Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Caudal Appendage-Deafness Syndrome |
|
Cryptorchidism, Abnormal digit morphology, Caudal appendage |
ORPHA:1123 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
7P22.1 Microduplication Syndrome |
|
Cryptorchidism |
ORPHA:314034 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Oeis Complex |
|
Congenital hip dislocation, Epispadias, Ambiguous genitalia, female, Hemivertebrae, Anteriorly pl... |
OMIM:258040 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614840 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism |
OMIM:274205 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Rocker bottom foot, Short neck, Micrognathia, Cryptorchidism, Kyphosis, High pa... |
OMIM:618393 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... |
ORPHA:1145 |
Three M Syndrome 1 |
|
Joint dislocation, Scapular winging, Hypospadias, Short neck, Hyperlordosis, Increased vertebral ... |
OMIM:273750 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Halberd-shaped pelvis, Narr... |
OMIM:156530 |
Prieto Syndrome |
|
11 pairs of ribs, Inguinal hernia, Coxa valga, Cryptorchidism, Patellar subluxation, Patellar dis... |
OMIM:309610 |
Gordon Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Pectus excavatum, Cryptorchidism, Cleft palate, High ... |
ORPHA:376 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypoplasia of penis, Small scrotum, Short neck, Abnormality of the thyroid gland, Hemivertebrae, ... |
ORPHA:2234 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... |
OMIM:615542 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Thin ribs, Blind vagina, High palate, Micro... |
ORPHA:456328 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... |
ORPHA:753 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... |
ORPHA:168549 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Coxa vara, Pectus carinat... |
OMIM:613330 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Tapered finger, Cryptorchidism, Hypogonadism, Micropenis |
ORPHA:85274 |
Bowen-Conradi Syndrome |
|
Camptodactyly of finger, Rocker bottom foot, Micrognathia, Cryptorchidism, Clinodactyly of the 5t... |
ORPHA:1270 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Hao-Fountain Syndrome |
|
Hallux valgus, Cryptorchidism, Clinodactyly of the 5th finger, Premature adrenarche, Micropenis, ... |
OMIM:616863 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Spina bifida o... |
ORPHA:1797 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... |
OMIM:146110 |
X-Linked Intellectual Disability, Siderius Type |
|
Preaxial hand polydactyly, Cryptorchidism, Decreased testicular size, Scoliosis |
ORPHA:85287 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Short foot, Cryptorchidism, Tapered finger |
OMIM:309585 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Supernumerary nipple, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, Congen... |
ORPHA:2519 |
N Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:2608 |
Paternal Uniparental Disomy Of Chromosome X |
|
Short metacarpal, Short neck, Shield chest, Infertility, Cubitus valgus, Micropenis, Decreased te... |
ORPHA:261524 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short neck, Abnormal rib morphology, Azoospermia, Vertebral segmentation defect, Bicornuate uteru... |
ORPHA:2578 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Hypoplastic ischia, Short neck, Bowing of the legs, Cryptorchidism, Hypoplastic... |
ORPHA:1865 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Mosaic Trisomy 14 |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short neck, Micrognathia, Cryptorchidi... |
ORPHA:1703 |
Becker Nevus Syndrome |
|
Supernumerary nipple, Micromelia, Pectus excavatum, Kyphosis, Hypoplastic labia minora, Abnormal ... |
ORPHA:64755 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Lateral clavicle... |
OMIM:617895 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
3Q13 Microdeletion Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Narrow chest, Short neck |
ORPHA:1621 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Cryptorchidism |
ORPHA:1074 |
Ellis-Van Creveld Syndrome |
|
Hypospadias, Epispadias, Cryptorchidism, Capitate-hamate fusion, Postaxial hand polydactyly, Pect... |
OMIM:225500 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Optic nerve hypoplasia, Short neck, Micrognathia, Cryptorchidism, Hypoplastic labia ... |
ORPHA:495875 |
Pseudovaginal Perineoscrotal Hypospadias |
|
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Perineal hypospadias, Ambiguo... |
OMIM:264600 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Short neck, Lateral ... |
ORPHA:3144 |
Thoracomelic Dysplasia |
|
Hyperlordosis, Short neck, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shape... |
ORPHA:1803 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Pectus c... |
OMIM:224690 |
Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislocation, Cleft pala... |
OMIM:241800 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... |
OMIM:617405 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Autosomal Dominant Omodysplasia |
|
Bifid scrotum, Short humerus, Hypoplasia of penis, Rhizomelia, Micrognathia, Elbow dislocation, C... |
ORPHA:93328 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Abnormality of the cervical spine, Hypergonadotropic hypogonadism, Superior ri... |
OMIM:307500 |
Isolated Hemihyperplasia |
|
Cryptorchidism, Asymmetry of the thorax, Scoliosis |
ORPHA:2128 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome |
|
Cryptorchidism |
ORPHA:1568 |
Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Tapered finger, Cryptorchidism, Kyphosis, Shor... |
OMIM:301900 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Short femur, Hypospadias, Fractured radius, Beaded ribs, Short neck, Decr... |
OMIM:616897 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Small scrotum, Hypospadias, Short femur, Sandal gap, Rhizomelia, Cryptorchidism, H... |
OMIM:607143 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism, Glandular hyposp... |
OMIM:300219 |
Polydactyly-Myopia Syndrome |
|
Cryptorchidism |
ORPHA:2917 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Increased intervertebral space, Thoracic platyspondyly, Met... |
OMIM:618961 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Proximal placement of thumb, Cryptorchidism, Kyphosis, High palate, Shawl scrotum, Micropenis, De... |
OMIM:615433 |
Arthrogryposis, Distal, Type 1C |
|
Hip contracture, Shoulder flexion contracture, Rocker bottom foot, Short neck, Camptodactyly of f... |
OMIM:619110 |
Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Small hand, Short foot, Hypogonadism, Decreased testicular size |
ORPHA:261483 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy... |
OMIM:613091 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, S... |
OMIM:616300 |
Cree Mental Retardation Syndrome |
|
Bifid scrotum, Aplasia/Hypoplasia of the ribs, Hypospadias, Cleft soft palate, Rocker bottom foot... |
OMIM:606851 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, Bell-shaped thorax, Short long bone... |
OMIM:615633 |
Femoral-Facial Syndrome |
|
Maternal diabetes, Micrognathia, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of ... |
ORPHA:1988 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Syndactyly, Inguinal hernia, Hypospadias, Dysmenorrhea, Micrognathia, Cryptorchidi... |
ORPHA:397590 |
Seckel Syndrome 5 |
|
11 pairs of ribs, Hypospadias, Micrognathia, Cryptorchidism, Cleft palate, High palate, Short mid... |
OMIM:613823 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Inguinal hernia, Coxa valga, Cryptorchidism, Finger clinodactyly, Patellar subluxation, Supernume... |
ORPHA:2958 |
Fibrochondrogenesis 2 |
|
Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti... |
OMIM:614524 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Short neck, Micrognathia, Short palm, Clinodactyly of the 5th finger, Micropenis, Broad hallux, C... |
OMIM:620073 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Absent external genitalia, Missin... |
OMIM:271520 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Intellectual Disability, Wolff Type |
|
Microretrognathia, Inguinal hernia, Hypospadias, Camptodactyly of finger, Cryptorchidism, Abnorma... |
ORPHA:3080 |
Boomerang Dysplasia |
|
Omphalocele, Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius,... |
ORPHA:1263 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Vertebral segmentat... |
ORPHA:2911 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Small scrotum, Hypospadias, Absent sternal ossification, Aplasia/Hypoplasia of... |
OMIM:613803 |
Bent Bone Dysplasia Syndrome 2 |
|
Bowed humerus, Short neck, Hypoplastic iliac wing, Ulnar bowing, Thin ribs, Femoral bowing, Coron... |
OMIM:620076 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Aplasia/Hypoplasia of the fibula,... |
ORPHA:2256 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
Ruvalcaba Syndrome |
|
Inguinal hernia, Short metacarpal, Micromelia, Cryptorchidism, Kyphosis, Limited elbow extension,... |
OMIM:180870 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Ovoid vertebral bodies, Anterior rib cupping, Short neck, Lateral clavicle ... |
OMIM:269250 |
Aarskog-Scott Syndrome |
|
Short palm, Finger syndactyly, Inguinal hernia, Genu recurvatum, Camptodactyly of finger, Short n... |
ORPHA:915 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Hypospadias, Bowing of the long bones, Postaxial... |
OMIM:614091 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
Scarf Syndrome |
|
Bifid scrotum, Inguinal hernia, Craniosynostosis, Short neck, Cryptorchidism, Abnormal form of th... |
ORPHA:3134 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... |
OMIM:228520 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis, Pseudoarthrosis |
OMIM:618155 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... |
OMIM:187760 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... |
OMIM:151210 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r... |
OMIM:173800 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Septo-optic dysplasia, Multicystic kidney dysplasia, Missing ribs,... |
ORPHA:3301 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro... |
ORPHA:1350 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... |
ORPHA:93296 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Bifid scrotum, Finger syndactyly, Small scrotum, Toe syndactyly, Micrognathia, Cryptorchidism, Sp... |
ORPHA:1300 |
Isolated Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Cryptorchidism, Scoliosis, Hyperlordosis |
ORPHA:408 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, External genital hypoplasia, Cryptorchidism, Renal cyst, Hypogonadism, Polydactyly, B... |
OMIM:615982 |
Weaver Syndrome |
|
Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing, Prominent fingertip pa... |
OMIM:277590 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Fetal Minoxidil Syndrome |
|
Clinodactyly of the 5th finger, Cryptorchidism, Micrognathia |
ORPHA:1918 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Micrognathia, Abnormal rib morphology, Cleft palate, Hypoplasia of the uterus, Azoospermia, Bicor... |
OMIM:601076 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... |
ORPHA:752 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Microgn... |
ORPHA:628 |
Craniofrontonasal Dysplasia |
|
Abnormal clavicle morphology, Finger syndactyly, Broad hallux phalanx, Hypospadias, Down-sloping ... |
ORPHA:1520 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
Caudal Regression Syndrome |
|
Maternal diabetes, Missing ribs, Cryptorchidism, Aplasia/Hypoplasia of the sacrum, Abnormal iliac... |
ORPHA:3027 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Rocker bottom foot, Micrognathia, Short neck, Cryptorchidism, Optic atrophy |
OMIM:618766 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Inguinal hernia, Hypospadias, Facial palsy, Micrognathia, Cryptorchidism, Decreased compound musc... |
OMIM:301830 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Short neck, Bilateral cryptorchidism, Short palm, Syndac... |
OMIM:305400 |
Stankiewicz-Isidor Syndrome |
|
Sacral dimple, Hypospadias, Absent thumb, Micrognathia, Cryptorchidism, Short thumb, 2-3 toe synd... |
OMIM:617516 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Inguinal hernia, Unilateral cryptorchidism, Bilateral cryptorchidism, ... |
ORPHA:457083 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, S... |
ORPHA:1772 |
Endocardial Fibroelastosis |
|
Hypoplasia of penis, Sandal gap, Micrognathia, Cryptorchidism, Anterior hypopituitarism |
ORPHA:2022 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Cryptorchidism, Esophageal atresia, Hemiverte... |
ORPHA:77298 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Short neck, Metatarsus valgus, Cryptor... |
ORPHA:3082 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... |
ORPHA:3268 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Microcephaly 16, Primary, Autosomal Recessive |
|
Knee flexion contracture, Cryptorchidism, Micrognathia, Adducted thumb |
OMIM:616681 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Micromelia, Short neck, Wide distal femoral metaphysis, Delayed epiphyseal... |
OMIM:613320 |
Scarf Syndrome |
|
Bifid scrotum, Barrel-shaped chest, Inguinal hernia, Short neck, Cryptorchidism, Abnormal form of... |
OMIM:312830 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydacty... |
OMIM:615503 |
Vacterl/Vater Association |
|
Bifid scrotum, Omphalocele, Hypoplasia of penis, Abnormal intervertebral disk morphology, Hypospa... |
ORPHA:887 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Genu varum, Fibula... |
OMIM:602557 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Cryptorchidism, Kyphosis, Bell-shaped thorax, High palate, Scoliosis, Clinodactyly |
ORPHA:178148 |
Achondrogenesis, Type Ib |
|
Inguinal hernia, Micromelia, Hypoplastic ilia, Narrow chest, Short ribs, Absent or minimally ossi... |
OMIM:600972 |
Acrofacial Dysostosis, Catania Type |
|
Cryptorchidism, Spina bifida occulta, Hypospadias, Short palm |
OMIM:101805 |
Non-Distal Duplication 10Q |
|
Micrognathia, Pectus excavatum, Cryptorchidism, High palate, Scoliosis |
ORPHA:1695 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Missing ribs, Bilateral cryptorchidism, Coronal hypospadias, Short neck, Esophageal atresia, Trac... |
OMIM:619859 |
Bone Dysplasia, Lethal Holmgren Type |
|
Joint dislocation, Metaphyseal dysplasia, Rhizomelia, Micromelia, Short neck, Abnormal thumb morp... |
ORPHA:1842 |
Dysosteosclerosis |
|
Micrognathia, Increased intervertebral space, Absent frontal sinuses, Hypoplastic vertebral bodie... |
OMIM:224300 |
Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Congenital hip dislocation, Intestinal malrotation, Pectus excavatu... |
ORPHA:2970 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Abnormal intervertebral disk ... |
ORPHA:2311 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Short ribs, Bell-shaped thorax |
OMIM:187750 |
Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Cryptorchidism, Brachydactyly |
ORPHA:3303 |
1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hip dysplasia, Hypospadias, Hip dislocation |
ORPHA:250994 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Short toe, Hyperinsuline... |
ORPHA:3085 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Micromelia, Cryptorchidism, Abnormal rib morphology, Ambiguous genitalia |
ORPHA:2772 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu... |
OMIM:187600 |
Autosomal Recessive Amelia |
|
Hypoplasia of penis, Small scrotum, Micrognathia, Cryptorchidism, Amelia involving the upper limb... |
ORPHA:1027 |
Image Syndrome |
|
Metaphyseal dysplasia, Hypospadias, Micromelia, Adrenal hypoplasia, Cryptorchidism, Hypogonadism |
ORPHA:85173 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Narrow chest, Micropenis, Hamartoma ... |
OMIM:263520 |
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Cryptorchidism, Congenital knee dislocation, Scoliosis, Bilateral facial palsy, Flexion contractu... |
ORPHA:319332 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Optic atrophy, Coxa ... |
OMIM:602271 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Trisomy 4P |
|
Hypospadias, Camptodactyly of finger, Short neck, Preaxial hand polydactyly, Cryptorchidism, Radi... |
ORPHA:1738 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placeme... |
ORPHA:93267 |
Distal Duplication 15Q |
|
Omphalocele, Arachnodactyly, Camptodactyly of finger, Short neck, Pectus excavatum, Cryptorchidis... |
ORPHA:1707 |
Diaphanospondylodysostosis |
|
Missing ribs, Short neck, Short thorax, Cleft palate, Enlarged thorax, Narrow pelvis bone, Multip... |
ORPHA:66637 |
Thoracomelic Dysplasia |
|
Bell-shaped thorax, Short ribs |
OMIM:273740 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Cdags Syndrome |
|
Hypospadias, Delayed cranial suture closure, Sagittal craniosynostosis, Rectourethral fistula, Ky... |
OMIM:603116 |
Ulbright-Hodes Syndrome |
|
Maternal diabetes, Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, High palate, Phocomel... |
ORPHA:3404 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Seckel Syndrome 1 |
|
11 pairs of ribs, Ivory epiphyses, Hypospadias, Abnormal finger flexion crease, Sandal gap, Micro... |
OMIM:210600 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
O'Donnell-Luria-Rodan Syndrome |
|
Cryptorchidism, Kyphosis, Tapered finger |
OMIM:618512 |
Atelosteogenesis, Type I |
|
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Verteb... |
OMIM:108720 |
Non-Syndromic Posterior Hypospadias |
|
Bifid scrotum, Omphalocele, Abnormality of the endocrine system, Cryptorchidism, Ventral shorteni... |
ORPHA:95706 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Rocker bottom foot, Short neck, Micrognathia, Cryptorchidism, Kyphosis, Facial diplegia, Hip dysp... |
OMIM:611890 |
Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib ... |
ORPHA:2021 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cryptorchidism, Short metacarpal, Short thumb |
ORPHA:2489 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Abnormality of the knee, Short neck, Missing ribs, Micrognathia, Abnormal rib morpho... |
ORPHA:1834 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Intestinal malrotation, Postaxial polydactyly, Missing ribs, Hypoplastic ischia, M... |
OMIM:617866 |
Short-Rib Thoracic Dysplasia 12 |
|
Short neck, Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, H... |
OMIM:269860 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Micrognathia, Proximal femoral metaphyseal irregularity, Early ossification of capital femoral ep... |
ORPHA:397715 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis, Cardiomegaly |
ORPHA:88643 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Bilateral cryptorchidism, Micropenis, Short palm |
OMIM:300982 |
Omodysplasia 2 |
|
Micrognathia, Clitoral hypoplasia, Limited elbow flexion, Clinodactyly of the 5th finger, Micrope... |
OMIM:164745 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal... |
OMIM:215045 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Neuropathic spinal arthropathy, Facial palsy, Abnormality of the tongue muscle, Cryptorchidism, H... |
ORPHA:370968 |
Oliver-Mcfarlane Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulat... |
OMIM:275400 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Narrow chest, Short phalanx of finger, B... |
ORPHA:56304 |
Mehmo Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Tapered finger, Cryptorchidi... |
ORPHA:85282 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pectus excavatum, Cryptorchidism, Perianal abscess, Clinodactyly, Small hand, Pectus carinatum, B... |
OMIM:614684 |
Microcephaly 27, Primary, Autosomal Dominant |
|
Tapered finger, Metatarsus adductus, Cryptorchidism, Short finger, Clinodactyly of the 5th finger... |
OMIM:619180 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Short neck, Bowing of the legs, ... |
OMIM:200600 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Distal Duplication 18Q |
|
Hypoplasia of penis, Arachnodactyly, Camptodactyly of finger, Short neck, Progressive interverteb... |
ORPHA:1716 |
Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Hypospadias, Micrognathia, Cryptorchidism, Short middle phalanx of finger, Micropenis, Brachydactyly |
OMIM:612626 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... |
OMIM:612447 |
Osteoglosphonic Dysplasia |
