile sperm, Abnormal axonemal organization ... |
OMIM:613807 |
| 47,Xyy Syndrome |
|
Cryptorchidism, Azoospermia, Oligospermia, Macroorchidism, Hypospadias, Male infertility, Micrope... |
ORPHA:8 |
| Orofaciodigital Syndrome Type 2 |
|
Postaxial hand polydactyly, Y-shaped metacarpals, Adactyly, Complete duplication of hallux phalan... |
ORPHA:2751 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Hyperactivity |
OMIM:300983 |
| Rubinstein-Taybi Syndrome 2 |
|
Broad thumb, Broad hallux, Syndactyly, Hyperactivity, Micrognathia |
OMIM:613684 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormality of the ribs, Narrow chest |
ORPHA:1354 |
| Otopalatodigital Syndrome, Type Ii |
|
Nonossified fifth metatarsal, Broad thumb, Congenital hip dislocation, Short metatarsal, Omphaloc... |
OMIM:304120 |
| Diastrophic Dwarfism |
|
Abnormal clavicle morphology, Camptodactyly of finger, Joint hyperflexibility, Increased bone min... |
ORPHA:628 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Enamel hypoplasia, Short distal phalanx of finger, Type II diabetes mellitus, Ulnar bowing, Narro... |
OMIM:210720 |
| Mental Retardation, Autosomal Recessive 61 |
|
Talipes equinovarus, Tapered finger, Pes cavus, Hyperactivity |
OMIM:617773 |
| Melnick-Needles Syndrome |
|
Short thorax, Narrow chest, Craniofacial hyperostosis, Joint hyperflexibility, Omphalocele, Abnor... |
ORPHA:2484 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Decreased calvarial ossification, Recurrent fractures, Severe generalized os... |
OMIM:259420 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Toe syndactyly, Broad-based gait, Joint hyperflexibility, Down-sloping s... |
ORPHA:85293 |
| Microphthalmia With Limb Anomalies |
|
Postaxial hand polydactyly, Fused fourth and fifth metacarpals, Toe syndactyly, Foot oligodactyly... |
OMIM:206920 |
| Gand Syndrome |
|
Hyperactivity, Long toe, Long fingers |
OMIM:615074 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Abnormality of the ribs, Osteopenia, Camptodactyly, Failure to thrive in infancy |
OMIM:611209 |
| Oncogenic Osteomalacia |
|
Abnormality of the tarsal bones, Abnormal pelvis bone morphology, Gait disturbance, Fibrous dyspl... |
ORPHA:352540 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Arthrogryposis multiplex congenita, Thin ribs, Craniosynostosis, Decreased body weight |
OMIM:618265 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint hypermobility, Joint laxity, Recurrent fractures, Umbilical hernia, Thin ribs, Generalized ... |
OMIM:617952 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Pes planus, Sandal gap, Clinodactyly, Small hand, Short foot, Hyperactivity, Tapered finger |
OMIM:618089 |
| Osteogenesis Imperfecta, Type Viii |
|
Radial bowing, Joint laxity, Externally rotated/abducted legs, Recurrent fractures, Tibial bowing... |
OMIM:610915 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity |
OMIM:248510 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... |
OMIM:113310 |
| Ulnar/Fibular Ray Defect And Brachydactyly |
|
Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Lower limb asymmetry, Bilateral talip... |
OMIM:608571 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Lower limb asymmetry, Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic ric... |
ORPHA:289176 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Joint hypermobility, 2-3 toe syndactyly, Hernia, Hyperactivity, Talipes equinovarus, Hypogonadism... |
ORPHA:3306 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Pectus carinatum, Abnormality of the ribs, Limitation of joint mobilit... |
ORPHA:3068 |
| Tibia, Absence Of, With Congenital Deafness |
|
Absent tibia |
OMIM:275230 |
| Chromosome 2Q37 Deletion Syndrome |
|
Short metatarsal, Short phalanx of finger, Short metacarpal, Short toe, Hyperactivity, Obesity |
OMIM:600430 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Postaxial hand polydactyly, Mesomeli... |
OMIM:263520 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Thoracic hypoplasia, Beaded ribs, Flexion contracture, Short ribs, Fractured radius, Multiple pre... |
