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 |
|
Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplas... |
OMIM:216400 |
Osteoporosis-Pseudoglioma Syndrome |
|
Retinal detachment, Crumpled long bones, Corneal opacity, Isosexual precocious puberty, Metaphyse... |
ORPHA:2788 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Micrognathia, Downturned corners of mouth, Clitoral hypoplasia, Micropenis, Short phalanx of fing... |
OMIM:616894 |
Beaulieu-Boycott-Innes Syndrome |
|
Premature ovarian insufficiency, Endometriosis, Micrognathia, Carious teeth, Velopharyngeal insuf... |
OMIM:613680 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Leukopenia, High palate, Abnormality of the uterus, Trip... |
ORPHA:84 |
Myopathy, Centronuclear, X-Linked |
|
Arachnodactyly, Cryptorchidism, Dental malocclusion, Slender toe, High palate |
OMIM:310400 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Micrognathia, Downturned corners of mouth, High palate, Intercrural pterygium, Camptodactyly of t... |
OMIM:265000 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
Martsolf Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, High palate, Short philtrum, Finger... |
OMIM:212720 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:611040 |
Cornelia De Lange Syndrome 5 |
|
Toe syndactyly, Proximal placement of thumb, Micrognathia, Cryptorchidism, Small hand, Cleft pala... |
OMIM:300882 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Brachydactyly, Sandal gap, Conical tooth, Thrombocytopenia, ... |
OMIM:617475 |
Lig4 Syndrome |
|
Pancytopenia, Small for gestational age, Cryptorchidism, Hypothyroidism, Acute lymphoblastic leuk... |
OMIM:606593 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytopenia, Hypoplasia of the uterus, Leukopeni... |
OMIM:619151 |
Robinow Syndrome |
|
Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Orofacial cleft, Clito... |
ORPHA:97360 |
Braddock-Carey Syndrome 2 |
|
Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clinodactyly, Retrognathia, Thro... |
OMIM:619981 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... |
OMIM:602483 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Abnormality of the dentition, Hyposegmentation of neutrophil nuclei, ... |
OMIM:169400 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal morphology of ulna, Decreased fertility, Obesity, High palate, Hypogonadism, Abnormal me... |
ORPHA:2233 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal scle... |
OMIM:144750 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Mandibular prognathia, High palate, Dental malocclusion |
OMIM:608931 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Cleft upper lip, Cryptorchidism, Duplication of phalanx of hallux, Pate... |
OMIM:243310 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microcoria, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:616428 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Single transverse palmar crease, Premature thelarche, Micrognathia, Bilateral cr... |
OMIM:180849 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Bilateral cleft lip and palate, Cho... |
ORPHA:1473 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... |
OMIM:101200 |
46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Cataract, Cryptorchidism,... |
OMIM:603457 |
Cockayne Syndrome B |
|
Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Hypoplasia of the iris, Micr... |
OMIM:133540 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Coloboma, Failure to thrive, Optic atrophy |
OMIM:274270 |
Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Obesity, Postaxial foot polydactyly, Macular hypopigmentation, Hypogon... |
OMIM:617119 |
Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Patent ductus arteriosus, Dental malocclusion, Clinodactyly of the 5th ... |
OMIM:619149 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Adams-Oliver Syndrome 4 |
|
Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd toe, Aplasia of the middle ... |
OMIM:615297 |
Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Abnormal anterio... |
ORPHA:93323 |
Temtamy Syndrome |
|
Dental crowding, Micrognathia, Lens luxation, Ectopia lentis, Hip dislocation, Hypoplasia of teet... |
OMIM:218340 |
Lig4 Syndrome |
|
Hypoplasia of penis, Pancytopenia, Abnormality of chromosome stability, Micrognathia, Cryptorchid... |
ORPHA:99812 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
46,Xx Sex Reversal 4 |
|
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... |
OMIM:617480 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... |
OMIM:609218 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
Kapur-Toriello Syndrome |
|
Cataract, Overlapping fingers, Single transverse palmar crease, Camptodactyly of finger, Cleft up... |
OMIM:244300 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
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 |
|
Cataract, Cleft upper lip, Cleft palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:120433 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Menorrhagia, Thrombocytopenia |
OMIM:124900 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Smith-Kingsmore Syndrome |
|
Thin upper lip vermilion, Rhizomelia, Large for gestational age, Short proximal phalanx of finger... |
OMIM:616638 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
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 |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Thin upper lip vermilion, External genital hypoplasia, Micrognathia, Deep philtrum, Optic atrophy... |
ORPHA:329178 |
Facial Clefting, Oblique, 1 |
|
Cleft upper lip, Cleft palate, Coloboma, Deep palmar crease, Microphthalmia |
OMIM:600251 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
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 |
|
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 |
|
Abnormality of chromosome stability, Pancytopenia |
OMIM:600546 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Decreased body weight |
OMIM:613606 |
Microphthalmia, Lenz Type |
|
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 |
|
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 |
|
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars... |
OMIM:609945 |
Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ... |
OMIM:620133 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Noonan Syndrome 1 |
|
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to ... |
OMIM:163950 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Dental crowding, Hyperautofluorescent macular lesion, Hi... |
OMIM:209900 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Down-sloping shoulders, Metatarsus adductus, Cryptorchidism, Deep philtrum, Trismus, ... |
OMIM:227330 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
Niemann-Pick Disease, Type B |
|
Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Abnormal macular morphology, Sea-blue his... |
OMIM:607616 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Cataract, Cryptorchidism, Neonatal death, Microphthalmia |
OMIM:613730 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Splenomegaly, Anemia, Erlenmeyer flask deformity of the femurs, Thrombocytopenia |
OMIM:610539 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco... |
OMIM:274000 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
Kabuki Syndrome 2 |
|
Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Hip dislocation, Cleft palate, Hig... |
OMIM:300867 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High palate, Cli... |
OMIM:300373 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Crypto... |
OMIM:209885 |
Pelvis-Shoulder Dysplasia |
|
Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx, Microcornea, Iris co... |
ORPHA:2839 |
Malaria |
|
Anemia, Retinopathy, Thrombocytopenia |
ORPHA:673 |
Alg8-Cdg |
|
Cataract, Small for gestational age, Thrombocytopenia, Optic atrophy, Macroglossia, Talipes equin... |
ORPHA:79325 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Short metacarpal, Diabetes mellitus, Hypospadias, Cryptorchidism, Blue iri... |
OMIM:614613 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage, Bone marrow hypocellularity, Absent thumb |
OMIM:615272 |
Sengers Syndrome |
|
Cataract, Premature ovarian insufficiency, Thrombocytopenia, Developmental cataract |
OMIM:212350 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Cataract, Exaggerated cupid's bow, Sclerocornea, Micrognathia, Cryp... |
OMIM:614230 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Arachnodactyly, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Metaphyseal widening, Me... |
OMIM:182212 |
Lead Poisoning |
|
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Decreased circulati... |
ORPHA:330015 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... |
OMIM:267760 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Cataract, Toe syndactyly, Cryptorchidism, Patent ductus arteriosus, Short f... |
ORPHA:250989 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Neutropenia, Rhizomelia, Gin... |
ORPHA:175 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mandibular prognathia, Hypospadias, Sandal gap, Cryptorchidism, Thick lower lip vermilion, Small ... |
OMIM:300354 |
Seckel Syndrome 2 |
|
Small for gestational age, Hypospadias, Micrognathia, Clinodactyly of the 5th finger, Microdontia... |
OMIM:606744 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal morphology of the radius, Abnormal external genitalia, Narrow mouth |
ORPHA:3469 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Optic atrophy, Unilateral microphthalmos, Failure to thrive, Anemia |
OMIM:615085 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Lymphatic Malformation 10 |
|
Hydrocele testis |
OMIM:619369 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of inadequate pro... |
ORPHA:75564 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Thin upper lip vermilion, Hyperextensibility of the finger joints, External genital hypoplasia, M... |
ORPHA:3041 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ... |
OMIM:259710 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Small for gestational age, Abnormal immunoglobulin level, Bilateral cryptorchidism,... |
OMIM:242900 |
Fanconi Anemia, Complementation Group N |
|
Short thumb, Aplastic anemia, Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Corneal opacity, Accessory oral frenulum, Micrognathia, Small ha... |
OMIM:619339 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Abnormality of the dentition, Open bite, Micrognathia, D... |
OMIM:115150 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Failure to thrive in infancy, Abnormal retinal morphology, Rocker bottom foot, Micrognathia, Camp... |
OMIM:610758 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Polydactyly, Microphthalmia, Leukemia, Smooth philtrum |
OMIM:602501 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Thrombocytopenia, Paris-Trousseau Type |