|
Abnormal clavicle morphology, Inguinal hernia, Rhizomelia, Craniosynostosis, Micrognathia, Crypto... |
ORPHA:2645 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Thoracic scoliosis, Inguinal hernia, Rudimentary postaxial polydactyly of hands, Arac... |
OMIM:600325 |
Mmep Syndrome |
|
Cryptorchidism, Split foot, Triphalangeal thumb |
ORPHA:3434 |
8p23.1 deletion syndrome |
|
Cryptorchidism |
DECIPHER:39 |
Coffin-Siris Syndrome 8 |
|
Cryptorchidism, Inguinal hernia, Scoliosis |
OMIM:618362 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... |
ORPHA:2347 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short neck, Lateral clavicle hook, Micrognathia, Preaxial polydactyly, Long thorax, Narrow greate... |
OMIM:617925 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Short distal phalanx of the thumb, Ovarian fibroma, Down-sloping shoulders, Kyp... |
OMIM:109400 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... |
OMIM:250420 |
Caudal Duplication |
|
Abnormal penis morphology, Omphalocele, Cryptorchidism, Abnormal sacrum morphology, Bifid sacrum,... |
ORPHA:1756 |
Microphthalmia, Syndromic 3 |
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Optic nerve aplasia, Vertebral fusion, Hypogonadotropic hypogonadism, Hypospadias, Optic nerve hy... |
OMIM:206900 |
Weaver Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Inguinal hernia, Sandal gap, Camptodactyly of finger, Mic... |
ORPHA:3447 |
Distal Monosomy 7Q36 |
|
Hypoplasia of penis, Short neck, Pectus excavatum, Cryptorchidism, Micrognathia, Optic atrophy, C... |
ORPHA:1636 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Short neck, Micrognathia, Cryptorch... |
ORPHA:3409 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
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Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... |
OMIM:202150 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Developmental And Epileptic Encephalopathy 70 |
|
Cryptorchidism, Scoliosis |
OMIM:618298 |
Thoracopelvic Dysostosis |
|
Short ribs |
OMIM:187770 |
Wagr Syndrome |
|
Micrognathia, Cryptorchidism, Scoliosis, Ambiguous genitalia, Displacement of the urethral meatus |
ORPHA:893 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Acrocallosal Syndrome |
|
Abnormal clavicle morphology, Inguinal hernia, Hypospadias, Cryptorchidism, Postaxial hand polyda... |
ORPHA:36 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
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Hyperextensibility of the finger joints, Congenital hip dislocation, Delayed closure of the anter... |
OMIM:619797 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
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Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of ... |
OMIM:610628 |
Diphallia |
|
Bifid scrotum, Inguinal hernia, Rectoperineal fistula, Hypospadias, Absent thumb, Epispadias, Cry... |
ORPHA:227 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Hypogonadotropic hypogonadism, Abnormal distal phalanx morphology of finger, Hyperlordosis, Micro... |
ORPHA:1387 |
Wilson-Turner Syndrome |
|
Hypogonadotropic hypogonadism, Tapered finger, Micrognathia, Cryptorchidism, Small hand, Short foot |
ORPHA:3459 |
Ruvalcaba Syndrome |
|
Inguinal hernia, Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Crypto... |
ORPHA:3121 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Micromelia, Micrognathia, Renal cyst, Narrow chest, Absent or minimally ossi... |
ORPHA:93271 |
N Syndrome |
|
Cryptorchidism, Hypospadias |
OMIM:310465 |
Distal Deletion 10P |
|
Hypoplasia of penis, Short neck, Micrognathia, Cryptorchidism, Abnormality of the elbow, Cleft pa... |
ORPHA:1580 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Hypospadias, Abnormal rib morphology, Ambiguous ... |
ORPHA:276422 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Missing ribs, Aplasia/Hypoplasia of the distal pha... |
ORPHA:1647 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Bifid uvula, Shawl scrotum |
OMIM:615942 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Lateral clavicle hook, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the ... |
OMIM:615630 |
Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Inguinal hernia, Short femur, Metaphyseal spurs, Wide cranial sutures, Undul... |
OMIM:618188 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Cryptorchidism |
ORPHA:1174 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Micrognathia, Cryptorchidism, Cleft palate, Vertebral segmentation defect, Multiple renal cysts, ... |
ORPHA:1166 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia ... |
OMIM:215140 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short neck, Micrognathia, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:304120 |
48,Xxyy Syndrome |
|
Hypoplasia of penis, Inguinal hernia, Hypergonadotropic hypogonadism, Elbow dislocation, Cryptorc... |
ORPHA:10 |
Postaxial Acrofacial Dysostosis |
|
Supernumerary nipple, Pectus excavatum, Cryptorchidism, Supernumerary vertebrae, Micropenis |
OMIM:263750 |
Cowden Syndrome 6 |
|
Colonic diverticula, Hyperthyroidism, Micrognathia, Pectus excavatum, Kyphosis, Thyroiditis, Furr... |
OMIM:615109 |
Arthrogryposis, Distal, Type 3 |
|
Lumbar hyperlordosis, Congenital hip dislocation, Thoracolumbar scoliosis, Kyphoscoliosis, Short ... |
OMIM:114300 |
Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Kyphoscoliosis, Crani... |
ORPHA:65759 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
External genital hypoplasia, Short neck, Micrognathia, Hemivertebrae, Tibial bowing, Narrow chest... |
ORPHA:96334 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Hypogonadism, Micropenis, ... |
ORPHA:3363 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Broad long bones, Abnormal metatarsal morphology, Short neck, Pectus excavatum, Cryptorchidism, S... |
ORPHA:163654 |
Arthrogryposis, Distal, Type 1A |
|
Hip contracture, Congenital hip dislocation, Overlapping toe, Rocker bottom foot, Cryptorchidism,... |
OMIM:108120 |
X-Linked Intellectual Disability, Cilliers Type |
|
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Hypospadias, Cryptorc... |
ORPHA:163971 |
Ichthyosis, X-Linked |
|
Cryptorchidism, Testicular neoplasm |
OMIM:308100 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ulnar deviation of the wrist, Micrognathia, Cryptorchidism, Unilambdoid synostosis, Scoliosis, Cl... |
OMIM:618577 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S... |
OMIM:200610 |
Seckel Syndrome 4 |
|
11 pairs of ribs, Steep acetabular roof |
OMIM:613676 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Sh... |
OMIM:609945 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Maternal diabetes, Hemivertebrae, ... |
OMIM:134780 |
Microphthalmia, Isolated 4 |
|
Absent testis |
OMIM:613094 |
Hypophosphatasia, Infantile |
|
Craniosynostosis, Bowing of the legs, Micromelia, Vertebral clefting, Platyspondyly, Short ribs, ... |
OMIM:241500 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Micrognathia, Hemivertebrae, Clitoral hypoplasia, Short palm, Thoracic hemivertebrae,... |
OMIM:268310 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size |
OMIM:614880 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Inguinal hernia, Small scrotum, Hypospadias, Micrognathia, Cryptorchidism, Cleft palate, Abnormal... |
ORPHA:2505 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi... |
ORPHA:3429 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... |
OMIM:616030 |
Congenital Myopathy 19 |
|
Micrognathia, Cryptorchidism, Bell-shaped thorax, High palate, Scoliosis |
OMIM:618578 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism |
OMIM:612370 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasi... |
OMIM:220210 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Chromosome 16Q22 Deletion Syndrome |
|
Prominent metopic ridge, Hypospadias, Broad hallux, Short neck, Micrognathia, Cryptorchidism, Hip... |
OMIM:614541 |
Temple Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Small ... |
ORPHA:254516 |
Leukodystrophy, Hypomyelinating, 21 |
|
Cryptorchidism, Optic atrophy, Hypogonadotropic hypogonadism |
OMIM:619310 |
3C Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Inguinal hernia, Hypospadias, Intestinal malrotation, Adr... |
ORPHA:7 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Cryptorchidism, Short thumb, Radio... |
OMIM:194350 |
Proximal Xq28 Duplication Syndrome |
|
Pectus excavatum, Cryptorchidism, Hypospadias |
ORPHA:1762 |
Warburg Micro Syndrome 1 |
|
Overlapping toe, External genital hypoplasia, Kyphoscoliosis, Micrognathia, Cryptorchidism, Optic... |
OMIM:600118 |
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome |
|
Small scrotum, Cryptorchidism, Optic atrophy, Scoliosis, Short distal phalanx of finger |
ORPHA:1970 |
Intellectual Developmental Disorder, X-Linked 93 |
|
Cryptorchidism |
OMIM:300659 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Genu valgum, Anal atresia |
ORPHA:1381 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Short neck, Micrognathia, Metaphyseal wid... |
OMIM:224400 |
X-Linked Intellectual Disability, Van Esch Type |
|
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Cryptorchidism, Incre... |
ORPHA:163976 |
Alazami-Yuan Syndrome |
|
Cryptorchidism, Broad hallux, High palate |
OMIM:617126 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Pectus excavatum, Cryptorchidism, Primary amenorrhea, Cleft palate... |
OMIM:244200 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Syndactyly, Toe syndactyly, Intestinal malrotation, Clinodactyly of the 5th finger, ... |
OMIM:601163 |
48,Xxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Inguinal hernia, Down-sloping shoulders, Short neck, Coxa val... |
ORPHA:96263 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Craniofrontonasal Syndrome |
|
Short neck, Sprengel anomaly, Clinodactyly of the 5th finger, Hypospadias, Broad hallux, Cryptorc... |
OMIM:304110 |
3-Methylglutaconic Aciduria, Type Iv |
|
Cryptorchidism |
OMIM:250951 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Cryptorchidism, Cleft palate, ... |
ORPHA:2332 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... |
OMIM:619938 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Absent scrotum |
OMIM:618479 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... |
OMIM:614897 |
49,Xyyyy Syndrome |
|
Abnormality of the epiphyses of the elbow, External genital hypoplasia, Abnormality of the testis... |
ORPHA:99330 |
46,Xy Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Inguinal her... |
ORPHA:325345 |
Achondroplasia |
|
Brachydactyly, Lumbar hyperlordosis, Radial bowing, Short femur, Rhizomelia, Bowing of the legs, ... |
OMIM:100800 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Toe syndactyly, Short neck, Cryptorchidism, Platyspondyly, Cone-shaped epiphyses of the distal ph... |
OMIM:618958 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Omphalocele, Adrenal hypoplasia, Cryptorchidism, Postaxial hand polydactyly, He... |
OMIM:264480 |
Crane-Heise Syndrome |
|
Finger syndactyly, Abnormally ossified vertebrae, Hypoplasia of penis, Hypoplastic scapulae, Toe ... |
ORPHA:1512 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... |
OMIM:612702 |
Cornelia De Lange Syndrome 5 |
|
Toe syndactyly, Proximal placement of thumb, Short neck, Micrognathia, Cryptorchidism, Small hand... |
OMIM:300882 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Abno... |
ORPHA:2319 |
46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Small hand, Short foot, Hypogonadism, D... |
OMIM:300869 |
Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Unilateral cryptorchidism |
OMIM:618286 |
Acrorenal-Mandibular Syndrome |
|
Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplasia of the ulna, Split hand, Bicor... |
OMIM:200980 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Increased density of long bones, Short neck, Tibial bowing, Hypoplasia of first ri... |
OMIM:269150 |
Shprintzen-Goldberg Syndrome |
|
Inguinal hernia, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Craniosynosto... |
ORPHA:2462 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, High, ... |
OMIM:119600 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Cryptorchidism, Hypoplastic male external genitalia |
OMIM:618823 |
Fetal Hydantoin Syndrome |
|
Bifid scrotum, Cryptorchidism, Cleft palate, Triphalangeal thumb, Short distal phalanx of finger |
ORPHA:1912 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Cryptorchidism, Sacral dimple, Tetraamelia, High, narrow palate |
OMIM:273390 |
Van Maldergem Syndrome 2 |
|
Bifid scrotum, Sacral dimple, Inguinal hernia, Hypospadias, Short fourth metatarsal, Wide cranial... |
OMIM:615546 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Cubitus valgus, Cryptorchidism, Genu valgum, Shawl scrotum |
ORPHA:1778 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Micrognathia, Cryptorchidism, Optic atrophy, Pectus ca... |
OMIM:615419 |
49,Xxxyy Syndrome |
|
Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... |
ORPHA:261534 |
Meier-Gorlin Syndrome 8 |
|
Bilateral cryptorchidism |
OMIM:617564 |
Ohdo Syndrome, X-Linked |
|
Inguinal hernia, Small scrotum, Overlapping toe, Hiatus hernia, Micrognathia, Cryptorchidism, Cli... |
OMIM:300895 |
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Bifid scrotum, Short distal phalanx of finger, Brachytelomesophalangy |
ORPHA:1547 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Hypogonadism, External genital hypoplasia |
ORPHA:363741 |
Mcdonough Syndrome |
|
Micrognathia, Pectus excavatum, Cryptorchidism, Kyphosis, Scoliosis |
ORPHA:2471 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hypospadias, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum,... |
ORPHA:2522 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Short neck, Hamartoma of tongue, Postaxial polydactyly, Micromelia, Preaxial p... |
OMIM:616546 |
20Q11.2 Microduplication Syndrome |
|
Bifid scrotum, Sacral dimple, Inguinal hernia, Prominent metopic ridge, Pectus excavatum, Cryptor... |
ORPHA:363659 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Inguinal hernia, Syndactyly, Down-sloping shoulders, Pectus excavatum, Cryptorc... |
OMIM:227330 |
Nicolaides-Baraitser Syndrome |
|
Joint dislocation, Sandal gap, Cryptorchidism, High, narrow palate, Abnormal finger morphology, C... |
ORPHA:3051 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Small scrotum, Short neck, Kyphosis, Short thorax, Genu valgum, Hypogonadism... |
ORPHA:2983 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Short neck, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of t... |
OMIM:271665 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Hyperlordosis, Cryptorchidism, Hip dislocation, Macroglossia, Scoliosis, Micropenis |
OMIM:613156 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Micrognathia, Cryptorchidism, Midshaft hypospadias, High palate, Wormian... |
ORPHA:2863 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypospadias, Sandal gap, Cryptorchidism, Kyphosis, Small hand, Short foot, Macroglossia, Hypogona... |
OMIM:300354 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... |
ORPHA:2616 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Pectus excavatum of inferior sternum, Small scrotum, Rocker bottom foot, Tapered finger, Cryptorc... |
OMIM:601353 |
Renpenning Syndrome |
|
Diabetes mellitus, Hypospadias, Pectus excavatum, High, narrow palate, Abnormal thumb morphology,... |
ORPHA:3242 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Decreased response to growth hormone stimulation test, Proximal placement of th... |
OMIM:618624 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
3Mc Syndrome 3 |
|
Bifid scrotum, Sacral dimple, Cryptorchidism, Clinodactyly, Preaxial polydactyly, Cleft palate, R... |
OMIM:248340 |
Cowden Syndrome 1 |
|
Colonic diverticula, Hyperthyroidism, Micrognathia, Pectus excavatum, Kyphosis, Thyroiditis, Furr... |
OMIM:158350 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Penoscrotal Transposition |
|
Abnormal external genitalia, Hypospadias, Micrognathia, Penoscrotal transposition, Patellar aplas... |
ORPHA:2842 |
Leopard Syndrome 1 |
|
Scapular winging, Hypospadias, Kyphoscoliosis, Short neck, Missing ribs, Cryptorchidism, Pectus e... |
OMIM:151100 |
Acrodysostosis |
|
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... |
ORPHA:950 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Inguinal hernia, Hypospadias, Broad hallux, 1-3 toe syndactyly, Craniosynos... |
OMIM:175700 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Diabetes mellitus, Hypospadias, Cryptorchidism, Short metatarsal, Spinal canal ... |
OMIM:614613 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphoscoliosis, Cryptorchidism, Kyphosis, Scoliosis, Flexion contracture of finger, Adducted thumb |
OMIM:618484 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, High, narrow palate, 2-3 toe cutan... |
OMIM:600920 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Cryptorchidism, Hand polydactyly, Type II diabetes mellit... |
ORPHA:2377 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Cryptorchidism, Micrognathia, Genu varum |
OMIM:604317 |
Chromosome 18P Deletion Syndrome |
|
Barrel-shaped chest, Toe syndactyly, Short neck, Micrognathia, Cryptorchidism, Coxa vara, Gonadal... |
OMIM:146390 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Intellectual Developmental Disorder, X-Linked 106 |
|
Hypospadias, Cryptorchidism, Clinodactyly of the 5th finger, Clinodactyly, Decreased testicular size |
OMIM:300997 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Small scrotum, Camptodactyly of finger, Short neck, Micrognathia, Cryptorchi... |
ORPHA:2083 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Lumbar hyperlordosis, Hypoplastic scapulae, Rhizomelia, Mi... |
OMIM:602471 |
Pierpont Syndrome |
|
Short neck, Cryptorchidism, Short toe, Short foot, Scoliosis, Short palm, Prominent fingertip pad... |
OMIM:602342 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Sagittal craniosynostosis, Micrognathia, Small hand, Hydrocele testis, Bicornuate ut... |
OMIM:145420 |
Persistent Müllerian Duct Syndrome |
|
Cryptorchidism, Male pseudohermaphroditism |
ORPHA:2856 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Micrognathia, Cryptorchidism, Kyphosis, Congenital pyloric atresia, Vertebral segmentation defect... |
ORPHA:2617 |
Temple Syndrome |
|
Maturity-onset diabetes of the young, Micrognathia, Precocious puberty, Cryptorchidism, Small han... |
OMIM:616222 |
Stt3B-Cdg |
|
Cryptorchidism, Micropenis, Small scrotum, Optic atrophy |
ORPHA:370924 |
Hallermann-Streiff Syndrome |
|
Micrognathia, Cryptorchidism, High, narrow palate, Small hand, Short foot, Glossoptosis, Rib exos... |
ORPHA:2108 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Hypospadias, Cryptorchidism, Short toe, Coronal hypospadias, Cleft palate, Ulnar ... |
ORPHA:921 |
Acrofrontofacionasal Dysostosis 2 |
|
Bifid scrotum, Syndactyly, Sacral dimple, Hypospadias, Broad hallux, Hand polydactyly, High palat... |
OMIM:239710 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Hypospadias, Rocker bottom foot, Adrenal hypoplasia, Cryptorchidi... |
OMIM:617053 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... |
ORPHA:432 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Cleft palate, Hypoplasia ... |
OMIM:119500 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Tapered finger, Cryptorchidism, High palate, Short palm, Clinodactyly, D... |
ORPHA:85279 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Hi... |
ORPHA:3472 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Cryptorchidism, Micropenis, Small scrotum, Optic atrophy |
OMIM:615597 |
Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Shortening of all middle phalanges of the fingers, Hypospadias, Proximal placement... |
OMIM:140000 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Arachnodactyly, Cryptorchidism, Kyphosis, Abnormal sho... |
ORPHA:2115 |
Rin2 Syndrome |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cryptorchidism, Abnormal sternum... |
ORPHA:217335 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Thoracic dysp... |
OMIM:208500 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Abnormal autonomic nervous system physiology,... |
ORPHA:168593 |
49,Xxxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Down-sloping shoulders, Short neck, Coxa valga, Cryptorchidis... |
ORPHA:96264 |
Trisomy 13 |
|
