Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
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 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
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 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
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 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
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 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
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 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Isochromosomy Yq |
|
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
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 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
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 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, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
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 |
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 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 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 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome |
|
Decreased testicular size |
ORPHA:436144 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Ring Chromosome Y Syndrome |
|
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... |
ORPHA:261529 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614840 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
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 |
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 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias |
OMIM:241100 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
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 |
Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia |
OMIM:615703 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... |
ORPHA:983 |
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 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Fanconi Anemia, Complementation Group S |
|
Chromosome breakage, Macrodontia, Proximal placement of thumb, Dental malocclusion, Narrow palate... |
OMIM:617883 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... |
OMIM:146110 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Bone Marrow Failure Syndrome 3 |
|
Congenital hip dislocation, Aplastic anemia, Micrognathia, Oral ulcer, Downturned corners of mout... |
OMIM:617052 |
Wt Limb-Blood Syndrome |
|
Pancytopenia, Ulnar deviation of the 3rd finger, Micrognathia, Absent thumb, Cryptorchidism, Shor... |
OMIM:194350 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
2Q24 Microdeletion Syndrome |
|
Cataract, Small for gestational age, Toe syndactyly, Camptodactyly of finger, Long fingers, Bulle... |
ORPHA:1617 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Duplication of thumb phalanx, Thrombocytopenia, Chromosomal... |
OMIM:616435 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Absent... |
OMIM:227650 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, External genital hypoplasia, Obesity, Hypogonadism, Polydactyly, Macular dystrophy, M... |
OMIM:615983 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C... |
OMIM:616108 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia, Finger syndactyly, Radioulnar synostosis, Hip dysplasia, Clinod... |
ORPHA:71289 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Fanconi Anemia, Complementation Group O |
|
Chromosome breakage, External genital hypoplasia, Proximal placement of thumb, Absent thumb, Cryp... |
OMIM:613390 |
Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability, Abnormal thumb morphology, Anemia, Neutropenia, Microphthalm... |
OMIM:614082 |
Seckel Syndrome 1 |
|
Dental crowding, Selective tooth agenesis, Single transverse palmar crease, Abnormally large glob... |
OMIM:210600 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Absent thumb, Absent rad... |
OMIM:600901 |
Gombo Syndrome |
|
Radial deviation of finger, Delayed puberty, Microphthalmia, Clinodactyly, Brachydactyly |
OMIM:233270 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... |
OMIM:619938 |
Mcdonough Syndrome |
|
Mandibular prognathia, Cachexia, Micrognathia, Open bite, Cryptorchidism, Dental malocclusion, Sh... |
ORPHA:2471 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Absent thumb, Cryptorchidism, Thrombocytop... |
OMIM:603467 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Abnormal dental morphology, Tapered finger, Cryptorchidism, Tooth malpositio... |
ORPHA:85274 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Cataract, Corneal opa... |
ORPHA:61 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Preaxial polydactyly, Obesity, Coloboma, Hypogonadism... |
ORPHA:141333 |
Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Microcornea, Persistent pupillary membr... |
OMIM:257850 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Microphthalmia, Isolated 4 |
|
Absent testis |
OMIM:613094 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow pa... |
OMIM:613684 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Absent thumb, Absent rad... |
OMIM:227645 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
Bardet-Biedl Syndrome 11 |
|
Retinopathy, Polydactyly, Hypogonadism, Obesity |
OMIM:615988 |
Bloom Syndrome |
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Chromosome breakage, Abnormality of chromosome stability, Syndactyly, Small for gestational age, ... |
OMIM:210900 |
Acrootoocular Syndrome |
