Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... |
ORPHA:1646 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility |
OMIM:619689 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... |
ORPHA:98797 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... |
OMIM:619177 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... |
ORPHA:98798 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Oocyte Maturation Defect 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Oocyte Maturation Defect 12 |
|
Female infertility |
OMIM:619697 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
Oocyte Maturation Defect 10 |
|
Female infertility |
OMIM:619176 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... |
ORPHA:261529 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism |
ORPHA:3000 |
Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:108420 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In... |
ORPHA:399805 |
Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... |
ORPHA:52901 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia, Spermatocele |
OMIM:301060 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... |
ORPHA:399808 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Azoospermia, Male hypogonadism |
OMIM:241000 |
Spermatogenic Failure 15 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:616950 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... |
OMIM:614840 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... |
OMIM:617959 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Infertility, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased testicular ... |
OMIM:146110 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Premature Ovarian Failure 6 |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... |
OMIM:612310 |
Fanconi Anemia, Complementation Group S |
|
Thick upper lip vermilion, Failure to thrive, Dental malocclusion, Narrow palate, Ovarian neoplas... |
OMIM:617883 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Female infertility, Hypoplasia of the uterus, Oligomenorrhea, Elevated circulating fo... |
OMIM:617442 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Oligospermia, Azoospermia, Type II diabetes mellitus |
OMIM:615703 |
Kennedy Disease |
|
Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... |
OMIM:229070 |
Asherman Syndrome |
|
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... |
ORPHA:137686 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Male infertility, Absent vas deferens |
OMIM:277180 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... |
OMIM:614837 |
2Q24 Microdeletion Syndrome |
|
Bullet-shaped distal phalanx of the hallux, Failure to thrive, Cleft palate, Small for gestationa... |
ORPHA:1617 |
Spermatogenic Failure 28 |
|
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... |
OMIM:618086 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... |
OMIM:614324 |
46,Xx Testicular Disorder Of Sex Development |
|
Polycystic ovaries, Ambiguous genitalia, Decreased testicular size, Male hypogonadism |
ORPHA:393 |
Bardet-Biedl Syndrome 5 |
|
Macular dystrophy, External genital hypoplasia, Rod-cone dystrophy, Micropenis, Syndactyly, Brach... |
OMIM:615983 |
Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... |
OMIM:612885 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Amegakaryocytic thrombocytopenia, Radioulnar synostosis, Hip dysp... |
ORPHA:71289 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Rubinstein-Taybi Syndrome 2 |
|
High palate, Dental malocclusion, Narrow palate, Retrognathia, Micrognathia, Syndactyly, Carious ... |
OMIM:613684 |
Adrenal Hypoplasia, Congenital |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... |
OMIM:300200 |
Premature Ovarian Failure 20 |
|
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Female infertility... |
OMIM:619938 |
49,Xyyyy Syndrome |
|
Large carpal bones, Abnormality of the testis size, Decreased serum testosterone concentration, E... |
ORPHA:99330 |
Gombo Syndrome |
|
Brachydactyly, Clinodactyly, Delayed puberty, Microphthalmia, Radial deviation of finger |
OMIM:233270 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia, Abnormal thumb morphology, Neutropenia, Anemia, Thrombocytopenia, Leukemia, Abnor... |
OMIM:614082 |
Fanconi Anemia, Complementation Group A |
|
Neutropenia, Microphthalmia, Absent thumb, Small for gestational age, Hypergonadotropic hypogonad... |
OMIM:227650 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
48,Xxyy Syndrome |
|
Cleft palate, Hypergonadotropic hypogonadism, Delayed eruption of teeth, Radioulnar synostosis, C... |
ORPHA:10 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Macrodontia of permanent maxillary central incisor, Delayed eruption of teeth, Microcornea, Hypop... |
OMIM:257850 |
Spermatogenic Failure, X-Linked, 4 |
|
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... |
OMIM:301077 |
Androgen Insensitivity, Partial |
|
Infertility, Bifid scrotum, Micropenis, Male pseudohermaphroditism, Absent vas deferens, Hypogona... |
OMIM:312300 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Preaxial polydactyly, Hypogonadotropic hypogonadism, Hypospadias, Coloboma, Delay... |
ORPHA:141333 |
Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Clinodactyly of the 5th finger, Absent thumb, Retrognathia, Ulnar deviation o... |
OMIM:194350 |
Fanconi Anemia, Complementation Group O |
|
Chromosome breakage, Absent thumb, External genital hypoplasia, Hypoplasia of the radius, Small t... |
OMIM:613390 |
Functioning Gonadotropic Adenoma |
|
Impotence, Ovarian cyst, Central diabetes insipidus, Pituitary gonadotropic cell adenoma, Enlarge... |
ORPHA:91348 |
Alpha-Mannosidosis |
|
Dental malocclusion, Gingival overgrowth, Narrow palate, Type II diabetes mellitus, Corneal opaci... |
ORPHA:61 |
Bardet-Biedl Syndrome 11 |
|
Obesity, Retinopathy, Polydactyly, Hypogonadism |
OMIM:615988 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... |
ORPHA:754 |
Fanconi Anemia, Complementation Group E |
|
Neutropenia, Microphthalmia, Absent thumb, Small for gestational age, Hypergonadotropic hypogonad... |
OMIM:600901 |
Seckel Syndrome 1 |
|
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Single transverse ... |
OMIM:210600 |