Cryptorchidism, Kyphosis, High, narrow palate, Optic atrophy, Abnormal rib morphology, Cleft pala... |
ORPHA:3378 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Cryptorchidism, Hypospadias, Polydactyly, Hypoplastic ischia |
OMIM:616910 |
Renal Agenesis |
|
Absent vas deferens, Aplasia/hypoplasia of the uterus |
ORPHA:411709 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Cryptorchidism, Increase... |
OMIM:616817 |
Pierpont Syndrome |
|
Short neck, Cryptorchidism, Short toe, Scoliosis, Short finger, Prominent fingertip pads |
ORPHA:487825 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Facial palsy, Hyperlordosis, Abnormal rib mor... |
ORPHA:3068 |
Septopreoptic Holoprosencephaly |
|
Precocious puberty, Abnormal rib morphology, Anteriorly placed anus, Anterior hypopituitarism, Ce... |
ORPHA:280195 |
Fanconi Anemia, Complementation Group O |
|
External genital hypoplasia, Proximal placement of thumb, Absent thumb, Cryptorchidism, Short thu... |
OMIM:613390 |
Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Micrognathia, Cryptorchidism, Cleft palate, Bicornuate uterus |
OMIM:615524 |
Satoyoshi Syndrome |
|
Abnormality of the knee, Hyperlordosis, Tapered finger, Abnormality of the humerus, Abnormality o... |
ORPHA:3130 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Optic nerve hypoplasia, Micrognathia, Cryptorchidism, Optic atrophy, Pectus carinatum, Hip dyspla... |
ORPHA:496790 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Brachydactyly, Hypogonadotropic hypogonadism, Genu valgum, Ab... |
ORPHA:1295 |
Robinow Syndrome |
|
Small scrotum, External genital hypoplasia, Micrognathia, Hemivertebrae, Clitoral hypoplasia, Web... |
ORPHA:97360 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Spinal rigidity, Pectus excavatum, Cryptorchidism, High palate, Scoliosis, Delayed puberty |
ORPHA:486815 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Cryptorchidism, Overlapping toe, Scoliosis |
ORPHA:466926 |
Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of penis, Small scrotum, Tapered finger, Cryptorchidism, Short toe, Hypogonadism, Abno... |
ORPHA:127 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Abnormal intervertebral disk morphology, Pectus excavatum, Cryptorchidism, Abnormality of the elb... |
ORPHA:2701 |
Craniosynostosis With Fibular Aplasia |
|
Cryptorchidism |
OMIM:218550 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism |
OMIM:616816 |
Trisomy 1Q |
|
Omphalocele, Microretrognathia, Multicystic kidney dysplasia, Small scrotum, Arachnodactyly, Toe ... |
ORPHA:261344 |
Schaaf-Yang Syndrome |
|
Rocker bottom foot, Tapered finger, Cryptorchidism, Kyphosis, Clinodactyly, Small hand, Short foo... |
OMIM:615547 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Decreased response to growth hormone st... |
OMIM:614732 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... |
OMIM:250220 |
Gorlin Syndrome |
|
Vertebral fusion, Hypogonadotropic hypogonadism, Arachnodactyly, Cryptorchidism, Hemivertebrae, V... |
ORPHA:377 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Short neck, Micrognathia, Cryptorchidis... |
OMIM:257300 |
Currarino Syndrome |
|
Bifid scrotum, Sacrococcygeal teratoma, Hypoplasia of penis, Hypospadias, Male pseudohermaphrodit... |
ORPHA:1552 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypospadias, Sagittal cranio... |
ORPHA:2872 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Abnormal thorax morphology, Congenital hip dislocation, Cleft palate |
OMIM:164180 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Broad hallux, Hamartoma of tongue, Micrognathia, Epispadias, Cryptorchidism, O... |
OMIM:615948 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... |
OMIM:273250 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Inguinal hernia, Micrognathia, Cryptorchidism, Kyphosis, Joint contracture of the 5th finger, Sco... |
ORPHA:352490 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Facial palsy, Abnormal rib morphology, Abnormal form of the vertebral b... |
ORPHA:2790 |
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome |
|
Micrognathia, Cryptorchidism, 2-3 toe syndactyly, High palate, Scoliosis, Hypoplastic male extern... |
ORPHA:502434 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph... |
OMIM:154400 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... |
ORPHA:398079 |
Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals |
OMIM:618724 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anteriorly placed anus, Clitor... |
OMIM:305600 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Maturity-onset diabetes of the young, Micrognathia, Precocious puberty, Cryptorchidism, Pyloric s... |
ORPHA:96184 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... |
OMIM:137920 |
Filippi Syndrome |
|
2-4 toe syndactyly, Cryptorchidism, Optic atrophy, Cutaneous syndactyly, Finger clinodactyly, Amb... |
OMIM:272440 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Supernumerary nipple, Pectus excavatum, Supernumerary ribs, Six lumbar vertebrae |
OMIM:619122 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Bilateral cryptorchidism, Micropenis, Hypospadias |
OMIM:618840 |
19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Finger syndactyly, Congenital hip dislocation, Hypospadias, Toe syndactyly, Supern... |
ORPHA:217346 |
Freeman-Sheldon Syndrome |
|
Cryptorchidism, Camptodactyly of finger, Scoliosis, Ulnar deviation of finger |
ORPHA:2053 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism |
ORPHA:261102 |
Neurofibromatosis-Noonan Syndrome |
|
Cryptorchidism, Abnormal thorax morphology |
ORPHA:638 |
Li-Campeau Syndrome |
|
Cryptorchidism, Micropenis, Hypothyroidism, Patellar hypoplasia |
OMIM:619189 |
Jacobsen Syndrome |
|
Hypospadias, Short neck, Pectus excavatum, Cryptorchidism, Missing ribs, Pyloric stenosis, Optic ... |
OMIM:147791 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Absent vas deferens, Hypospadias, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Papillar... |
ORPHA:93111 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Decreased nerve conduction velocity, Cryptorchidism, Optic atrophy, Abnormal peripheral action po... |
ORPHA:457205 |
Cortical Dysplasia, Complex, With Other Brain Malformations 12 |
|
Prominent metopic ridge, Cryptorchidism, High palate, Scoliosis, Clinodactyly |
OMIM:620316 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Hypospadias, Craniosynostosis, Micrognathia, Cryptorchi... |
ORPHA:171839 |
Imagawa-Matsumoto Syndrome |
|
Anteriorly placed anus, Cryptorchidism, Clinodactyly, Camptodactyly |
OMIM:618786 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ... |
ORPHA:2635 |
Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnormal form of the ver... |
ORPHA:1354 |
Recessive X-Linked Ichthyosis |
|
Cryptorchidism |
ORPHA:461 |
Fryns Syndrome |
|
Bifid scrotum, Ectopic pancreatic tissue, Proximal placement of thumb, Short neck, Renal cyst, Pr... |
OMIM:229850 |
Stt3A-Cdg |
|
Cryptorchidism, Micropenis, Small scrotum |
ORPHA:370921 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Micrognathia, Cryptorchidism, Male pseudohermaphroditi... |
ORPHA:2075 |
Ulnar-Mammary Syndrome |
|
Abnormal clavicle morphology, Hypoplasia of penis, Abnormal finger morphology, Pectus carinatum, ... |
ORPHA:3138 |
Chung-Jansen Syndrome |
|
Tapered finger, Micrognathia, Cryptorchidism, Hip dysplasia, High palate, Clinodactyly of the 5th... |
OMIM:617991 |
Rahman Syndrome |
|
Cryptorchidism, Kyphoscoliosis, Camptodactyly |
OMIM:617537 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Anal stenosis, Abnormal odontoid process morphology, Block vertebrae, Short nec... |
OMIM:613686 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypoplasia of penis, Small scrotum, Multiple pterygia, Micrognathia, Symphalangism affecting the ... |
ORPHA:2990 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Hypoplastic s... |
OMIM:308050 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Inguinal hernia... |
OMIM:608022 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrod... |
OMIM:156400 |
Retinitis Pigmentosa 59 |
|
Cryptorchidism, Micropenis |
OMIM:613861 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hypogonadism |
OMIM:601794 |
Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Protruding tongue, Mic... |
ORPHA:50945 |
Triploidy |
|
Omphalocele, Finger syndactyly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Short n... |
ORPHA:3376 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
11 pairs of ribs, Rhizomelia, Hemivertebrae, Anteriorly placed anus, Vertebral segmentation defec... |
OMIM:617661 |
Branchial Arch Syndrome, X-Linked |
|
Cryptorchidism |
OMIM:301950 |
Gm1 Gangliosidosis |
|
Inguinal hernia, Camptodactyly of finger, Hyperlordosis, Kyphosis, Optic atrophy, Abnormal form o... |
ORPHA:354 |
Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Flat acetabular roo... |
OMIM:617159 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Sacral dimple, Inguinal hernia, Short neck, Bilateral cryptorchidism, Micrognathia, High palate |
OMIM:613544 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Kyphoscoliosis |
OMIM:300886 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Hypospadias, Short neck, Micrognathia, Cryptorchidism, Short toe, Pectus carinatum, High palate |
ORPHA:98791 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft palate, Abnormal shoulder ... |
ORPHA:2345 |
Fetal Akinesia Deformation Sequence 2 |
|
Cryptorchidism, High palate, Cleft palate, Micrognathia |
OMIM:618388 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Bilateral cryptorchidism, Cryptorchidism, Thora... |
OMIM:619542 |
Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Hypospadias, Overlapping toe, Tapered finger, Cryptorchidism, Optic atrophy, High palate, Scoliosis |
OMIM:300004 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Arachnodactyly, Aplasia/Hypoplasia of the tongue, Missing ribs, Abnormal rib morphology, Hemivert... |
ORPHA:2759 |
Nail-Patella Syndrome |
|
Back pain, Lumbar hyperlordosis, Glenoid fossa hypoplasia, Pectus excavatum, Patellar aplasia, Hy... |
OMIM:161200 |
Qazi-Markouizos Syndrome |
|
Tapered finger, Pectus excavatum, Cryptorchidism, High, narrow palate, Delayed ossification of ca... |
ORPHA:3010 |
9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Cryptorchidism, Abnormal tongue morphology, Vertebral segmentation defect, Hip ... |
ORPHA:531151 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Postaxial hand polydactyly, Hydrometrocolpos, Aplasia of the epiglottis, C... |
OMIM:617088 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Postaxial hand polydactyly, Hemive... |
ORPHA:85284 |
German Syndrome |
|
Camptodactyly of finger, Short neck, Micrognathia, Cryptorchidism, High palate, Ambiguous genitalia |
ORPHA:2077 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Prominent metopic ridge, Hypospadias, Overlapping toe, Tapered finger, Micrognathi... |
OMIM:619148 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Bifid scrotum, Inguinal hernia, Hypospadias, Overlapping toe, Micrognathia, Cryptorchidism, Cutan... |
OMIM:613026 |
Myhre Syndrome |
|
Abnormal penis morphology, Inguinal hernia, Brachydactyly, Hypospadias, External genital hypoplas... |
ORPHA:2588 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Cryptorchidism, Micropenis, Hypospadias |
OMIM:618815 |
Chromosome 10Q26 Deletion Syndrome |
|
Omphalocele, Scapular winging, Lumbar hyperlordosis, Small scrotum, Congenital hip dislocation, T... |
OMIM:609625 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hallux valgus, Thoracic scoliosis, Inguinal hernia, Short neck, Micrognathia, Cryptorchidism, Fac... |
OMIM:618000 |
Carpenter Syndrome 1 |
|
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Short neck, Micro... |
OMIM:201000 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Craniosynostosis, Micromelia, Elbow dislocation, C... |
ORPHA:93329 |
46,Xx Sex Reversal 4 |
|
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... |
OMIM:617480 |
Trisomy 8Q |
|
Hypoplasia of penis, Camptodactyly of finger, Short neck, Micrognathia, Cryptorchidism, Cleft pal... |
ORPHA:1752 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Kyphoscoliosis, Protruding tongue, Tapered finger, Cryptorchidism, Kyphosis, Clinoda... |
OMIM:301040 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ectopic anus,... |
ORPHA:83628 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hallux valgus, Broad hallux, Hypospadias, Tapered finger, Pectus excavatum, Cryptorchidism, Short... |
OMIM:618659 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Bifid scrotum, Hypoplasia of penis, Micrognathia, Cryptorchidism, Hypothyroidism |
ORPHA:85321 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Micromelia, Anisospondyly, Micrognathia, Cryptorchidism, Short long bon... |
OMIM:224410 |
Bardet-Biedl Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Short neck, Cryptorchidism,... |
ORPHA:110 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... |
OMIM:300863 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Short neck, Micrognathia, Cryptorchidism, Patellar aplasia, Abnormal rib... |
ORPHA:96061 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Renal cyst, Pectus carinatum, Vertebral segmentation defect, Narrow greater sciatic notch, Short ... |
OMIM:312870 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... |
OMIM:278850 |
Larsen Syndrome |
|
Finger syndactyly, Brachydactyly, Large joint dislocations, Craniosynostosis, Cryptorchidism, Acc... |
ORPHA:503 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Clinodactyly, Cleft palate, Primary amenorrhea, Ec... |
OMIM:147950 |
Joubert Syndrome 37 |
|
Prominent metopic ridge, Lumbar hyperlordosis, Postaxial polydactyly, Cryptorchidism, High palate... |
OMIM:619185 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
Pituitary Stalk Interruption Syndrome |
|
Hypoplasia of penis, Ectopic posterior pituitary, Adrenal hypoplasia, Cryptorchidism, Hypothyroid... |
ORPHA:95496 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... |
OMIM:194072 |
Marden-Walker Syndrome |
|
Inguinal hernia, Hypospadias, Arachnodactyly, Short neck, Micrognathia, Cryptorchidism, Kyphosis,... |
OMIM:248700 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Hypogonadotropic hypogonadism, Broad hallux, Overlapping toe, Micrognathia, Cryptorchidism, Insul... |
ORPHA:293967 |
C Syndrome |
|
Omphalocele, Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Micromelia, Mi... |
OMIM:211750 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Type I diabetes mellitus, Cryptorchidism, Hyperlordosis |
ORPHA:1192 |
Perlman Syndrome |
|
Hypoplasia of penis, Inguinal hernia, Micrognathia, Cryptorchidism, High, narrow palate, Abnormal... |
ORPHA:2849 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Craniosynostosis, Bilateral cryptorchidism, Pyloric stenosis, Pectus excavatum, High palate |
ORPHA:314575 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Inguinal hernia, Hypospadias, Pectus excavatum, Cryptorchid... |
ORPHA:1786 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum... |
OMIM:276820 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Non-Distal Duplication 13Q |
|
Arachnodactyly, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, High palate, Narrow chest |
ORPHA:1702 |
15Q24 Microdeletion Syndrome |
|
Brachydactyly, Hypospadias, Decreased response to growth hormone stimulation test, Proximal place... |
ORPHA:94065 |
Recombinant Chromosome 8 Syndrome |
|
Micrognathia, Pectus excavatum, Cryptorchidism, Scoliosis, Camptodactyly, Clinodactyly of the 5th... |
OMIM:179613 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palat... |
ORPHA:95699 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Micrognathia, Cryptorchidism, Bell-shaped thorax, Horizontal ribs |
OMIM:614857 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
Microphthalmia, Syndromic 8 |
|
Cryptorchidism, Split foot, Cleft palate |
OMIM:601349 |
Braddock Syndrome |
|
Missing ribs, Pectus excavatum, Short neck, Preaxial hand polydactyly, Micrognathia, Hemivertebra... |
ORPHA:52047 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Short neck, Micrognathia, Knee flexion contracture, High palate, Intercrural pterygium, Camptodac... |
OMIM:265000 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Decreased serum estradiol, Triphalangeal thumb, Aplasia of the ovary, Aplasia/hypoplasia of the u... |
ORPHA:2232 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Arachnodactyly, Pectus excavatum, Cryptorchidism, Pectus carinatum, Scoliosis, Camptodactyly |
OMIM:301039 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Short Stature-Micrognathia Syndrome |
|
Small scrotum, Rhizomelia, Broad femoral neck, Bowing of the legs, Coxa valga, Cryptorchidism, Me... |
OMIM:617164 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Xerostomia, Pectus carinatum, Anal ... |
OMIM:100100 |
Ring Chromosome 12 Syndrome |
|
Syndactyly, Lumbar hyperlordosis, Pectus excavatum, Cryptorchidism, High, narrow palate, Abnormal... |
ORPHA:1439 |
Aicardi Syndrome |
|
Intestinal polyposis, Block vertebrae, Missing ribs, Precocious puberty, Hiatus hernia, Malabsorp... |
ORPHA:50 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Osteopathia striata, Pectus carinatum, High palate, Finger join... |
OMIM:212720 |
Microphthalmia, Lenz Type |
|
Abnormal clavicle morphology, Finger syndactyly, Hypospadias, Camptodactyly of finger, Hyperlordo... |
ORPHA:568 |
Warburg Micro Syndrome 3 |
|
Small scrotum, Kyphoscoliosis, Micrognathia, Hypoplastic labia minora, Optic atrophy, Narrow pala... |
OMIM:614222 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Inguinal hernia, Micrognathia, Cryptorchidism, Abnormal femur morphology... |
ORPHA:2063 |
2Q23.1 Microdeletion Syndrome |
|
Hypoplasia of penis, Sandal gap, Cryptorchidism, Hip dysplasia, Short palm, Clinodactyly of the 5... |
ORPHA:228402 |
Acrofrontofacionasal Dysostosis |
|
Bifid scrotum, Brachydactyly, Hypospadias, Camptodactyly of finger, Micromelia, Cleft palate, Hig... |
ORPHA:1784 |
8P11.2 Deletion Syndrome |
|
Hypoplasia of penis, Sacral dimple, Hypogonadotropic hypogonadism, Micrognathia, Cryptorchidism, ... |
ORPHA:251066 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Inguinal hernia, Small scrotum, Arachnodactyly, Camptodactyly of finger, Promi... |
ORPHA:2215 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Short neck, Micrognathia, Hemivertebrae, Pectus carinatum, High pal... |
ORPHA:958 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2n... |
OMIM:617201 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Hypospadias, Sandal gap, Micrognathia, Precocious puberty... |
ORPHA:813 |
Diabetic Embryopathy |
|
Micrognathia, Cryptorchidism, Abnormal sacrum morphology, Cleft palate, Vertebral segmentation de... |
ORPHA:1926 |
Birk-Aharoni Syndrome |
|
Cryptorchidism, Micropenis, Micrognathia |
OMIM:620071 |
Hereditary Bullous Dystrophy, Macular Type |
|
External genital hypoplasia, Tapered finger, Cryptorchidism, Short finger, Decreased testicular size |
ORPHA:1867 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Long toe, Sacral dimple, Sandal gap, Long fingers, Patellar hypoplasia, Abnormal epiphysis morpho... |
ORPHA:261279 |
Tonne-Kalscheuer Syndrome |
|
Hypospadias, Micrognathia, Cryptorchidism, Velopharyngeal insufficiency, Broad thumb, Micropenis,... |
OMIM:300978 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Short neck, Micrognathia, Glossoptosis, Vertebral segmentation defect, High p... |
OMIM:611209 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Metaphyseal dysplasia, Hypospadias, Decreased response to growth hormone stimulation test, Short ... |
OMIM:618336 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Ante... |
ORPHA:1488 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Short neck, Micrognathia, Abnormal optic disc morphology, Thoracic kyphosis, ... |
ORPHA:508498 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Short metatarsal, Abnorm... |
ORPHA:93351 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... |
OMIM:609616 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Cryptorchidism, Congenital bilateral hip dislocation, Syndactyly |
ORPHA:404451 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Inguinal hernia, Supernumerary nipple, Micrognathia, Precocious puberty, Cryptorchidism, Anal atr... |
OMIM:619243 |
Focal Dermal Hypoplasia |
|
Omphalocele, Finger syndactyly, Inguinal hernia, Multicystic kidney dysplasia, Toe syndactyly, Co... |