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Decreased response to growth hormone stimulation test, Abnormal finger flexion crease, Micrognath... |
ORPHA:2980 |
Premature Ovarian Failure 10 |
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Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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Mandibular prognathia, Hypoplasia of the maxilla, Elevated circulating thyroid-stimulating hormon... |
OMIM:101800 |
Functioning Gonadotropic Adenoma |
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Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
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Short 3rd toe, Short 2nd toe, Short 5th finger, Short 4th toe, Decreased body weight, Failure to ... |
OMIM:619060 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
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Cataract, Microcornea, High palate, Hypogonadism, Narrow mouth, Microphthalmia, Retrognathia |
ORPHA:2528 |
Pierpont Syndrome |
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Microcornea, Widely spaced teeth, Short palm, Prominent fingertip pads, Micropenis, Cryptorchidis... |
OMIM:602342 |
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
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Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... |
ORPHA:753 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
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Selective tooth agenesis, Micrognathia, Microcytic anemia, T lymphocytopenia, Decreased serum est... |
ORPHA:2959 |
Bardet-Biedl Syndrome 4 |
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Syndactyly, External genital hypoplasia, Abnormality of the dentition, Cryptorchidism, Obesity, H... |
OMIM:615982 |
Camptodactyly Syndrome, Guadalajara Type 1 |
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Mandibular prognathia, Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodact... |
ORPHA:1327 |
Pierpont Syndrome |
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Thin upper lip vermilion, Small for gestational age, Cryptorchidism, Short toe, Broad philtrum, M... |
ORPHA:487825 |
Fragile X Syndrome |
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Macroorchidism, postpubertal, Mandibular prognathia, Folate-dependent fragile site at Xq28, Metac... |
OMIM:300624 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
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Cataract, Broad hallux, Sandal gap, Conical tooth, Persistence of primary teeth, Clinodactyly, Op... |
OMIM:618727 |
Fanconi Anemia, Complementation Group D1 |
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Acute myeloid leukemia, Short thumb, T-cell acute lymphoblastic leukemias, Bone marrow hypocellul... |
OMIM:605724 |
Fanconi Anemia, Complementation Group I |
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Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Absent thumb, Shor... |
OMIM:609053 |
Muenke Syndrome |
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Broad hallux, Capitate-hamate fusion, Dental malocclusion, Cone-shaped epiphyses of the phalanges... |
OMIM:602849 |
Mmep Syndrome |
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Mandibular prognathia, Median cleft lip, Cryptorchidism, Orofacial cleft, Split foot, Triphalange... |
ORPHA:3434 |
Cofs Syndrome |
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Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger, Micrognathia, Optic atrop... |
ORPHA:1466 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
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Mandibular prognathia, Brachydactyly, Abnormality of the dentition, Increased circulating IgE lev... |
ORPHA:1858 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
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Delayed eruption of teeth, Short metacarpal, Camptodactyly of finger, Tapered finger, Thenar musc... |
OMIM:612350 |
Fanconi Anemia, Complementation Group D2 |
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Reticulocytopenia, Aplasia of the 1st metacarpal, Neutropenia, Micropenis, Cryptorchidism, Short ... |
OMIM:227646 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
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Micrognathia, Diastema, Patchy atrophy of the retinal pigment epithelium, Dental malocclusion, Ma... |
ORPHA:436245 |
47,Xyy Syndrome |
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Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Fanconi Anemia, Complementation Group J |
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Microphthalmia, Short thumb, Bone marrow hypocellularity, Chromosomal breakage induced by crossli... |
OMIM:609054 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
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Cone/cone-rod dystrophy, Short metacarpal, Rhizomelia, Metaphyseal widening, Dental malocclusion,... |
OMIM:608940 |
Mulibrey Nanism |
|
Dental crowding, Corneal dystrophy, Single transverse palmar crease, Absent frontal sinuses, Thic... |
OMIM:253250 |
Intellectual Developmental Disorder, X-Linked 92 |
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Decreased testicular size |
OMIM:300851 |
Bardet-Biedl Syndrome 10 |
|
Retinal dystrophy, Obesity, Hypogonadism, Polydactyly, Rod-cone dystrophy |
OMIM:615987 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
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Thin upper lip vermilion, Hypospadias, Exaggerated cupid's bow, Tapered finger, Cryptorchidism, P... |