OMIM:616897 |
| Campomelic Dysplasia |
|
Talipes equinovarus, Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Hypoplas... |
OMIM:114290 |
| Isolated Klippel-Feil Syndrome |
|
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Ab... |
ORPHA:2345 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteolysis, Periostitis, Broad ribs, Flaring of rib cage, Failure to thrive in infancy, Osteopeni... |
OMIM:612852 |
| Mend Syndrome |
|
Overlapping fingers, Overlapping toe, Polydactyly, Microretrognathia, 2-3 toe syndactyly, Hyperac... |
OMIM:300960 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Arthrogryposis multiplex congenita, Short ribs, Interphalangeal joint contracture of finger, Knee... |
ORPHA:1145 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Unsteady gait, Failure to thrive, Hyperactivity, Abnormal foot morphology, Broad-based gait |
OMIM:617865 |
| Atelosteogenesis, Type I |
|
Radial bowing, Club-shaped proximal femur, Fibular aplasia, Short femur, Short metatarsal, Rhizom... |
OMIM:108720 |
| Renpenning Syndrome |
|
Pectus excavatum, Sprengel anomaly, Joint stiffness, Cachexia, Abnormality of the ribs |
ORPHA:3242 |
| Seckel Syndrome 1 |
|
Enamel hypoplasia, Dislocated radial head, Hypoplasia of proximal fibula, Talipes, Pes planus, Ab... |
OMIM:210600 |
| Chromosome 15Q25 Deletion Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Hyperactivity, Attention deficit hyperactivity ... |
OMIM:614294 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormality of the ribs, Abnormal clavicle morphology |
ORPHA:276422 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Thin ribs, Decreased skull ossification, Calvarial os... |
ORPHA:93324 |
| Mental Retardation, Autosomal Recessive 39 |
|
Hyperactivity |
OMIM:615541 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pseudoarthrosis |
OMIM:607278 |
| Mucopolysaccharidosis Type 4 |
|
Short thorax, Abnormal dental enamel morphology, Pectus carinatum, Joint hyperflexibility, Grayis... |
ORPHA:582 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Abnormality of the ribs, Short thorax, Posterior rib fusion, Missing ribs |
ORPHA:1797 |
| Ulna And Fibula, Hypoplasia Of |
|
Fibular hypoplasia, Hypoplasia of the ulna |
OMIM:191400 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Abnormality of the ribs, Craniosynostosis |
ORPHA:2145 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormality of the ribs, Azoospermia |
ORPHA:2578 |
| Becker Nevus Syndrome |
|
Pectus carinatum, Pectus excavatum, Lipoatrophy, Rib fusion, Supernumerary ribs |
ORPHA:64755 |
| Thoracolaryngopelvic Dysplasia |
|
Slender build, Horizontal ribs, Bell-shaped thorax, Short ribs, Irregular chondrocostal junctions |
OMIM:187760 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Broad-based gait, Ataxia, Obesity |
ORPHA:411515 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Hypoplastic inferior ilia, Bowing of the long bones, Recurren... |
ORPHA:140 |
| Fibrochondrogenesis 1 |
|
Posterior vertebral hypoplasia, Rhizomelia, Camptodactyly, Hypoplastic scapulae, Broad long bones... |
OMIM:228520 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thin ribs, Decreased cranial base ossification, Short ribs, Narrow chest |
OMIM:151210 |
| 13Q12.3 Microdeletion Syndrome |
|
Hip dysplasia, Camptodactyly, Hemihypotrophy of lower limb, Congenital diaphragmatic hernia, Fail... |
ORPHA:412035 |
| Lennox-Gastaut Syndrome |
|
Falls, Hyperactivity |
ORPHA:2382 |
| 19P13.3 Microduplication Syndrome |
|
Osteoporosis, Hip dysplasia, Hip subluxation, Clinodactyly, Pes cavus, Hyperactivity, Hip disloca... |
ORPHA:447980 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia, Coxa valga |
OMIM:164900 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Ovarian cyst, Male hypogonadism, Blind vagina, Ambiguous genitalia, male, Bifid scrotum, Irregula... |
ORPHA:90793 |
| 46,Xx Sex Reversal 2 |
|
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... |
OMIM:278850 |
| Cole-Carpenter Syndrome 2 |
|
Lambdoidal craniosynostosis, Pectus excavatum, Dentinogenesis imperfecta, Thin ribs, Coronal cran... |