ORPHA:2092 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Fg Syndrome 3 |
|
Cryptorchidism, Broad hallux, Pyloric stenosis, Broad thumb |
OMIM:300406 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal finger morphology, Phocomelia, Microgastria, Multicystic kidney dysplasia, Aplastic clav... |
ORPHA:2538 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Cryptorchidism |
OMIM:210700 |
Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Inguinal hernia, Cryptorchidism, Optic atrophy, Cleft palate |
ORPHA:1252 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Short neck, Micrognathia, Short metatarsal, Renal cyst, High palate, Narrow chest, Clinodactyly o... |
OMIM:266920 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Finger syndactyly, Fused ce... |
ORPHA:3320 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Cryptorchidism |
ORPHA:67044 |
Classic Galactosemia |
|
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... |
ORPHA:79239 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Cryptorchidism, 2-3 toe syndactyly, Gonadal dysgenesis, High palate, Hypogona... |
ORPHA:3306 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Cryptorchidism, Inguinal hernia, Hypothyroidism |
OMIM:613970 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Prominent metopic ridge, Hyperthyroidism, Decreased response to grow... |
ORPHA:488632 |
X-Linked Intellectual Disability, Pai Type |
|
Hydrocele testis, Cryptorchidism, Inguinal hernia, Tapered finger |
ORPHA:85322 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Clinodactyly of the 5th finger, Cryptorchidism, 2-3 toe syndactyly, Tapered finger |
ORPHA:589905 |
Silver-Russell Syndrome 3 |
|
Syndactyly, Unilateral cryptorchidism, Small hand, Antecubital pterygium, Clinodactyly of the 5th... |
OMIM:616489 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cryptorchidism, Hypospadias |
OMIM:620135 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:98754 |
Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Long hallux, Abnormality of the anus, Broad ha... |
ORPHA:2308 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Bifid scrotum, Finger syndactyly, Aganglionic megacolon, Hypospadias, Cleft palate |
ORPHA:66629 |
Congenital Myopathy 9A |
|
Cryptorchidism |
OMIM:618822 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Finger syndactyly, Optic nerve hypoplasia, Micrognathia, Cryptorchidism, 2-3 to... |
OMIM:620025 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Sacral dimple, Overlapping toe, Down-sloping shoulders, Short neck, Tapered finger, Cryptorchidis... |
OMIM:617452 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Hypospadias, Cleft soft palate, Short neck, Micrognathia, Cryptorchidism, Male pseudohermaphrodit... |
ORPHA:2282 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Micrognathia, Cryptorchidism, Ulnar bowing, Shortening of all distal phal... |
OMIM:619135 |
Floating-Harbor Syndrome |
|
Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Clinodactyly of the 5t... |
OMIM:136140 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Bifid scrotum, Craniosynostosis, Cryptorchidism, Optic atrophy, Narrow palate, Cleft palate, Ante... |
ORPHA:1555 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Short neck, Cryptorchid... |
ORPHA:178303 |
Autosomal Dominant Centronuclear Myopathy |
|
Cryptorchidism, Pyloric stenosis, Thin ribs |
ORPHA:169189 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Micrognathia, Cryptorchidism, Abnormal rib morphology, Abnormal form of t... |
ORPHA:52 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Abnormal sternum morphology, Unilateral cryptorchidism, Optic nerve hypoplasia, Pectus carinatum |
ORPHA:137634 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Optic atrophy, Diaphyseal thickening |
ORPHA:1513 |
Recombinant 8 Syndrome |
|
Small scrotum, Camptodactyly of finger, Micrognathia, Pectus excavatum, Cryptorchidism, Patellar ... |
ORPHA:96167 |
Pde4D Haploinsufficiency Syndrome |
|
Short metacarpal, Hypospadias, Broad hallux, Micrognathia, Cryptorchidism, Short toe, Short metat... |
ORPHA:439822 |
Aniridia-Absent Patella Syndrome |
|
Cryptorchidism, Inguinal hernia, Aplasia/Hypoplasia of the patella |
ORPHA:1069 |
Oculoskeletodental Syndrome |
|
Cryptorchidism, Elbow flexion contracture, Macroglossia, Abnormal sternum morphology, Thoracic ky... |
OMIM:618440 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... |
ORPHA:90791 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Shawl scrotum |
ORPHA:85277 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:98793 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Premature ovarian insufficiency, Scoliosis, Female infertility |
OMIM:619518 |
3Q29 Microdeletion Syndrome |
|
Pectus excavatum, Six lumbar vertebrae, Hypospadias, Pectus carinatum |
ORPHA:65286 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Inguinal hernia, Small scrotum, Camptodactyly of finger, Micrognathia, Cryptorchidism, High, narr... |
ORPHA:1968 |
Kapur-Toriello Syndrome |
|
Intestinal malrotation, Camptodactyly of finger, Short neck, Cryptorchidism, Short thumb, Cleft p... |
OMIM:244300 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Optic disc pallor, Cystic renal dysplasia |
OMIM:613730 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Waardenburg Syndrome, Type 1 |
|
Sprengel anomaly, Aplasia of the vagina, Supernumerary ribs, Supernumerary vertebrae |
OMIM:193500 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... |
ORPHA:96179 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Hypospadias, Cleft palate, Short long bone, Scoliosis, Short palm, Bicoronal sy... |
OMIM:619184 |
Syndromic Recessive X-Linked Ichthyosis |
|
Hypogonadism, Cryptorchidism, Testicular seminoma |
ORPHA:281090 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:177904 |
Müllerian Aplasia And Hyperandrogenism |
|
Short neck, Primary amenorrhea, Cleft palate, Hypoplasia of the uterus, Shield chest, Increased s... |
ORPHA:247768 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Omphalocele, Long toe, Hypospadias, Intestinal malrotation, Overlapping toe, Pectus excavatum, Cr... |
OMIM:618316 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... |
OMIM:619761 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Sandal gap, Rocker bottom foot, Supernumerary nipple, Camptodactyly of finger, Mic... |
OMIM:619951 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Small scrotum, Camptodactyly of finger, Rocker bottom foot, Kyphoscoliosis, Micrognathia, Micropenis |
OMIM:610756 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, S... |
OMIM:213980 |
Fetal Akinesia Deformation Sequence |
|
Intestinal hypoplasia, Camptodactyly of finger, Micrognathia, Cryptorchidism, Cleft palate, Scoli... |
ORPHA:994 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:177901 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Hypoplasia of penis, Aganglionic megacolon, Malabsorption, Micrognathia, Cryptorchidism, Ambiguou... |
ORPHA:452 |
Arthrogryposis, Distal, Type 2A |
|
Joint dislocation, Short neck, Knee flexion contracture, High palate, Spina bifida occulta, Wrist... |
OMIM:193700 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Cryptorchidism, Sacral dimple, Cleft palate |
OMIM:615502 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Inguinal hernia, Congenital hip dislocation, Wide cranial sutures, Pectus excavatum, Cryptorchidi... |
OMIM:219150 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Arachnodactyly, Optic nerve hypoplasia, Kyphoscoliosis, Pectus excavatum, Cryptorchidism, High, n... |
OMIM:612513 |
Pyknoachondrogenesis |
|
Hypoplastic ischia, Short iliac bones, Micromelia, Short thorax, Abnormal iliac wing morphology, ... |
ORPHA:3003 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous genitalia, male, Partial deve... |
OMIM:608800 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Cryptorchidism, Inguinal hernia, Scoliosis |
ORPHA:485350 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Micropenis, Hypothal... |
ORPHA:398069 |
Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Micromelia, Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the tibia... |
ORPHA:2753 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Micromelia, Short neck, Micrognathia, High, narrow palate, Abnormal tibia mo... |
ORPHA:2879 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Diabetes mellitus, Micrognathia, Kyphosis, Cryptorchidism, Scoliosis, Male hypogonadism |
OMIM:615381 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Neonatal epiphyseal stippling, Short metatarsal, Elevated circulating thyroid-stimulating hormone... |
OMIM:101800 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Limited elbow extension and supination, Intestinal malrotation, Cryptorchidism, Short thumb, Disl... |
ORPHA:401935 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
11 pairs of ribs, Hip contracture, Inguinal hernia, Short neck, Metatarsus adductus, Micrognathia... |
OMIM:616266 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Rocker bottom foot, Kyphoscoliosis, Coxa valga, Micrognathia, Cryptorchidism, Elbow flexion contr... |
OMIM:214150 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Omphalocele, Enlarged ovaries, Inguinal hernia, Hypospadias, Prominent metopic rid... |
ORPHA:2745 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Bilateral cryptorchidism, Cryptorchidism, Pectus carinatu... |
OMIM:617796 |
13Q12.3 Microdeletion Syndrome |
|
Kyphoscoliosis, Cryptorchidism, Hip dysplasia, Camptodactyly, Hemihypotrophy of lower limb |
ORPHA:412035 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Intestinal malrotation, Rocker bottom foot, Short neck, Camptodactyly of fin... |
ORPHA:99776 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... |
ORPHA:1307 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:250790 |
Ohdo Syndrome |
|
Clinodactyly of the 5th finger, Cryptorchidism, Small scrotum, Micrognathia |
OMIM:249620 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Cryptorchidism |
ORPHA:1338 |
Prader-Willi Syndrome |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:739 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Prader-Willi Syndrome |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
OMIM:176270 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Hip subluxation, Cryptorchidism, Microphallus |
OMIM:300957 |
Cranioectodermal Dysplasia 2 |
|
Syndactyly, Inguinal hernia, Rhizomelia, Craniosynostosis, Short neck, Pectus excavatum, Microgna... |
OMIM:613610 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Hypospadias, Cryptorchidism, Split hand, Clubbing, Cleft palate, Shawl scrotum, Micropenis |
OMIM:600460 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Anteriorly placed anus, Abnormality of the uterus, Triphalang... |
ORPHA:857 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Short neck, Abnormality of the endocrine system, Cryptorchidism, Pseudoh... |
ORPHA:464288 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of... |
OMIM:608728 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Cryptorchidism, Abnormal vertebral morphology |
ORPHA:88639 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Intestinal malrotation, Overlapping toe, Protruding tongue, Camptodacty... |
OMIM:300963 |
Pagod Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Multicystic kidney dysplasia, Optic atrophy, Agonadism... |
ORPHA:991 |
Emanuel Syndrome |
|
Sacral dimple, Inguinal hernia, Congenital hip dislocation, Kyphoscoliosis, Micrognathia, Cryptor... |
ORPHA:96170 |
Martin-Probst Syndrome |
|
Bifid scrotum, Micrognathia, Cryptorchidism, Chordee, Hypoplastic nipples, Micropenis, Hypothyroi... |
OMIM:300519 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Cryptorchidism, Supernumerary nipple, Scoliosis |
OMIM:617635 |
Allan-Herndon-Dudley Syndrome |
|
Abnormality of thyroid physiology, Kyphoscoliosis, Pectus excavatum, Cryptorchidism, Ankle clonus |
ORPHA:59 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
Microphthalmia With Limb Anomalies |
|
Sacral dimple, Toe syndactyly, Unilateral cryptorchidism, Sandal gap, Capitate-hamate fusion, 2-3... |
OMIM:206920 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
11 pairs of ribs, Hyperextensibility of the finger joints, Micrognathia, Decreased nerve conducti... |
OMIM:618356 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Micropenis |
OMIM:618504 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Syndactyly, Inguinal hernia, Short metacarpal, Hypospadias, Short neck, Metata... |
OMIM:123450 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Sacral dimple, Prominent metopic ridge, Overlapping toe, Postaxial polydactyly, Tapered finger, M... |
OMIM:613792 |
Lateral Meningocele Syndrome |
|
Inguinal hernia, Prominent metopic ridge, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, Pe... |
ORPHA:2789 |
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities |
|
Cryptorchidism |
OMIM:619595 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, Hypothyroidism |
OMIM:619908 |
Osteoglophonic Dysplasia |
|
Short neck, Short metatarsal, High palate, Short palm, Short phalanx of finger, Pseudoarthrosis, ... |
OMIM:166250 |
Aicardi Syndrome |
|
Block vertebrae, Proximal placement of thumb, Missing ribs, Precocious puberty, Hiatus hernia, Op... |
OMIM:304050 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Overlapping toe, Cryptorchidism, Optic atrophy, Hypoplastic labia majora, Micropen... |
OMIM:614225 |
19P13.3 Microduplication Syndrome |
|
Unilateral cryptorchidism, Kyphoscoliosis, Micrognathia, Precocious puberty, Long fingers, Hip di... |
ORPHA:447980 |
Kbg Syndrome |
|
Vertebral fusion, Syndactyly, Short neck, Epispadias, Cryptorchidism, Rib fusion, Vertebral arch ... |
OMIM:148050 |
Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Micrognathia, Epispadias, High, narrow palate, Clitoral hypoplasia, Clinodac... |
ORPHA:2554 |
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2 |
|
Cryptorchidism, Absent nipple, Male urethral meatus stenosis, Hypoplastic nipples |
OMIM:616001 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Gastritis, Hypospadias, Micrognathia, Glandular hypospadias, Shawl scrotum |
ORPHA:2575 |
Trisomy 18P |
|
Facial palsy, Micrognathia, Bilateral cryptorchidism, High, narrow palate, Pyloric stenosis, Abno... |
ORPHA:1715 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Diabetes mellitus, Hypospadias, Cryptorchidism, Short 5th finger, Scoliosis, Acromesomelia |
ORPHA:500159 |
17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Diabetes mellitus, Cryptorchidism, Shawl scrotum, Pancreatic aplasia |
ORPHA:261265 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Micrognathia, Hemivertebr... |
OMIM:151050 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Inguinal hernia, Pectus excavatum, Cryptorchidism, Slender finger, Scoliosis, Clinodactyly of the... |
ORPHA:329224 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic h... |
ORPHA:465508 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Long toe, Arachnodactyly, Kyphoscoliosis, Cryptorchidism, Testicular torsion |
ORPHA:75496 |
Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Micrognathia, Cryptorchidism, Optic atrophy, Hip dysplasia, Scoliosis |
ORPHA:494344 |
Tyshchenko Syndrome |
|
Supernumerary nipple, Pectus excavatum, Cryptorchidism, High, narrow palate, Narrow palate, Cleft... |
OMIM:615102 |
Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Decreased serum insulin-like growth factor 1, Pectus excavatum, Cryptorchidism... |
ORPHA:314389 |
Trisomy 20P |
|
Finger syndactyly, Inguinal hernia, Hypospadias, Camptodactyly of finger, Short neck, Micrognathi... |
ORPHA:261318 |
Noonan Syndrome 6 |
|
Pectus excavatum, Cryptorchidism, Abnormal sternum morphology, Short neck |
OMIM:613224 |
Squalene Synthase Deficiency |
|
Hypospadias, Optic nerve hypoplasia, Micrognathia, Bilateral cryptorchidism, Elbow flexion contra... |
OMIM:618156 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Aplas... |
OMIM:181450 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Long toe, Cryptorchidism, Unilateral cryptorchidism |
OMIM:617788 |
Lenz-Majewski Hyperostotic Dwarfism |
|
External genital hypoplasia, Epispadias, High, narrow palate, Abnormal finger morphology, Symphal... |
ORPHA:2658 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macroglossia, Cryptorchidism, Clinodactyly, Short neck |
OMIM:616789 |
Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Small scrotum, Cryptorchidism, Optic atrophy, Micropen... |
OMIM:615663 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Micromelia, Micrognathia, Adrenal hypoplasia, Preaxial polydactyly, Tibial bowing,... |
OMIM:612651 |
Urofacial Syndrome 1 |
|
Cryptorchidism |
OMIM:236730 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Micrognathia, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, C... |
ORPHA:251014 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte... |
OMIM:201750 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Optic disc pallor, Hypospadias, Arachnodactyly, Coxa valga, Elbow dislocation, Cryptorchidism, Me... |
OMIM:620083 |
Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Small scrotum, Hypoplastic ischia, Micrognathia, H... |
ORPHA:85201 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Small scrotum, Facial palsy, Cryptorchidism, Facial diplegia, High palate, Scoliosis, Micropenis |
ORPHA:98905 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, S... |
OMIM:218600 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Hig... |
OMIM:182212 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Finger syndactyly, Hypospadias, Ankle flexion contracture, Tapered finger, Cryptorchidism, Knee f... |
ORPHA:435938 |
Coffin-Siris Syndrome 2 |
|
Inguinal hernia, Brachydactyly, Sandal gap, Cryptorchidism, Cleft palate, Macroglossia, High pala... |
OMIM:614607 |
Noonan Syndrome 13 |
|
Prominent metopic ridge, Overlapping toe, Short neck, Tapered finger, Cryptorchidism, Metatarsus ... |
OMIM:619087 |
Cranioectodermal Dysplasia 1 |
|
High, narrow palate, High palate, Narrow chest, Rhizomelia, Sagittal craniosynostosis, Short toe,... |
OMIM:218330 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect |
OMIM:608681 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Inguinal hernia, Short neck, Micrognathia, Cryptorchidism, Pancreatic lymphangiectasis, Postaxial... |
ORPHA:1655 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Abnormal circulating re... |
OMIM:614736 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Sandal gap, Pectus excavatum, Short toe, Prominent sternum, High palate, Clinod... |
OMIM:617877 |
Tetrasomy 9P |
|
Joint dislocation, Short neck, Micrognathia, High palate, Clinodactyly of the 5th finger, Micrope... |
ORPHA:3310 |
19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Hypospadias, Sandal gap, Craniosynostosis, Short neck, Preco... |
ORPHA:254346 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Cryptorchidism, Coronal craniosynostosis, Small scrotum, Hypogonadism |
ORPHA:228390 |
Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Cryptorchidism |
ORPHA:1237 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... |
OMIM:271640 |
Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Cryptorchidism, Patellar aplasia, Slender l... |
OMIM:613804 |
3-Methylglutaconic Aciduria, Type V |
|
Cryptorchidism, Optic atrophy, Hypospadias, Decreased testicular size |
OMIM:610198 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Sacral dimple, Toe syndactyly, Arachnodactyly, Overlappi... |
ORPHA:505237 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Broad hallux, Short neck, Pectus excavatum, Cryptorchidism, Tapered finger, Short thumb, Microgna... |
OMIM:620224 |
Ogden Syndrome |
|
Microretrognathia, Inguinal hernia, Broad hallux, Cryptorchidism, High, narrow palate, Scoliosis,... |
ORPHA:276432 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Intestinal pseudo-obstruction, A... |
ORPHA:73246 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Cryptorchidism, Spina bifida occulta |
OMIM:618060 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, Congenital hip dislocation, Ulnar deviation of the 3rd... |
ORPHA:456312 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Rectal atresia, Perineal fistula, Rectovaginal fistula, Ectrodactyly, O... |
ORPHA:3016 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa var... |