OMIM:619293 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
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Dental crowding, External genital hypoplasia, Micrognathia, Tibial bowing, Coloboma, High palate,... |
ORPHA:251028 |
Mental retardation, x-linked, syndromic, Turner type |
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Macroorchidism |
OMIM:300706 |
Auriculocondylar Syndrome 2A |
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Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den... |
OMIM:614669 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
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Mandibular prognathia, Tapered finger, Long fingers, Dental malocclusion, High palate |
OMIM:618292 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
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Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... |
ORPHA:752 |
Florid Cemento-Osseous Dysplasia |
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Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Warburg Micro Syndrome 1 |
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Overlapping toe, External genital hypoplasia, Micrognathia, Cryptorchidism, Optic atrophy, Develo... |
OMIM:600118 |
Fanconi Anemia, Complementation Group R |
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Radial dysplasia, Absent thumb, Agenesis of permanent teeth, Anemia, Bone marrow hypocellularity,... |
OMIM:617244 |
Immunodeficiency 54 |
|
Chromosome breakage, Splenomegaly, Adrenocorticotropic hormone excess, Adrenal insufficiency, Fai... |
OMIM:609981 |
Xq27.3Q28 Duplication Syndrome |
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Cryptorchidism, Small hand, Short foot, Truncal obesity, Thin vermilion border, Hypogonadism, Fai... |
ORPHA:261483 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
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Bifid scrotum, Hypoplasia of penis, Pancytopenia, Cataract, Micrognathia, Abnormality of the dent... |
ORPHA:85321 |
Odontotrichoungual-Digital-Palmar Syndrome |
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Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Brachydactyly, Single transverse... |
OMIM:601957 |
Robinow Syndrome, Autosomal Dominant 2 |
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Dental crowding, Micrognathia, Oligodontia, Micropenis, Calvarial osteosclerosis, Cleft soft pala... |
OMIM:616331 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Syndactyly, Short metacarpal, Cataract, Small for gestational age, Hypospadias... |
OMIM:123450 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Oculofaciocardiodental Syndrome |
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Microcornea, Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Iris coloboma, Short thumb... |
ORPHA:2712 |
Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, Obesity, 2-3 toe syndactyly, Hypogonadism, Polydactyly, Narrow mouth, Mala... |
OMIM:615984 |
Intermediate Osteopetrosis |
|
Abnormal dental morphology, Abnormality of the dentition, Thrombocytopenia, Dental malocclusion, ... |
ORPHA:210110 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
Primary Condylar Hyperplasia |
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Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
Takenouchi-Kosaki Syndrome |
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Thin upper lip vermilion, Hypospadias, Overlapping toe, Increased mean platelet volume, Proximal ... |
OMIM:616737 |
Cleft Palate, Isolated |
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Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Craniosynostosis 3 |
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Hallux valgus, Dental malocclusion, Single transverse palmar crease, Brachydactyly |
OMIM:615314 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
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Cataract, External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Retinal coloboma, M... |
ORPHA:363741 |
Harrod Syndrome |
|
Cataract, Hypospadias, Arachnodactyly, Cryptorchidism, Dental malocclusion, Abnormal shoulder mor... |
ORPHA:2115 |
Fanconi Anemia, Complementation Group P |
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Pancytopenia, Micrognathia, Absent thumb, Cryptorchidism, Short thumb, Hypoplasia of the radius, ... |
OMIM:613951 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
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Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Hamamy Syndrome |
|
Micrognathia, Microcytic anemia, High palate, Clinodactyly of the 5th finger, Hypoparathyroidism,... |
OMIM:611174 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysge... |
OMIM:610023 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
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Optic disc pallor, Cataract, Macular atrophy, Micrognathia, Optic atrophy, Microcornea, Talipes e... |
OMIM:616171 |
Momo Syndrome |
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Delayed eruption of teeth, Large for gestational age, Abnormality of the thyroid gland, Bilateral... |
ORPHA:2563 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Developmental cataract, Decreased testicular size, Thrombocytopenia, Adduct... |
OMIM:601815 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
Otodental Syndrome |
|
Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Abnormal dental pulp morp... |
ORPHA:2791 |
Microphthalmia With Limb Anomalies |
