Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:619831 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 25 |
|
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Epicanthus, Sparse eyelashes, Bilateral clef... |
OMIM:616788 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... |
OMIM:616030 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome |
|
Decreased testicular size |
ORPHA:436144 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... |
OMIM:614897 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Trimethylaminuria |
|
Splenomegaly, Depression, Anemia, Neutropenia |
OMIM:602079 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Cryptorchidism, Non-midline cleft lip, Ankyloblepharon, Cleft palate, Tooth agenesis |
ORPHA:1074 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... |
OMIM:614842 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Isochromosomy Yq |
|
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Abnormality of the dentition, Primary amenor... |
OMIM:300604 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614840 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Miscarriage, Female infertility |
OMIM:619176 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size, Ptosis |
ORPHA:1875 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... |
OMIM:614839 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:300510 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Hyperprolactinemia |
|
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration |
OMIM:615555 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Epicanthus, Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing horm... |
OMIM:619761 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased circulat... |
ORPHA:453533 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Miscarriage, Abnormality of the menstrual cycle, Decreased fertility ... |
ORPHA:137686 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... |
OMIM:617565 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
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 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... |
OMIM:618078 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... |
ORPHA:432 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... |
OMIM:301059 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Cleft palate, Secondar... |
OMIM:615300 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Müllerian Aplasia And Hyperandrogenism |
|
Synophrys, Cleft palate, Primary amenorrhea, Hypoplasia of the uterus, Short philtrum, Increased ... |
ORPHA:247768 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Elsahy-Waters Syndrome |
|
Bifid scrotum, Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Synoph... |
OMIM:211380 |
Ovarian Dysgenesis 5 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:617690 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Short philtrum, Decreased serum estradiol, Streak ovary, Premature ovarian insufficiency, Duplica... |
ORPHA:572333 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Cleft upper lip, Micrognathia, Cleft palate, Hypoplasia of the uterus, Azoospermia, Bicornuate ut... |
OMIM:601076 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau... |
ORPHA:3352 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cleft upper... |
OMIM:610829 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Ptosis, Telecanthus, Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, ... |
OMIM:110100 |
Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Fused labia minora, Micrognathia, Ambiguous genitalia, female, Prim... |
ORPHA:2975 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles, Primary amenorrhea, Ambiguous genitalia, Cl... |
OMIM:264270 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Leukopenia, Irritability, Neutropenia, Thrombocytopenia |
OMIM:229050 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia |
OMIM:615285 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Telecanthus, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Synophry... |
ORPHA:364577 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... |
OMIM:273250 |
Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Micrognathia, Cryptorchidism, Cleft palate, Bicornuate uterus, Neonatal d... |
OMIM:615524 |
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 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Telecanthus, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveola... |
ORPHA:2751 |
Mohr Syndrome |
|
Telecanthus, Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, ... |
OMIM:252100 |
Chand Syndrome |
|
Cleft palate, Agenesis of permanent teeth, Ankyloblepharon, Abnormal oral frenulum morphology, Ag... |
ORPHA:1401 |
Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spa... |
OMIM:601349 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Epicanthus, Cryptorchidism, Cleft palate, Thin vermilion border, Long eyelashes, Narrow mouth, In... |
OMIM:615502 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Congenital Varicella Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:291 |
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 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Micrognathia, Agonadism, Cleft palate, Sex reversal, Hypoplasia o... |
OMIM:154230 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Upslanted palpebral fissure, Decreased testicul... |