|
Clinodactyly, Radial deviation of finger, Thrombocytopenia, Micrognathia |
OMIM:188025 |
Au-Kline Syndrome |
|
Overlapping toe, Postaxial polydactyly, Coxa valga, Cryptorchidism, Dental malocclusion, Retrogna... |
OMIM:616580 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange, Decreased body weight |
OMIM:618097 |
Isolated Agammaglobulinemia |
|
Failure to thrive, Sinusitis, Abnormality of neutrophils, Clinodactyly of the 5th toe, Thrombocyt... |
ORPHA:229717 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, Preaxial polydact... |
OMIM:614976 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Cleft upper lip, Thrombocytopenia, Cleft palate, Hydrocele testis, Slender long bone, Increased s... |
ORPHA:96181 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Postaxial polydactyly, Micrognathia, Cryptorchidism, Deep philtrum, 2-3... |
ORPHA:404440 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
Oliver Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Dental mal... |
ORPHA:2920 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Mesoaxial polydactyly, Bone spicule pigmentation of the retina, Short fo... |
OMIM:615994 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Symphalangi... |
ORPHA:2547 |
Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Mosaic Trisomy 1 |
|
Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Micropenis, Absent distal ... |
ORPHA:1692 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
Cousin Syndrome |
|
Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Microcornea, Ambiguous ge... |
OMIM:260660 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, Abnormal pelvi... |
ORPHA:3079 |
Gracile Bone Dysplasia |
|
Asplenia, Flared metaphysis, Hypoplastic spleen, Slender long bone, Aniridia, Microphthalmia, Mic... |
OMIM:602361 |
Braddock-Carey Syndrome 1 |
|
Clinodactyly, Pierre-Robin sequence, Small hand, Cleft palate, Everted lower lip vermilion, Thick... |
OMIM:619980 |
Cat-Eye Syndrome |
|
Microphthalmia, Hip dysplasia, Iris coloboma, Chorioretinal coloboma |
ORPHA:195 |
Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Oral ulcer, Leukopenia, Optic neuritis, Lymphopenia, Thrombocytopenia |
OMIM:301080 |
16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Proximal placement of thumb, Micrognathia, Cryptorchidism, Thrombocytopen... |
ORPHA:261250 |
Nance-Horan Syndrome |
|
Diastema, Developmental cataract, Microcornea, Mulberry molar, Posterior Y-sutural cataract, Broa... |
OMIM:302350 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Microcornea, High palate, Short ... |
OMIM:268400 |
Preeclampsia |
|
Increased body mass index, Small for gestational age, Polycystic ovaries, Type I diabetes mellitu... |
ORPHA:275555 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Congenital hip dislocation, Cryptorchidism, Cleft palate, Microphthalmia |
OMIM:164180 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placemen... |
ORPHA:435638 |
Bleeding Disorder, Platelet-Type, 20 |
|
Menorrhagia, Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Menorrhagia, Thrombocytopenia |
OMIM:613554 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Coloboma, Hypospadias, Broad hallux, Cryptorchidism, Supernumerary tooth, Talon ... |
ORPHA:353281 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... |
ORPHA:432 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Micrognathia, Cryptorchidism, Patent ductus arteriosus, Normochromic anemia, Neutropenia, Failure... |
OMIM:614857 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Small scrotum, Clinodactyly of the 5th finger, Abnorm... |
ORPHA:96264 |
Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Micrognathia, Cryptorchidism, Optic atrophy, Hip dysplasia, Astigmatism, Chorioretin... |
ORPHA:494344 |
Adams-Oliver Syndrome |
|
Finger syndactyly, Brachydactyly, Cataract, Absent toe, Split hand, Absent hand, Leukopenia, Abno... |
ORPHA:974 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Cataract, Overlapping toe, Cryptorchidism, Optic atrophy, Developmental cataract, ... |
OMIM:614225 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
High, narrow palate, Downturned corners of mouth, Coloboma, Abnormal optic nerve morphology, Hypo... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
High, narrow palate, Downturned corners of mouth, Coloboma, Abnormal optic nerve morphology, Hypo... |
ORPHA:352665 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Bardet-Biedl Syndrome 8 |
|
Hypospadias, Postaxial polydactyly, Obesity, Hypogonadism, Rod-cone dystrophy |
OMIM:615985 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Downturned corners of mouth, Chorioretinal hypopigmen... |
ORPHA:398079 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Single transverse palmar crease, Micrognathia, Diastema,... |
OMIM:620185 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Impaired T cell function, Postaxial polydactyly, Splenomegaly, Patent ductus arteri... |
OMIM:614576 |
Myotonic Dystrophy 2 |
|
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... |
OMIM:602668 |
Hydrolethalus |
|
Anophthalmia, Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Submucous cle... |
ORPHA:2189 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Hypospadias, Unilateral microphthalmos, Bilateral cleft lip and palate,... |
OMIM:618874 |
Jacobsen Syndrome |
|
Hypospadias, Micrognathia, Cryptorchidism, Optic atrophy, Microcornea, Clitoral hypoplasia, Macul... |
OMIM:147791 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Splenic rupture, Developmental cataract, Clubbing of fingers, Gingival ... |
ORPHA:335 |
Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Patellar hypoplasia, Neutropenia, Microdontia, Juvenile cataract, Short phalanx ... |
ORPHA:221008 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... |
ORPHA:137888 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... |
ORPHA:85450 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, Coloboma, High palate, Syndactyly, Hypospadias, Broad hallux, Cryp... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, Coloboma, High palate, Syndactyly, Hypospadias, Broad hallux, Cryp... |
ORPHA:353277 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Decrease... |
ORPHA:2234 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia, Retinal fold |
OMIM:613517 |
Phelan-Mcdermid Syndrome |
|
Micrognathia, Patent ductus arteriosus, Dental malocclusion, 2-3 toe syndactyly, Large hands, Hig... |
OMIM:606232 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism, Cleft palate, Tooth agenesis, High palate, Microphthalmia |
ORPHA:1135 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Hypospadias, Cataract, Sclerocornea, Rhizomelia, Precocious puberty, 2-3 toe syndac... |
OMIM:615877 |
Lathosterolosis |
|
Hypoplasia of penis, Cataract, Toe syndactyly, Micrognathia, Postaxial hand polydactyly, Gingival... |
ORPHA:46059 |
Joubert Syndrome 37 |
|
Postaxial polydactyly, Cryptorchidism, Obesity, High palate, Microphthalmia, Micropenis, Decrease... |
OMIM:619185 |
Sandestig-Stefanova Syndrome |
|
Small for gestational age, Rocker bottom foot, Orofacial cleft, Developmental cataract, High pala... |
OMIM:618804 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Cleft upper lip, Cleft palate, Polydactyly, Talipes equinovarus, Ambiguous genitali... |
OMIM:613885 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Micrognathia, Cryptorchidism,... |
ORPHA:2510 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Denta... |
OMIM:615560 |
Wilson Disease |
|
Abnormality of the hand, Abnormality of the menstrual cycle, Thrombocytopenia, Splenomegaly, Incr... |
ORPHA:905 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Sandal gap, Micrognathia, Lens coloboma, 2-3 toe syndactyly, Small thenar ... |
OMIM:618914 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Downturned corners of m... |
OMIM:618371 |
Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Decreased circulating antibody level, Conjunctivitis, Neutropenia,... |
OMIM:616740 |
Marinesco-Sjögren Syndrome |
|
Cataract, External genital hypoplasia, Coxa valga, Avascular necrosis of the capital femoral epip... |
ORPHA:559 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Increas... |
OMIM:618048 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Cataract, C... |
OMIM:610125 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Micrognathia, Proximal placement of thumb, High, nar... |
OMIM:122470 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Syndactyly, Abnormality of the hand, Cryptorchidism, Clinodactyly, Bilater... |
ORPHA:369891 |
Schimke Immuno-Osseous Dysplasia |
|
Lymphopenia, Wide capital femoral epiphyses, Small for gestational age, Impaired T cell function,... |
ORPHA:1830 |
Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Absent platelet dense granules, Metrorrhagia, Impaired ADP-induced plate... |
OMIM:614074 |
Hypogonadism-Cataract Syndrome |
|
Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal... |
OMIM:240950 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Microretrognat... |
OMIM:616300 |
Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of penis, Small scrotum, Cataract, Tapered finger, Cryptorchidism, Short toe, Orofacia... |
ORPHA:127 |
Ohdo Syndrome, X-Linked |
|
Small scrotum, Overlapping toe, Ulnar deviation of the hand, Micrognathia, Cryptorchidism, Narrow... |
OMIM:300895 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Optic... |
ORPHA:1553 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Large for gestational age, Thrombocytopenia, High palate, Bone marrow hypocellularity... |
OMIM:614520 |
Image Syndrome |
|
Metaphyseal dysplasia, Hypospadias, Adrenal hypoplasia, Micromelia, Cryptorchidism, Hypogonadism |
ORPHA:85173 |
Noonan Syndrome 12 |
|
Lymphopenia, Decreased response to growth hormone stimulation test, Thrombocytopenia, Proximal pl... |
OMIM:618624 |
Dubowitz Syndrome |
|
Aplastic anemia, Single transverse palmar crease, Micrognathia, Hypoplasia of the iris, High pala... |
OMIM:223370 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Femur fracture, Carious teeth, Thrombocytopenia, Splenomegaly, Optic atrophy, Flare... |
OMIM:259700 |
Dk Phocomelia Syndrome |
|
Phocomelia, Thrombocytopenia |
OMIM:223340 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Retinal dystrophy, Microgna... |
ORPHA:251066 |
Congenital Varicella Syndrome |
|
Microphthalmia, Cataract, Micromelia |
ORPHA:291 |
Alg12-Cdg |
|
Proximal placement of thumb, Micrognathia, Short philtrum, Clinodactyly of the 5th finger, Microp... |
ORPHA:79324 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High p... |
ORPHA:861 |
Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility, Asplenia, Clubbing, Polysplenia, R... |
ORPHA:244 |
3Q29 Microduplication Syndrome |
|
Cataract, Toe syndactyly, Sandal gap, Sclerocornea, Abnormality of the dentition, Deep philtrum, ... |