Hypogonadism-Cataract Syndrome |
|
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... |
OMIM:240950 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
High palate, Narrow mouth, Retrognathia, Microcornea, Cataract, Microphthalmia, Hypogonadism |
ORPHA:2528 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Tooth malposition, Micropenis, Abnormality of dental morphology, Tapered fin... |
ORPHA:85274 |
Acrootoocular Syndrome |
|
Decreased palmar creases, Cutaneous syndactyly, Delayed eruption of teeth, Pseudopapilledema, San... |
ORPHA:2980 |
48,Xyyy Syndrome |
|
High palate, Dislocated radial head, Irregularly spaced teeth, Long philtrum, Radioulnar synostos... |
ORPHA:99329 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Cone-shaped epiphyses of the phalanges of the hand, Blue irides, Elevated circulating parathyroid... |
OMIM:101800 |
Bardet-Biedl Syndrome 12 |
|
Obesity, Polydactyly, Rod-cone dystrophy, Hypogonadism |
OMIM:615989 |
Bloom Syndrome |
|
Decreased circulating IgA level, Clinodactyly of the 5th finger, Decreased circulating IgG level,... |
OMIM:210900 |
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Infertility, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Abnormality of the urethr... |
ORPHA:752 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Failure to thrive, Decreased body weight, Short 5th finger, Short 3rd toe, Chromosomal breakage i... |
OMIM:619060 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Poikilocytosis, Hypogonadism, Azoos... |
OMIM:615234 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Short distal phalanx of finger, High palate, Short toe, Dental malocclusion, Narrow mouth, Open b... |
ORPHA:1327 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Band keratopathy, Fragile teeth, Hypergonadotropic hypogonadism, Cataract, Selective tooth agenes... |
ORPHA:2959 |
47,Xyy Syndrome |
|
Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varico... |
ORPHA:8 |
Mental Retardation, Buenos Aires Type |
|
High palate, Failure to thrive, Wide mouth, Clinodactyly of the 5th finger, Dental malocclusion, ... |
OMIM:249630 |
Fanconi Anemia, Complementation Group F |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Absent thumb, Hypoplasi... |
OMIM:603467 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
High, narrow palate, Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary ax... |
ORPHA:2183 |
Mcdonough Syndrome |
|
Dental malocclusion, Open bite, Cachexia, Short philtrum, Micrognathia, Bilateral single transver... |
ORPHA:2471 |
Fanconi Anemia, Complementation Group I |
|
Decreased body weight, Microphthalmia, Decreased response to growth hormone stimulation test, Abs... |
OMIM:609053 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
High palate, Failure to thrive, Anodontia, Dental malocclusion, Narrow palate, Supernumerary toot... |
OMIM:264475 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Dental malocclusion, 3-4 toe syndactyly, Persistence of primary teeth, Malar flattening, Ectopia ... |
OMIM:618727 |
Fanconi Anemia, Complementation Group C |
|
Neutropenia, Microphthalmia, Absent thumb, Small for gestational age, Hypergonadotropic hypogonad... |
OMIM:227645 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Microphthalmia, Everted lower lip vermilion, Micrognathia, C... |
ORPHA:1466 |
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Urogenital sinus anomaly, Abnormality of the endocrine system, Hypoplasia of penis, Ambiguous gen... |
ORPHA:753 |
Muenke Syndrome |
|
High palate, Dental malocclusion, Cone-shaped epiphyses of the phalanges of the hand, Malar flatt... |
OMIM:602849 |
Fanconi Anemia, Complementation Group D1 |
|
T-cell acute lymphoblastic leukemias, Failure to thrive, Bone marrow hypocellularity, Chromosomal... |
OMIM:605724 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Short distal phalanx of finger, Dental malocclusion, Abnormality of the dentition, Brachydactyly,... |
ORPHA:1858 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Small hand... |
OMIM:300845 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Dental malocclusion, Malar flattening, Rod-cone dystrophy, Patchy atrophy of the retinal pigment ... |
ORPHA:436245 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Dislocated radial head, Dental malocclusion, Flat capital femoral epiphysis, Joint c... |
OMIM:612350 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism |
OMIM:616030 |
Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Retinal degeneration, Rod-cone dystrophy, Abnormality of the dentiti... |
OMIM:615982 |
Pierpont Syndrome |
|
Prominent fingertip pads, Microcornea, Microphthalmia, Decreased body weight, Prominent median pa... |
OMIM:602342 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... |
OMIM:228300 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity, Short thumb, Mi... |
OMIM:609054 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Dental malocclusion, Nar... |
OMIM:608940 |
Mulibrey Nanism |
|
Dental malocclusion, Hypodontia, Thickened cortex of long bones, Pigmentary retinopathy, Astigmat... |
OMIM:253250 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Hypothyroidism, Infertility, Female external genitalia in individual with 46,XY karyotype, Male p... |
OMIM:264300 |
48,Xxxy Syndrome |
|
Cleft palate, Down-sloping shoulders, Delayed eruption of teeth, Radioulnar synostosis, Carious t... |
ORPHA:96263 |
Bardet-Biedl Syndrome 10 |
|
Rod-cone dystrophy, Polydactyly, Retinal dystrophy, Hypogonadism, Obesity |
OMIM:615987 |
Pierpont Syndrome |
|
Short toe, Long upper lip, Prominent fingertip pads, Small for gestational age, Everted lower lip... |
ORPHA:487825 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Widely spaced teeth, Dental malocclusion, Malar flattening, Retinal dystrophy |
OMIM:616108 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligospermia |
OMIM:314300 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
High palate, Dental malocclusion, Long fingers, Tapered finger, Mandibular prognathia |
OMIM:618292 |
Ring Chromosome 21 Syndrome |
|
Amenorrhea, Infertility, Small hand, Syndactyly, Narrow palm, Decreased circulating antibody leve... |
ORPHA:1445 |
Oculofaciocardiodental Syndrome |
|
Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Microcornea, Radioulnar sy... |
ORPHA:2712 |
Auriculocondylar Syndrome 2 |
|
Dental malocclusion, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Micrognathi... |
OMIM:614669 |
Fanconi Anemia, Complementation Group D2 |
|
Absent thumb, Hypergonadotropic hypogonadism, Complete duplication of thumb phalanx, Microphthalm... |
OMIM:227646 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Impotence, Eunuchoid habitus, Cleft palate, Abnormality of the dentition, Primary amenorrhea, Sec... |
ORPHA:432 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... |
OMIM:614897 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... |
ORPHA:83451 |
Bardet-Biedl Syndrome 7 |
|
Narrow mouth, 2-3 toe syndactyly, Malar flattening, Postaxial polydactyly, Rod-cone dystrophy, Po... |
OMIM:615984 |
Partial Androgen Insensitivity Syndrome |
|
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... |
ORPHA:90797 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... |
OMIM:308700 |
Immunodeficiency 54 |
|
Adrenal insufficiency, Failure to thrive, Adrenocorticotropic hormone excess, Chromosome breakage... |
OMIM:609981 |
Amelogenesis Imperfecta |
|
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... |
ORPHA:88661 |
Mmep Syndrome |
|
Split foot, Oral cleft, Triphalangeal thumb, Median cleft lip, Microphthalmia, Mandibular prognat... |
ORPHA:3434 |
Xq27.3Q28 Duplication Syndrome |
|
Failure to thrive, Small hand, Thin vermilion border, Truncal obesity, Short foot, Decreased test... |
ORPHA:261483 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Short distal phalanx of finger, Dental malocclusion, Short distal phalanx of toe, Short 1st metac... |
OMIM:601957 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Micrognathia, Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Catarac... |
OMIM:616171 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... |
ORPHA:1916 |
Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma... |
ORPHA:477781 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... |
OMIM:204700 |
Cleft Palate, Isolated |
|
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28, Metacarpophalangeal joint hyperextensibility, Macroorchidi... |
OMIM:300624 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Short distal phalanx of finger, Wide mouth, Labial hypoplasia, Clinodactyly of the 5th finger, Ta... |
OMIM:619293 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
High palate, Slender finger, External genital hypoplasia, Cleft palate, Abnormality of the dentit... |
ORPHA:251028 |
Craniosynostosis 3 |
|
Single transverse palmar crease, Dental malocclusion, Hallux valgus, Brachydactyly |
OMIM:615314 |
Macrosomia With Microphthalmia, Lethal |
|
Large for gestational age, Median cleft palate, Microphthalmia |
OMIM:248110 |
Hemochromatosis, Type 2A |
|
Amenorrhea, Infertility, Splenomegaly, Hypogonadotropic hypogonadism, Azoospermia |
OMIM:602390 |
49,Xxxxy Syndrome |
|
Cleft palate, Down-sloping shoulders, Delayed eruption of teeth, Radioulnar synostosis, Carious t... |
ORPHA:96264 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Brachydactyly, Coloboma, Peters anomaly, Iris coloboma, Clinodactyly, Ocular anterior... |
OMIM:610023 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Wide mouth, Triangular mouth, Cleft palate, Abnormality of the dentition, Partial duplication of ... |
OMIM:616331 |
Otodental Syndrome |
|
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Retinal coloboma, Abnormal... |
ORPHA:2791 |
Short Syndrome |
|
Dental malocclusion, Hypodontia, Small for gestational age, Micrognathia, Megalocornea, Delayed e... |
OMIM:269880 |
Cri-Du-Chat Syndrome |
|
High palate, Microretrognathia, Short metacarpal, Small for gestational age, Hypospadias, Short p... |
OMIM:123450 |
Microphthalmia, Isolated 4 |
|
Coloboma, Microphthalmia, Absent testis, Postaxial polydactyly |
OMIM:613094 |
Warburg Micro Syndrome 1 |
|
Failure to thrive, Overlapping toe, Narrow mouth, External genital hypoplasia, Thin vermilion bor... |
OMIM:600118 |
Maxillonasal Dysplasia, Binder Type |
|
Short distal phalanx of finger, Dental malocclusion |
OMIM:155050 |
Maternal Uniparental Disomy Of Chromosome X |
|
Thin vermilion border, Primary gonadal insufficiency, Camptodactyly of finger, Ambiguous genitali... |
ORPHA:261519 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Talipes equinovarus, Cleft palate, Micrognathia, Rocker bottom foot, Microphthalmia |
OMIM:616570 |
Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Thrombocytopenia |
OMIM:209970 |
Momo Syndrome |
|
High palate, Thick upper lip vermilion, Dental malocclusion, Taurodontia, Short sternum, Femoral ... |
ORPHA:2563 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, External genital hypoplasia, Rod-cone dystrophy, Retinal coloboma, Cataract, Hypo... |
ORPHA:363741 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Dental malocclusion, Brachydactyly, High, narrow palate |
OMIM:619692 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Wide mouth, Dental malocclusion, Hypoplasia of penis, Malar flattening, Bifid scrotum, Everted lo... |
ORPHA:85321 |
Pituitary Dermoid And Epidermoid Cysts |
|
Amenorrhea, Enlarged pituitary gland, Panhypopituitarism, Oligomenorrhea, Oligospermia, Anterior ... |
ORPHA:91351 |
Oligodontia |
|
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
8P11.2 Deletion Syndrome |
|
High palate, Talipes equinovarus, Hypoplasia of penis, Spherocytosis, Splenomegaly, Hypogonadotro... |
ORPHA:251066 |
Mcdonough Syndrome |
|
Dental malocclusion, Micrognathia, Short philtrum, Single transverse palmar crease, Furrowed tong... |
OMIM:248950 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Median cleft palate, Microcornea, Large for gestational age, Microphthalmia |
ORPHA:2432 |
Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
Intermediate Osteopetrosis |
|
Dental malocclusion, Osteosclerosis of the base of the skull, Abnormality of the dentition, Hepat... |
ORPHA:210110 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Takenouchi-Kosaki Syndrome |
|
Overlapping toe, Wide mouth, Dental malocclusion, Hypospadias, Short philtrum, Long philtrum, Tap... |
OMIM:616737 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract, Microphthalmia |