OMIM:608940 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Intestinal malrotation, Postaxial polydactyly, Micrognathia, Cryptorchidism, Kyphosis, 2-3 toe sy... |
ORPHA:404440 |
Micro Syndrome |
|
Hypoplasia of penis, Micrognathia, Cryptorchidism, Hypoplastic labia minora, Kyphosis, Optic atro... |
ORPHA:2510 |
Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Optic disc pallor, Inguinal hernia, Cryptorchidism, High palate, Polydactyly, ... |
OMIM:618950 |
Floating-Harbor Syndrome |
|
Enlarged joints, Short neck, Renal cyst, Humeral pseudarthrosis, Dislocated radial head, Short me... |
ORPHA:2044 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Hypospadias, Proximal placement of thumb, Short neck, Micrognathia, Cryptorchidism, C... |
OMIM:217980 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Micrognathia, Cryptorchidism, Kyphosis, Spinal canal st... |
ORPHA:1724 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Hypopituitarism, Anterior pituitary hypoplasia, Postaxial polydactyl... |
OMIM:615849 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Omphalocele, Inguinal hernia, Anal stenosis, Bifid uterus, Epispadias, Cryptorchid... |
ORPHA:322 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... |
ORPHA:478 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Abnormalit... |
ORPHA:2378 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Inguinal hernia, Micrognathia, Cryptorchidism, Esophageal atresia, Hypopla... |
ORPHA:3412 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cryptorchidism |
OMIM:618917 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Codas Syndrome |
|
Omphalocele, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, ... |
OMIM:600373 |
Renal Nutcracker Syndrome |
|
Dyspareunia, Orthostatic hypotension, Dysmenorrhea, Vulval varicose vein, Infertility, Abnormal a... |
ORPHA:71273 |
Snijders Blok-Fisher Syndrome |
|
Cryptorchidism |
OMIM:618604 |
Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Supernumerary nipple, Cryptorchidism, Optic atrophy, Clino... |
ORPHA:3255 |
Thoraco-Abdominal Enteric Duplication |
|
Camptodactyly of finger, Duodenal stenosis, Intestinal malrotation, Missing ribs |
ORPHA:1759 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Kyphosis, Scoliosis, Delayed puberty,... |
OMIM:619718 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Fryns Syndrome |
|
Omphalocele, Multicystic kidney dysplasia, Aganglionic megacolon, Hypospadias, Intestinal malrota... |
ORPHA:2059 |
Laurence-Moon Syndrome |
|
Micropenis, Small scrotum, Polydactyly |
OMIM:245800 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Short neck, Micrognathia, Multiple joint dislocation, Pectus carinatum, Knee dislocation, Shoulde... |
OMIM:245600 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Joint dislocation, Thoracic scoliosis, Equinus calcaneus, Micrognathia, Knee dislocation, Shoulde... |
ORPHA:536532 |
Noonan Syndrome 5 |
|
Cubitus valgus, Cryptorchidism, Abnormal sternum morphology, Short neck |
OMIM:611553 |
Hypertelorism, Preauricular Sinus, Punctal Pits, And Deafness |
|
Shawl scrotum |
OMIM:614187 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Renal cyst, Clinodactyly of the 5th finger, Hypothyroidism, Abnormality of t... |
ORPHA:1606 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Ritscher-Schinzel Syndrome 4 |
|
Tapered finger, Cryptorchidism, Hip dislocation, Narrow palate, Hip dysplasia, High palate, Scoli... |
OMIM:619435 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Th... |
ORPHA:249 |
Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Micrognathia, Elbow dislocation, Cryptorchidism, Irregular femoral epiph... |
OMIM:613805 |
6Q Terminal Deletion Syndrome |
|
Hallux valgus, Aplasia/Hypoplasia of the ribs, Prominent metopic ridge, Hypospadias, Short neck, ... |
ORPHA:75857 |
Charge Syndrome |
|
Bifid scrotum, Abnormal tibia morphology, Hemivertebrae, Clinodactyly of the 5th finger, Micropen... |
ORPHA:138 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Hypospadias, Arachnodactyly, Pectus excavatum, Cryptorchidism, Kyphosis, High, ... |
ORPHA:96169 |
Pontocerebellar Hypoplasia Type 7 |
|
Micrognathia, Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, High ... |
ORPHA:284339 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Sacral dimple, Brachydactyly, Cleft soft palate, Kyphoscoliosis, Micrognathia, Cryptorchidism, Cl... |
OMIM:616331 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... |
ORPHA:65681 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Intestinal obstruction, Micrognathia, Cryptorchidism, Sm... |
ORPHA:2323 |
X-Linked Intellectual Disability, Seemanova Type |
|
Cryptorchidism, Hypogonadism |
ORPHA:85323 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Optic atrophy, Limited mobility of proximal interphalangea... |
OMIM:222300 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sandal gap, Supernumerary nipple, Pectus excavatum, Cryptorchidism, 3-4 finger cutaneous syndacty... |
OMIM:612530 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Overlapping toe, Cryptorchidism, High, narrow palate, Cleft palate, Anteriorly placed anus, Hip d... |
OMIM:618494 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Myopathy, Centronuclear, X-Linked |
|
Arachnodactyly, Facial palsy, Cryptorchidism, Pyloric stenosis, Slender toe, High palate |
OMIM:310400 |
Ohdo Syndrome, Sbbys Variant |
|
Hypospadias, Micrognathia, Cryptorchidism, Cleft palate, Patellar dislocation, Long thumb, Hypoth... |
OMIM:603736 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Hypospadias, Intestinal malrotation, Arachnodactyly, Sandal gap, Pectus excavatum, Cryptorchidism... |
OMIM:617602 |
Fg Syndrome Type 1 |
|
Finger syndactyly, Sacral dimple, Inguinal hernia, Hypospadias, Optic nerve hypoplasia, Abnormal ... |
ORPHA:93932 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Inguinal hernia, Prominent metopic ridge, Hypospadias, Supernumerary nipple, Cryptorchidism, Cont... |
OMIM:618109 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Hypospadias, Tapered finger, Cryptorchidism, Hip dysplasia, Scoliosis, Labial hypoplasia, Clinoda... |
OMIM:619293 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Microretrognathia, Inguinal hernia, Contracture of the proximal interphalangeal joint of the 2nd ... |
OMIM:300998 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy... |
OMIM:150250 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Short neck, Tapered finger, Multiple joint dislocation, Hip dislocation, ... |
OMIM:618395 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Short neck, Cryptorchidism, Cleft palate, Drumstick terminal phalanges, Bifid ... |
OMIM:612938 |
Cardiofacioneurodevelopmental Syndrome |
|
Micrognathia, Cryptorchidism, Kyphosis, Cleft palate, Camptodactyly, Clinodactyly of the 5th fing... |
OMIM:619123 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus, Micrognathia |
OMIM:266810 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossification, Preaxial polydactyly, Rena... |
OMIM:210710 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Bifid scrotum, Abnormal penis morphology, Sacral dimple, Finger syndactyly, Hypospadias, Broad ha... |
ORPHA:2211 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bo... |
ORPHA:73230 |
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Bifid scrotum, Hallux valgus, Thumb contracture, Small scrotum, Tapered finger, Duplication of di... |
ORPHA:324540 |
8P Inverted Duplication/Deletion Syndrome |
|
Short neck, Precocious puberty, Cryptorchidism, Pectus excavatum, High, narrow palate, Long finge... |
ORPHA:96092 |
Noonan Syndrome 8 |
|
Cryptorchidism, Abnormal sternum morphology, Short neck |
OMIM:615355 |
Elsahy-Waters Syndrome |
|
Bifid scrotum, Anal stenosis, Brachydactyly, Hypospadias, Bilateral cryptorchidism, Pectus excava... |
OMIM:211380 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Inguinal hernia, Short neck, Micrognathia, Cryptorchidism, Pancreatic lymphangiectasis, Postaxial... |
OMIM:235255 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, C... |
ORPHA:1507 |
Lymphatic Filariasis |
|
Ankle swelling, Orchitis, Epididymitis, Knee osteoarthritis, Vaginal hydrocele, Hydrocele testis,... |
ORPHA:2035 |
Hydrolethalus |
|
Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Submucous cleft hard palate... |
ORPHA:2189 |
Buratti-Harel Syndrome |
|
Hypospadias, Broad hallux, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard pal... |
OMIM:619314 |
Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Aplasia/Hypoplasia of the tongue, Sandal gap, Tapered finger, ... |
ORPHA:193 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Hypothyro... |
ORPHA:268261 |
Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Osteopenia, Cardiomegaly |
OMIM:269920 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Hypospadias, Proximal placement of thumb, Short neck, Tapered finger, Crypt... |
ORPHA:251071 |
20Q13.33 Microdeletion Syndrome |
|
Hallux valgus, Sacral dimple, Hypospadias, Decreased scrotal rugation, Tapered finger, Abnormal l... |
ORPHA:261311 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... |
OMIM:223800 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Missing ribs, Short neck, Absent thumb, Absent radius, Humeroradial synostosis,... |
OMIM:251230 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
Emanuel Syndrome |
|
Sacral dimple, Inguinal hernia, Congenital hip dislocation, Intestinal malrotation, Micrognathia,... |
OMIM:609029 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Coxa vara, Metaphyseal cupping of metacarpals, Thoracic kyphosi... |
OMIM:300232 |
Noonan Syndrome 14 |
|
Scapular winging, Short neck, Pectus excavatum, Cryptorchidism, Kyphosis, High, narrow palate, Pe... |
OMIM:619745 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Craniosynostosis, Hyperlordosi... |
ORPHA:794 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
3Mc Syndrome 2 |
|
Hypospadias, Limited elbow movement, Craniosynostosis, Cryptorchidism, Hip dislocation, Cleft pal... |
OMIM:265050 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Joint dislocation, Micrognathia, Metaphyseal widening, Abnormal finger morphology, Pectus carinat... |
ORPHA:536471 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
Cornelia De Lange Syndrome 1 |
|
Proximal placement of thumb, Short neck, Micromelia, High, narrow palate, Micrognathia, Renal cys... |
OMIM:122470 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Micrognathia, Abnormal rib morphology, Abnormal pelv... |
ORPHA:2097 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Kyphoscoliosis, Short neck, Pectus excavatum, Cryptorchi... |
OMIM:309583 |
Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Micromelia, Short neck, Micrognathia, Epispadias, High, narrow palate, Hemiv... |
ORPHA:3107 |
Duplication Of Urethra |
|
Bifid scrotum, Hypospadias, Septate vagina, Rectourethral fistula, Epispadias, Coronal hypospadia... |
ORPHA:237 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Finger syndactyly, Brachydactyly, Pectus excavatum, Cryptorchidism, Short toe, Shawl... |
ORPHA:1519 |
Distal Duplication 17Q |
|
Hallux valgus, Arachnodactyly, Overlapping toe, Rhizomelia, Micrognathia, Cryptorchidism, Cleft p... |
ORPHA:3379 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... |
ORPHA:392 |
Igg4-Related Retroperitoneal Fibrosis |
|
Low back pain, Hashimoto thyroiditis, Hydrocele testis, Retrograde ejaculation, Impotence, Rheuma... |
ORPHA:49041 |
Microlissencephaly-Micromelia Syndrome |
|
Hypoparathyroidism, 11 pairs of ribs, Micromelia, Short neck, Abnormal circulating calcium-phosph... |
ORPHA:50810 |
Noonan Syndrome 4 |
|
Pectus excavatum of inferior sternum, Short neck, Pectus excavatum, Cryptorchidism, Abnormal ster... |
OMIM:610733 |
Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Multicystic kidney dysplasia, Aganglionic megacolon, Tarsal synostosis, Crypto... |
ORPHA:2473 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Micrognathia, Metatarsus adductus, Cryptorchidism, Optic nerve dysplasia, Cleft palate, Hypoplasi... |
OMIM:214110 |
Toluene Embryopathy |
|
Cryptorchidism, Micrognathia, Tapered finger |
ORPHA:1920 |
Melnick-Needles Syndrome |
|
Omphalocele, Bowing of the long bones, Delayed cranial suture closure, Coxa valga, Micrognathia, ... |
ORPHA:2484 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cryptorchidism, Diabetes mellitus, Optic atrophy |
OMIM:249270 |
Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Wormian bone... |
OMIM:259440 |
Noonan Syndrome 9 |
|
Cryptorchidism, Short neck |
OMIM:616559 |
Smith-Kingsmore Syndrome |
|
Rhizomelia, Short proximal phalanx of finger, Cryptorchidism, Thoracic hypoplasia, Short distal p... |
OMIM:616638 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Cryptorchidism, Kyphosis, Small hand, Short foot, Hip dysplasia, Hypogonadism, Scoliosis, Micropenis |
ORPHA:500055 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hypospadias, Optic nerve hypoplasia, Rocker bottom foot, Coxa valga, Craniosynostosis, Cryptorchi... |
OMIM:301056 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Unilateral cryptorchidism, Cleft palate, Micrognathia |
OMIM:300946 |
Pitt-Hopkins Syndrome |
|
Sacral dimple, Short fourth metatarsal, Overlapping toe, Short fifth metatarsal, Supernumerary ni... |
OMIM:610954 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, High palate, Triphalangeal t... |
OMIM:201170 |
Hajdu-Cheney Syndrome |
|
Short neck, Micrognathia, Absent frontal sinuses, Renal cyst, High palate, Dislocated radial head... |
OMIM:102500 |
Tarp Syndrome |
|
Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus excavatum, Cry... |
ORPHA:2886 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Short neck, Cryptorchidism, Protein-losing enteropathy, Camptodactyly, Decreased circulating T4 c... |
OMIM:608104 |
Lig4 Syndrome |
|
Cryptorchidism, Type II diabetes mellitus, Clinodactyly of the 5th finger, Micropenis, Hypothyroi... |
OMIM:606593 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Brachydactyly, Micrognathia, Pectus excavatum, Cryptorchidism, Cubitus valgus, Furrowed tongue, S... |
OMIM:300534 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Bilateral cryptorchidism, Kyphosis, Pectus excavatum, Abnormal form of the verte... |
ORPHA:3042 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy, Dense calvaria |
OMIM:252920 |
Chromosome 1P35 Deletion Syndrome |
|
Micrognathia, Cryptorchidism, Increased femoral anteversion, Congenital hypothyroidism, Hip dyspl... |
OMIM:617930 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Genu recurvatum, Cryptorchidism, Kyphosis, Narrow palate, Scoliosis, Micropenis |
ORPHA:364028 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
Sclerosteosis 1 |
|
Papilledema, Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, Optic atrophy, Irregu... |
OMIM:269500 |
Baraitser-Winter Syndrome 1 |
|
Cryptorchidism, Micropenis, Duplication of phalanx of hallux, Short neck |
OMIM:243310 |
Beta-Ureidopropionase Deficiency |
|
Bifid scrotum, Anal atresia, Bladder exstrophy, Scoliosis |
OMIM:613161 |
Carpenter Syndrome 2 |
|
Short neck, Bilateral cryptorchidism, High, narrow palate, Preaxial polydactyly, Coxa vara, Pectu... |
OMIM:614976 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
Cerebellofaciodental Syndrome |
|
Tapered finger, Short neck, Cryptorchidism, Shortening of all distal phalanges of the fingers, Ge... |
OMIM:616202 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of the knee, Lumbar hyperlordosis, Broad hallux, External genital hypoplasia, Short n... |
ORPHA:251028 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Knee flex... |
ORPHA:3103 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cuta... |
OMIM:270400 |
Severe Congenital Nemaline Myopathy |
|
Hypospadias, Facial palsy, Abnormal thorax morphology, Thin ribs, Facial diplegia, Micropenis, Ad... |
ORPHA:171430 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Decreased nerve conduction velocity, Cryptorchidism, Ankle clonus, Scoliosis, ... |
ORPHA:565624 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Cystic Fibrosis |
|
Absent vas deferens |
ORPHA:586 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante... |
OMIM:253000 |
3Mc Syndrome |
|
Supernumerary nipple, Hyperlordosis, Bilateral cryptorchidism, Craniosynostosis, Hip dislocation,... |
ORPHA:293843 |
Lig4 Syndrome |
|
Hypoplasia of penis, Micrognathia, Malabsorption, Cryptorchidism, Type II diabetes mellitus, Clin... |
ORPHA:99812 |
Dowling-Degos Disease |
|
Arthritis, Scrotal hyperpigmentation, Penile freckling |
ORPHA:79145 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Cryptorchidism, Hypospadias, Camptodactyly of finger |
ORPHA:1194 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... |
ORPHA:1106 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Inguinal hernia, Short neck, Pectus excavatum, Cryptorchidism, Kyphosis, Microg... |
OMIM:130720 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Camptodactyly of finger, Short neck, Micrognathia, Crypto... |
ORPHA:284160 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Narrow chest, Short palm, Abnormal vertebral se... |
ORPHA:90652 |
Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger synda... |
OMIM:101200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
11 pairs of ribs, Multicystic kidney dysplasia, Optic nerve dysplasia, Micropenis, Decreased test... |
OMIM:615287 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Inguinal hernia, Short metacarpal, Craniosynostosis, Micrognathia, Abnormality of ... |
ORPHA:166035 |
Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Multicystic kidney dysplasia, Bowing of the long bones, Micromelia... |
ORPHA:1318 |
Schwartz-Jampel Syndrome |
|
Micromelia, Short neck, Micrognathia, Coxa vara, Pectus carinatum, High palate, Wrist flexion con... |
ORPHA:800 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Inguinal hernia, Sandal gap, Supernumerary nipple, Pectus excavatum, Cryptor... |
ORPHA:1812 |
Achondrogenesis Type 1B |
|
Micromelia, Short neck, Micrognathia, Short thorax, Abnormal rib morphology, Short foot, Narrow c... |
ORPHA:93298 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Syndactyly, Sacral dimple, Short neck, Micrognathia, Cryptorchidism, Kyphosis, Clino... |
OMIM:616894 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Microretrognathia, Inguinal hernia, Recurrent joint dislocation, Cervical kyphosis, Kyphoscoliosi... |
ORPHA:2953 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral bodies, High p... |
ORPHA:2180 |
Developmental And Epileptic Encephalopathy 66 |
|
Clinodactyly of the 5th finger, Cryptorchidism |
OMIM:618067 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Clinodactyly of the 5th finger, Cryptorchidism, Micrognathia |
OMIM:608093 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Thoracolumbar scoliosis, Short neck, Bilateral cryptorchidism, Pectus excavatum, Optic disc colob... |
OMIM:300472 |
Orofaciodigital Syndrome V |
|
Aganglionic megacolon, Unilateral cryptorchidism, Hamartoma of tongue, Sandal gap, Postaxial poly... |
OMIM:174300 |
Meier-Gorlin Syndrome 7 |
|
Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, High palate, Micropeni... |
OMIM:617063 |
Craniofacial Dyssynostosis With Short Stature |
|
Cryptorchidism, Hypospadias, Pyloric stenosis |
OMIM:218350 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Prominent metopic ridge, Small scrotum, Short neck, Cryptorchidism, Patellar aplasia, Patellar hy... |
ORPHA:495818 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Short neck, Micrognathia, Cryptorchidism, Cleft palate, High palate... |
OMIM:614230 |
Wiedemann-Steiner Syndrome |
|
Sacral dimple, Tapered finger, Micrognathia, Cryptorchidism, Short toe, Contracture of the distal... |
OMIM:605130 |
Steinfeld Syndrome |
|
Absent gallbladder, Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypopl... |
OMIM:184705 |
Macs Syndrome |
|
Hypergonadotropic hypogonadism, Micrognathia, Pectus excavatum, Cryptorchidism, High palate, Scol... |
OMIM:613075 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Hypospadias, Arachnodactyly, Kyphoscoliosis, Pectus excavatum, Cryptorchidism, Kyphosis... |
ORPHA:3063 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Thickened cortex of lo... |
OMIM:253250 |
Tatton-Brown-Rahman Syndrome |
|
Kyphoscoliosis, Cryptorchidism, Short toe, Widely spaced toes, Neuroendocrine neoplasm |
ORPHA:404443 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Short neck, Cryptorchidism, Macroglossia, High palate, Camptodactyly, Clinodactyly |