ORPHA:93950 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Sparse or absent eyelashes, Hypoplasia ... |
ORPHA:3130 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Cyclopia, Proptosis, Hypertelorism |
ORPHA:2165 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cleft upper lip, Cryptorchidism, Lower li... |
OMIM:119500 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... |
OMIM:300602 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion, Macroorchidism... |
ORPHA:1193 |
Arthrogryposis, Distal, Type 1C |
|
Pursed lips, Cryptorchidism, Cleft lip, Cleft palate, Thin vermilion border, High palate, Narrow ... |
OMIM:619110 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... |
OMIM:612965 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:607080 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Hooded eyelid, Anterior pituitary hypoplasia, Micrognathia, Synophrys, Sho... |
OMIM:619841 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
W Syndrome |
|
Telecanthus, Submucous cleft hard palate, Agenesis of maxillary central incisor, Broad uvula, Dow... |
ORPHA:2804 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Orbital encephalocele, Anophthalmia |
OMIM:164180 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... |
ORPHA:2228 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypospadias, Diastema, Cryptorchidism, Supernumerary tooth, Agenes... |
OMIM:619718 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... |
OMIM:615363 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Bicornuate uterus, Bifid uvula, Cleft palate |
OMIM:258320 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... |
ORPHA:206484 |
46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
Fetal Akinesia Deformation Sequence 4 |
|
Micrognathia, Cryptorchidism, High palate, Prenatal death, Neonatal death, Retrognathia |
OMIM:618393 |
Fetal Akinesia Deformation Sequence 2 |
|
Tented upper lip vermilion, Micrognathia, Cryptorchidism, Cleft palate, High palate, Downslanted ... |
OMIM:618388 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Mandibular aplasia, Hypoplasia of penis, Cyclopia |
ORPHA:990 |
Gordon Syndrome |
|
Cryptorchidism, High palate, Cleft palate |
ORPHA:376 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... |
OMIM:146110 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Filippi Syndrome |
|
Cryptorchidism, Thin vermilion border, Short philtrum, Hypodontia, Ambiguous genitalia, Microdont... |
OMIM:272440 |
Mosaic Trisomy 14 |
|
Hypoplasia of penis, Hypospadias, Micrognathia, Cryptorchidism, Cleft palate, Wide mouth, Ectopic... |
ORPHA:1703 |
Solitary Median Maxillary Central Incisor |
|
Cyclopia, Decreased response to growth hormone stimulation test, Hypotelorism, Coloboma, Anterior... |
OMIM:147250 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of penis, Hypospadias, Hypoplasia of the premaxilla, Micrognathia, Cryp... |
ORPHA:2166 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... |
OMIM:202150 |
Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
Seckel Syndrome 5 |
|
Hypospadias, Selective tooth agenesis, Micrognathia, Cryptorchidism, Cleft palate, Oligodontia, H... |
OMIM:613823 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... |
OMIM:619938 |
Gordon Holmes Syndrome |
|
Hypogonadotropic hypogonadism, Secondary amenorrhea, Absence of pubertal development, Primary ame... |
OMIM:212840 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Bloom Syndrome |
|
Decreased fertility in females, Cryptorchidism, Agenesis of maxillary lateral incisor, Azoospermi... |
OMIM:210900 |
8Q22.1 Microdeletion Syndrome |
|
Telecanthus, Sparse eyelashes, Highly arched eyebrow, Abnormality of the dentition, Hypoplasia of... |
ORPHA:178303 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... |
OMIM:619755 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
Hydatidiform Mole |
|
Hyperthyroidism, Miscarriage, Menometrorrhagia, Enlarged uterus |
ORPHA:99927 |
Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries, Ect... |
ORPHA:1643 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Microphthalmia, Occipital encephalocele, Anophthalmia |
OMIM:613885 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... |
ORPHA:99429 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Ptosis, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:616570 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cryptorchidism, Cleft lip, Hypogonadotropic hypogonadism, Cleft palate |
OMIM:612370 |
Cornelia De Lange Syndrome 5 |
|
Telecanthus, Highly arched eyebrow, Micrognathia, Cryptorchidism, Synophrys, Cleft palate, Downtu... |
OMIM:300882 |
Joubert Syndrome 26 |
|
Decreased response to growth hormone stimulation test, Cleft lip, Cleft palate, Central hypothyro... |
OMIM:616784 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Zimmermann-Laband Syndrome |
|
Telecanthus, Abnormal external genitalia, Micrognathia, Supernumerary tooth, Gingival fibromatosi... |
ORPHA:3473 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... |
ORPHA:314478 |
17Q11.2 Microduplication Syndrome |
|
Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Thin vermilion border, Macro... |
ORPHA:139474 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypospadias, Selective tooth agenesis, Supernumerary nipple, Conical tooth, Cleft upper lip, Hypo... |
OMIM:106260 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Abnormal T cell morphology |