OMIM:156850 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Thick upper lip vermilion, Overlapping toe, Dental malocclusion, Velopharyngeal insufficiency, Mi... |
ORPHA:363444 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Failure to thrive, Metaphyseal dysplasia, Epiphyseal dysplasia, Malar flattening, Diaphyseal dysp... |
OMIM:614727 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Retinal dysplasia, Microphthalmia |
OMIM:615771 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Hamamy Syndrome |
|
High palate, Wide mouth, Down-sloping shoulders, Tapered finger, Hypoparathyroidism, Clinodactyly... |
OMIM:611174 |
Complete Androgen Insensitivity Syndrome |
|
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... |
ORPHA:99429 |
Pycnodysostosis |
|
High palate, Abnormality of the dentition, Carious teeth, Rhizomelia, Hypoplasia of the maxilla, ... |
ORPHA:763 |
Zimmermann-Laband Syndrome |
|
High palate, Wide mouth, Supernumerary tooth, Hypodontia, Abnormal external genitalia, Cleft pala... |
ORPHA:3473 |
Aromatase Deficiency |
|
Female infertility, Ambiguous genitalia, female, Type II diabetes mellitus, Hypergonadotropic hyp... |
ORPHA:91 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
Premature Ovarian Failure 12 |
|
Macular dystrophy, Primary amenorrhea, Microphthalmia |
OMIM:616947 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology |
OMIM:612529 |
Fanconi Anemia |
|
High palate, Abnormality of femur morphology, Absent testis, Decreased fertility in males, Cleft ... |
ORPHA:84 |
Moebius Syndrome |
|
High palate, Talipes equinovarus, Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Abno... |
OMIM:157900 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... |
OMIM:308750 |
Congenital Rubella Syndrome |
|
Corneal opacity, Abnormality of retinal pigmentation, Splenomegaly, Aplasia/Hypoplasia of the iri... |
ORPHA:290 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Chorioretinal dysplasia |
OMIM:616335 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Harrod Syndrome |
|
High palate, Failure to thrive, Dental malocclusion, Narrow mouth, Arachnodactyly, Hypospadias, A... |
ORPHA:2115 |
Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Absent thumb, Bilateral talipes equinovarus, Micropenis, Cleft palate, Micro... |
OMIM:614083 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Cataract, Hypogonadism, Obesity, Cryptorchi... |
OMIM:601794 |
Faciothoracogenital Syndrome |
|
Prominent scrotal raphe, Micrognathia, Glandular hypospadias, Long philtrum, Shawl scrotum, Micro... |
OMIM:227320 |
46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism |
ORPHA:242 |
Temtamy Syndrome |
|
Short toe, Clinodactyly of the 5th finger, Micrognathia, Brachydactyly, Genu varum, Iris coloboma... |
ORPHA:1777 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia, Microcornea, Coloboma |
OMIM:251505 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia |
OMIM:613724 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Adducted thumb, Developmental cataract, Decreased testicular size, Thromboc... |
OMIM:601815 |
Cohen Syndrome |
|
Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Short philtrum, Macrodontia, Narr... |
ORPHA:193 |
Microphthalmia, Syndromic 2 |
|
Contracture of the proximal interphalangeal joint of the 3rd toe, Radiculomegaly, Delayed eruptio... |
OMIM:300166 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Retrognath... |
ORPHA:280679 |
Frontonasal Dysplasia 1 |
|
Median cleft palate, Joint contracture of the hand, Brachydactyly, Camptodactyly, Postaxial hand ... |
OMIM:136760 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Camptodactyly of finger, Micrognathia, Microcornea, Cataract, Micr... |
ORPHA:48431 |
Nanophthalmos 4 |
|
Optic disc drusen, Microphthalmia |
OMIM:615972 |
Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami |
OMIM:141300 |
Trichorhinophalangeal Syndrome, Type I |
|
Dental malocclusion, Narrow palate, Flat capital femoral epiphysis, Cone-shaped epiphyses of the ... |
OMIM:190350 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Micrognathia, Short philtrum, Downturned corners of mouth, Ambiguous genitalia, Rhizomelia, Abnor... |
ORPHA:93267 |
Potocki-Lupski Syndrome |
|
High palate, Failure to thrive, Wide mouth, Dental malocclusion, Small for gestational age, Micro... |
OMIM:610883 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
ORPHA:859 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens |
OMIM:300985 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Dental malocclusion, Hallux valgus |
OMIM:615541 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Abnormality of the dentition, Retinal degeneration, Microphthalmia |
OMIM:251700 |
Sclerosteosis 1 |
|
Cortically dense long tubular bones, Dental malocclusion, Tooth malposition, Malar flattening, Pa... |
OMIM:269500 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... |
OMIM:235200 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Intellectual Disability And Myopathy Syndrome |
|
Dental malocclusion, Congenital hip dislocation, Limited elbow extension, Incisor macrodontia, Wi... |
OMIM:619719 |
Microphthalmia With Brain And Digit Anomalies |
|
High palate, Abnormality of the hypothalamus-pituitary axis, Anophthalmia, Microcornea, Retinal d... |
ORPHA:139471 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... |
ORPHA:90793 |
Fanconi Anemia, Complementation Group V |
|
Bone marrow hypocellularity, Neutropenia, Chromosomal breakage induced by crosslinking agents, An... |
OMIM:617243 |
Fanconi Anemia, Complementation Group B |
|
Absent thumb, Micropenis, Hypergonadotropic hypogonadism, Aplastic anemia, Bilateral radial aplas... |
OMIM:300514 |
Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cleft palate, Split foot, Microcornea, Oral cleft, Widely-spaced maxillary centr... |
OMIM:601349 |
Three M Syndrome 2 |
|
High palate, Dental malocclusion, Malar flattening, Small for gestational age, Short 5th finger, ... |
OMIM:612921 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... |
OMIM:611040 |
Fragile X Syndrome |
|
Mandibular prognathia, Sinusitis, Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Congenital Disorder Of Glycosylation, Type Iig |
|