ORPHA:251038 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Genital ulcers, Oral ulcer, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Anterior open-bite malocclusion, Hypothyroidism, Hashimoto thyroiditis, Thrombocyto... |
ORPHA:83601 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Short metacarpal, Cataract, Short toe, Short metatarsal, Obesity, Pseu... |
OMIM:103580 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Microcornea, Coloboma, Chorioretinal coloboma, Triphalangeal thumb, Iris c... |
ORPHA:959 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur ... |
ORPHA:666 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Sandal gap, Micrognathia, Tapered finger, Erythroid hypoplasia, Thrombocytopenia, ... |
OMIM:620072 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Syndactyly, Radial bowing, Apl... |
OMIM:605432 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Nanophthalmos 4 |
|
Microphthalmia, Optic disc drusen |
OMIM:615972 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Micrognathia, Microcornea, Coloboma, Iris transillumination defect, Decreased body weig... |
OMIM:617306 |
Acromesomelic Dysplasia 3 |
|
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... |
OMIM:609441 |
Warburg Micro Syndrome 4 |
|
Small scrotum, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Narrow mouth, ... |
OMIM:615663 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Small scrotum, Hypospadias, Micrognathia, Cryptorchidism, Cleft palate, Upper limb asymmetry, Mic... |
ORPHA:2505 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ... |
ORPHA:464738 |
Baraitser-Winter Syndrome 2 |
|
Thin upper lip vermilion, Orofacial cleft, Wide mouth, Coloboma, Long philtrum, Microphthalmia, R... |
OMIM:614583 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Overlapping fingers, Overlapping toe, Cryptorchidism, High, narrow pala... |
OMIM:618494 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Thrombocytopenia, ... |
ORPHA:507 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Chorioretinal dysplasia, Micrognathi... |
ORPHA:534 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Cataract, Microcytic anemia, Optic atrophy, Coloboma, Microphthalmia, Failure to thrive |
OMIM:612379 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Short philtrum, Neutropenia, Clinodactyly, Decreased platelet glycoprotein... |
OMIM:603585 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Optic atrophy, Decreased fert... |
ORPHA:1173 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Micrognathia, Cryptorchidism, Optic atrophy, Orofacial cleft, Mi... |
ORPHA:3301 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Tented upper lip vermilion, Cataract, Single transverse palmar crease, Broad hallux, Retinal pigm... |
OMIM:614105 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Meningioma |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
Transaldolase Deficiency |
|
Pancytopenia, Small for gestational age, Thrombocytopenia, Deep philtrum, Splenomegaly, Patent du... |
OMIM:606003 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of neutrophils, Micrognathia, Abnormality of thumb p... |
ORPHA:235 |
Adams-Oliver Syndrome 2 |
|
Single transverse palmar crease, Micrognathia, Optic atrophy, Developmental cataract, Absent dist... |
OMIM:614219 |
Marden-Walker Syndrome |
|
Hypospadias, Arachnodactyly, Micrognathia, Cryptorchidism, High, narrow palate, Cleft palate, Rad... |
OMIM:248700 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Optic atrophy, Neutropenia, Diabet... |
OMIM:598500 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Cleft upper lip, Cryptorchidism... |
OMIM:612530 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Anophthalmia, Hypospadias, Dental crowding, Corneal opacity, Cle... |
OMIM:219000 |
Ring Chromosome 10 Syndrome |
|
Sandal gap, Cachexia, Micrognathia, Tapered finger, Thin vermilion border, Long philtrum, Microph... |
ORPHA:1438 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Short metacarpal, Cataract, Elevated circulating thyroid-stimulating h... |
OMIM:612462 |
Bone Marrow Failure Syndrome 4 |
|
Rhizomelia, Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity... |
OMIM:618116 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
3Q29 Microdeletion Syndrome |
|
Cataract, Hypospadias, Dental crowding, Abnormality of the dentition, Tapered finger, Patent duct... |
ORPHA:65286 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Short palm, Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Decr... |
OMIM:241410 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepa... |
OMIM:613101 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia |
OMIM:615010 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Patent ductus arteriosus, Abnormal vagina morphology, Anemia |
ORPHA:2123 |
Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Chorioretinal coloboma, Iris coloboma, F... |
ORPHA:2092 |
Monosomy 18P |
|
Micrognathia, Carious teeth, Cleft palate, Downturned corners of mouth, Short philtrum, Hypodonti... |
ORPHA:1598 |
Lissencephaly 8 |
|
Microphthalmia, Cataract, Optic atrophy, Talipes equinovarus |
OMIM:617255 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
Oculoauricular Syndrome |
|
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... |
OMIM:612109 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Myocardial necrosis, Pancytopenia, Small for gestational age, Metaphyseal... |
OMIM:260400 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Avascular necrosis of the capital femoral epiphysis, Cryptorchidis... |
OMIM:613990 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... |
ORPHA:465508 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Retinal dystrophy, Megaloblastic anemia, Optic atrophy, Thrombocytopenia |
ORPHA:49827 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Toe syndactyly, Sandal gap, Camptodactyly of finger, Cachexia, Down-sloping ... |
ORPHA:85293 |
Babesiosis |
|
Hemolytic anemia, Splenomegaly, Thrombocytopenia, Leukopenia, Clinodactyly of the 5th toe |
ORPHA:108 |
Cernunnos-Xlf Deficiency |
|
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... |
ORPHA:169079 |
Beta-Thalassemia |
|
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thro... |
ORPHA:848 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Cataract, Thrombocytopenia, Reticuloc... |
ORPHA:508542 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Corneal opacity, Rocker bottom foot, Micromelia, Micrognathia, Asplenia, Cry... |
ORPHA:99776 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Patent ductus arteriosus, Orofacial cleft, Hypoplastic labia majora, Retinal... |
ORPHA:2328 |
Trisomy 18 |
|
Microcornea, Iris coloboma, Bilateral single transverse palmar creases, Microretrognathia, Crypto... |
ORPHA:3380 |
Myh9-Related Disease |
|
Increased mean platelet volume, Giant platelets, Neutrophil inclusion bodies, Menorrhagia, Presen... |
ORPHA:182050 |
Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Hypoplasia of the maxilla, Elevated circulating thyroid-stimulating hormone concent... |
OMIM:601812 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Cataract, Failure to thrive in infancy, Microcytic anemia |
OMIM:618805 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Optic atrophy, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia |
ORPHA:79312 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Sclerocornea, Micro... |
ORPHA:3472 |
Microphthalmia, Syndromic 6 |
|
Small scrotum, Anophthalmia, Single transverse palmar crease, Sclerocornea, Micrognathia, Adrenal... |
OMIM:607932 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Anophthalmia, Failure of eruption of permanent teeth, External genital hypop... |
ORPHA:2250 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Macroglossia, Microphthalmia, Retinal dystrophy, Developmental cataract |
OMIM:613155 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Failure to thrive in infancy,... |
ORPHA:261323 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
Meckel Syndrome |
|
Anophthalmia, Sclerocornea, Micrognathia, Asplenia, Microcornea, Accessory spleen, Abnormal chori... |
ORPHA:564 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Weight loss, Acute leukemia, Abnormal opti... |
ORPHA:3226 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Persis... |
ORPHA:93325 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Optic disc pallor, Sandal gap, Long philtrum |
OMIM:300887 |
Pelvis-Shoulder Dysplasia |
|
Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic ilia, Optic disc coloboma, Hypoplas... |
OMIM:169550 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Small scrotum, Conical tooth, Abnormality of the dentition, Cryptorchidism, Hypogonadism, Microph... |
ORPHA:228390 |
Fraser Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Small scrotum, Hypospadias, Anophthalmia, Dental crowding... |
ORPHA:2052 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
Immunodeficiency 32B |
|
Sinusitis, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, ... |
OMIM:226990 |
Mucopolysaccharidosis-Plus Syndrome |
|
Thrombocytopenia, Splenomegaly, Metaphyseal widening, Optic atrophy, Clubbing, Patent ductus arte... |
OMIM:617303 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Failure to thrive, Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thr... |
OMIM:614700 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Decreased response to growt... |
ORPHA:811 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Cataract, Micrognathia, Tapered finger, ... |
OMIM:620005 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Impotence, Thrombocytopenia |
OMIM:615750 |
Pseudo-Torch Syndrome 1 |
|
Microretrognathia, Cataract, Cleft lip, Splenomegaly, Patent ductus arteriosus, High palate, Opac... |
OMIM:251290 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, ... |
OMIM:303600 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Short metacarpal, Cataract, Splenomegaly, Hammertoe, Abnorma... |
ORPHA:773 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Dental crowding, Decreased serum leptin, Micrognathia, Limited elbow movement,... |
OMIM:614008 |
Gapo Syndrome |
|
Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea |
ORPHA:2067 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
Senior-Loken Syndrome 9 |
|
Retinal dystrophy, Hypoplasia of the femoral head, Obesity, Macular degeneration, Hypogonadism, P... |
OMIM:616629 |
Beemer-Ertbruggen Syndrome |
|
Micrognathia, Cryptorchidism, Deep philtrum, Ambiguous genitalia, Thrombocytopenia |
ORPHA:1237 |
Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Dental crowding, Arachnodactyly, Proximal placement of thumb, Throm... |
OMIM:620370 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Failure to thrive, Redu... |
OMIM:616050 |
Cherubism |
|
Jaw swelling, Macular scar, Optic neuropathy, Dental malocclusion, Alveolar ridge overgrowth, Nar... |
OMIM:118400 |
Duane-Radial Ray Syndrome |