OMIM:616294 |
| Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Optic Atrophy 11 |
|
Dysmetria, Ataxia, Hyperactivity |
OMIM:617302 |
| Geroderma Osteodysplasticum |
|
Osteoporosis, Camptodactyly, Recurrent fractures, Tibial bowing, Increased susceptibility to frac... |
OMIM:231070 |
| Achondrogenesis, Type Ii |
|
Horizontal ribs, Barrel-shaped chest, Absent vertebral body mineralization, Short ribs |
OMIM:200610 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Joint laxity, Broad-based gait, Hyperactivity |
ORPHA:457260 |
| Cousin Syndrome |
|
Dislocated radial head, 4-5 toe syndactyly, Fibular aplasia, Toe syndactyly, Rhizomelia, Camptoda... |
OMIM:260660 |
| Acro-Renal-Mandibular Syndrome |
|
Rudimentary fibula, Hypoplasia of the radius, Finger syndactyly, Split hand, Hypoplastic scapulae... |
ORPHA:958 |
| White Forelock With Malformations |
|
Abnormality of the ribs, Joint hyperflexibility, Sprengel anomaly |
ORPHA:2475 |
| Otopalatodigital Syndrome Type 2 |
|
Short hallux, Camptodactyly of finger, Fibular aplasia, Tarsal synostosis, Synostosis of carpal b... |
ORPHA:90652 |
| Bone Marrow Failure Syndrome 3 |
|
Enamel hypoplasia, Joint hypermobility, Amelogenesis imperfecta, Congenital hip dislocation, Redu... |
OMIM:617052 |
| Fibrochondrogenesis |
|
Camptodactyly of finger, Broad ribs, Narrow chest, Hypoplastic scapulae, Bell-shaped thorax, Omph... |
ORPHA:2021 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormality of the ribs, Pectus excavatum, Fused cervical vertebrae, Abnormal clavicle morphology |
ORPHA:2522 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Abnormality of the ribs, Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones |
ORPHA:1836 |
| Dysosteosclerosis |
|
Sclerosis of hand bone, Broad ribs, Narrow chest, Short sternum, Short ribs, Clavicular sclerosis... |
OMIM:224300 |
| Kenny-Caffey Syndrome, Type 1 |
|
Thin ribs, Decreased skull ossification, Calvarial osteosclerosis, Long clavicles, Thin clavicles |
OMIM:244460 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormality of the ribs, Enamel hypoplasia |
ORPHA:2643 |
| Mucopolysaccharidosis, Type Iiia |
|
Joint stiffness, Dense calvaria, Hyperactivity |
OMIM:252900 |
| Osteogenesis Imperfecta, Type X |
|
Broad ribs, Joint laxity, Narrow chest, Generalized joint laxity, Dentinogenesis imperfecta, Thin... |
OMIM:613848 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Thin ribs, Decreased skull ossification, 11 pairs of ribs |
OMIM:300863 |
| Primary Ciliary Dyskinesia |
|
Female infertility, Abnormal sperm motility, Male infertility |
ORPHA:244 |
| Mental Retardation, Autosomal Dominant 7 |
|
Gait disturbance, Failure to thrive in infancy, Ataxia, Small for gestational age, Hyperactivity,... |
OMIM:614104 |
| Mental Retardation, Autosomal Recessive 13 |
|
Truncal obesity, Hyperactivity |
OMIM:613192 |
| X-Linked Hypophosphatemia |
|
Craniosynostosis, Cellulitis, Rickets, Beaded ribs, Generalized osteosclerosis, Enthesitis, Odont... |
ORPHA:89936 |
| Fragile X Syndrome |
|
Pes planus, Joint laxity, Hyperactivity |
OMIM:300624 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormality of the ribs, Sprengel anomaly, Abnormal dental enamel morphology, Obesity |
ORPHA:2180 |
| Mental Retardation, Autosomal Recessive 38 |
|
Hyperactivity, Unsteady gait, Sandal gap |
OMIM:615516 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Ataxia, Hyperactivity |
OMIM:612716 |
| Mucopolysaccharidosis, Type Iiic |
|
Hernia, Joint stiffness, Dense calvaria, Hyperactivity |
OMIM:252930 |
| Cat-Eye Syndrome |
|
Abnormality of the ribs |
ORPHA:195 |
| Antley-Bixler Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Narrow chest, Recurrent fractures, Elbow ankylosis, Jo... |
ORPHA:83 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Radioulnar synostosis, Finger syndactyly, Microretrognathia, Aplasia/Hypoplasia of the radius, Fi... |
ORPHA:1788 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Shuffling gait, Obesity |
ORPHA:3077 |
| Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormality of the ribs, Osteolysis, Patchy reduction of bone miner... |