High palate, Talipes equinovarus, Cleft palate, Small hand, Hypospadias, Micrognathia, Anemia, Ca... |
OMIM:611209 |
Frontometaphyseal Dysplasia 1 |
|
High palate, Cleft palate, Increased density of long bone diaphyses, Delayed eruption of teeth, G... |
OMIM:305620 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Rhizomelia, Thrombocytopenia |
OMIM:166990 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
Momo Syndrome |
|
High palate, Dental malocclusion, Taurodontia, Short sternum, Retinal coloboma, Long philtrum, De... |
OMIM:157980 |
Mccune-Albright Syndrome |
|
Abnormality of femur morphology, Abnormal endocrine physiology, Ovarian cyst, Increased circulati... |
ORPHA:562 |
Hallermann-Streiff Syndrome |
|
High palate, Optic disc coloboma, Cataract, Microphthalmia, Selective tooth agenesis, High, narro... |
OMIM:234100 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Lens subluxation, Retinal thinning, Rhizomelia, Abnormal epiphysis morphology, Bowing of the long... |
ORPHA:85167 |
Osteoporosis-Pseudoglioma Syndrome |
|
Abnormal femoral neck/head morphology, Exudative vitreoretinopathy, Microphthalmia, Corneal opaci... |
ORPHA:2788 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Microphthalmia, Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Macular atrophy, ... |
OMIM:212550 |
Beaulieu-Boycott-Innes Syndrome |
|
Dental malocclusion, Velopharyngeal insufficiency, Micrognathia, Endometriosis, Carious teeth, Pa... |
OMIM:613680 |
Generalized Glucocorticoid Resistance Syndrome |
|
Infertility, Decreased circulating aldosterone level, Precocious puberty, Increased circulating c... |
ORPHA:786 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Microphthalmia, Joint contracture of the hand, Small for gestational age, Thin... |
OMIM:214150 |
Bardet-Biedl Syndrome 19 |
|
External genital hypoplasia, Rod-cone dystrophy, Polydactyly, Hypogonadism, Obesity |
OMIM:615996 |
Retinopathy, Pigmentary, And Mental Retardation |
|
Arachnodactyly, Pigmentary retinopathy, Narrow palm, Truncal obesity, Cataract, Hypogonadism |
OMIM:268050 |
Noonan Syndrome 4 |
|
Wide mouth, Dental malocclusion, Blue irides, Large for gestational age, Cubitus valgus, Thick ve... |
OMIM:610733 |
Van Maldergem Syndrome 2 |
|
High palate, Dental malocclusion, Short clavicles, Talipes equinovarus, Malar flattening, Short f... |
OMIM:615546 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrocele testis, Limited pronation/supination of forearm, Cleft palate, Overlapping fingers, Con... |
OMIM:616738 |
Specific Granule Deficiency 2 |
|
Failure to thrive, Tooth malposition, Brachydactyly, Thrombocytopenia, Sandal gap, Conical tooth,... |
OMIM:617475 |
Ataxia-Telangiectasia |
|
Failure to thrive, Type II diabetes mellitus, Lymphopenia, Decreased circulating antibody level, ... |
ORPHA:100 |
Amed Syndrome, Digenic |
|
Failure to thrive, Hypoplasia of the uterus, Leukopenia, Long thumb, Adrenal hypoplasia, Bone mar... |
OMIM:619151 |
Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia |
OMIM:301200 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Adrenal insufficiency, Ulnar deviation of the hand, Hypodontia, Central adrenal insufficiency, Ca... |
OMIM:612079 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Retinal detachment, Posterior embryotoxon, Bilateral cleft lip and palate, Optic... |
ORPHA:1473 |
Foveal Hypoplasia 2 |
|
Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea, Optic nerve misrouting, Foveal ... |
OMIM:609218 |
Trisomy 13 |
|
Cleft palate, Abnormality of the dentition, Optic atrophy, Cataract, Microphthalmia, High, narrow... |
ORPHA:3378 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Coloboma |
OMIM:614497 |
Cockayne Syndrome A |
|
Retinal pigment epithelial mottling, Square pelvis bone, Carious teeth, Hypoplastic pelvis, Optic... |
OMIM:216400 |
Bardet-Biedl Syndrome 22 |
|
Rod-cone dystrophy, Polydactyly, Large for gestational age, Postaxial foot polydactyly, Macular h... |
OMIM:617119 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea, Coloboma |
OMIM:613703 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
High palate, Mandibular prognathia, Dental malocclusion |
OMIM:608931 |
Braddock-Carey Syndrome 2 |
|
Wide mouth, Cleft palate, Retrognathia, Clinodactyly, Microphthalmia, Pierre-Robin sequence, Thro... |
OMIM:619981 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal s... |
OMIM:144750 |
Pelger-Huet Anomaly |
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Failure to thrive, Gingival overgrowth, Neutropenia, Median cleft palate, Abnormality of the dent... |
OMIM:169400 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Optic atrophy, Failure to thrive, Microphthalmia, Coloboma |
OMIM:274270 |
Martsolf Syndrome 1 |
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High palate, Finger joint hypermobility, Short philtrum, Broad fingertip, Hypoplasia of the maxil... |
OMIM:212720 |
N Syndrome |
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Hypospadias, Cryptorchidism, Leukemia, Abnormality of chromosome stability |
OMIM:310465 |
Fibular Hemimelia |
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Arthralgia of the hip, Thrombocytopenia, Abnormality of fibula morphology, Genu valgum, Hip sublu... |
ORPHA:93323 |
Cerebellofaciodental Syndrome |
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Dental malocclusion, Clinodactyly of the 5th finger, Macrodontia of permanent maxillary central i... |
OMIM:616202 |
Nijmegen Breakage Syndrome-Like Disorder |
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Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Elsahy-Waters Syndrome |
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High palate, Impacted tooth, Megalocornea, Delayed eruption of teeth, Hypoplasia of the maxilla, ... |
OMIM:211380 |
Auriculocondylar Syndrome 1 |
|
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Micrognathia, Anterior open-bite m... |
OMIM:602483 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Menorrhagia, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Adams-Oliver Syndrome 4 |
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Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Ap... |
OMIM:615297 |
Schwartz-Jampel Syndrome |