OMIM:613502 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Rubinstein-Taybi Syndrome 2 |
|
Epicanthus, Intestinal malrotation, Highly arched eyebrow, Micrognathia, Carious teeth, Talon cus... |
OMIM:613684 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Ptosis, Epicanthus, Cleft upper lip, Abnormality of the dentition, Cry... |
ORPHA:915 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
48,Xxyy Syndrome |
|
Delayed eruption of teeth, Broad jaw, Hypoplasia of penis, Epicanthus, Hypergonadotropic hypogona... |
ORPHA:10 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
Cleft Palate-Lateral Synechia Syndrome |
|
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Blepharophimosis, Oral syn... |
ORPHA:2016 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Highly arched e... |
OMIM:615866 |
Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Distal Deletion 10P |
|
Hypoplasia of penis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Cleft palate, Polycysti... |
ORPHA:1580 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla, Cryptorchidism, High palate, Decreased testicular size |
ORPHA:85279 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
X-Linked Intellectual Disability, Abidi Type |
|
Non-midline cleft lip, Decreased testicular size, Cleft palate |
ORPHA:85273 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cyclopia, Cryptorchidism, Hypotelorism, Bicornuate uterus, Micropenis |
OMIM:264480 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:609054 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
Ovarian Dysgenesis 10 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Cleft palate, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased te... |
OMIM:614880 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size |
OMIM:614962 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Cleft lip, Primary amenorrhea, High palate, Small ... |
OMIM:612702 |
Microform Holoprosencephaly |
|
Hypoplasia of penis, Hypotelorism, Ambiguous genitalia, Cyclopia, Panhypopituitarism, Iris coloboma |
ORPHA:280200 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... |
ORPHA:280356 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... |
ORPHA:3464 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Blepharonasofacial Malformation Syndrome |
|
Epicanthus, Telecanthus, Abnormal eyelash morphology, Cryptorchidism, Non-midline cleft lip, Clef... |
ORPHA:1252 |
Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... |
OMIM:611548 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Hydrocele testis, Notched primary central incisor |
OMIM:620062 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
49,Xxxyy Syndrome |
|
Mandibular prognathia, Decreased serum testosterone concentration, Epicanthus, External genital h... |
ORPHA:261534 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... |
OMIM:278850 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Cleft upper lip, Bilateral cryptorchidism, Crypto... |
OMIM:305400 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... |
OMIM:613986 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Cryptorchidism, Synophrys, Downturned corners of mouth, Wide mouth, Wid... |
OMIM:618067 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
Lujan-Fryns Syndrome |
|
Dental crowding, Abnormality of the dentition, Micrognathia, Hypoplasia of the maxilla, High pala... |
ORPHA:776 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... |
ORPHA:3411 |
Premature Ovarian Failure 8 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea |
OMIM:184700 |
Trisomy 18 |
|
Microretrognathia, Spina bifida, Hypertelorism, Cryptorchidism, Anencephaly, Cyclopia, Abnormal m... |
ORPHA:3380 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Ovarian Dysgenesis 1 |
|
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233300 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... |
OMIM:202010 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism |
OMIM:614851 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Anal stenosis, Telecanthus, Hypospadias, Hypoplasia of the maxilla, Crypto... |
OMIM:601499 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Synophrys, Upslanted palpebra... |
OMIM:300143 |
Holoprosencephaly 3 |
|
Malar flattening, Cyclopia, Proptosis, Hypotelorism |
OMIM:142945 |
Acrodysostosis |
|
Delayed eruption of teeth, Mandibular prognathia, Epicanthus, Open bite, Cryptorchidism, Hypoplas... |
ORPHA:950 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Short lingual frenulum, Bilobate gallbladder, Micrognathia, Hypoplasia ... |
OMIM:261540 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hy... |
ORPHA:2495 |
Holoprosencephaly |
|
Encephalocele, Hypoplasia of penis, Cyclopia, Hypertelorism, Cryptorchidism, Spinal dysraphism, H... |
ORPHA:2162 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Amenorrhea, Malabsorption |
OMIM:600705 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Nephrogenic diabetes insipidus, Supernumerary tooth, Hypoplasia of t... |
ORPHA:3145 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Cowden Syndrome 5 |
|
Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Furro... |
OMIM:615108 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Spars... |
ORPHA:3353 |
Hemochromatosis, Type 3 |
|
Lymphopenia, Anemia, Neutropenia |
OMIM:604250 |
Placental Site Trophoblastic Tumor |
|
Miscarriage, Metrorrhagia, Amenorrhea |
ORPHA:99928 |
Myhre Syndrome |
|