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Anophthalmia, Single transverse palmar crease, Deep philtrum, 2-3 toe cutaneous syndactyly, Tibia... |
OMIM:206920 |
Short Syndrome |
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Delayed eruption of teeth, Enlarged epiphyses, Rieger anomaly, Cataract, Small for gestational ag... |
OMIM:269880 |
Cohen Syndrome |
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Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Neutropenia, Clinod... |
ORPHA:193 |
Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Thrombocytopenia |
OMIM:209970 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Hypogonadotropic hypogonadism, Micrognathia, Abnormality of the dentit... |
OMIM:157900 |
Trichothiodystrophy 9, Nonphotosensitive |
|
High, narrow palate, Dental malocclusion, Brachydactyly |
OMIM:619692 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Maxillonasal Dysplasia, Binder Type |
|
Dental malocclusion, Short distal phalanx of finger |
OMIM:155050 |
Microphthalmia With Brain And Digit Anomalies |
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Finger syndactyly, Anophthalmia, Retinal dystrophy, Cataract, Sclerocornea, Proximal placement of... |
ORPHA:139471 |
N Syndrome |
|
Cryptorchidism, Leukemia, Hypospadias, Abnormality of chromosome stability |
OMIM:310465 |
Kallmann Syndrome With Spastic Paraplegia |
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Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Cleft upper lip, Cryptorchidism, Orofacial cleft, Cleft palate, Microcorne... |
OMIM:601349 |
Fragile X Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28, Sinusitis, Mandibular prognathia |
ORPHA:908 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Cryptorchidism, Obesity, Hypogonadism, Retinal coloboma, Microphthalmia, Rod-cone dystr... |
OMIM:601794 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Large for gestational age, Microcornea, Microphthalmia, Median cleft palate |
ORPHA:2432 |
Pycnodysostosis |
|
Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Micrognathia, Hy... |
ORPHA:763 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of ... |
OMIM:610628 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Cleft palate, Hydrocele testis, Radioulnar synostosis, Short middle phalanx of ... |
OMIM:616738 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, 2-3 toe cutaneous syndactyly, Microcornea, Oligodontia, Fused teeth, Contracture of... |
OMIM:300166 |
Zimmermann-Laband Syndrome |
|
Hallux valgus, Cataract, Abnormal external genitalia, Micrognathia, Splenomegaly, Supernumerary t... |
ORPHA:3473 |
Potocki-Lupski Syndrome |
|
Mandibular prognathia, Small for gestational age, Dental crowding, Micrognathia, Dental malocclus... |
OMIM:610883 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Diaphyseal dysplasia, Malar flattening, Failure to t... |
OMIM:614727 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Overlapping toe, Endometriosis, Abnormality of the ... |
ORPHA:363444 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... |
OMIM:616030 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Ataxia-Telangiectasia |
|
Failure to thrive, Diabetes mellitus, Abnormality of chromosome stability, Polycystic ovaries, De... |
ORPHA:100 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Cataract, Small for gestational age, Defective DNA repair after ultraviolet radia... |
OMIM:278780 |
Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Micrognathia, Absent thumb, Chromosomal breakage induced by crosslinking age... |
OMIM:614083 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Hypoplasia of the ... |
OMIM:614841 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Chorioretinal dysplasia |
OMIM:616335 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
Premature Ovarian Failure 12 |
|
Microphthalmia, Macular dystrophy, Primary amenorrhea |
OMIM:616947 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, C... |
OMIM:234100 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... |
OMIM:614897 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Abnormality of chromosome stability, Decreased circulating antibody le... |
ORPHA:859 |
Fanconi Anemia, Complementation Group V |
|
Chromosomal breakage induced by crosslinking agents, Thrombocytopenia, Bone marrow hypocellularit... |
OMIM:617243 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Patent ductus arter... |
ORPHA:290 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Temtamy Syndrome |
|
Brachydactyly, Micrognathia, Short toe, Thick lower lip vermilion, Chorioretinal coloboma, Clinod... |
ORPHA:1777 |
Mccune-Albright Syndrome |
|
Abnormal femur morphology, Hyperthyroidism, Precocious puberty, Abnormal facial skeleton morpholo... |
ORPHA:562 |
Noonan Syndrome 4 |
|
Large for gestational age, Cryptorchidism, Dental malocclusion, Blue irides, Wide mouth, Thick ve... |
OMIM:610733 |
Trichorhinophalangeal Syndrome, Type I |
|
Delayed eruption of teeth, Thin upper lip vermilion, Scapular winging, Short metacarpal, Ivory ep... |
OMIM:190350 |
Bardet-Biedl Syndrome 16 |
|
External genital hypoplasia, Obesity, Hypogonadism, Polydactyly, Rod-cone dystrophy, Retinal dege... |
OMIM:615993 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia, Coloboma, Microcornea |
OMIM:251505 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hallux valgus, Dental malocclusion |
OMIM:615541 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size |
OMIM:614880 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Dental malocclusion, Widely-spaced maxillar... |