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High palate, Pursed lips, Cleft palate, Micromelia, Microcornea, Genu valgum, Abnormal epiphysis ... |
ORPHA:800 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Female infertility, Premature ovarian insufficiency |
OMIM:619518 |
Cerebrooculofacioskeletal Syndrome 2 |
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Microphthalmia, Micropenis, Small for gestational age, Micrognathia, Camptodactyly of finger, Cat... |
OMIM:610756 |
Cataract 9, Multiple Types |
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Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract, Microphthalmia |
OMIM:604219 |
46,Xx Ovotesticular Disorder Of Sex Development |
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Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
Ciliary Dyskinesia, Primary, 40 |
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Infertility, Patent ductus arteriosus, Chronic sinusitis, Azoospermia, Absent outer dynein arms |
OMIM:618300 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
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High palate, Dental malocclusion, Spherophakia, Shallow anterior chamber, Malar flattening, Retro... |
OMIM:601552 |
Lessel-Kreienkamp Syndrome |
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Dental malocclusion, Clinodactyly of the 5th finger, Patent ductus arteriosus, Open mouth, Thin u... |
OMIM:619149 |
Radial-Renal Syndrome |
|
Absent radius, Chromosome breakage, Absent thumb |
OMIM:179280 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
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Abnormality of retinal pigmentation, Microphthalmia, Retinal detachment, Retinal dystrophy, Optic... |
OMIM:251270 |
Nanophthalmos 1 |
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Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
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Microphthalmia |
OMIM:613704 |
Malocclusion Due To Protuberant Upper Front Teeth |
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Dental malocclusion |
OMIM:154300 |
Nanophthalmos 2 |
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Microphthalmia |
OMIM:609549 |
Cornelia De Lange Syndrome 5 |
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High palate, Clinodactyly of the 5th finger, Cleft palate, Micropenis, Small hand, Retrognathia, ... |
OMIM:300882 |
Microphthalmia, Isolated, With Coloboma 5 |
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Anophthalmia, Oral cleft, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Chorioretinal ... |
OMIM:611638 |
Multiple Pterygium Syndrome, Escobar Variant |
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High palate, Triangular mouth, Cleft palate, Down-sloping shoulders, Ulnar deviation of finger, R... |
OMIM:265000 |
Forsythe-Wakeling Syndrome |
|
Decreased body weight, Thrombocytopenia |
OMIM:613606 |
Thrombocytopenia, Cyclic |
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Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Cousin Syndrome |
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Ambiguous genitalia, female, Cleft palate, Microcornea, Rhizomelia, Absent proximal finger flexio... |
OMIM:260660 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Increased circulating antibody level, Failure to thrive, Splenomegaly, Extramedullary hematopoies... |
OMIM:615285 |
Rubinstein-Taybi Syndrome 1 |
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High palate, Dental crowding, Prominent fingertip pads, Cleft palate, Premature thelarche, Single... |
OMIM:180849 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
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High palate, Failure to thrive, Dental malocclusion, External genital hypoplasia, Micrognathia, O... |
ORPHA:329178 |
Bosma Arhinia Microphthalmia Syndrome |
|
High palate, Dental malocclusion, Paranasal sinus hypoplasia, Cleft palate, Micropenis, Hypogonad... |
OMIM:603457 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... |
OMIM:125500 |
Hemifacial Hyperplasia |
|
Dental malocclusion, Hypoplasia of the maxilla |
OMIM:133900 |
Robinow Syndrome, Autosomal Dominant 3 |
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Triangular mouth, Cleft palate, Clitoral hypoplasia, Micrognathia, Agenesis of permanent teeth, L... |
OMIM:616894 |
Bardet-Biedl Syndrome 2 |
|
External genital hypoplasia, Retinal degeneration, Rod-cone dystrophy, Postaxial hand polydactyly... |
OMIM:615981 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Microphthalmia With Limb Anomalies |
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High palate, Cleft upper lip, Tibial bowing, Talipes equinovarus, Hand oligodactyly, Cleft palate... |
OMIM:206920 |
Robinow Syndrome |
|
External genital hypoplasia, Triangular mouth, Broad alveolar ridges, Clitoral hypoplasia, Bifid ... |
ORPHA:97360 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Gray Platelet Syndrome |
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Abnormality of thrombocytes, Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly |
ORPHA:721 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
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Micrognathia, Down-sloping shoulders, Microdontia, Camptodactyly, Astigmatism, Widely spaced teet... |
OMIM:619694 |
Stuve-Wiedemann Syndrome 2 |
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Neonatal death, Camptodactyly, Bowing of the long bones, Thrombocytopenia, Stillbirth, Short long... |
OMIM:619751 |
Cockayne Syndrome B |
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Microcornea, Square pelvis bone, Carious teeth, Hypoplastic pelvis, Optic atrophy, Microphthalmia... |
OMIM:133540 |
Zika Virus Disease |
|
Absent foveal reflex, Lens subluxation, Retinal pigment epithelial mottling, Macular atrophy, Cho... |
ORPHA:448237 |
Nance-Horan Syndrome |
|
Supernumerary tooth, Abnormality of the dentition, Retinal detachment, Microcornea, Cataract, Mic... |
ORPHA:627 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
Cleft Lip/Palate |
|
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... |
ORPHA:199306 |
Harrod Syndrome |
|
High palate, Failure to thrive, Dental malocclusion, Narrow mouth, External genital hypoplasia, H... |