|
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Upper lim... |
OMIM:607323 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Metrorrhagia, Thrombocytopenia, Leukocytosis, Gingival overgrowth, Weight loss, Leu... |
ORPHA:520 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Dental malocclusion, Diaphyseal sclerosis, Hepatosplenomegaly, Opti... |
OMIM:259730 |
Bleeding Disorder, Platelet-Type, 21 |
|
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired ... |
OMIM:617443 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th... |
ORPHA:163966 |
Williams Syndrome |
|
Hypoplasia of penis, Micrognathia, Microdontia, Clinodactyly of the 5th finger, Megalocornea, Hyp... |
ORPHA:904 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Cataract, Overlapping toe, Cleft lip, Deep philtrum, Cleft palate, Downturned ... |
OMIM:618571 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Hypospadias, Cataract, Single transverse palmar crease, 2-3 toe synda... |
OMIM:616449 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Cataract, Corneal opacity, Coloboma, Microphthalmia |
OMIM:613153 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Single transverse palmar crease, Intermittent thrombocytopenia, Cryptorchidism, Eryt... |
OMIM:612541 |
Diamond-Blackfan Anemia |
|
Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, High palate, Triphalangeal th... |
ORPHA:124 |
Icf Syndrome |
|
Abnormality of chromosome stability, Abnormality of neutrophils, Protruding tongue, Micrognathia,... |
ORPHA:2268 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Corneal opacity, Abnormality of canine, Apla... |
ORPHA:364577 |
Ruijs-Aalfs Syndrome |
|
Cataract, Single transverse palmar crease, Down-sloping shoulders, Micrognathia, Posterior subcap... |
OMIM:616200 |
Stromme Syndrome |
|
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Micrognathia, Preaxial polydact... |
OMIM:243605 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Hypoplastic iliac wing, Pteryg... |
OMIM:263650 |
Localized Scleroderma |
|
Abnormality of the dentition, Dental malocclusion, Abnormal facial skeleton morphology, Upper lim... |
ORPHA:90289 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Cataract, Contracture of the proximal interphalangeal joint of the 2nd finger, Decreased palmar c... |
OMIM:612394 |
Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Patellar hypoplasia, High palate, Neutropenia, Microdontia, Juvenile cataract, S... |
ORPHA:221016 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Stevenson-Carey Syndrome |
|
Pierre-Robin sequence, Downturned corners of mouth, Coloboma, Hip dysplasia, Narrow mouth, Microp... |
OMIM:611961 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
Transaldolase Deficiency |
|
Thrombocytopenia, Abnormality of the clitoris, Anemia, Hepatosplenomegaly |
ORPHA:101028 |
Subaortic Stenosis-Short Stature Syndrome |
|
Bilateral single transverse palmar creases, Micrognathia, Obesity, Type II diabetes mellitus, Mic... |
ORPHA:3191 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Retinal detachment, Finger syndactyly, Cataract, Abnormal chorioretina... |
ORPHA:464 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Retinal dysplasia |
OMIM:615771 |
Mogs-Cdg |
|
External genital hypoplasia, Optic atrophy, Retrognathia, Decreased circulating antibody level, H... |
ORPHA:79330 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Retinal dysplasia |
OMIM:614830 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Coloboma, Clinodactyly of the 5th finger, Microphthalmia, Conjunctival... |
OMIM:167730 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Pancytopenia, Thrombocytopenia, Decreased body weight |
OMIM:231000 |
Hartsfield Syndrome |
|
Non-midline cleft lip, Split hand, Cleft palate, Aplasia/Hypoplasia of the radius, Microphthalmia |
ORPHA:2117 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, S... |
ORPHA:1772 |
Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... |
ORPHA:2334 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
Spondylo-Ocular Syndrome |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Cataract, Thin vermilion border, Long philtru... |
ORPHA:85194 |
Oculodentodigital Dysplasia |
|
Cataract, Selective tooth agenesis, Cleft upper lip, Carious teeth, Cubitus valgus, Clinodactyly,... |
OMIM:164200 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Dyskeratosis Congenita |
|
Cataract, Diabetes mellitus, Abnormality of neutrophils, Abnormality of the dentition, Hypoplasia... |
ORPHA:1775 |
Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Leukopenia, Co... |
ORPHA:1328 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Cryptor... |
OMIM:139210 |
Frontorhiny |
|
Cataract, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft ... |
ORPHA:391474 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Cryptorchidism, Patent ductus arter... |
ORPHA:77298 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Thrombocytopenia, Weight loss, Agammaglobulinemia, Glossoptosis, Conjunctivitis, Neutr... |
ORPHA:47 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Optic atrophy, Decreased fertility, Hypoplasia of teeth, Microcornea, Keratoconjunctivitis sicca,... |
OMIM:234050 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Trichothiodystrophy |
|
High, narrow palate, Microcornea, Macular degeneration, Conjunctivitis, Neutropenia, Retinal dege... |
ORPHA:33364 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Narrow greater sciatic notch, Short palm, Exaggerated median tongue furrow... |
OMIM:312870 |
Immunodeficiency 10 |
|
Hypoplasia of the iris, Autoimmune hemolytic anemia, Thrombocytopenia, Amelogenesis imperfecta |
OMIM:612783 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Pancytopenia, Small for gestational age, Megaloblastic anemia, Thromboc... |
OMIM:277380 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Cataract, Micrognat... |
OMIM:236670 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... |
OMIM:308240 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Myhre Syndrome |
|
Mandibular prognathia, External genital hypoplasia, Hypoplasia of the maxilla, Epispadias, Short ... |
ORPHA:2588 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Small scrotum, Abnormal palmar dermatoglyphics, Cryptorchidism, Cleft palate, Hypoplasia of teeth... |
ORPHA:2728 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... |
ORPHA:35858 |
Revesz Syndrome |
|
Abnormality of chromosome stability, Aplastic anemia, Leukocoria, Exudative retinopathy, Bone mar... |
OMIM:268130 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand |
OMIM:608257 |
Hermansky-Pudlak Syndrome 2 |
|
Thin upper lip vermilion, Absent platelet dense granules, Reduced natural killer cell activity, C... |
OMIM:608233 |
Meckel Syndrome, Type 1 |
|
External genital hypoplasia, Adrenal hypoplasia, Micrognathia, Asplenia, Ambiguous genitalia, fem... |
OMIM:249000 |
Aicardi-Goutieres Syndrome 4 |
|
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610333 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Small scrotum, Abnormal dental morphology, Abnormal dental enamel morphology, ... |
ORPHA:3253 |
Tularemia |
|
Leukocytosis, Oral ulcer, Anemia, Increased circulating antibody level, Conjunctivitis, Conjuncti... |
ORPHA:3392 |
Mend Syndrome |
|
Cataract, Broad hallux, Overlapping fingers, Overlapping toe, Micrognathia, Asymmetry of the mout... |
ORPHA:401973 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Mevalonic Aciduria |
|
Optic disc pallor, Failure to thrive, Normocytic hypoplastic anemia, Failure to thrive in infancy... |
OMIM:610377 |
Farber Disease |
|
Corneal opacity, Abnormality of the hand, Thrombocytopenia, Short toe, Abnormality of the elbow, ... |
ORPHA:333 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Thin upper lip vermilion, Hyperextensibility of the finger joints, Hypospadias, Rocker ... |
ORPHA:163979 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Premature ovarian insufficie... |
OMIM:251260 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,... |
ORPHA:370959 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
Ivic Syndrome |
|
Aplastic clavicle, Preaxial hand polydactyly, Leukocytosis, Hypoplasia of the radius, Short thumb... |
ORPHA:2307 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure, High palate... |
OMIM:166250 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Increased body weight, Downturned corners of mouth, C... |
ORPHA:398069 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Retinal detachment, Cataract, Optic nerve hypoplasia |
OMIM:615181 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Long philtrum, Microphthalmia, O... |
OMIM:615145 |
Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Thrombocytopenia |
ORPHA:3327 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Micrognathia, Thrombocytopenia, Le... |
OMIM:259720 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... |
OMIM:604229 |
Holoprosencephaly |
|
Hypoplasia of penis, Anophthalmia, Abnormality of the spleen, Deep philtrum, Panhypopituitarism, ... |
ORPHA:2162 |
Joubert Syndrome 14 |
|
Tented upper lip vermilion, Morning glory anomaly, Postaxial polydactyly, Optic atrophy, Cleft pa... |
OMIM:614424 |
Pseudotrisomy 13 Syndrome |
|
Adrenal hypoplasia, Cleft upper lip, Cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndacty... |
OMIM:264480 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Peters anomaly, Microphthalmia, Broad thumb, Smooth philtrum, Br... |
OMIM:614526 |
Bardet-Biedl Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Cryptorchidism, Postaxial hand polydactyly, Obesity, Pigm... |
ORPHA:110 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Micrognathia, Coloboma, Abnormal optic disc morphology, Short palm, Clinod... |
ORPHA:508498 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Optic atrophy, Anemia, Neutropenia |
ORPHA:289916 |
Fetal Gaucher Disease |
|
Pancytopenia, Abnormality of the spleen, Splenomegaly, Stillbirth, High palate, Neonatal death, T... |
ORPHA:85212 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Splenom... |
OMIM:613011 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... |
OMIM:617021 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Abnormality of the dentition, Palmoplantar hyperkeratosis, Leukope... |
OMIM:613989 |
Prader-Willi Syndrome |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:739 |
Fryns Syndrome |
|
Tented upper lip vermilion, Hypospadias, Median cleft lip, Corneal opacity, Micrognathia, Cryptor... |
ORPHA:2059 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Hypoplasia of the maxilla, Bilateral microphthalmos, Coloboma, Clinoda... |
ORPHA:2399 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Dental crowding, Micrognathia, Cryptorchidism, Increased femo... |
OMIM:619005 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Toe syndactyly, Finger syndactyly, Cleft palate |