OMIM:619719 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Cataract, Small for gestational age, Rocker bottom foot, Micrognathia,... |
OMIM:214150 |
Cerebellofaciodental Syndrome |
|
Cataract, Single transverse palmar crease, Tapered finger, Cryptorchidism, Dental malocclusion, S... |
OMIM:616202 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Hypogonadotropic hypogonadism, Camptodactyly of finger, Malar prominence, Micrognathia,... |
ORPHA:48431 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Cataract, Rhizomelia, Proximal placement of thumb, Micrognathia, Downtu... |
ORPHA:93267 |
Frontonasal Dysplasia 1 |
|
Median cleft lip, Cataract, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic fr... |
OMIM:136760 |
Sclerosteosis 1 |
|
Mandibular prognathia, Papilledema, Syndactyly, Optic atrophy, Irregular menstruation, Dental mal... |
OMIM:269500 |
Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability, Optic disc hypoplasia, Hypergonadotropic hypogonadism, Aplas... |
OMIM:300514 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Retinal degeneration, Abnormality of the dentition |
OMIM:251700 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Abnormality of ... |
ORPHA:3363 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Micrognathia, Cleft palate, Talipes equinovarus, Microphthalmia |
OMIM:616570 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Incr... |
OMIM:305620 |
Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Coxa vara, Microcornea, High palate, Wrist flexion contracture, Long ph... |
ORPHA:800 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Scapular winging, Small for gestational age, Dental malocclusion, Prom... |
OMIM:612921 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Obesity, Large hands, ... |
OMIM:157980 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Rhizomelia, Thrombocytopenia |
OMIM:166990 |
Van Maldergem Syndrome 2 |
|
Bifid scrotum, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Microgna... |
OMIM:615546 |
Trisomy 13 |
|
Anophthalmia, High, narrow palate, Iris coloboma, Bilateral single transverse palmar creases, Cry... |
ORPHA:3378 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Micrognathia, Cryptorchidism, Cleft palate, Bicornuate uterus, Neonatal death, Micr... |
OMIM:615524 |
Elsahy-Waters Syndrome |
|
Bifid scrotum, Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Cutane... |
OMIM:211380 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Coloboma, Narrow greater sciatic notch, Short phalanx of finger, S... |
ORPHA:85167 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Abnormal reproductive... |
ORPHA:65759 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Arachnodactyly, Broad hallux, Ectopia lentis, Cubitus valgus, Dental malo... |
OMIM:601552 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, High pa... |
ORPHA:1106 |
Cockayne Syndrome A |
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Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplas... |
OMIM:216400 |
Osteoporosis-Pseudoglioma Syndrome |
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Retinal detachment, Crumpled long bones, Corneal opacity, Isosexual precocious puberty, Metaphyse... |
ORPHA:2788 |
Robinow Syndrome, Autosomal Dominant 3 |
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Micrognathia, Downturned corners of mouth, Clitoral hypoplasia, Micropenis, Short phalanx of fing... |
OMIM:616894 |
Beaulieu-Boycott-Innes Syndrome |
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Premature ovarian insufficiency, Endometriosis, Micrognathia, Carious teeth, Velopharyngeal insuf... |
OMIM:613680 |
Fanconi Anemia |
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Micrognathia, Abnormal femur morphology, Leukopenia, High palate, Abnormality of the uterus, Trip... |
ORPHA:84 |
Myopathy, Centronuclear, X-Linked |
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Arachnodactyly, Cryptorchidism, Dental malocclusion, Slender toe, High palate |
OMIM:310400 |
Bilateral Striopallidodentate Calcinosis |
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Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
Multiple Pterygium Syndrome, Escobar Variant |
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Micrognathia, Downturned corners of mouth, High palate, Intercrural pterygium, Camptodactyly of t... |
OMIM:265000 |
Hemochromatosis, Type 1 |
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Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
Martsolf Syndrome 1 |
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Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, High palate, Short philtrum, Finger... |
OMIM:212720 |
Microphthalmia, Isolated 5 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:611040 |
Cornelia De Lange Syndrome 5 |
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Toe syndactyly, Proximal placement of thumb, Micrognathia, Cryptorchidism, Small hand, Cleft pala... |
OMIM:300882 |
Specific Granule Deficiency 2 |
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Absent neutrophil specific granules, Brachydactyly, Sandal gap, Conical tooth, Thrombocytopenia, ... |
OMIM:617475 |
Lig4 Syndrome |
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Pancytopenia, Small for gestational age, Cryptorchidism, Hypothyroidism, Acute lymphoblastic leuk... |
OMIM:606593 |
Amed Syndrome, Digenic |
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Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytopenia, Hypoplasia of the uterus, Leukopeni... |
OMIM:619151 |
Robinow Syndrome |