OMIM:601095 |
Van Maldergem Syndrome 1 |
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High palate, Dental malocclusion, Short clavicles, Talipes equinovarus, Malar flattening, Short f... |
OMIM:601390 |
Fanconi Anemia, Complementation Group T |
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Duplication of thumb phalanx, Pancytopenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia... |
OMIM:616435 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
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High palate, Abnormal morphology of ulna, Abnormal metacarpal morphology, Hypogonadism, Obesity, ... |
ORPHA:2233 |
Idiopathic Uveal Effusion Syndrome |
|
Subretinal fluid, Exudative retinal detachment, Abnormal anterior eye segment morphology, Retinal... |
ORPHA:209956 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Overlapping toe, Wide mouth, Dental malocclusion, Abnormality of the endocrine system, Hypospadia... |
ORPHA:487796 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
High palate, Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal ge... |
ORPHA:1772 |
Baraitser-Winter Syndrome 1 |
|
Cleft upper lip, Failure to thrive, Wide mouth, Micropenis, Retrognathia, Long philtrum, Oral cle... |
OMIM:243310 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Abnormal femoral neck/head morphology, Slender finger, Cleft palate, Wide proximal f... |
ORPHA:163649 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Corneal opacity, Microphthalmia, Myopic astigmatism, Retinal detachment, Long philtrum, Microcorn... |
OMIM:152950 |
Bardet-Biedl Syndrome 9 |
|
Retinal degeneration, Rod-cone dystrophy, Postaxial polydactyly, Irregular menstruation, Brachyda... |
OMIM:615986 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia, Abnormality of the gingiva |
ORPHA:517 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Short toe, Clinodactyly of the 5th finger, Everted lower lip vermilion, Long philtru... |
OMIM:617877 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Flexion contracture of finger, Hypergonadotropic hypogonadism, Type I diabetes mellitus, Rocker b... |
OMIM:602782 |
Wolfram Syndrome 1 |
|
Megaloblastic anemia, Testicular atrophy, Limited mobility of proximal interphalangeal joint, Pig... |
OMIM:222300 |
Smith-Kingsmore Syndrome |
|
Short distal phalanx of finger, Wide mouth, Decreased circulating IgA level, Deep palmar crease, ... |
OMIM:616638 |
Myopathy, Centronuclear, X-Linked |
|
High palate, Dental malocclusion, Arachnodactyly, Slender toe, Cryptorchidism |
OMIM:310400 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Microphthalmia, Anemia, Thrombocytopenia, Failure to thrive ... |
ORPHA:858 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Menorrhagia, Leuk... |
OMIM:155100 |
Microphthalmia With Limb Anomalies |
|
High palate, Cleft palate, Macrodontia, True anophthalmia, Abnormality of the upper limb, Optic a... |
ORPHA:1106 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Adrenal insufficiency, Decreased mean corpuscular volume, Hepatosplenomegaly, Abnormality of the ... |
ORPHA:300298 |
Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability, Pancytopenia |
OMIM:600546 |
3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Thrombocytopenia, Cataract, Iris hypopigmentation |
ORPHA:67048 |
Fanconi Anemia, Complementation Group U |
|
Chromosome breakage, Absent thumb, Hypoplasia of the radius, Absent scaphoid, Patent ductus arter... |
OMIM:617247 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Coloboma, Oral cleft, Developmental cataract, Ocular anterior segment dysgenesis, Microphthalmia,... |
ORPHA:324416 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Iris coloboma, Microphthalmia, Microcoria, Chorioretinal coloboma |
OMIM:616428 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft upper lip, Cleft palate, Coloboma, Cataract, Microphthalmia |
OMIM:120433 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Cleft palate, ... |
ORPHA:3320 |
Focal Dermal Hypoplasia |
|
Labial hypoplasia, Cleft palate, Congenital hip dislocation, Clitoral hypoplasia, Delayed eruptio... |
OMIM:305600 |
Apert Syndrome |
|
Cleft palate, Cutaneous syndactyly, Delayed eruption of teeth, Rhizomelic arm shortening, Broad d... |
OMIM:101200 |
Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal calcium-phosphate regulating hormone level, Cheilitis, Abnormality of the dentition, Del... |
ORPHA:534 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia |
ORPHA:35612 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Decreased circulating IgA level, Joint contracture of the hand, Chromosome breakage, Conjunctival... |
OMIM:208910 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Impotence, Decreased palmar creases, Streak ovary, Hypergonadotropic hypogonadism, Primary amenor... |
ORPHA:2232 |
Folate Malabsorption, Hereditary |
|
Failure to thrive, Leukopenia, Oral ulcer, Neutropenia, Thrombocytopenia, Folate-responsive megal... |
OMIM:229050 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Hypogonadism |
OMIM:160900 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... |
ORPHA:90796 |
Cockayne Syndrome |
|
Corneal ulceration, Band keratopathy, Retinal degeneration, Retinal dystrophy, Carious teeth, Opt... |
ORPHA:191 |
Kapur-Toriello Syndrome |
|
Cleft upper lip, Hypoplastic labia majora, Microphthalmia, Joint contracture of the hand, Cleft p... |
OMIM:244300 |
Urban-Rogers-Meyer Syndrome |
|
Clinodactyly of the 5th finger, Hypoplasia of penis, Cryptorchidism, Micrognathia, Camptodactyly ... |
ORPHA:3409 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... |
ORPHA:90791 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Increased circu... |
OMIM:110100 |
Roberts Syndrome |
|
High palate, Cleft palate, Hypoplasia of the radius, Abnormality of the upper limb, Radioulnar sy... |
ORPHA:3103 |
Larsen-Like Syndrome |
|
Dental malocclusion, Clinodactyly of the 5th finger, Talipes equinovarus, Cleft palate, Malar fla... |
OMIM:608545 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Microphthalmia, Rhegmatogenous retinal detachment, Peripheral retinal avascu... |
ORPHA:891 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Bifid scrotum... |