ORPHA:249 |
| Prune Belly Syndrome |
|
Abnormality of the ribs, Decreased fertility, Pectus excavatum, Failure to thrive |
ORPHA:2970 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Abnormality of the ribs, Sprengel anomaly, Azoospermia |
OMIM:601076 |
| 19P13.12 Microdeletion Syndrome |
|
Arthrogryposis multiplex congenita, Craniosynostosis, Finger syndactyly, Deep plantar creases, Sa... |
ORPHA:254346 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Lateral clavicle hook, Narrow chest, Thoracic hypoplasia, Horizontal ribs, Omphalocele, Short ribs |
OMIM:617895 |
| 3M Syndrome |
|
Short thorax, Scapular winging, Abnormal dental enamel morphology, Enlarged thorax, Joint hyperfl... |
ORPHA:2616 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Broad ribs, Thin bony cortex, Increased bone mineral density |
ORPHA:85184 |
| Osteogenesis Imperfecta, Type Xv |
|
Thin ribs, Joint hypermobility, Recurrent fractures, Bowing of limbs due to multiple fractures |
OMIM:615220 |
| Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Short ribs |
OMIM:173800 |
| 2Q23.1 Microdeletion Syndrome |
|
Hip dysplasia, Ataxia, Sandal gap, Hyperactivity, Clinodactyly of the 5th finger, Short palm |
ORPHA:228402 |
| Cri-Du-Chat Syndrome |
|
Short metatarsal, Microretrognathia, Pes planus, Difficulty walking, Metatarsus adductus, Syndact... |
OMIM:123450 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Cryptorchidism, Decreased fertility in females, Ambiguous genitalia, male, Hypergonadotropic hypo... |
ORPHA:90796 |
| Orofaciodigital Syndrome X |
|
Fibular aplasia, Preaxial hand polydactyly, Hand oligodactyly, Coalescence of tarsal bones |
OMIM:165590 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Absent thumb, Failure to thrive, Hyperactivity |
OMIM:619239 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the radius, Rudimentary fibula, Hand polydactyly, Toe syndactyly, Split hand, Hypop... |
OMIM:200980 |
| Chromosome 10Q26 Deletion Syndrome |
|
Limited elbow extension, Craniosynostosis, Toe syndactyly, Radial deviation of finger, Clinodacty... |
OMIM:609625 |
| Landau-Kleffner Syndrome |
|
Steppage gait, Gait ataxia, Attention deficit hyperactivity disorder, Hyperactivity |
ORPHA:98818 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Pes planus, Progressive cerebellar ataxia, Unsteady gait, Inguinal hernia, Hyperactivity |
ORPHA:485350 |
| Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Radioulnar synostosis, Pectus excavatum, Sprengel anomaly, Down-slo... |
ORPHA:392 |
| Kyphomelic Dysplasia |
|
Radial bowing, Short femur, Micrognathia, Dumbbell-shaped humerus, Short humerus, Tibial bowing, ... |
OMIM:211350 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Generalized bone demineralization, Abnormal bone ossification, Narrow chest, Abnormal thorax morp... |
ORPHA:73230 |
| Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Scapular winging, Partial fusion of tarsals, Partial fusion of carpals, ... |
OMIM:305620 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Joint hypermobility, Abnormal bone ossification, Pectus excavatum, Thin ribs, Loss of truncal sub... |
ORPHA:2463 |
| Lamb-Shaffer Syndrome |
|
Hip dysplasia, Ataxia, Hyperactivity, Micrognathia, Fused cervical vertebrae |
ORPHA:530983 |
| Intellectual Disability, Birk-Barel Type |
|
Congenital finger flexion contractures, Limited elbow flexion/extension, Contractures involving t... |
ORPHA:166108 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormality of the ribs, Joint hyperflexibility, Missing ribs |
ORPHA:2759 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral fusion, Block vertebrae, Rib fusion |
OMIM:277300 |
| Mucopolysaccharidosis, Type Iiib |
|
Joint stiffness, Dense calvaria, Hyperactivity |
OMIM:252920 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Short thorax, Rib segmentation abnormalities, Rib fusion, Umbilical hern... |
ORPHA:2311 |
| Schneckenbecken Dysplasia |
|
Advanced tarsal ossification, Hypoplastic scapulae, Hypoplastic ilia, Dumbbell-shaped long bone, ... |
ORPHA:3144 |