ORPHA:369891 |
Opitz-Kaveggia Syndrome |
|
Short neck, Micrognathia, Anteriorly placed anus, Prominent fingertip pads, Syndactyly, Lumbar hy... |
OMIM:305450 |
Hatipoglu Immunodeficiency Syndrome |
|
Cryptorchidism, Inguinal hernia, Hypospadias, Hemivertebrae |
OMIM:620331 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Proximal placement of thumb, Cryptorchidism, Postaxial foot polydactyly, High ... |
ORPHA:139471 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Syndactyly, Pectus excavatum, Cryptorchidism, Hypoplastic nipples, Clinodactyly of the 5th finger... |
OMIM:618505 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Malabsorption, Micrognathia, Cryptorchidism, Pyloric s... |
ORPHA:912 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Micrognathia, Cryptorchidism, 2-3 toe syndactyly, Clubbing of toes, Clubbing of fingers, High palate |
ORPHA:3304 |
Craniolenticulosutural Dysplasia |
|
Delayed closure of the anterior fontanelle, Cryptorchidism, Posterior wedging of vertebral bodies... |
OMIM:607812 |
Cog5-Cdg |
|
Camptodactyly of finger, Short neck, Cryptorchidism, Genu valgum, Finger clinodactyly, High palat... |
ORPHA:263487 |
16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Proximal placement of thumb, Micrognathia, Cryptorchidism, Kyphosis, Hip ... |
ORPHA:261250 |
Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Hypospadias, Overlapping toe, Proximal placement of thumb, Tapered finger, Crypt... |
OMIM:616737 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid scrotum, Hypospadias, Overlapping toe, Craniosynostosis, Optic atrophy, Narrow palate, Hypo... |
OMIM:123790 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Cryptorchidism, Micropenis, Small scrotum, Microphallus |
OMIM:300486 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypospadias, Decreased response to growth hormone s... |
ORPHA:363528 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly... |
ORPHA:2008 |
Williams-Beuren Region Duplication Syndrome |
|
Cryptorchidism, High palate, Decreased response to growth hormone stimulation test, Micrognathia |
OMIM:609757 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Short neck, Micrognathia, Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the... |
ORPHA:1486 |
Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Micrognath... |
ORPHA:783 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Hypospadias, Craniosynostosis, Absent thumb, Micrognathia, Cryptorchidism... |
ORPHA:96097 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Micrognathia, Renal cyst, Anteriorly placed anus, Glossoptosis, High ... |
OMIM:117650 |
Pontocerebellar Hypoplasia, Type 7 |
|
Micrognathia, Cryptorchidism, Optic atrophy, Pectus carinatum, High palate, Ambiguous genitalia, ... |
OMIM:614969 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Lactose intolerance, Hypospadias, Cryptorchidism, Intestinal polyp, Thoracic hypoplasia |
ORPHA:457485 |
Ochoa Syndrome |
|
Cryptorchidism |
ORPHA:2704 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Abnormal f... |
ORPHA:2769 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Intestinal malrotation, Craniosynostosis, Cryptorchidism, Optic atrophy, Cleft... |
ORPHA:457193 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Craniosynostosis, Tapered finger, Micrognathia, Cryptorchidism, Small hand, Hip... |
OMIM:620005 |
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
|
Hypospadias, Supernumerary nipple, Proximal placement of thumb, Glandular hypospadias, Narrow pal... |
OMIM:604314 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... |
ORPHA:168558 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Inguinal hernia, Tapered toe, Tapered finger, Bilateral cryptorchidism, Celiac dis... |
ORPHA:544488 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... |
ORPHA:289548 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Short metatarsal, Triphalangeal thumb, Hypothyroidism, 2-4 finger syndactyly, Mult... |
OMIM:107480 |
Monosomy 9P |
|
Hypospadias, Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Cryptorchi... |
ORPHA:261112 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... |
OMIM:617604 |
Catel-Manzke Syndrome |
|
Joint dislocation, Short neck, Micrognathia, Pectus carinatum, Glossoptosis, High palate, Clinoda... |
OMIM:616145 |
Cockayne Syndrome Type 2 |
|
Male hypogonadism, Kyphosis, Scoliosis, Cryptorchidism |
ORPHA:90322 |
Craniofacioskeletal Syndrome |
|
Barrel-shaped chest, Absent gallbladder, Hypospadias, Micrognathia, Cryptorchidism, Hypoplastic f... |
OMIM:300712 |
Spondyloocular Syndrome |
|
Long toe, Unilateral cryptorchidism, Duodenal ulcer, Arachnodactyly, Femur fracture, Overlapping ... |
OMIM:605822 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Cryptorchidism |
OMIM:620012 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Septo-optic dysplasia, Optic nerve hypoplasia, Anterior pituitary hypoplasia... |
ORPHA:3157 |
Developmental And Epileptic Encephalopathy 95 |
|
Inguinal hernia, Short fourth metatarsal, Brachydactyly, Cryptorchidism, Pectus carinatum, Macrog... |
OMIM:618143 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Cryptorchidism, Postaxial polydactyly |
OMIM:615824 |
Bartsocas-Papas Syndrome 1 |
|
Short neck, Bilateral cryptorchidism, Micrognathia, Hypoplastic iliac wing, Micropenis, Pterygium... |
OMIM:263650 |
Mckusick-Kaufman Syndrome |
|
Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Crypto... |
OMIM:236700 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, High, n... |
ORPHA:3258 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial palsy, Primary amenorrhea... |
OMIM:157640 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Abnormally ossified vertebrae, Bowing of the long bones, Radial bowing, Intestinal m... |
ORPHA:3035 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Supernumerary nipple, Tapered finger, Cryptorchidism, Short thumb, Chordee, Clinodactyly of the 5... |
OMIM:616728 |
Simpson-Golabi-Behmel Syndrome |
|
Hypoplasia of penis, Congenital hip dislocation, Short neck, High, narrow palate, Vertebral segme... |
ORPHA:373 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,... |
OMIM:602196 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Finger syndactyly, Small scrotum, Toe syndactyly, Anterior pituitary hypopla... |
ORPHA:264200 |
Schimke Immunoosseous Dysplasia |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Bilateral cryptorchidism, Elevated circ... |
OMIM:242900 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Cat-Eye Syndrome |
|
Hip dysplasia, Abnormal rib morphology, Anal atresia |
ORPHA:195 |
Distal Deletion 3P |
|
Sacral dimple, Inguinal hernia, Short neck, Micrognathia, Cryptorchidism, Postaxial hand polydact... |
ORPHA:1620 |
Reni Syndrome |
|
Cryptorchidism, Hypogonadism, Adrenal insufficiency, Micropenis, Hypothyroidism |
OMIM:617575 |
46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... |
OMIM:400045 |
Noonan Syndrome With Multiple Lentigines |
|
Scapular winging, Hypospadias, Pectus excavatum, Cryptorchidism, Decreased fertility, Pectus cari... |
ORPHA:500 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Hypospadias, Decreased response to growth hormone s... |
ORPHA:96182 |
1Q41Q42 Microdeletion Syndrome |
|
Cryptorchidism, Submucous cleft hard palate, Hypergonadotropic hypogonadism, Cleft palate |
ORPHA:250999 |
Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Epiphyseal stippling, Cardiomyopathy |
OMIM:256550 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Trisomy 18 |
|
Omphalocele, Microretrognathia, Camptodactyly of finger, Cryptorchidism, Esophageal atresia, Post... |
ORPHA:3380 |
Schuurs-Hoeijmakers Syndrome |
|
Cryptorchidism, Volvulus |
OMIM:615009 |
Ring Chromosome 13 Syndrome |
|
Bifid scrotum, Aplasia/Hypoplasia of the thumb, Hypoplasia of the gallbladder, Hypospadias, Parti... |
ORPHA:96176 |
Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Prominent metopic ridge, Micrognathia, Bi... |
OMIM:617746 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Syndactyly, Streak ovary, Hypospadias, Jejunal atresia, Kyphoscoliosis, Ileal atresi... |
OMIM:618820 |
Say-Barber-Miller Syndrome |
|
Thoracic kyphoscoliosis, Craniosynostosis, Micrognathia, Cryptorchidism, Optic atrophy, Hip dislo... |
ORPHA:3132 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Inguinal hernia, Toe syndactyly, Cryptorchidism, Short foot, Hand polydacty... |
ORPHA:250989 |
Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Decreased response to growth hormone stimulation test, Absent thumb, Cryptorchidis... |
OMIM:603467 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Hig... |
ORPHA:235 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Supernumerary nipple, Cryptorchidism, Sprengel anomaly, High palate, Micropenis |
OMIM:618929 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Inguinal hernia, Small scrotum, Supernumerary nipple, Micrognathia, Cryptorchidism, ... |
OMIM:618454 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Pectus excavatum, Cryptorchidism, High, narrow palate, ... |
ORPHA:1101 |
Multifocal Atrial Tachycardia |
|
Cryptorchidism, Hypothyroidism |
ORPHA:3282 |
Hamamy Syndrome |
|
Hypoparathyroidism, Syndactyly, Inguinal hernia, Long toe, Down-sloping shoulders, Craniosynostos... |
OMIM:611174 |
Pseudoaminopterin Syndrome |
|
Limited elbow movement, Micrognathia, High palate, Synostosis of carpal bones, Sagittal craniosyn... |
ORPHA:221120 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Small scrotum, Toe syndactyly, Hyperlordosis, Micrognathia, Bilateral cleft li... |
ORPHA:3253 |
Joubert Syndrome 21 |
|
Optic atrophy, Megalopapilla, Renal cyst, Bell-shaped thorax, Short ribs |
OMIM:615636 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Cryptorchidism, Small scrotum, Cleft palate |
ORPHA:2728 |
Wiedemann-Steiner Syndrome |
|
Aplasia/Hypoplasia of the ribs, Sacral dimple, Rhizomelia, Decreased response to growth hormone s... |
ORPHA:319182 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Hyperlordosis, Short neck, Kyphosis, Coxa valga, Sho... |
ORPHA:582 |
X-Linked Mandibulofacial Dysostosis |
|
Pectus excavatum, Cryptorchidism, High palate, Micrognathia |
ORPHA:1131 |
Fanconi Anemia, Complementation Group P |
|
Micrognathia, Absent thumb, Cryptorchidism, Short thumb, Hypoplasia of the radius |
OMIM:613951 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Bilateral cryptorchidism, Hip dysplasia, Kyphoscoliosis |
ORPHA:466722 |
Ellis Van Creveld Syndrome |
|
Hypospadias, Micromelia, Epispadias, Cryptorchidism, Short thorax, Capitate-hamate fusion, Genu v... |
ORPHA:289 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Cryptorchidism, High palate, Kyphosis |
OMIM:619244 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Prominent metopic ridge, Pectus excavatum, Cryptorchidism, Kypho... |
OMIM:610443 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Hypospadias, Arachnodacty... |
ORPHA:280 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
Hallermann-Streiff Syndrome |
|
Hyperlordosis, Pectus excavatum, Cryptorchidism, High, narrow palate, Optic disc coloboma, Metaph... |
OMIM:234100 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, Micropenis |
OMIM:610125 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Hypospadias, Cryptorchidism, 2-3 toe cutaneous syndactyly, Short foot, High palate, Clinodactyly ... |
OMIM:300260 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Short neck, Micrognathia, Abnormal form of the ... |
ORPHA:818 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
High palate, Clinodactyly of the 5th finger, Hypothyroidism, Bifid uvula, Abnormality of the anus... |
OMIM:607872 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Inguinal hernia, Anal stenosis, Hypospadias |
OMIM:601499 |
Chromosome 18Q Deletion Syndrome |
|
Inguinal hernia, Toe syndactyly, Hypospadias, Decreased response to growth hormone stimulation te... |
OMIM:601808 |
Noonan Syndrome 1 |
|
Male infertility, Pectus excavatum of inferior sternum, Hypospadias, Kyphoscoliosis, Short neck, ... |
OMIM:163950 |
Chromosome 15Q25 Deletion Syndrome |
|
Inguinal hernia, Short neck, Pectus excavatum, Cryptorchidism, Long fingers, Cleft palate |
OMIM:614294 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Beaded ribs, Thin ribs, Bell-shaped thorax, Tibial bowing,... |
OMIM:166210 |
Arthrogryposis Multiplex Congenita 5 |
|
11 pairs of ribs, Optic disc pallor, Inguinal hernia, Rocker bottom foot, Kyphoscoliosis, Short n... |
OMIM:618947 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Craniosynostosis, Micromelia, Micrognathia, Split hand, Abnormal rib morpholog... |
ORPHA:2145 |
Nablus Mask-Like Facial Syndrome |
|
Sandal gap, Short hallux, Short neck, Tapered finger, Cryptorchidism, Clinodactyly, Craniosynosto... |
OMIM:608156 |
Bachmann-Bupp Syndrome |
|
Clinodactyly of the 5th finger, Cryptorchidism, High palate |
OMIM:619075 |
Cleidocranial Dysplasia |
|
Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Narrow chest, Hypoplastic inferior il... |
ORPHA:1452 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Short palm, Thyroid lymphangiectasia, Pectus excavatum, Cryptorchidism, Rectal prolapse, Small ha... |
OMIM:235510 |
White Forelock With Malformations |
|
Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi... |
ORPHA:2475 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchidism, Distal widening... |
OMIM:602535 |
Omodysplasia 1 |
|
Short humerus, Increased fibular diameter, Rhizomelia, Short neck, Limited knee flexion, Cryptorc... |
OMIM:258315 |
Rubinstein-Taybi Syndrome 1 |
|
Premature thelarche, Micrognathia, Bilateral cryptorchidism, High, narrow palate, Papillary cysta... |
OMIM:180849 |
Orofacial Cleft 15 |
|
Cryptorchidism |
OMIM:616788 |
Native American Myopathy |
|
Micrognathia, Cryptorchidism, Cleft palate, Abnormal curvature of the vertebral column, High pala... |
ORPHA:168572 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Hypospadias, Ankle flexion contracture, Tapered finger, Pectus excavatum, Cryp... |
ORPHA:464311 |
Bardet-Biedl Syndrome 20 |
|
Papilledema, Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe... |
OMIM:619471 |
Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Sacral dimple, Inguinal hernia, Micrognathia, Cryptorchidism, Cleft palate, Polydact... |
OMIM:247200 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Short metacarpal, Congenital hip dislocation, Pectus excavatum, Cryptorchidism, ... |
OMIM:617137 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Sh... |
OMIM:227650 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Micrognathia, Short foot, High palate, Shawl scrotum, ... |
ORPHA:1974 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Hemivertebrae, Gonadotropin deficiency, Micropenis, Bifid uvul... |
ORPHA:672 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Small scrotum, Hypospadias, Short neck, Pectus excavatum, Cryptorchidism, Tapered finger, Long fi... |
OMIM:616734 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Cleft palate, Scoliosis, Cervical C2/C3 vertebral fusion, Sp... |
OMIM:118100 |
Noonan Syndrome |
|
Hypogonadotropic hypogonadism, Micrognathia, Pectus excavatum, Cryptorchidism, Pectus carinatum, ... |
ORPHA:648 |
Noonan Syndrome 2 |
|
Short neck, Pectus excavatum, Cryptorchidism, Micrognathia, Pectus carinatum, Shield chest, Abnor... |
OMIM:605275 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Osteoporosis, Congenital hypertrophy o... |
OMIM:239850 |
Aymé-Gripp Syndrome |
|
Inguinal hernia, Prominent metopic ridge, Rocker bottom foot, Craniosynostosis, Tapered finger, C... |
ORPHA:1272 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Micrognathia, Cryptorchidism, Kyphosis, Increased femoral anteversion, High palate, Scoliosis, Mi... |
OMIM:619005 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Short neck, Abnormal rib morphology, Small hand, Short foot, Micropenis, Spina bifida occulta, Th... |
ORPHA:488434 |
Kleefstra Syndrome 1 |
|
Hypospadias, Protruding tongue, Cryptorchidism, Macroglossia, Micropenis, Brachydactyly |
OMIM:610253 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Hypospadias, Rocker bottom foot, Adrenal hypoplasia, Protruding tongue, Metata... |
OMIM:214100 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
Pontocerebellar Hypoplasia, Type 10 |
|
Kyphoscoliosis, Tapered finger, Short neck, Cryptorchidism, High palate |
OMIM:615803 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Inguinal hernia, Overlapping toe, Supernumerary nipple, Tapered finger, Cryptorchidism, 2-3 toe s... |
OMIM:618653 |
Gracile Bone Dysplasia |
|
Flared metaphysis, Thin ribs, Slender long bone, Micropenis, Ankyloglossia, Brachydactyly |
OMIM:602361 |
Genitopatellar Syndrome |
|
Small scrotum, Congenital hip dislocation, Micrognathia, Knee flexion contracture, Anteriorly pla... |
OMIM:606170 |
Costello Syndrome |
|
Short neck, Cryptorchidism, Narrow palate, Ulnar deviation of finger, Macroglossia |
ORPHA:3071 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Optic disc pallor, Toe syndactyly, Hypospadias, Anterior pituitary hypoplasia, Ara... |
ORPHA:464306 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Inguinal hernia, Long clavicles, Arachnodactyly, Overlapping toe, Micrognathia, Biliary hyperplas... |
ORPHA:83617 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Inguinal hernia, Prominent metopic ridge, Unilateral cryptorchidism, Anterior pituitary hypoplasi... |
OMIM:613457 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Omphalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Adrenal hypoplasia, Microg... |
ORPHA:2166 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, High palate, Abnormality of the uterus, Triphalangeal th... |
ORPHA:84 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
Mend Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Micrognathia, ... |
ORPHA:401973 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy |
OMIM:212140 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short neck, Micrognathia, Clitoral hypoplasia, High palate, Short palm, Micropenis, Duplication o... |
OMIM:180700 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology |
ORPHA:1506 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Absent gallbladder, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing... |
ORPHA:3186 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pect... |
ORPHA:175 |
Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Supernumerary nipple, Short neck, Hiatus hernia, Cryptorchidism, Tapered f... |
ORPHA:2896 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Abnormal rib morphology, Abnormal for... |
ORPHA:2876 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Unilateral cryptorchidism, Intestinal malrotation, Cryptorchidism, 2-3 toe syndact... |
OMIM:618280 |
Acromelic Frontonasal Dysplasia |
|
Anterior pituitary hypoplasia, Cryptorchidism, Patellar hypoplasia, Preaxial foot polydactyly, Hy... |
ORPHA:1827 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
Carey-Fineman-Ziter Syndrome 1 |
|
Facial palsy, Spinal rigidity, Tapered finger, Cryptorchidism, Micrognathia, Cleft palate, Glosso... |
OMIM:254940 |
Au-Kline Syndrome |
|
Sacral dimple, Prominent metopic ridge, Overlapping toe, Thoracolumbar scoliosis, Supernumerary n... |
OMIM:616580 |
Chromosome 17Q12 Deletion Syndrome |
|
Short palm, Long toe, Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Long fingers, U... |
OMIM:614527 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Toe syndactyly, Proximal placement of thumb, Short neck, Limited elbow movement, Cryptorchidism, ... |
OMIM:610759 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Intestinal malrotation, Cryptorchidism, Genu valgum, Micropenis, Duodenal atresia |
OMIM:617798 |
Phakomatosis Pigmentokeratotica |
|
Precocious puberty, Cryptorchidism, Pheochromocytoma, Hemiatrophy, Scoliosis |
ORPHA:2874 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Noonan Syndrome 10 |
|
Short neck, Pectus excavatum, Cryptorchidism, Pectus carinatum, High palate, Scoliosis, Cubitus v... |
OMIM:616564 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Hamarto... |
OMIM:277170 |
Osteogenesis Imperfecta, Type X |
|
Multiple rib fractures, Thoracic scoliosis, Inguinal hernia, Short femur, Bowing of the long bone... |
OMIM:613848 |
Kabuki Syndrome |
|
Hypoplasia of penis, Hypospadias, Precocious puberty, Cryptorchidism, Vertebral clefting, Hemiver... |