ORPHA:261272 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Exaggerated cupid's bow, Single transverse palmar crease, Cleft lip, Deep philtrum, 2-3 toe synda... |
OMIM:620098 |
Cyclic Neutropenia |
|
Premature loss of permanent teeth, Lymphopenia, Sinusitis, Cyclic neutropenia, Oral ulcer, Gingiv... |
ORPHA:2686 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Bone marrow hypocellularit... |
ORPHA:88 |
Fryns Syndrome |
|
Bifid scrotum, Tented upper lip vermilion, Single transverse palmar crease, Proximal placement of... |
OMIM:229850 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal... |
ORPHA:824 |
Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Cataract, Toe syndactyly, Toe clinodactyly, Cryptorchidi... |
ORPHA:2308 |
Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... |
ORPHA:1359 |
Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
Hermansky-Pudlak Syndrome 9 |
|
Abnormal platelet aggregation, Ocular albinism, Leukopenia, Hypopigmentation of the fundus, Throm... |
OMIM:614171 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Weight loss, Decreased circulating total IgM, Chromosomal breakage i... |
ORPHA:420741 |
Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of metacarpals, Hypopl... |
OMIM:300863 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... |
OMIM:269400 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, High palate, Hashimoto thyroid... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, High palate, Hashimoto thyroid... |
ORPHA:99228 |
Monosomy X |
|
Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, High palate, Hashimoto thyroid... |
ORPHA:99226 |
Turner Syndrome |
|
Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, High palate, Hashimoto thyroid... |
ORPHA:881 |
Idiopathic Uveal Effusion Syndrome |
|
Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph... |
ORPHA:209956 |
Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Cleft upper lip, Prominent m... |
OMIM:147250 |
Myoclonic-Astatic Epilepsy |
|
Thin upper lip vermilion, Syndactyly, Thick lower lip vermilion, Wide mouth, Long philtrum, Micro... |
ORPHA:1942 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Smooth philtrum, Increased mean platelet volume, Patent ductus arteriosus, Increased size of the ... |
OMIM:300048 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Micrognathia, Short philtrum, Abnormality of the uterus, Hypoplasia of ... |
ORPHA:567 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Coloboma, Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impaired ADP-in... |
OMIM:153670 |
Rhabdoid Tumor |
|
Thrombocytopenia, Anemia, Weight loss |
ORPHA:69077 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increased circulating IgE level, Coo... |
OMIM:304790 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
X-Linked Intellectual Disability, Seemanova Type |
|
Small for gestational age, Cryptorchidism, Developmental cataract, Hypogonadism, High palate, Ret... |
ORPHA:85323 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Hypospadias, Hypoplasia of the premaxilla, Adrenal hypoplasia, Micrognathia,... |
ORPHA:2166 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Azoospermia, Decreased mean corpuscular volume, Hypogonadism, Poikilocytosis, Hypoc... |
OMIM:615234 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, Coloboma, High palate, Phocomelia, Wrist flexion contracture, Hype... |
OMIM:268300 |
Trichothiodystrophy 1, Photosensitive |
|
Cataract, Small for gestational age, Retrognathia, Microcornea, Keratoconjunctivitis sicca, Hypog... |
OMIM:601675 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Failure to thrive, Dysgammaglobulinemia, Impaired Ig class switch recombination... |
OMIM:308230 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Oligodontia, Aplasia of the distal phalanx of the 5th f... |
OMIM:608670 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Absent thumb, Absent radius, Short tibia, Humeroradial synostosis, Clef... |
OMIM:251230 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Abnormality of the uterus, Chorioretinal coloboma, Triphalang... |
ORPHA:857 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Weight loss, Hepatosplenomegaly, Inc... |
ORPHA:98850 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Micrognathia, Abnormality of the dentition, Cryptorchidism, High, narrow palate, Sup... |
ORPHA:2108 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Optic atrophy, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:27 |
Immunodeficiency 97 With Autoinflammation |
|
Lymphopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, E... |
OMIM:619802 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:603909 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Abnormal dense granules, Thrombocytopenia, Splenomegal... |
OMIM:214500 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Carious teeth, Palmoplantar hyperkeratosis, Bone marrow hypocellul... |
OMIM:224230 |
Congenital Primary Aphakia |
|
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... |
ORPHA:83461 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Optic atrophy |
ORPHA:1528 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis... |
ORPHA:672 |
Poems Syndrome |
|
Papilledema, Diabetes mellitus, Abnormality of the endocrine system, Hypothyroidism, Metaphyseal ... |
ORPHA:2905 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Single transverse palmar crease, Micrognathia, Metaph... |
ORPHA:536471 |
Diamond-Blackfan Anemia 1 |
|
Micrognathia, Reticulocytopenia, High palate, Triphalangeal thumb, Neutropenia, Cleft upper lip, ... |
OMIM:105650 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Papilledema, Small for gestational age, Developmental cataract, Retinal calci... |
OMIM:127000 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Micrognathia, Persistence of primary ... |
ORPHA:2785 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Overlapping toe, Single transverse palmar crease, Micrognathia, Cryptor... |
OMIM:613884 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Diaphyseal dysplasia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
Osteopetrosis, Autosomal Recessive 4 |
|
Optic disc pallor, Reticulocytosis, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia |
OMIM:611490 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Papilledema, Delayed eruption of teeth, Hallux valgus, Dental crowding, Br... |
OMIM:614188 |
Joubert Syndrome 2 |
|
Retinal dystrophy, Postaxial hand polydactyly, Optic disc coloboma, Postaxial foot polydactyly, H... |
OMIM:608091 |
Faciocardiomelic Syndrome |
|
Micrognathia, Large for gestational age, Dental malocclusion, Wide mouth, Slender long bone, Poly... |
OMIM:612731 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Odontogenic keratocysts of the jaw, Ovarian fibroma, Cataract, Down-slopin... |
OMIM:109400 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Iris atrophy, Short metacarpal, Cleft upper lip, Optic atrophy, Cleft pala... |
OMIM:201180 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Failure to thrive, Thrombocytopenia |
OMIM:616577 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone mo... |
OMIM:302960 |
Prolidase Deficiency |
|
Micrognathia, Thrombocytopenia, Splenomegaly, High palate, Increased circulating antibody level, ... |
OMIM:170100 |
Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Non-midline cleft lip, Cleft palate, Microcornea, Limbal dermoid, Mic... |
ORPHA:1791 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Clitoral hypoplasia, Diabetes mellitus, Breast hypoplasia, Oligozoospermia |
OMIM:614813 |
Griscelli Syndrome |
|
Abnormality of neutrophils, Splenomegaly, Decreased circulating antibody level, Leukopenia, Bone ... |
ORPHA:381 |
Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... |
OMIM:139090 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Micropenis |
OMIM:308350 |
Felty Syndrome |
|
Sinusitis, Thrombocytopenia, Splenomegaly, Weight loss, Bone marrow hypocellularity, Neutropenia,... |
ORPHA:47612 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Micrognathia, Epispadias, Vitritis, Retinal ... |
ORPHA:2556 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Short palm, Thin upper lip vermilion, Small scrotum, Hypospadias, Micrognathia, Carious teeth, Cr... |
OMIM:616734 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Cataract, Large f... |
ORPHA:77301 |
Pediatric-Onset Graves Disease |
|
Keratitis, Splenomegaly, Thyrotoxicosis with diffuse goiter, Increased circulating free T3, Puber... |
ORPHA:525731 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cataract, Rhizomelia, Micrognathia, Trismus, Brachioradialis areflexia, Leukopenia, Neutropenia, ... |
OMIM:616271 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Rod-cone dystrophy, Optic atrophy, Thrombocytopenia, Long philtrum |
OMIM:617710 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Micrognathia, Pos... |
OMIM:619879 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Prolactinoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... |
ORPHA:2965 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Sinusitis, Thrombocytopenia, Splenomegaly, Finger swelling, Increased circulat... |
OMIM:617591 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Small for gestational age, Micrognathia, Nephrogenic diabetes insipidus, Hip dysplasia, Failure t... |
OMIM:208085 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Failure to thrive, Thrombocytopenia |
OMIM:619644 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Anophthalmia, Aplastic clavicle, Abnormality of the humerus, A... |
ORPHA:2538 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Thrombocytopenia, Autoimmune hemolytic anemia, Recurrent sinusitis, Decreased circulating antibod... |
OMIM:616576 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Decreased circulating antibody level... |
ORPHA:90045 |
Cog4-Cdg |
|
Failure to thrive in infancy, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Micrognathia, Cryptorchidism, Hypoplasia of the radius, Hip dislocation, Microcorne... |
ORPHA:3412 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Hypospadias, Single transverse palmar crease, Sclerocornea, Ovotestis, Cleft palate, Hy... |
OMIM:309801 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Hypospa... |
OMIM:206900 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Decreased response to growth hormone stimulation test, Anteri... |
OMIM:619004 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Micrognathia, Swollen lip, Calcaneovalgus deformity, Neonatal death, Pterygium, Finge... |
OMIM:256520 |
Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Abnormal spleen morphology, Abnormality of the uterus, Microphthalm... |
ORPHA:2470 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Splenomegaly, Hypoplasia of the iris, Hypocalcification of dental enamel, Throm... |