Mandibular prognathia, External genital hypoplasia, Hypoplasia of the maxilla, Epispadias, Bifid ... |
ORPHA:2588 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Secondary amenorrhea, Polycysti... |
ORPHA:3085 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Depression, Emotional lability, Neutropeni... |
ORPHA:101096 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Infertility, Oligomenorrhea |
OMIM:604931 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
16P13.11 Microdeletion Syndrome |
|
Cryptorchidism, Cyclopia |
ORPHA:261236 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Meckel Syndrome 12 |
|
Micrognathia, Antecubital pterygium, Hypoplasia of the uterus, Vaginal atresia, Bifid uvula |
OMIM:616258 |
Ovarian Fibroma |
|
Gonadal calcification, Odontogenic keratocysts of the jaw, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
Pituicytoma |
|
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... |
ORPHA:251623 |
Renpenning Syndrome |
|
Mandibular prognathia, Epicanthus, Diabetes mellitus, Hypospadias, Macrodontia, High, narrow pala... |
ORPHA:3242 |
Cowden Syndrome 6 |
|
Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Furro... |
OMIM:615109 |
Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
2Q32Q33 Microdeletion Syndrome |
|
Dental crowding, Micrognathia, Cleft palate, Oligodontia, Thin vermilion border, High palate, Nar... |
ORPHA:251019 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Cryptorchidism, Narrow palate, Short upper lip, Eversion of lateral third ... |
ORPHA:364028 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cleft lip, Cleft palate, Micropenis, Decreased testicular size |
OMIM:614838 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anorexia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:79312 |
Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... |
OMIM:618096 |
46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cleft upper lip, Cryptorchidism, Cleft palate, Primary amenorrhea,... |
OMIM:244200 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Epicanthus, Highly arched eyebrow, Supernumerary tooth, Submucous cleft hard palate, Thick lower ... |
OMIM:617412 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Upper eyelid coloboma, Cleft pa... |
OMIM:619736 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia |
OMIM:607676 |
Letterer-Siwe Disease |
|
Hepatosplenomegaly, Anemia, Irritability, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, Microdontia, Bifid uvula, Hypospadias, Cleft upper lip,... |
OMIM:129400 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Lowry-Maclean Syndrome |
|
Hypospadias, Delayed eruption of primary teeth, Micrognathia, Bilateral cryptorchidism, High, nar... |
ORPHA:2409 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
6Q25 Microdeletion Syndrome |
|
Epicanthus, External genital hypoplasia, Micrognathia, Cleft palate, Upslanted palpebral fissure,... |
ORPHA:251056 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Sparse eyelashes, Unilateral cryptorchidism, Micrognathia, Cleft palate, Downslanted palpebral fi... |
OMIM:300946 |
Anophthalmia Plus Syndrome |
|
Anophthalmia, Spina bifida |
ORPHA:1104 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Telecanthus, Adrenal hypoplasia |
OMIM:619151 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Abruzzo-Erickson Syndrome |
|
Epicanthus, Hypospadias, Cryptorchidism, Coronal hypospadias, Cleft palate, Malar flattening, Abn... |
ORPHA:921 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bifid scrotum, Death in infancy, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism... |
OMIM:300219 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cleft upper lip, Cryptorchidism, Cleft palate, Primary amenorrhea,... |
OMIM:147950 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... |
OMIM:300068 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ... |
OMIM:619220 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... |
ORPHA:478 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Decreased circulating renin level, Isosexual precocious pub... |
ORPHA:90795 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele |
ORPHA:1528 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Downturned corners of mouth, ... |
OMIM:618729 |
Burkitt Lymphoma |
|
Neoplasm of the oral cavity, Intestinal obstruction, Abnormality of the ovary |
ORPHA:543 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Proptosis |
ORPHA:2776 |
Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, External genital hypoplasia, Hypertelorism, Abnormal paranasal... |
ORPHA:141099 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
Bangstad Syndrome |
|
Abnormality of the dentition, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ... |
ORPHA:1227 |
Nablus Mask-Like Facial Syndrome |
|
Thin upper lip vermilion, Telecanthus, Sparse eyelashes, Highly arched eyebrow, Abnormality of th... |
OMIM:608156 |
46,Xx Sex Reversal 4 |
|
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... |
OMIM:617480 |
Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus, Death in infancy |
OMIM:268650 |
48,Xxxy Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of penis, Small scrotum, Epicanthus,... |
ORPHA:96263 |
Immunodeficiency 7 |
|
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia |
OMIM:615387 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of ... |
OMIM:610628 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... |