ORPHA:2322 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Type I diabetes mellitus, Cryptorchidism |
OMIM:620365 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cryptorchidism, Optic atrophy |
OMIM:300578 |
Neurofaciodigitorenal Syndrome |
|
Abnormal distal phalanx morphology of finger, Pectus excavatum, Cryptorchidism, Abnormality of th... |
ORPHA:2673 |
Pudendal Neuralgia |
|
Back pain, Dyspareunia, Anal canal adenocarcinoma, Impotence, Scrotal pain |
ORPHA:60039 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Submucous cleft hard palate, Optic atrophy, Cleft palate, Me... |
ORPHA:899 |
Fanconi Anemia, Complementation Group C |
|
Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Short thumb, Anterio... |
OMIM:227645 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Toriello-Carey Syndrome |
|
Aganglionic megacolon, Short neck, Micrognathia, Cryptorchidism, Cleft palate, Anteriorly placed ... |
ORPHA:3338 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Ambiguous genitalia, Aganglionic megacolon, Cryptorchidism, Male pseudoherma... |
ORPHA:847 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Podagra, Hip dislocation |
OMIM:300322 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Tracheoesophageal fistula, Abnormal form of the vertebral bodies, Intest... |
ORPHA:93941 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Annular pancreas, Abnormality of the uterus, Aplasia/Hypoplasia of the pancreas |
ORPHA:2470 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Supernumerary nipple, Short neck, Pectus excavatum, Cryptorchidism, Kyphosis, Su... |
OMIM:619194 |
Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... |
OMIM:305620 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Ulnar deviation of the 3rd finger, Pancreatic fibrosis, Diabetes mellitus, Proximal placement of ... |
OMIM:616263 |
C Syndrome |
|
Omphalocele, Joint dislocation, Sacral dimple, Multicystic kidney dysplasia, Toe syndactyly, Micr... |
ORPHA:1308 |
Fraser Syndrome |
|
Omphalocele, Finger syndactyly, Hypoplasia of penis, Small scrotum, Hypospadias, Multicystic kidn... |
ORPHA:2052 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormal intervertebral disk morphology, Micromelia, Short neck, Micrognathia, Abnormal finger mo... |
ORPHA:2636 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Rhizomeli... |
OMIM:616229 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Lumbar hyperlordosis, Broad hallux, Sandal gap, Hyperlordosis, Cryptorchidism, Narrow palate, Hip... |
OMIM:616078 |
Coronary Arterial Fistula |
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Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Kallmann Syndrome-Heart Disease Syndrome |
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Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Midgut malrotation, Cleft palate, Delaye... |
ORPHA:2326 |
Mullerian Aplasia And Hyperandrogenism |
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Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... |
OMIM:158330 |
Mend Syndrome |
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Microretrognathia, Sacral dimple, Broad hallux, Overlapping toe, Micrognathia, Cryptorchidism, Ky... |
OMIM:300960 |
Dextrocardia |
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Congenital hip dislocation, Intestinal malrotation, Abnormal reproductive system morphology, Abno... |
ORPHA:1666 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
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Inguinal hernia, Cryptorchidism, Pyloric stenosis, Elbow flexion contracture, Hip dislocation |
OMIM:614438 |
7Q11.23 Microduplication Syndrome |
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Sacral dimple, Inguinal hernia, Hypospadias, Craniosynostosis, Short neck, Pectus excavatum, Cryp... |
ORPHA:96121 |
16P13.11 Microdeletion Syndrome |
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Camptodactyly of finger, Pectus excavatum, Cryptorchidism, Cleft palate, Metatarsus valgus |
ORPHA:261236 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
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Cryptorchidism, Micropenis |
OMIM:619847 |
De Barsy Syndrome |
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Inguinal hernia, Congenital hip dislocation, Kyphoscoliosis, Delayed closure of the anterior font... |
ORPHA:2962 |
Fetal Akinesia Deformation Sequence 1 |
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Hip contracture, Rocker bottom foot, Camptodactyly of finger, Short neck, Micrognathia, Cryptorch... |
OMIM:208150 |
Bosma Arhinia Microphthalmia Syndrome |
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Inguinal hernia, Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Cryptorc... |
OMIM:603457 |
Chromosome 16P13.3 Duplication Syndrome |
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Sacral dimple, Inguinal hernia, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Shor... |
OMIM:613458 |
Webb-Dattani Syndrome |
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Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:615926 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Hypoplasia of penis, Inguinal hernia, External genital hypoplasia, Cryptorchidism, Submucous clef... |
ORPHA:2250 |
Mucopolysaccharidosis, Type X |
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Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspon... |
OMIM:619698 |
Wolf-Hirschhorn Syndrome |
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Micrognathia, Abnormal form of the vertebral bodies, Vertebral fusion, Hypospadias, Pseudoepiphys... |
OMIM:194190 |
Cerebellar-Facial-Dental Syndrome |
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Inguinal hernia, Tapered finger, Short neck, Cryptorchidism, Micrognathia, Slender long bone, Sco... |
ORPHA:444072 |
Neurofibromatosis-Noonan Syndrome |
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Pectus excavatum of inferior sternum, Short neck, Pectus excavatum, Cryptorchidism, Scoliosis, Cu... |
OMIM:601321 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Male infertility, Intestinal obstruction, Primary testicular failure, Intestinal perforation, Oli... |
ORPHA:85450 |
Myhre Syndrome |
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Vertebral fusion, Overlapping toe, Short neck, Cryptorchidism, Short toe, 2-3 toe syndactyly, Cle... |
OMIM:139210 |
Hypophosphatasia |
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Bowing of the long bones, Craniosynostosis, Abnormal rib morphology, Narrow chest, Abnormal metap... |
ORPHA:436 |
Sotos Syndrome |
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Cryptorchidism, High, narrow palate, Long metacarpals, Narrow palate, Genu valgum, Long phalanx o... |
OMIM:117550 |
Alkuraya-Kucinskas Syndrome |
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Small scrotum, Overlapping toe, Micrognathia, Micropenis, Cutaneous syndactyly, High palate, Camp... |
OMIM:617822 |
Cole-Carpenter Syndrome |
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Crumpled long bones, Bowing of the long bones, Micrognathia, Kyphosis, Abnormal rib morphology, A... |
ORPHA:2050 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Prominent metopic ridge, Craniosynostosis, Cryptorchidism, Cleft palate, Furrowed tongue, Macrogl... |
ORPHA:453499 |
Lethal Congenital Contracture Syndrome 10 |
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Omphalocele, Thoracic scoliosis, Overlapping fingers, Short neck, Micrognathia, Narrow palate, Fe... |
OMIM:617022 |
Combined Oxidative Phosphorylation Deficiency 41 |
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Cardiomegaly |
OMIM:618838 |
Chops Syndrome |
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Cryptorchidism, High, narrow palate, Optic atrophy, Cervical C2/C3 vertebral fusion, Brachydactyly |
OMIM:616368 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
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Inguinal hernia, Diabetes mellitus, Cryptorchidism, Micropenis, Limb undergrowth, Clinodactyly, H... |
OMIM:616541 |
Orofaciodigital Syndrome Type 6 |
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Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Micrognathia, Bilateral cryptorchidism, C... |
ORPHA:2754 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
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Hypoplasia of penis, Inguinal hernia, Protruding tongue, Cryptorchidism, Macroglossia, Abnormal t... |
ORPHA:96147 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Microretrognathia, Optic disc pallor, 2-5 finger syndactyly, Prominent metopic ridge, Hypospadias... |
ORPHA:468631 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Ovoid vertebral bodies, ... |
ORPHA:85167 |
Trisomy 8P |
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Short fourth metatarsal, Short neck, Aplasia/Hypoplasia of the gallbladder, Clinodactyly of the 5... |
ORPHA:264450 |
Rothmund-Thomson Syndrome, Type 2 |
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Congenital hip dislocation, Kyphoscoliosis, Micrognathia, Cryptorchidism, Short thumb, Small hand... |
OMIM:268400 |
Meier-Gorlin Syndrome 6 |
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Microretrognathia, Sandal gap, Decreased response to growth hormone stimulation test, Cryptorchid... |
OMIM:616835 |
Fanconi Anemia, Complementation Group E |
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Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Short thumb, Complet... |
OMIM:600901 |
Alg12-Cdg |
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Decreased serum insulin-like growth factor 1, Hypospadias, Intestinal malrotation, Sandal gap, Pr... |
ORPHA:79324 |
Dilated Cardiomyopathy With Ataxia |
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Hypoplasia of penis, Bilateral cryptorchidism, Optic atrophy, Perineal hypospadias, Hypothyroidism |
ORPHA:66634 |
Isolated Right Ventricular Hypoplasia |
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Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Doors Syndrome |
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11 pairs of ribs, Adrenal hyperplasia, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagitt... |
ORPHA:79500 |
Timothy Syndrome |
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Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Aorta Coarctation |
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Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Acrocallosal Syndrome |
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High palate, Clinodactyly of the 5th finger, Micropenis, Bifid uvula, Microretrognathia, Finger s... |
OMIM:200990 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, A... |
ORPHA:1120 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
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Cryptorchidism, Unilateral cleft palate, Submucous cleft hard palate, Hypospadias |
OMIM:619103 |
Opitz Gbbb Syndrome |
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Inguinal hernia, Hypospadias, Rectourethral fistula, Cryptorchidism, Cleft palate, High palate, M... |
OMIM:300000 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
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Small scrotum, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Optic atrophy, Hyp... |
OMIM:614231 |
Thrombocytopenia-Absent Radius Syndrome |
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Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly o... |
OMIM:274000 |
Diamond-Blackfan Anemia 1 |
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11 pairs of ribs, Short neck, Absent thumb, Short thumb, Hypoplastic ilia, Partial duplication of... |
OMIM:105650 |
Cardiofaciocutaneous Syndrome |
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Abnormal morphology of ulna, Short neck, Pectus excavatum, Cryptorchidism, Submucous cleft hard p... |
ORPHA:1340 |
Deeah Syndrome |
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Cervical hemivertebrae, Decreased response to growth hormone stimulation test, Anterior pituitary... |
OMIM:619004 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Hypospadias, Overlapping toe, Craniosynostosis, Tapered finger, Pectus excavatum, Cryptorchidism,... |
OMIM:309590 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Inguinal hernia, Prominent metopic ridge, Broad hallux, Optic nerve hypoplasia, Postaxial polydac... |
ORPHA:457284 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Gabriele-De Vries Syndrome |
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Hallux valgus, Sandal gap, Micrognathia, Cryptorchidism, Long fingers, High palate, Patellar disl... |
OMIM:617557 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Syndactyly, Lumbar hyperlordosis, Hypospadias, Micrognathia, Cryptorchidism, Optic atrophy, Renal... |
OMIM:616975 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Hypospadias, Supernumerary nipple, Cryptorchidism, Pyloric stenosis, Renal c... |
ORPHA:261494 |
Bainbridge-Ropers Syndrome |
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Arachnodactyly, Intestinal malrotation, Supernumerary nipple, Micrognathia, Precocious puberty, C... |
OMIM:615485 |
Holzgreve Syndrome |
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Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Abn... |
ORPHA:2167 |
Waardenburg Syndrome, Type 4C |
|
Lacrimal gland hypoplasia, Cryptorchidism, Hypogonadism |
OMIM:613266 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Inguinal hernia, Short metacarpal, Delayed closure of th... |
OMIM:303600 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... |
OMIM:211350 |
Radio-Renal Syndrome |
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Multicystic kidney dysplasia, Micromelia, Short neck, Micrognathia, High, narrow palate, Hypoplas... |
ORPHA:3015 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Overlapping toe, Intestinal malrotation, Hiatus hernia, Precocious puberty, Cryptorchidism, Scoli... |
OMIM:616682 |
Cockayne Syndrome Type 1 |
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Absent brainstem auditory responses, Cryptorchidism, Optic atrophy, Scoliosis, Male hypogonadism,... |
ORPHA:90321 |
Meckel Syndrome 14 |
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Microretrognathia, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Short neck, Micro... |
OMIM:619879 |
Meacham Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Abnormal fallopian tube morphology, Ambigu... |
ORPHA:3097 |
Gaucher Disease, Type Iiic |
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Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Meckel Syndrome, Type 1 |
|
External genital hypoplasia, Adrenal hypoplasia, Short neck, Micrognathia, Ambiguous genitalia, f... |
OMIM:249000 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... |
OMIM:202010 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vert... |
ORPHA:3109 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
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Omphalocele, Multicystic kidney dysplasia, Intestinal malrotation, Cryptorchidism, Microcolon |
ORPHA:2241 |
Congenital Myopathy 13 |
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Kyphoscoliosis, Micrognathia, Cryptorchidism, Cleft palate, High palate, Scoliosis |
OMIM:255995 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Micrognathia, Cryptorchidism, Tracheoesophageal fistula, Clef... |
ORPHA:861 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
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Persistent open anterior fontanelle, Hypospadias, Micrognathia, Metatarsus adductus, Cryptorchidi... |
OMIM:614866 |
Chromosome 13Q14 Deletion Syndrome |
|
Inguinal hernia, Overlapping toe, Supernumerary nipple, Micrognathia, Cryptorchidism, Hip disloca... |
OMIM:613884 |
Bloom Syndrome |
|
Syndactyly, Decreased fertility in females, Cryptorchidism, Azoospermia, Hand polydactyly, Type I... |
OMIM:210900 |
Pallister-Killian Syndrome |
|
Small scrotum, Congenital hip dislocation, Short neck, Micrognathia, Renal cyst, Anteriorly place... |
OMIM:601803 |
Charge Syndrome |
|
External genital hypoplasia, Decreased response to growth hormone stimulation test, Micrognathia,... |
OMIM:214800 |
Barber-Say Syndrome |
|
Breast aplasia, Hypoplastic nipples, Shawl scrotum |
ORPHA:1231 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Optic nerve hypoplasia, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydacty... |
OMIM:603671 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Small scrotum, Hypospadias, Kyphoscoliosis, Short neck, Protruding tongue, Cryptorchidism, Clinod... |
OMIM:309580 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
Meckel Syndrome |
|
Multicystic kidney dysplasia, True hermaphroditism, Pancreatic fibrosis, Aplasia/Hypoplasia of th... |
ORPHA:564 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cryptorchidism |
OMIM:620327 |
Distal Deletion 12Q |
|
Short neck, Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the middle phalanx of the 3r... |
ORPHA:96149 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Microretrognathia, Cryptorchidism, Inguinal hernia, Hypospadias |
OMIM:614052 |
Rothmund-Thomson Syndrome Type 1 |
|
Short metacarpal, Premature ovarian insufficiency, Metaphyseal sclerosis, Cryptorchidism, Hypothy... |
ORPHA:221008 |
Monosomy 9Q22.3 |
|
Ovarian fibroma, Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Abnormality of ... |
ORPHA:77301 |
Kabuki Syndrome 1 |
|
Joint dislocation, Anal stenosis, Congenital hip dislocation, Intestinal malrotation, Premature t... |
OMIM:147920 |
Dubowitz Syndrome |
|
Syndactyly, Sacral dimple, Inguinal hernia, Hypospadias, Micrognathia, Cryptorchidism, Velopharyn... |
OMIM:223370 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Absent gallbladder, Hyperextensibility of the finger joints, Hypospadias, Rocker bottom... |
ORPHA:163979 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Avascular necrosis of the capital femoral epiphysis, Cryptorchidism, Oral leukoplakia |
OMIM:613990 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Short neck, Micromelia, Micrognathia, High pala... |
ORPHA:199 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:363705 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Hypospadias, Supernumerary nipple, Tapered finger, Cryptorchidism, Short thumb, Chordee, Clinodac... |
ORPHA:477993 |
Distal 22Q11.2 Microduplication Syndrome |
|
Sacral dimple, Toe syndactyly, Camptodactyly of finger, Tapered finger, Micrognathia, Cryptorchid... |
ORPHA:261337 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Abnormal thumb morphology, Cryptorchidism, Inguinal hernia, Arachnodactyly |
ORPHA:2719 |
De Sanctis-Cacchione Syndrome |
|
Bilateral cryptorchidism, Optic atrophy, Bilateral coxa valga, Gonadal hypoplasia |
OMIM:278800 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... |
ORPHA:99228 |
Monosomy X |
|
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... |
ORPHA:99226 |
Turner Syndrome |
|
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... |
ORPHA:881 |
Diets-Jongmans Syndrome |
|
Inguinal hernia, Hypospadias, Cryptorchidism, Hip dysplasia, Duodenal atresia |
OMIM:618846 |
Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
Nicolaides-Baraitser Syndrome |
|
Long toe, Hallux valgus, Inguinal hernia, Short metacarpal, Sandal gap, Enlarged joints, Broad 2n... |
OMIM:601358 |
Wrinkly Skin Syndrome |
|
Microretrognathia, Scapular winging, Inguinal hernia, Congenital hip dislocation, Delayed closure... |
OMIM:278250 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Microretrognathia, Sacral dimple, Inguinal hernia, Hypospadias, Toe syndactyly, Tapered finger, C... |
ORPHA:459070 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Cleft hard palate, Calcaneovalgus deformity, Pectus carinatum, Webbed penis, Micro... |
ORPHA:261537 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Esophageal atresia, ... |
OMIM:227646 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Inguinal hernia, Kyphoscoliosis, Bilateral cryptorchidism, Hip dislocation, Hip dysplasia, Campto... |
OMIM:617403 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Abnormal rib morphology, Cleft palate,... |
ORPHA:83 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Inguinal hernia, Short neck, Cryptorchidism, Abnormal sternum morphology, High palate, Cubitus va... |