ORPHA:169090 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Bowing of the long bones, Retinal telangiectasia, Metaphyseal sclerosis, Thrombocytopenia, Optic ... |
OMIM:612199 |
Propionic Acidemia |
|
Pancytopenia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia |
OMIM:606054 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphopenia, Failure to thrive, Abnormal T cell count, Abnormal B cell count, Autoimmune hemolyti... |
ORPHA:331206 |
Norrie Disease |
|
Sclerocornea, Abnormal pupil morphology, Hypoplasia of the iris, Uterine rupture, Aplasia/Hypopla... |
ORPHA:649 |
Curry-Jones Syndrome |
|
Duplication of thumb phalanx, Lip pit, Preaxial hand polydactyly, 2-3 finger syndactyly, Preaxial... |
OMIM:601707 |
Galloway-Mowat Syndrome 1 |
|
Cataract, Small for gestational age, Micrognathia, Optic atrophy, Hypoplasia of the iris, Wide mo... |
OMIM:251300 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Ocular albi... |
ORPHA:1352 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Phthisis bulbi, Leukocoria, R... |
OMIM:221900 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... |
OMIM:615113 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Hypospadias, Micrognathia, Cryptorchidism, Cleft lip, Patent ductus arteriosus, Optic... |
OMIM:616975 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypothyroidism, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Azoospermia, Decrease... |
ORPHA:300298 |
Gaucher Disease, Type I |
|
Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Erlenmeyer flask deformity of... |
OMIM:230800 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Bloom Syndrome |
|
Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Oligozoospermia, Azoospermia |
ORPHA:125 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm... |
ORPHA:86839 |
Quebec Platelet Disorder |
|
Menorrhagia, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocellularity, Recurr... |
OMIM:301078 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Delayed eruption of teeth, Cataract, Eosinophilia, C... |
OMIM:308300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... |
OMIM:614643 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Microcytic anemia, Elevated circulating thyroid-stimulating hormone concentration, Increased circ... |
OMIM:256040 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Abnormally large globe, Coloboma, Microphthalmia, Retinal degeneration |
OMIM:615249 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal pelvis bone morphology, Metrorrhagia, Abnormal humerus morp... |
ORPHA:464329 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Carious teeth, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean co... |
OMIM:127550 |
Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
Charge Syndrome |
|
Anophthalmia, External genital hypoplasia, Decreased response to growth hormone stimulation test,... |
OMIM:214800 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Goiter |
OMIM:274240 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Optic atrophy, Pigmentary retinopathy, Hypogonadism, Microphthalmia |
OMIM:610651 |
Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, High, narrow ... |
OMIM:613406 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Met... |
OMIM:272950 |
H Syndrome |
|
Hallux valgus, Histiocytosis, Diabetes mellitus, Cleft upper lip, Microcytic anemia, Gingival ove... |
ORPHA:168569 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, High palate, Clinodactyly of the 5th finger, Short tib... |
OMIM:268305 |
Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Menorrhagia, Thrombocytopenia |
OMIM:277480 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Bone marrow hypocellularity, Failure to thrive, ... |
ORPHA:3322 |
Sea-Blue Histiocytosis |
|
Splenomegaly, Retinopathy, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Prominence of the premaxilla, Cleft uppe... |
ORPHA:50 |
Say-Barber-Miller Syndrome |
|
Elbow flexion contracture, Micrognathia, Carious teeth, Cryptorchidism, Rod-cone dystrophy, Trans... |
ORPHA:3132 |
Methylmalonic Aciduria, Cblb Type |
|
Pancytopenia, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase activity, Failure to thrive... |
OMIM:251110 |
Charge Syndrome |
|
Bifid scrotum, Anophthalmia, Abnormal tibia morphology, Chorioretinal coloboma, Clinodactyly of t... |
ORPHA:138 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Septate vagina, Micrognathia, Hamartoma of tongue, Cleft lip, Short tibia, Postaxial... |
OMIM:617925 |
Gaucher Disease, Perinatal Lethal |
|
Decreased body weight, Everted upper lip vermilion, Micrognathia, Thrombocytopenia, Splenomegaly,... |
OMIM:608013 |
Tufted Angioma |
|
Anemia, Thrombocytopenia, Hemangioma of the lip |
ORPHA:1063 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Lip pit, Tapered finger, Broad thumb, Hypodontia,... |
ORPHA:1236 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Cataract, Hypospadias, Phimosis, Carious teeth, Cryptorchid... |
OMIM:305000 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Delay... |
OMIM:619269 |
Proboscis Lateralis |
|
Anophthalmia, External genital hypoplasia, Orofacial cleft, Abnormality of the maxillary sinus, M... |
ORPHA:141099 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pancytopenia, Diabetes mellitus, Anemia, Leukopenia, Failure to thrive, Thrombocytopenia |
OMIM:613845 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, High, narrow palate, Small... |
ORPHA:2714 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Metaphyseal widening, High palate, Metaphyseal irregularity, Neutropenia, Fail... |
OMIM:617941 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Recurrent aphthous stomatit... |
OMIM:150550 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Single transverse palmar crease, Micrognathia, Widely spaced teeth, High p... |
OMIM:612474 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Narrow mouth, Optic nerve hypoplasia, Decreased body weight |
OMIM:614833 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Cataract, Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Microcornea, Epip... |
ORPHA:35173 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, External genital hypoplasia, Epispadias, High, narrow palate, Abnormal fin... |
ORPHA:2658 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Optic nerve hypoplasia, Broad proximal phalanges of the hand, Cleft upper lip, High, narrow palat... |
OMIM:607597 |
Meckel Syndrome, Type 5 |
|
Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Postaxial fo... |
OMIM:611561 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Bone marrow hypocellularity, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:210136 |
Boutonneuse Fever |
|
Abnormal skin morphology of the palm, Increased circulating IgG level, Increased circulating IgM ... |
ORPHA:83313 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... |
OMIM:606895 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thin upper lip vermilion, Natal tooth, Thyroid hypoplasia, Aplasia of the thymus, Single transver... |
OMIM:620186 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormality of body weight, Increased circulating IgA level, Enlarged polycysti... |
ORPHA:2298 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Cataract, Hypospadias, Macrodontia, Phimosis, Mi... |
OMIM:309500 |
Degcags Syndrome |
|
Micrognathia, Leukopenia, Iron deficiency anemia, High palate, Syndactyly, Hypospadias, Congenita... |
OMIM:619488 |
Cholesteryl Ester Storage Disease |
|
Adrenal calcification, Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Hep... |
OMIM:278000 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Abnormality of chromosome stability, Cachexia, Dee... |
ORPHA:647 |
Holocarboxylase Synthetase Deficiency |
|
Keratoconjunctivitis, Thrombocytopenia, Weight loss |
ORPHA:79242 |
X-Linked Acrogigantism |
|
Increased body mass index, Abnormal optic chiasm morphology, Decreased thyroid-stimulating hormon... |
ORPHA:300373 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Micrognathia, Long fingers, Cleft palate, Microcornea, High palate, Narrow mouth, Microphthalmia,... |
OMIM:156610 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Immunodeficiency 22 |
|
Failure to thrive, Thrombocytopenia, Retinal vasculitis, Decreased circulating total IgM, Decreas... |
OMIM:615758 |
Papillorenal Syndrome |
|
Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op... |
OMIM:120330 |
Snakebite Envenomation |
|
Hypopituitarism, Gingival bleeding, Thrombocytopenia |
ORPHA:449285 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... |
OMIM:217300 |
Williams-Beuren Syndrome |
|
Hallux valgus, Diabetes mellitus, Failure to thrive in infancy, Down-sloping shoulders, Retinal a... |
OMIM:194050 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Abnormality of the dentition, Microcornea, Keratoconju... |
ORPHA:1806 |
Overlap Myositis |
|
Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Diabetes me... |
ORPHA:206572 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Megaloblastic anemia, Thrombocytopenia, Pigmentary retinopathy, Neutropenia, Decreased methylmalo... |
OMIM:277400 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:398124 |
Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase activity, Failure to thrive... |
OMIM:251100 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Thrombocytopenia, Abnormal... |
ORPHA:79124 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Scapular winging, Micrognathia, Dental malocclusion, Localized hypoplasia of dental enamel, Clino... |
ORPHA:73223 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Anemia,... |
ORPHA:100026 |
Heart And Brain Malformation Syndrome |
|
Camptodactyly of finger, Cleft lip, High, narrow palate, Thick lower lip vermilion, Everted lower... |
OMIM:616920 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... |
OMIM:601399 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Lens coloboma, Downturned corners of mouth, Microcornea,... |
OMIM:619539 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate |
OMIM:600776 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis of the small joints of the hand, Arachnodactyly, Protrusio acetabuli, Camptodactyl... |
ORPHA:284984 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Thrombocytopenia, Patent ductus arteriosus, Optic atrophy, H... |
ORPHA:505248 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Failure to thrive, Thrombocytopenia, Neutropenia |
OMIM:251000 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Corneal arcus, Stomatocytosis, ... |
OMIM:210250 |
Bardet-Biedl Syndrome 12 |
|
Postaxial hand polydactyly, Hydrometrocolpos, Obesity, Postaxial foot polydactyly, Hypogonadism, ... |
OMIM:615989 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Anemia, Weight loss |
ORPHA:90060 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Small scrotum, Micrognathia, High, narrow palate, Oligodontia, Microdontia... |
OMIM:612289 |