OMIM:618986 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Distal Monosomy 7Q36 |
|
Hypoplasia of penis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Cleft palate, Wide mout... |
ORPHA:1636 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Barber-Say Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,... |
OMIM:209885 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increa... |
ORPHA:98850 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Thin upper lip vermilion, Thick eyebrow, Hypoplasia of the maxilla, Synophrys, Upslanted palpebra... |
OMIM:618737 |
Temple Syndrome |
|
Maturity-onset diabetes of the young, Micrognathia, Precocious puberty, Cryptorchidism, Cleft pal... |
OMIM:616222 |
Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Micrognathia, Epispadias, Abnormality of the gingiva, High, narrow palate, D... |
ORPHA:3107 |
Rothmund-Thomson Syndrome, Type 2 |
|
Delayed eruption of teeth, Mandibular prognathia, Absent eyebrow, Epicanthus, Sparse eyelashes, M... |
OMIM:268400 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... |
OMIM:619705 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
Persistent Müllerian Duct Syndrome |
|
Cryptorchidism, Male pseudohermaphroditism |
ORPHA:2856 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Hypoplasia of the maxilla, Cryptorchidism, Cleft palate, High palate, Narrow m... |
ORPHA:1307 |
Polyembryoma |
|
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... |
ORPHA:180229 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Epicanthus, Elevated circulating luteinizing hormone level, Highly arched eyebrow, Sparse eyebrow... |
OMIM:618419 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Maturity-onset diabetes of the young, Micrognathia, Precocious puberty, Cryptorchidism, Pyloric s... |
ORPHA:96184 |
Cowden Syndrome 1 |
|
Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Furro... |
OMIM:158350 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia |
OMIM:617475 |
Hemochromatosis, Type 2A |
|
Azoospermia, Hypogonadotropic hypogonadism, Infertility, Amenorrhea |
OMIM:602390 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb... |
OMIM:308240 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Hypospadias, Abnormal dental enamel morphology, ... |
ORPHA:439822 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Anemia, Neutropenia |
ORPHA:289916 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Eyelid... |
ORPHA:861 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Axenfeld-Rieger Syndrome |
|
Anal stenosis, Telecanthus, Hypospadias, Hypoplasia of the maxilla, Everted lower lip vermilion, ... |
ORPHA:782 |
49,Xxxxy Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of penis, Small scrotum, Epicanthus,... |
ORPHA:96264 |
Intellectual Disability, Birk-Barel Type |
|
Tented upper lip vermilion, Highly arched eyebrow, Micrognathia, High, narrow palate, Incisor mac... |
ORPHA:166108 |
Omodysplasia 2 |
|
Dyspareunia, Tented upper lip vermilion, Hypospadias, Bilateral cleft lip, Micrognathia, Cryptorc... |
OMIM:164745 |
Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia, Intrauterine growth retardation |
ORPHA:3378 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Bifid scrotum, Thin upper lip vermilion, Small scrotum, Lip pit, Micrognathia, Cryptorchidism, No... |
ORPHA:1300 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Intrauterine growth retardation |
ORPHA:2470 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia |
OMIM:617056 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Telecanthus, Crowded maxillary incisors, Hypoplasia of the maxilla, Blepha... |
ORPHA:397973 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia, Anencephaly |
ORPHA:2189 |
Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:609441 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Micrognathia, Cleft upper lip, Cleft palate, Gonadal dysgenesis, male |
OMIM:231060 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... |
ORPHA:243 |
Acrofacial Dysostosis, Palagonia Type |
|
Sparse eyelashes, Micrognathia, Abnormal eyelid morphology, High, narrow palate, Supernumerary to... |
ORPHA:1787 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the uterus, Streak ovary, ... |
ORPHA:2232 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:616171 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele |
ORPHA:324416 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corner... |
ORPHA:1507 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Trisomy 8Q |
|
Hypoplasia of penis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Orofacial cleft, Cleft ... |
ORPHA:1752 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Tooth agenesis, High palate, Hypogonadotropic hypogonadism, Cleft palate |
ORPHA:1135 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormal eyebrow morphology, Diabetes mellitus, Abnormal nasolacrimal system morphology, Abnormal... |
ORPHA:3220 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Thin upper lip vermilion, Thick eyebrow, Micrognathia, Diastema, Cryptorch... |
OMIM:300534 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Congenital Disorder Of Glycosylation, Type 2V |
|
Thin upper lip vermilion, Epicanthus, Cleft palate, Hydrocele testis, Narrow palpebral fissure, T... |
OMIM:619493 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Micrognathia, Cryptorchidism, Male pseudohermaphroditism, Non-midline cleft lip, Cle... |