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Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Orofacial cleft, Clito... |
ORPHA:97360 |
Braddock-Carey Syndrome 2 |
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Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clinodactyly, Retrognathia, Thro... |
OMIM:619981 |
Auriculocondylar Syndrome 1 |
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Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... |
OMIM:602483 |
Pelger-Huet Anomaly |
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Abnormality of neutrophils, Abnormality of the dentition, Hyposegmentation of neutrophil nuclei, ... |
OMIM:169400 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
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Abnormal morphology of ulna, Decreased fertility, Obesity, High palate, Hypogonadism, Abnormal me... |
ORPHA:2233 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
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Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Endosteal Hyperostosis, Autosomal Dominant |
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Dental malocclusion, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal scle... |
OMIM:144750 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
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Mandibular prognathia, High palate, Dental malocclusion |
OMIM:608931 |
Baraitser-Winter Syndrome 1 |
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Thin upper lip vermilion, Cleft upper lip, Cryptorchidism, Duplication of phalanx of hallux, Pate... |
OMIM:243310 |
Microphthalmia, Isolated, With Coloboma 10 |
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Anophthalmia, Microcoria, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:616428 |
Rubinstein-Taybi Syndrome 1 |
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Dental crowding, Single transverse palmar crease, Premature thelarche, Micrognathia, Bilateral cr... |
OMIM:180849 |
Nijmegen Breakage Syndrome-Like Disorder |
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Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
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Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Bilateral cleft lip and palate, Cho... |
ORPHA:1473 |
Apert Syndrome |
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Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... |
OMIM:101200 |
46,Xy Sex Reversal 8 |
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Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
Bosma Arhinia Microphthalmia Syndrome |
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Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Cataract, Cryptorchidism,... |
OMIM:603457 |
Cockayne Syndrome B |
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Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Hypoplasia of the iris, Micr... |
OMIM:133540 |
Microphthalmia, Isolated, With Coloboma 6 |
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Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Microphthalmia, Coloboma, Failure to thrive, Optic atrophy |
OMIM:274270 |
Bardet-Biedl Syndrome 22 |
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Large for gestational age, Obesity, Postaxial foot polydactyly, Macular hypopigmentation, Hypogon... |
OMIM:617119 |
Lessel-Kreienkamp Syndrome |
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Thin upper lip vermilion, Patent ductus arteriosus, Dental malocclusion, Clinodactyly of the 5th ... |
OMIM:619149 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
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Testicular atrophy |
OMIM:601163 |
Adams-Oliver Syndrome 4 |
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Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd toe, Aplasia of the middle ... |
OMIM:615297 |
Fibular Hemimelia |
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Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Abnormal anterio... |
ORPHA:93323 |
Temtamy Syndrome |
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Dental crowding, Micrognathia, Lens luxation, Ectopia lentis, Hip dislocation, Hypoplasia of teet... |
OMIM:218340 |
Lig4 Syndrome |
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Hypoplasia of penis, Pancytopenia, Abnormality of chromosome stability, Micrognathia, Cryptorchid... |
ORPHA:99812 |
Ciliary Dyskinesia, Primary, 34 |
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Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
46,Xx Sex Reversal 4 |
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Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... |
OMIM:617480 |
Foveal Hypoplasia 2 |
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Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... |
OMIM:609218 |
Cataract 9, Multiple Types |
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Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
Kapur-Toriello Syndrome |
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Cataract, Overlapping fingers, Single transverse palmar crease, Camptodactyly of finger, Cleft up... |
OMIM:244300 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
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Decreased testicular size, Cataract, Hypogonadism, Cubitus valgus, Abnormality of the ovary |
ORPHA:1875 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
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Cataract, Cleft upper lip, Cleft palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:120433 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