Immune Thrombocytopenia |
|
Gingival bleeding, Thrombocytopenia |
ORPHA:3002 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Failure to thrive, Absent circulating B cells |
OMIM:619693 |
Monosomy 9P |
|
Hypospadias, Proximal placement of thumb, Micrognathia, Abnormality of the dentition, Cryptorchid... |
ORPHA:261112 |
Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Postaxial hand polydactyly, Cleft palate, Polydactyly, Microphthalmia |
OMIM:603194 |
Rodrigues Blindness |
|
Microcornea, Microphthalmia, Tooth malposition, Sclerocornea |
OMIM:268320 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Mandibular prognathia, Dental crowding, Cleft hard palate, Asplenia, Abnormal pupi... |
ORPHA:261552 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Mandibular prognathia, Dental crowding, Cleft hard palate, Asplenia, Calcaneovalgu... |
ORPHA:2152 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Retinal colobo... |
OMIM:184705 |
Gaucher Disease Type 1 |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Increased circulating an... |
ORPHA:77259 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Mandibular prognathia, Dental crowding, Cleft hard palate, Asplenia, Calcaneovalgu... |
ORPHA:261537 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Hypopituitarism, Anterior pituitary hypoplasia, Postaxial polydactyl... |
OMIM:615849 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Tapered finger, Splenomegaly, Gingival overgrowth, Alveolar ridge over... |
OMIM:301072 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Smooth philtrum, Macular coloboma, Megaloblastic anemia, Thrombocytopenia, Optic atrophy, Pigment... |
ORPHA:79282 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Sinusitis, Abnormal eosinophil morphology, Abnormality of the menstrual cycle, ... |
ORPHA:906 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Corneal erosion, Developmental cataract, Anterior lenticonus, Lenticonus, Thr... |
OMIM:301050 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Thrombocytopenia, Leukopenia |
OMIM:152700 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Microretrognathia, Optic disc pallor, 2-5 finger syndactyly, Hypospadias, Optic nerve hypoplasia,... |
ORPHA:468631 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Abnormality of retinal pigmentation, Pancytopenia, Thrombocytopeni... |
ORPHA:167 |
Ogden Syndrome |
|
Congenital hip dislocation, Maternal diabetes, Micrognathia, Deep philtrum, Iron deficiency anemi... |
OMIM:300855 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Single transverse palmar crease, Anemia, High palate, Talipes equinovarus, Open mouth, Thrombocyt... |
OMIM:619743 |
Aicardi Syndrome |
|
Retinal detachment, Prominence of the premaxilla, Cataract, Proximal placement of thumb, Cleft up... |
OMIM:304050 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Pancytopenia, Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly, Hepatosplenom... |
OMIM:603553 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Papilledema, Pancytopenia, Corneal opacity, Cachexia, Abnormality of the spleen, T... |
ORPHA:2072 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior... |
ORPHA:2526 |
Relapsing Fever |
|
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:91547 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Orofacial cl... |
OMIM:309800 |
Mosaic Variegated Aneuploidy Syndrome |
|
Cataract, Corneal opacity, Vaginal neoplasm, Micrognathia, Cleft palate, Acute lymphoblastic leuk... |
ORPHA:1052 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Micrognathia, Clinodactyly of the 5... |
ORPHA:1587 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Defective DNA repair after ultraviolet radiation damage, Keratoconjunctiviti... |
OMIM:278730 |
Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
Stevens-Johnson Syndrome |
|
Dyspareunia, Abnormality of neutrophils, Thrombocytopenia, Corneal erosion, Weight loss, Conjunct... |
ORPHA:36426 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
Monosomy 22Q13.3 |
|
Dental crowding, Dental malocclusion, Obesity, Large hands, Clinodactyly of the 5th finger, Malar... |
ORPHA:48652 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland, Cleft palate, Cleft upper lip |
OMIM:614402 |
Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Micrognathia, Non-midline cleft lip, Cleft palate, Microdontia, Microph... |
ORPHA:1915 |
Pearson Syndrome |
|
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Cataract, Small for gestational age, Decreased... |
ORPHA:699 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
Galloway-Mowat Syndrome 3 |
|
Arachnodactyly, Micrognathia, Hip dislocation, High palate, Narrow mouth, Microphthalmia, Failure... |
OMIM:617729 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Small for gestational age, Refractory sideroblastic anemia, T... |
OMIM:557000 |
Loeys-Dietz Syndrome 3 |
|
Cataract, Arachnodactyly, Protrusio acetabuli, Patent ductus arteriosus, Cystocele, Dental malocc... |
OMIM:613795 |
Brucellosis |
|
Small for gestational age, Orchitis, Hypersplenism, Leukocytosis, Epididymitis, Thrombocytopenia,... |
ORPHA:1304 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Normochromic anemia, Small for gestational age, Thrombocytopenia |
OMIM:618775 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:611038 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Cataract, Carious teeth, Splenomegaly, Ret... |
ORPHA:90324 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu... |
OMIM:609049 |
Mycophenolate Mofetil Embryopathy |
|
Micrognathia, Orofacial cleft, Foot polydactyly, Chorioretinal coloboma, Short palm, Microphthalm... |
ORPHA:268249 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Thrombocytopenia, Short philtrum, Hypoplastic spleen, Anemia |
OMIM:185070 |
Encephalocraniocutaneous Lipomatosis |
|
Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Limbal dermoid, Microphthalmia |
OMIM:613001 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Wrist swelling, Cryptorchidism, Hip dislocation, Corneal scarring, Devel... |
OMIM:309000 |
Frontonasal Dysplasia 2 |
|
Conical tooth, Bilateral cryptorchidism, Widely spaced teeth, Microphthalmia, Broad philtrum |
OMIM:613451 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Reduced natural killer cell activity, Splenomegaly, Decreased circulating antibody level, Anemia,... |
ORPHA:540 |
Dengue Fever |
|
Leukopenia, Gingival bleeding, Thrombocytopenia |
ORPHA:99828 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Abnormality of the hum... |
ORPHA:3186 |
Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia, Cataract |
ORPHA:454831 |
Cat Eye Syndrome |
|
Micrognathia, Absent radius, Patent ductus arteriosus, Cleft palate, Chorioretinal coloboma, Micr... |
OMIM:115470 |
Portal Hypertension, Noncirrhotic, 2 |
|
Splenomegaly, Thrombocytopenia |
OMIM:619463 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Absent outer dynein arms |
OMIM:244400 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Failure to thrive, Thrombocytopenia |
OMIM:267700 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Bilateral microphthalmos, M... |
OMIM:601186 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:292 |
Tetraamelia Syndrome 1 |
|
Cataract, Hypoplasia of the fallopian tube, Micrognathia, Absent external genitalia, Cleft upper ... |
OMIM:273395 |
Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Necrotizing Enterocolitis |
|
Leukocytosis, Small for gestational age, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
Meckel Syndrome, Type 4 |
|
Microphthalmia, Bowing of the long bones, Postaxial hand polydactyly, Cleft palate |
OMIM:611134 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Small scrotum, Tented upper lip vermilion, Micrognathia, Clinodactyly, Widely-spaced maxillary ce... |
OMIM:309580 |
Good Syndrome |
|
Abnormal leukocyte morphology, Sinusitis, Diabetes mellitus, Thymoma, Decreased circulating antib... |
ORPHA:169105 |
Macrophage Activation Syndrome |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... |
ORPHA:158061 |
Hepatoportal Sclerosis |
|
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:64743 |
Drug-Induced Lupus Erythematosus |
|
Thrombocytopenia, Anemia |
ORPHA:231111 |
Pediatric Systemic Lupus Erythematosus |
|
Oral ulcer, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia |
ORPHA:93552 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... |
OMIM:300106 |
Sepsis In Premature Infants |
|
Small for gestational age, Thrombocytopenia, Leukocytosis, Splenomegaly, Neutropenia, Decreased b... |
ORPHA:90051 |
Pseudo-Torch Syndrome 2 |
|
Patent ductus arteriosus, Thrombocytopenia |
OMIM:617397 |
Aicardi-Goutieres Syndrome 1 |
|
Splenomegaly, Hypothyroidism, Diabetes insipidus, Thrombocytopenia |
OMIM:225750 |
Toxic Epidermal Necrolysis |
|
Corneal erosion, Weight loss, Anemia, Conjunctivitis, Neutropenia, Abnormal vagina morphology, Th... |
ORPHA:537 |
Letterer-Siwe Disease |
|
Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocytopenia |
OMIM:246400 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Microphthalmia, Vaginal atresia, Optic nerve hypoplasia |
OMIM:617914 |
Digeorge Syndrome |
|
Impaired T cell function, Sclerocornea, Micrognathia, High, narrow palate, Parathyroid hypoplasia... |
OMIM:188400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Cataract, Micrognathia, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the ... |
OMIM:253280 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Thin upper lip vermilion, Rod-cone dystrophy, High palate, Thrombocytopenia |
ORPHA:572798 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Frontonasal Dysplasia 3 |
|
Microphthalmia, Cleft palate |
OMIM:613456 |
Rift Valley Fever |
|
Retinitis, Thrombocytopenia, Retinal hemorrhage, Macular edema, Retinal vasculitis, Increased cir... |
ORPHA:319251 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia, Delayed eruption of primary teeth, Sclerocornea, Microphthalmia, Fail... |
OMIM:300952 |
Phace Association |
|
Optic nerve hypoplasia, Patent ductus arteriosus, Optic atrophy, Developmental cataract, Congenit... |
OMIM:606519 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Clinoda... |
OMIM:113620 |
X-Linked Intellectual Disability, Snyder Type |
|
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias |
ORPHA:3063 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Median cleft lip, Hypospadias, Bifid uterus, Micrognathia, Preaxial hand polyda... |
OMIM:236680 |
Avian Influenza |
|
Leukopenia, Lymphopenia, Conjunctivitis, Thrombocytopenia |
ORPHA:454836 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Cleft upper lip, Peters anomaly, Cleft palate, Buphthalmos, Macroglossia, Persistent pu... |
OMIM:613150 |
8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Congenital hip dislocation, Single transverse palmar crease, Microme... |
ORPHA:508488 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Cataract, Optic atrophy, Retinal dysplasia, Microphthalmia |