OMIM:278850 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Menorrhagia, Gingival bleeding, Macrothrombocyt... |
OMIM:231200 |
Spondyloenchondrodysplasia |
|
Short distal phalanx of finger, Bowing of the legs, Metaphyseal dysplasia, Dental malocclusion, D... |
ORPHA:1855 |
Classic Galactosemia |
|
Oligomenorrhea, Primary amenorrhea, Decreased fertility in females, Secondary amenorrhea, Male in... |
ORPHA:79239 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Immotile sperm |
OMIM:614874 |
Frank-Ter Haar Syndrome |
|
High palate, Wide mouth, Megalocornea, Bowing of the long bones, Short long bone, Talipes equinov... |
OMIM:249420 |
Ivic Syndrome |
|
Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U... |
OMIM:147750 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Everted lower lip vermilion, D... |
ORPHA:181393 |
H Syndrome |
|
Amenorrhea, Cleft upper lip, Gingival overgrowth, Histiocytosis, Micropenis, Hepatosplenomegaly, ... |
ORPHA:168569 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia |
ORPHA:1574 |
Joubert Syndrome 22 |
|
2-3 toe syndactyly, Coloboma, Postaxial hand polydactyly, Postaxial foot polydactyly, Microphthal... |
OMIM:615665 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Acrodysostosis |
|
Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Delayed eruption of teeth, Hypoplasi... |
ORPHA:950 |
2Q31.1 Microdeletion Syndrome |
|
Cleft palate, Tapered finger, Optic disc coloboma, Abnormality of fibula morphology, Sandal gap, ... |
ORPHA:251014 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
High palate, Distally placed thumb, Cutaneous syndactyly, Short philtrum, Delayed eruption of tee... |
OMIM:619148 |
Lig4 Syndrome |
|
Clinodactyly of the 5th finger, Type II diabetes mellitus, Hypoplasia of penis, Leukocytosis, Thi... |
ORPHA:99812 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Cataract, Small for gestational age |
OMIM:278780 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Hip dislocation, Cataract, Bilateral microphthalmos |
OMIM:608763 |
Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Hyperinsulinemia, Hypoplasia of penis, Abnormal retinal vasc... |
ORPHA:791 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia, Diastema, Microcornea, Coloboma |
OMIM:300915 |
Warburg Micro Syndrome 3 |
|
Clinodactyly of the 5th finger, Narrow palate, Shallow anterior chamber, Micropenis, Micrognathia... |
OMIM:614222 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular osteomyelitis, Diaphyseal sclerosis, Persistence of primary teeth, Extramedullary hema... |
OMIM:259710 |
Martin-Probst Syndrome |
|
Chordee, Wide mouth, Dental malocclusion, Malar flattening, Bifid scrotum, Micropenis, Micrognath... |
OMIM:300519 |
Microphthalmia, Lenz Type |
|
Clinodactyly of the 5th finger, Hypospadias, Camptodactyly of finger, Abnormality of the dentitio... |
ORPHA:568 |
Schaaf-Yang Syndrome |
|
Micropenis, Small hand, Open mouth, Retrognathia, Rocker bottom foot, Brachydactyly, Narrow palm,... |
OMIM:615547 |
Fechtner syndrome |
|
Neutrophil inclusion bodies, Menorrhagia, Leukocyte inclusion bodies, Developmental cataract, Gia... |
OMIM:153640 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Cleft palate, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Cat... |
OMIM:274000 |
Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Increased circulating IgA level, Lymphopenia, Microphthalmia, Eclabion, Cariou... |
OMIM:616395 |
Lead Poisoning |
|
Infertility, Decreased male libido, Reduced sperm motility, Oligospermia, Abnormality of the mens... |
ORPHA:330015 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Erlenmeyer flask deformity of the femurs, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Fanconi Anemia, Complementation Group Q |
|
Bone marrow hypocellularity, Chromosome breakage, Absent thumb |
OMIM:615272 |
46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... |
OMIM:400045 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Splenomegaly, Abnormal macular morphology, Bone-marrow foam cells, Anemia... |
OMIM:607616 |
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies |
|
High palate, Overlapping toe, Dental malocclusion, Cleft palate, Overlapping fingers, Long philtr... |
OMIM:618975 |
Myopathy, Myofibrillar, 8 |
|
High palate, Dental malocclusion, Micrognathia, Joint contracture of the 5th finger, Scapular win... |
OMIM:617258 |
Xk Aprosencephaly Syndrome |
|
Narrow mouth, Abnormal morphology of the radius, Abnormal external genitalia, Microphthalmia |
ORPHA:3469 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Dislocated radial head, Decreased body weight, Adducted thumb, Micrognathia, Flared metaphysis, C... |
OMIM:610758 |
Mirage Syndrome |
|
Adrenal insufficiency, Decreased body weight, Talipes equinovarus, Lymphopenia, Hypergonadotropic... |
OMIM:617053 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Corneal opacity, Talipes equinovarus, Hypodontia, Small for gestational age, Micropenis, Deep pal... |
OMIM:301056 |
Osteopathia Striata With Cranial Sclerosis |
|
High palate, Cleft palate, Thick lower lip vermilion, Cleft upper lip, Clinodactyly of the 5th fi... |
OMIM:300373 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Failure to thrive, Talipes equinovarus, Anemia, Long philtrum, Neonatal death, Camptodactyly, Hyp... |
OMIM:608104 |
7Q11.23 Microduplication Syndrome |
|
High palate, Dental malocclusion, Retrognathia, Hypospadias, Short philtrum, Micrognathia, Diaste... |
ORPHA:96121 |
Pelvis-Shoulder Dysplasia |
|
Cleft palate, Microcornea, Ambiguous genitalia, Absent proximal finger flexion creases, Talipes e... |
ORPHA:2839 |
Non-Functioning Pituitary Adenoma |
|
Impotence, Decreased fertility in males, Central adrenal insufficiency, Erectile dysfunction, Hyp... |
ORPHA:91349 |
Myotonic Dystrophy 2 |
|
Oligospermia, Elevated circulating follicle stimulating hormone level, Type II diabetes mellitus,... |
OMIM:602668 |
Seckel Syndrome 2 |
|
Clinodactyly of the 5th finger, Small for gestational age, Hypospadias, Micrognathia, Microdontia... |
OMIM:606744 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial hand polydactyly, Retinal degeneration, Rod-cone dystrophy, Short fourth metatarsal, Mi... |
OMIM:615994 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|