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Impaired platelet aggregation, Macrothrombocytopenia, Menorrhagia, Thrombocytopenia |
OMIM:124900 |
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 |
Smith-Kingsmore Syndrome |
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Thin upper lip vermilion, Rhizomelia, Large for gestational age, Short proximal phalanx of finger... |
OMIM:616638 |
Hemifacial Hyperplasia |
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Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
46,Xx Ovotesticular Difference Of Sex Development |
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Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Dentinogenesis Imperfecta, Shields Type Iii |
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Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Radial-Renal Syndrome |
|
Absent radius, Chromosome breakage, Absent thumb |
OMIM:179280 |
Fraxf Syndrome |
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Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
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Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
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Thin upper lip vermilion, External genital hypoplasia, Micrognathia, Deep philtrum, Optic atrophy... |
ORPHA:329178 |
Facial Clefting, Oblique, 1 |
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Cleft upper lip, Cleft palate, Coloboma, Deep palmar crease, Microphthalmia |
OMIM:600251 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
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Cataract, Down-sloping shoulders, Micrognathia, Cubitus valgus, Astigmatism, Widely spaced teeth,... |
OMIM:619694 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Menorrhagia, Anemia |
OMIM:616176 |
Stt3B-Cdg |
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Small scrotum, Cryptorchidism, Optic atrophy, Micropenis, Failure to thrive, Thrombocytopenia |
ORPHA:370924 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, Coloboma, Sh... |
ORPHA:251014 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, External genital hypoplasia, Postaxial hand polydactyly, Obesity, Postaxial fo... |
OMIM:615981 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
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Abnormality of chromosome stability, Pancytopenia |
OMIM:600546 |
Forsythe-Wakeling Syndrome |
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Thrombocytopenia, Decreased body weight |
OMIM:613606 |
Microphthalmia, Lenz Type |
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Delayed eruption of teeth, Finger syndactyly, Cataract, Hypospadias, Abnormal dental morphology, ... |
ORPHA:568 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, High palate, Clinodac... |
ORPHA:3103 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Small scrotum, Small for gestational age, Cataract, Rocker bottom foot, Micrognathia, Camptodacty... |
OMIM:610756 |
Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Short long bone, Stillbirth, Camptodactyly, Neonatal death, Thrombocyto... |
OMIM:619751 |
Microphthalmia, Isolated, With Coloboma 5 |
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Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Chorioretinal coloboma, Microphthalmia, ... |
OMIM:611638 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Small scrotum, Cryptorchidism, Optic atrophy, Micropenis, Failure to thrive, Thrombocytopenia |
OMIM:615597 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Lymphopenia, Cataract, Increased circulating IgA level, Bilateral cryptorchidism, Ca... |
OMIM:616395 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Micrognathia, Absent frontal sinuses, Cryptorchidism, Patent ductus arteriosus, Dent... |
OMIM:102500 |
Cockayne Syndrome |
|
Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Retinal atrophy, Abnormal den... |
ORPHA:191 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Clitoral hypopla... |
OMIM:305600 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Retinal detachment, Cataract, Micrognathia, Coxa valga, Abnormality of the elbow, Cleft palate, F... |
ORPHA:163649 |
Bardet-Biedl Syndrome 19 |
|
Cone/cone-rod dystrophy, External genital hypoplasia, Mesoaxial hand polydactyly, Postaxial polyd... |
OMIM:615996 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Wrist swelling, Retinal pigment epithelial mottling, Chor... |
ORPHA:448237 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Hypospadias, Overlapping toe, Increased mea... |
ORPHA:487796 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Hypospadias, Micrognath... |
OMIM:601390 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Cataract, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypo... |
OMIM:222300 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Failure to thrive in infancy, Anemia, Microphthalmia, Thromb... |
ORPHA:858 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased circulating T4 concentration, Cryptorchidism, Thrombocytopenia, Patent ductus arteriosu... |
OMIM:608104 |
Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Hypospadias, Rhizomelia... |
OMIM:611209 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Microg... |
ORPHA:3409 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Mandibular prognathia, Retinal detachment, Thin upper lip vermilion, Cataract, Corneal opacity, C... |
OMIM:152950 |
Microphthalmia, Syndromic 13 |
|
Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Widely-spaced incisors |
OMIM:300915 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, ... |
OMIM:619148 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Retinal detachment, Short metacarpal, Cataract, Abnormality of the dentiti... |
ORPHA:627 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Small for gestational age, Optic nerve hypoplasia, Hypospadias, Corneal opacity, Rocker bottom fo... |
OMIM:301056 |
Ruvalcaba Syndrome |
|
Short palm, Short metacarpal, Retinal dystrophy, Dental crowding, Micromelia, Cryptorchidism, Lim... |
OMIM:180870 |
Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia, Abnormality of the menstrual cycle |
ORPHA:721 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Giant platelets, Impaired ADP-induced platelet aggregation, Neutrophi... |
OMIM:155100 |
Neurooculocardiogenitourinary Syndrome |
|
Bilateral cryptorchidism, Patent ductus arteriosus, Downturned corners of mouth, Coloboma, Peters... |
OMIM:618652 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Abnormality of the gingiva, Weight loss, Anemia |
ORPHA:517 |
3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Iris hypopigmentation, Thrombocytopenia, Cataract |
ORPHA:67048 |
Cerebellar-Facial-Dental Syndrome |
|
Cataract, Single transverse palmar crease, Micrognathia, Tapered finger, Cryptorchidism, Dental m... |
ORPHA:444072 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Larsen-Like Syndrome |
|
Dental malocclusion, Cleft palate, Radial deviation of the 4th finger, Talipes equinovarus, Clino... |
OMIM:608545 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Rocker bottom foot, Cryptorchidi... |
OMIM:617053 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
Classic Galactosemia |
|
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... |
ORPHA:79239 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Orofacial cleft, Developmental cataract, Coloboma, Retinal dysplasia, Microphthalmia, Ocular ante... |
ORPHA:324416 |
Fanconi Anemia, Complementation Group U |
|
Chromosome breakage, Absent thumb, Absent radius, Patent ductus arteriosus, Hypoplasia of the rad... |
OMIM:617247 |
Frank-Ter Haar Syndrome |
|
Micrognathia, Abnormally large globe, High palate, Short palm, Megalocornea, Short phalanx of fin... |
OMIM:249420 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Sideroblastic anemia, Diabetes mellitus, Cryptorchidism, Thiamine-respon... |
OMIM:249270 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Decr... |
ORPHA:1855 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Thin upper lip vermilion, Dental crowding, Sandal gap, Short toe, Pierre-Robin sequence, Anterior... |
OMIM:617877 |
Holoprosencephaly 9 |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... |
OMIM:610829 |
Walker-Warburg Syndrome |
|
Retinal detachment, Hypoplasia of penis, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia... |
ORPHA:899 |
Schaaf-Yang Syndrome |
|
Mandibular prognathia, Failure to thrive in infancy, Abnormality of the philtrum, Rocker bottom f... |
OMIM:615547 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Abnormal retinal... |
ORPHA:791 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Cataract 11, Multiple Types |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610623 |
Atelis Syndrome 1 |
|
Cataract, Carious teeth, Thrombocytopenia, Leukopenia, High palate, Long philtrum, Hypothyroidism... |
OMIM:620184 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Small scrotum, Clinodactyly of the 5th finger, Abnorm... |
ORPHA:96263 |
Joubert Syndrome 22 |
|
Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Coloboma, Retinal dys... |
OMIM:615665 |
Acrodysostosis |
|
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Hypoplasia of the... |
ORPHA:950 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Cataract, Exaggerated cupid's bow, Corneal opacity, Scler... |
ORPHA:284160 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Menorrhagia, Gingival bleeding, Impaire... |
OMIM:231200 |
Martin-Probst Syndrome |
|
Bifid scrotum, Pancytopenia, Micrognathia, Cryptorchidism, Thick lower lip vermilion, Dental malo... |
OMIM:300519 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Ritscher-Schinzel Syndrome 3 |
|
Thin upper lip vermilion, Hypoplasia of the ulna, Micrognathia, Cryptorchidism, Ulnar bowing, Sho... |
OMIM:619135 |
Myopathy, Myofibrillar, 8 |
|
Scapular winging, Micrognathia, Dental malocclusion, High palate, Joint contracture of the 5th fi... |
OMIM:617258 |
Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Oral ulcer, Leukopenia, Neutropenia, Failure to thrive, T... |
OMIM:229050 |
Warburg Micro Syndrome 3 |
|
Small scrotum, Cataract, Micrognathia, Hypoplastic labia minora, Optic atrophy, Narrow palate, De... |
OMIM:614222 |
7Q11.23 Microduplication Syndrome |
|
Thin upper lip vermilion, Hypospadias, Short lingual frenulum, Single transverse palmar crease, M... |
ORPHA:96121 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Small hand, ... |
OMIM:300869 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulating antibody le... |
OMIM:615285 |
Congenital Myopathy 17 |
|
Mandibular prognathia, Tented upper lip vermilion, Failure to thrive in infancy, Overlapping toe,... |
OMIM:618975 |
Bresek Syndrome |
|
Decreased testicular size, Optic nerve hypoplasia, Cryptorchidism, Postaxial hand polydactyly, Cl... |
ORPHA:85284 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28, Decreased serum insulin-like growth factor... |
ORPHA:85327 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|