OMIM:253800 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Splenomegaly, Failure to thrive, Thrombocytopenia, Hepatocellular necrosis |
OMIM:251880 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Cataract, Retinal dystrophy |
OMIM:616538 |
Acquired Purpura Fulminans |
|
Thrombocytopenia |
ORPHA:49566 |
Bernard-Soulier Syndrome |
|
Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Menorrhagia, Gin... |
ORPHA:274 |
Gaucher Disease, Type Ii |
|
Splenomegaly, Trismus, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:230900 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
Fraser Syndrome 2 |
|
Cutaneous syndactyly, Hypoplasia of the thymus, Narrow mouth, Ambiguous genitalia, Microphthalmia |
OMIM:617666 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, High palate, Single transverse palmar crease |
OMIM:619053 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Failure to thrive, Thrombocytopenia |
ORPHA:99901 |
Cystinosis, Nephropathic |
|
Male infertility, Diabetes mellitus, Failure to thrive in infancy, Retinal pigment epithelial mot... |
OMIM:219800 |
Immunodeficiency 40 |
|
T lymphocytopenia, Reduced antigen-specific T cell proliferation, Thrombocytopenia |
OMIM:616433 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Retinal calcificatio... |
OMIM:259770 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria, Cleft palate |
OMIM:257910 |
Catastrophic Antiphospholipid Syndrome |
|
Retinal arterial occlusion, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, ... |
ORPHA:464343 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Splenomegaly, Decreased circulating antibody level, Decrease... |
OMIM:300972 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cataract, Camptodactyly of finger, Hypoplasia of the maxilla, Cleft palate, Finger clinodactyly, ... |
ORPHA:306542 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Retrognathia, Thrombocytopenia |
ORPHA:457351 |
Histiocytoid Cardiomyopathy |
|
Corneal opacity, Optic atrophy, Cleft palate, Polycystic ovaries, Microphthalmia, Megalocornea, F... |
ORPHA:137675 |
Tetrasomy 9P |
|
Absent gallbladder, Cryptorchidism, Oligozoospermia, Infertility, Micropenis |
ORPHA:3310 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Swelling of proximal interphalangeal joints, Eosinophilia, Thrombocytopenia, Leukoc... |
ORPHA:3260 |
Shigellosis |
|
Failure to thrive in infancy, Leukocytosis, Conjunctivitis, Microangiopathic hemolytic anemia, Sp... |
ORPHA:810 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Erythrodontia, Splenomegaly, Corneal scarring, Conjunctivitis, Joint contractur... |
OMIM:263700 |
Lymphedema-Distichiasis Syndrome |
|
Cleft upper lip, Micrognathia, Patent ductus arteriosus, Cleft palate, Conjunctivitis, Recurrent ... |
OMIM:153400 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Delayed eruption of teeth, Cataract, Hypospadias, Cryptorchidism, Patent ductus ar... |
OMIM:235730 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Increased circulating IgA level, Thyroiditis, Weight loss, Enla... |
ORPHA:79078 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Increased circulating myelocyte count, Abnormality of the upper limb, Increased circul... |
ORPHA:36234 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia |
OMIM:614946 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia |
OMIM:611126 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Osteolysis involving bones of the upper limbs, Retinal hemorrhage, Osteolysis in... |
ORPHA:464321 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Lymphopenia, Increased circulating antibody level, Thrombocytopenia |
ORPHA:319218 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Lymphopenia, Thrombocytopenia, Thyroiditis, Decreased circulating antibody lev... |
ORPHA:289390 |
Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Gaucher Disease |
|
Pancytopenia, Corneal opacity, Thrombocytopenia, Splenomegaly, Anemia, Increased circulating anti... |
ORPHA:355 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Thrombocytopenia |
ORPHA:3240 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Bilateral cleft lip, Bila... |
OMIM:610828 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrine system, Ne... |
ORPHA:391487 |
Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Neutrophilia, Orchitis, Thrombocytopenia, Leukocytosis, Epididymitis, Splenomegaly,... |
ORPHA:99827 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:274150 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612926 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Frontofacionasal Dysplasia |
|
Cataract, Cleft upper lip, Orofacial cleft, Microcornea, Microphthalmia, Iris coloboma, Malar fla... |
OMIM:229400 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612925 |
Q Fever |
|
Splenomegaly, Hepatosplenomegaly, Anemia, Weight loss, Increased circulating antibody level, Thro... |
ORPHA:781 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:235400 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... |
ORPHA:158048 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Erythrodontia, Anisocytosis, Splenomegaly, Keratoconjunctiviti... |
ORPHA:79277 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Hypothyroidism, Lens coloboma, Retinal vascular m... |
ORPHA:42775 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Increased body weight, Mic... |
ORPHA:244242 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, ... |
OMIM:175780 |
Hardikar Syndrome |
|
Decreased serum insulin-like growth factor 1, Cleft soft palate, Hypersplenism, Splenomegaly, Pat... |
OMIM:301068 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Splenomegaly, Weight loss, Anemia, Increased circulating antibody... |
OMIM:615846 |
Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
Vexas Syndrome |
|
Macrocytic anemia, Thrombocytopenia |
OMIM:301054 |
Castleman Disease |
|
Decreased mean corpuscular volume, Thrombocytopenia, Anemia, Weight loss |
ORPHA:160 |
Lujo Hemorrhagic Fever |
|
Leukopenia, Leukocytosis, Lymphopenia, Thrombocytopenia |
ORPHA:319213 |
Lysinuric Protein Intolerance |
|
Thrombocytopenia, Splenomegaly, Truncal obesity, Leukopenia, Hemophagocytosis, Failure to thrive,... |
OMIM:222700 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Hypopl... |
ORPHA:3464 |
Sarcoidosis |
|
Hemolytic anemia, Cataract, Hyperthyroidism, Eosinophilia, Diabetes insipidus, Abnormal reproduct... |
ORPHA:797 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Aplasia of the premaxilla, Adrenal hypoplasia, Diabetes ... |
OMIM:157170 |
Wilson Disease |
|
Hypoparathyroidism, Hemolytic anemia, Splenomegaly, Anemia, Kayser-Fleischer ring, Thrombocytopenia |
OMIM:277900 |
Gaucher Disease Type 3 |
|
Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Delayed puberty, Thromb... |
ORPHA:77261 |
Tick-Borne Encephalitis |
|
Leukocytosis, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Tongu... |
ORPHA:297 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia |
OMIM:253270 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Micrognathia, Thrombocytopenia, Supernumerary tooth, Splenomegaly, Type I diab... |
OMIM:619525 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... |
ORPHA:447 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Adams-Oliver Syndrome 1 |
|
Toe syndactyly, Cleft upper lip, Cleft palate, Talipes equinovarus, Microphthalmia, Imperforate h... |
OMIM:100300 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Failure to thrive, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Cheilitis, Oral ulcer, Abnormal pigmentation of the oral mucosa, Leukopenia, Re... |
ORPHA:536 |
Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Orchitis, Neutrophilia in presence of infection, Leukopenia, Increa... |
ORPHA:99826 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... |
OMIM:313900 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia, Vaginal atresia |
OMIM:248450 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
Kikuchi-Fujimoto Disease |
|
Thrombocytopenia, Splenomegaly, Oral ulcer, Weight loss, Enlargement of parotid gland, Leukopenia... |
ORPHA:50918 |
Liver Disease, Severe Congenital |
|
Hypospadias, Micrognathia, Splenomegaly, Abnormal circulating thyroid hormone concentration, Pate... |
OMIM:619991 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:90038 |
Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Thrombocytopenia, Hepatosplenomegaly, Decr... |
ORPHA:470 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
Neuroleptic Malignant Syndrome |
|
Thrombocytosis, Leukocytosis, Thrombocytopenia |
ORPHA:94093 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Cleft palate, Wide mou... |
OMIM:154500 |
Tangier Disease |
|
Thrombocytopenia, Corneal opacity, Anemia, Hepatosplenomegaly |
ORPHA:31150 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Cystic Fibrosis |
|
Male infertility, Hepatosplenomegaly, Clubbing of fingers, Failure to thrive, Chronic sinusitis |
OMIM:219700 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Thrombocytopenia |
OMIM:254900 |
Hemorrhagic Fever-Renal Syndrome |
|
Thrombocytopenia, Leukocytosis, Anemia, Decreased body weight |
ORPHA:340 |
Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Developmental glaucoma, Chronic lymphati... |
ORPHA:51 |
Caroli Syndrome |
|
Hypersplenism, Conjunctival icterus, Leukocytosis, Leukopenia, Thrombocytopenia |
ORPHA:480520 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:2612 |
Alström Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious... |
ORPHA:64 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Leukocytosis, Diabetes mellitus, Thrombocytopenia |
ORPHA:544482 |
Leptospirosis |
|
Papilledema, Retinal hemorrhage, Chorioretinitis, Optic neuritis, Macular cotton wool spot, Conju... |
ORPHA:509 |
Holoprosencephaly 1 |
|
Adrenal hypoplasia, Micropenis, Microphthalmia, Cyclopia, Diabetes insipidus, Median cleft lip an... |
OMIM:236100 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased serum insulin-like growth factor 1, Autoimmune thrombocytopenia, Hypersplenism, Splenom... |
ORPHA:77293 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Acute Liver Failure |
|
Hepatic necrosis, Hepatocellular necrosis, Adrenal insufficiency, Hepatic periportal necrosis, Th... |
ORPHA:90062 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Autosomal Recessive Polycystic Kidney Disease |
|
Micrognathia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia |
ORPHA:731 |
Craniofacial Microsomia 1 |
|
Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Limbal dermoid, Partial d... |
OMIM:164210 |
Isolated Arrhinia |
|
Microphthalmia, Hypoplasia of the nasal bone |
ORPHA:1134 |
Yellow Fever |
|
Increased circulating IgM level, Leukocytosis, Neutrophilia, Thrombocytopenia |
ORPHA:99829 |
Exercise-Induced Malignant Hyperthermia |
|
Thrombocytopenia |
ORPHA:466650 |