OMIM:607721 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Prominent metopic ridge, Congenital hip dislocation, Micrognathia, Cryptorchidism, Long fingers, ... |
OMIM:619512 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Abnormality of the elbow, Abno... |
ORPHA:93473 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Short neck, Pectus excavatum, Cryptorchidism, Finger joint hypermobility, Cubitus valgus |
OMIM:613563 |
Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Decreased serum insulin-like growth factor 1, Hypospadias, Microgna... |
ORPHA:1596 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
Noonan Syndrome 3 |
|
Sagittal craniosynostosis, Pectus excavatum, Cryptorchidism, Pectus carinatum, Shield chest, High... |
OMIM:609942 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
Cockayne Syndrome A |
|
Hip contracture, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Crypto... |
OMIM:216400 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Septo-optic dysplasia, Short fifth metatarsal, Hypospadias, Anterior pituitary hypoplasia, Short ... |
OMIM:619841 |
Coffin-Siris Syndrome 1 |
|
Prominent interphalangeal joints, High palate, Prominent fingertip pads, Clinodactyly of the 5th ... |
OMIM:135900 |
Hartsfield Syndrome |
|
Syndactyly, Hypospadias, Craniosynostosis, Cryptorchidism, Gonadotropin deficiency, Cleft palate,... |
OMIM:615465 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
X-Linked Intellectual Disability, Armfield Type |
|
Inguinal hernia, Micrognathia, Cryptorchidism, Abnormality of the elbow, Small hand, Cleft palate... |
ORPHA:85276 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Hypoplastic sacrum, Hypogonadotropic hypogonadism, Absence of Stensen duct, Decrea... |
OMIM:604292 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Optic nerve hypoplasia, Craniosynostosis, Short neck, Pectus excavatum, Cryptorchidism, Pectus ca... |
OMIM:617506 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Inguinal hernia, Short metacarpal, Radial bowing, Femoral retroversion, Kyph... |
OMIM:610915 |
Cohen-Gibson Syndrome |
|
Coxa valga, Long fingers, Cryptorchidism, Flared metaphysis, Scoliosis, Hypoplastic iliac wing, B... |
OMIM:617561 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Micrognathia, Cryptorchidism, Abnormal rib morphology, Azoospermia, Hyperald... |
ORPHA:534 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Hypospadias, Aganglionic megacolon, Supernumerary nipple, Pectus excavatum, Crypto... |
OMIM:235730 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Cleft hard palate, Calcaneovalgus deformity, Pectus carinatum, Webbed penis, Micro... |
ORPHA:2152 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Broad hallux, Deviation of the hallux, Hamartoma of tongue, Short neck, Bilate... |
ORPHA:434179 |
Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Micrognathia, Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601186 |
Faundes-Banka Syndrome |
|
Premature thelarche, Micrognathia, Cryptorchidism, Cleft palate, Lumbar hemivertebrae, Delayed pu... |
OMIM:619376 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint dislocation, Decreased response to growth hormone stimulation test, Calcaneovalgus deformit... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Joint dislocation, Decreased response to growth hormone stimulation test, Calcaneovalgus deformit... |
ORPHA:363958 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Inguinal hernia, Perianal abscess, Cryptorchidism, Cleft palate, Pectus carinatum, High palate, H... |
OMIM:612541 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Prominent metopic ridge, Intestinal pseudo-obstruction, Optic n... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Prominent metopic ridge, Intestinal pseudo-obstruction, Optic n... |
ORPHA:352665 |
Rothmund-Thomson Syndrome Type 2 |
|
Joint dislocation, Short metacarpal, Aplasia/hypoplasia involving bones of the upper limbs, Metap... |
ORPHA:221016 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:201475 |
Cardiospondylocarpofacial Syndrome |
|
Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Fused cervical vertebrae, Pseudoepiphyses, ... |
OMIM:157800 |
Holoprosencephaly |
|
Omphalocele, Hypoplasia of penis, Median cleft lip and palate, Brachydactyly, Diabetes insipidus,... |
ORPHA:2162 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Renal Hypoplasia, Bilateral |
|
Cryptorchidism, Renal cyst |
ORPHA:97362 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Abnormal preputium morphology, Xerostomia, Abnormal r... |
ORPHA:2907 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
Occipital Horn Syndrome |
|
Short humerus, Orthostatic hypotension, Persistent open anterior fontanelle, Pelvic bone exostose... |
OMIM:304150 |
Trichothiodystrophy |
|
Joint dislocation, Craniosynostosis, Hypoplasia of mandible relative to maxilla, Cryptorchidism, ... |
ORPHA:33364 |
Bone Marrow Failure Syndrome 3 |
|
Metaphyseal dysplasia, Congenital hip dislocation, Micrognathia, Pancreatic steatosis, Cryptorchi... |
OMIM:617052 |
Microphthalmia, Syndromic 1 |
|
High, narrow palate, Rectal prolapse, High palate, Narrow chest, Prominent fingertip pads, Syndac... |
OMIM:309800 |
Vater/Vacterl Association |
|
Syndactyly, Hypospadias, Absent radius, Esophageal atresia, Short thumb, Hypoplasia of the radius... |
OMIM:192350 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... |
OMIM:146255 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Barber-Say Syndrome |
|
Absent nipple, Micrognathia, Cryptorchidism, Hypoplastic labia minora, Velopharyngeal insufficien... |
OMIM:209885 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint dislocation, Microretrognathia, Arachnodactyly, Intestinal malrotation, Hiatus hernia, Pect... |
OMIM:601776 |
Coffin-Siris Syndrome 12 |
|
Hypospadias, Facial palsy, Micrognathia, Pectus excavatum, Cryptorchidism, Velopharyngeal insuffi... |
OMIM:619325 |
Aspergillosis |
|
Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology, Abno... |
ORPHA:1163 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Neonatal insulin-dependent diabetes mellitus, Micrognathia, Precocious puberty, Cryptorchidism, L... |
ORPHA:96191 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Short neck, Absent thumb, Esophageal atresia, Absent radius, Micrognathia, Tr... |
OMIM:614083 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cryptorchidism, High palate, Hypospadias, Gout |
OMIM:300661 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Small scrotum, Female hypogonadism, Toe syndactyly, Adrenal... |
OMIM:607932 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic nerve hypoplasia, Micrognathia, Cryptorchidism, Optic atrophy, Cleft palate, Hypoplastic ma... |
OMIM:236670 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Cleft hard palate, Calcaneovalgus deformity, Pectus carinatum, Webbed penis, Micro... |
ORPHA:261552 |
Coffin-Siris Syndrome |
|
Hypospadias, Cryptorchidism, Short 5th finger, Papillary thyroid carcinoma, Scoliosis, Clinodactyly |
ORPHA:1465 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Anteriorly placed anus, Cryptorchidism, Rectoperineal fistula, Metopic synostosis |
OMIM:618748 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Osteoporosis, Cardiomegaly |
ORPHA:1517 |
Peters Plus Syndrome |
|
Micromelia, Short neck, Micrognathia, Clitoral hypoplasia, Clinodactyly of the 5th finger, Spina ... |
ORPHA:709 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Aplasia/Hypoplasia of the thumb, Hypospadias, Aplasia/Hypopl... |
OMIM:219000 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Bilobate gallbladder, Proximal placement of thumb, Short neck, Limited ... |
OMIM:261540 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Pterygium, Rocker bottom foot, Micromelia, Short neck, Bifid u... |
OMIM:256520 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Inguinal hernia, Cryptorchidism, Velopharyngeal insufficiency, Submucous clef... |
OMIM:192430 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Chronic gastritis, Scapular winging, Inguinal hernia, Syndactyly, Thoracolumbar scoliosis, Short ... |
OMIM:150230 |
Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism |
OMIM:613001 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Overgrowth of external genitalia, Prominent metopic ridge, Adrenocortical cytomegaly... |
OMIM:130650 |
X-Linked Intellectual Disability, Nascimento Type |
|
Overlapping toe, Hypospadias, Lower extremity joint dislocation, Cryptorchidism, Clubbing of toes... |
ORPHA:163956 |
Roberts-Sc Phocomelia Syndrome |
|
Short neck, Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wri... |
OMIM:268300 |
Bloom Syndrome |
|
Male infertility, Premature ovarian insufficiency, Diabetes mellitus, Micrognathia, Esophageal ne... |
ORPHA:125 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Short metatar... |
OMIM:216340 |
22Q11.2 Deletion Syndrome |
|
Short neck, Micrognathia, Hypoplasia of the thymus, Abnormality of the uterus, Hypothyroidism, Hy... |
ORPHA:567 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Scoliosis, Spina bifida occulta, Anal atresia |
OMIM:617466 |
Wrinkly Skin Syndrome |
|
Inguinal hernia, Congenital hip dislocation, Kyphoscoliosis, Delayed closure of the anterior font... |
ORPHA:2834 |
Osteogenesis Imperfecta |
|
Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Osteoarthritis, Abnormal ... |
ORPHA:666 |
Fraser Syndrome 3 |
|
Hypoplasia of penis, Small scrotum, Micrognathia, Short toe, Cutaneous syndactyly |
OMIM:617667 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
Lacrimoauriculodentodigital Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... |
ORPHA:2363 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Back pain, Hypospadias, Kyphosis, High, narrow palate, Short uvula, Abnormal curva... |
OMIM:619475 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Micrognathia, Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Pro... |
OMIM:618183 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Helsmoortel-Van Der Aa Syndrome |
|
Sandal gap, Decreased response to growth hormone stimulation test, Facial palsy, Hyperlordosis, P... |
OMIM:615873 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Cockayne Syndrome B |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Cryptorchidism, Kyphosi... |
OMIM:133540 |
Fontaine Progeroid Syndrome |
|
Syndactyly, Small scrotum, Absent nipple, Craniosynostosis, Protruding tongue, Micrognathia, Cryp... |
OMIM:612289 |
Perlman Syndrome |
|
Distal ileal atresia, Micrognathia, Cryptorchidism, Pancreatic islet-cell hyperplasia, Volvulus |
OMIM:267000 |
Ctcf-Related Neurodevelopmental Disorder |
|
Broad hallux phalanx, Sacral dimple, Inguinal hernia, Sandal gap, Craniosynostosis, Phimosis, Cry... |
ORPHA:363611 |
Holoprosencephaly 9 |
|
Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth hormone stimu... |
OMIM:610829 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Inguinal hernia, Toe syndactyly, Hypogonadotropic hypogonadism, Absence of Stensen duct, Decrease... |
OMIM:129900 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Phimosis, Esophageal stricture, Abnormal rib morpholo... |
ORPHA:2908 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Broad toe, Hypospadias, Tapered finger, Cryptorchidism, Short thumb, Hydrocele testis, Short foot... |
OMIM:619522 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Kyphoscoliosis, Cryptorchidism, Kyphosis, High, narrow palate, Pineal cyst, Scolio... |
OMIM:300967 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Limb-Mammary Syndrome |
|
Syndactyly, Absent nipple, Toe syndactyly, Cleft hard palate, 3-4 finger cutaneous syndactyly, Pr... |
ORPHA:69085 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Cryptorchidism |
OMIM:613834 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Inguinal hernia, Multicystic kidney dysplasia, Aganglionic megacolon, Hypospadias, C... |
OMIM:308205 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Thyroid hypoplasia, Camptodactyly of finger, Micrognathia, Thyroid agenesis, ... |
ORPHA:3047 |
Loeys-Dietz Syndrome |
|
Joint dislocation, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Micrognathia, Pectu... |
ORPHA:60030 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Supernumerary nipple, Bifid uterus, Abnormal reproductive system morphology, Craniosy... |
ORPHA:1521 |
Adnp Syndrome |
|
Inguinal hernia, Broad hallux, Sandal gap, Abnormal toe morphology, Cryptorchidism, Abnormal fing... |
ORPHA:404448 |
Neurofibromatosis Type 1 |
|
Precocious puberty, Cryptorchidism, Kyphosis, Abnormality of the endocrine system, Genu valgum, S... |
ORPHA:636 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Wrist swelling, Cryptorchidism, Kyphosis, Hip dislocation, Genu valgum, ... |
OMIM:309000 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Cryptorchidism, Metopic synostosis |
OMIM:620024 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Menke-Hennekam Syndrome 1 |
|
Inguinal hernia, Broad hallux, Overlapping toe, Sandal gap, Micrognathia, Cryptorchidism, Cleft p... |
OMIM:618332 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Overlapping toe, Kyphoscoliosis, Bilateral cryptorchidism, Pyloric stenosis, Knee flexion contrac... |
OMIM:617402 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Primrose Syndrome |
|
Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Bilateral cryptorchidism, Cry... |
OMIM:259050 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Short humerus, Short femur, Hypospadias, Delayed closure of the anterior fontanelle, Sh... |
OMIM:264090 |
Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Decreased circulating cortisol level, Intestinal malrotation, Short ... |
OMIM:620305 |
Ogden Syndrome |
|
Congenital hip dislocation, Maternal diabetes, Short neck, Micrognathia, High palate, Clinodactyl... |
OMIM:300855 |
Xeroderma Pigmentosum |
|
Cryptorchidism, Optic atrophy, Hypogonadism, Pterygium, Decreased testicular size |
ORPHA:910 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Abnormal bone ossification, Cardiomegaly |
ORPHA:2463 |
Microphthalmia, Syndromic 2 |
|
Hypospadias, Broad hallux, Septate vagina, Sandal gap, Cryptorchidism, 2-3 toe cutaneous syndacty... |
OMIM:300166 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Inguinal hernia, Abnormal pelvis bone morphology, Aganglionic megacolon, Camptodacty... |
ORPHA:2273 |
Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Absent outer dynein arms, Absent frontal sinuses |
OMIM:244400 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Inguinal hernia, Pectus excavatum, Cryptorchidism, Cystocele, Foot acroosteolysis, Cervical insuf... |
OMIM:130050 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy |
ORPHA:79330 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
Branchiooculofacial Syndrome |
|
Hypospadias, Facial palsy, Supernumerary nipple, Hyperlordosis, Short neck, Cryptorchidism, Kypho... |
OMIM:113620 |
Dyskeratosis Congenita, X-Linked |
|
Hypospadias, Phimosis, Cryptorchidism, Esophageal stricture, Optic atrophy, Oral leukoplakia, Pte... |
OMIM:305000 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Hallux valgus, Anterior pituitary hypoplasia, Supernumerary nipple, Kyphoscoliosis, Bilateral cry... |
ORPHA:466791 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Cryptorchidism, Micropenis, Tapered finger |
OMIM:617330 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Sandal gap, Decreased response to growth hormone stimulation test, Craniosynostosi... |
ORPHA:506358 |
Cystinosis, Nephropathic |
|
Male infertility, Diabetes mellitus, Metaphyseal widening, Genu valgum, Primary hypothyroidism, D... |
OMIM:219800 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Ambiguous genitalia, Cryptorchidism, Micropenis |
OMIM:617641 |
Degcags Syndrome |
|
Syndactyly, Sacral dimple, Toe syndactyly, Hypospadias, Jejunal atresia, Craniosynostosis, Hiatus... |
OMIM:619488 |
Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:603903 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Cryptorchidism, Adrenal insufficiency |
OMIM:307030 |
Williams Syndrome |
|
Hypoplasia of penis, Micrognathia, Rectal prolapse, Abnormal form of the vertebral bodies, Verteb... |
ORPHA:904 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly |
OMIM:608836 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Wide penis, Hypoplastic vertebral bodies, ... |
ORPHA:3455 |
Sotos Syndrome |
|
Sacrococcygeal teratoma, Inguinal hernia, Hip contracture, Hypospadias, Aganglionic megacolon, An... |
ORPHA:821 |
Penile Agenesis |
|
Maternal diabetes, Rectal fistula, Cryptorchidism, Tracheoesophageal fistula, Absent penis, Ambig... |
ORPHA:49 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:614921 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Micrognathia, Cryptorchidism, Cleft palate, Abnormal parotid gland morphology |
OMIM:154500 |
Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:608013 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hypospadias, Intestinal malrotation, Broad hallux, Avascular necrosis of the capital femoral epip... |
ORPHA:353281 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... |
OMIM:602782 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Decreased response to grow... |
OMIM:619503 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Inguinal hernia, Malabsorption, Avascular necrosis of the capital f... |
ORPHA:581 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Cleft soft palate, Bifid uterus, Cleft palate, Bifid uvula |
ORPHA:2736 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Inguinal hernia, Small scrotum, Intestinal malrotation, Pectus excavatum, Esophageal varix, Bile ... |
OMIM:613658 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormality of the cervica... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormality of the cervica... |
ORPHA:353277 |
Craniorachischisis |
|
Omphalocele, Bifid sternum, Anal atresia |
ORPHA:63260 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Abnor... |
ORPHA:438213 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:228308 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly |
OMIM:620306 |
Norrie Disease |
|
Diabetes mellitus, Cryptorchidism, Optic atrophy, Uterine rupture, Scoliosis, Erectile dysfunctio... |
ORPHA:649 |
Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Hepatomegaly, Craniosynostosis, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopat... |
OMIM:252500 |
Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:232300 |
Fucosidosis |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:230000 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Inguinal hernia, Prominent metopic ridge, Adrenocortical cytomegaly, Cryptorchidism,... |
ORPHA:116 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Small scrotum, Sandal gap, Optic nerve hypoplasia, Short neck, Long fingers, Cutaneous syndactyly... |
OMIM:620330 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Osteoporosis, Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
ORPHA:365 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Cystic Fibrosis |
|
Male infertility, Meconium ileus, Rectal prolapse, Ileus, Clubbing of fingers, Steatorrhea |
OMIM:219700 |
Abetalipoproteinemia |
|
Osteopenia, Hepatomegaly, Cardiomegaly |
ORPHA:14 |
Johanson-Blizzard Syndrome |
|
Colonic diverticula, Diabetes mellitus, Hypospadias, Urethrovaginal fistula, Septate vagina, Mala... |
OMIM:243800 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly |
OMIM:618278 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Multiple small medullary renal cysts, Abnormal rib morphology, Hemiverteb... |
OMIM:118450 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Vascular Ehlers-Danlos Syndrome |
|
Joint dislocation, Inguinal hernia, Congenital hip dislocation, Hypospadias, Pectus excavatum, Cr... |
ORPHA:286 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Craniosynostosis, Abnormal rib morphology, Narrow chest, Abnormal epiph... |
ORPHA:667 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Cardiomegaly |
ORPHA:97297 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Osteoporosis, O... |
OMIM:182250 |
Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:51 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... |
OMIM:619991 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Osteomalacia, Cardiomegaly, Pericardial effusion, Myocardial calcificati... |
ORPHA:51608 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:256040 |