ORPHA:2075 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra... |
OMIM:301078 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal prolactin level, Azoospermia, Abnormal circulating testosterone concen... |
OMIM:615842 |
Cohen Syndrome |
|
Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Micrognathia, Crypto... |
ORPHA:193 |
Cat-Eye Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:195 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Epicanthus, Decreased response to growth hormone stimulation test, Gra... |
ORPHA:2980 |
Prolactinoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... |
ORPHA:2965 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Miscarriage, Cleft upper lip, Cleft palate, Hydrocele testis, Increased serum testosterone level,... |
ORPHA:96181 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
Congenital Generalized Lipodystrophy |
|
Mandibular prognathia, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in... |
ORPHA:528 |
Ohdo Syndrome, Sbbys Variant |
|
Thin upper lip vermilion, Hypospadias, Micrognathia, Blepharophimosis, Cryptorchidism, Cleft pala... |
OMIM:603736 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Elevated circulating luteinizing hormone level, Hypoplasia of the maxilla,... |
ORPHA:3044 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Pierre-Robin sequence, A... |
OMIM:268305 |
Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Intestinal malrotation, Highly arched eyebrow, Micrognathia, Cryptorchi... |
ORPHA:404440 |
Bartsocas-Papas Syndrome |
|
Median cleft lip, Micrognathia, Cleft palate, Ankyloblepharon, Sparse or absent eyelashes, Hypopl... |
ORPHA:1234 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Irritability, Neutropenia |
OMIM:275350 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Epicanthus, Median cleft lip, Telecanthus, Hamartoma of tongue, Cleft upper li... |
OMIM:311200 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... |
ORPHA:347 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Hypoplasia of the... |
ORPHA:228396 |
Cofs Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1466 |
Lymphatic Malformation 10 |
|
Hydrocele testis |
OMIM:619369 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Delayed eruption of teeth, Mandibular prognathia, Epicanthus, Hypoplasia of the maxilla, Cryptorc... |
OMIM:101800 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... |
ORPHA:98754 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:739 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Small scrotum, Blepharophimosis, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Widely spaced... |
ORPHA:2728 |
Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea |
OMIM:616946 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
Limb-Mammary Syndrome |
|
Absent lacrimal punctum, Absent nipple, Chronic irritative conjunctivitis, Cleft hard palate, Cle... |
ORPHA:69085 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of... |
OMIM:616367 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Immunodeficiency 102 |
|
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... |
OMIM:301082 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Irritability, Dysphagia, Neutropenia |
OMIM:618253 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Thin upper lip vermilion, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Deep philtrum... |
OMIM:309520 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... |
ORPHA:177901 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Nager Syndrome |
|
Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip, Lower eye... |
ORPHA:245 |
Non-Syndromic Posterior Hypospadias |
|
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Ventral shortening of foreski... |
ORPHA:95706 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth |
OMIM:246560 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, External genital hypoplasia, Cryptorchidism, Rectal atresia, Neona... |
OMIM:613390 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Aplasia of the premaxilla, Hypotelorism, Proptosis, Chor... |
OMIM:157170 |
Van Maldergem Syndrome 2 |
|
Bifid scrotum, Irregular dentition, Epicanthus, Tented upper lip vermilion, Hypospadias, Microgna... |
OMIM:615546 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... |
ORPHA:98793 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Lacrimal duct atresia, Narrow mouth, Blepharophimosis, Downslanted pal... |
ORPHA:1529 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Cleft lip... |
OMIM:603457 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus, Micrognathia |
OMIM:266810 |
Ovarian Dysgenesis 8 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Dec... |
OMIM:618187 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Open bite, Hypoplasia of the maxilla, Cleft palate, Tooth agenesis, Microd... |
ORPHA:1248 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... |
OMIM:158330 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... |
ORPHA:177904 |
Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy, Oral leukoplakia |
OMIM:618165 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Anorexia, Leukocytosis, Anemia, Leukopenia, Addictive alcohol use, Neutropenia, Thr... |
ORPHA:520 |
Akt2-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... |
ORPHA:79085 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
20P12.3 Microdeletion Syndrome |
|
Epicanthus, Hypoplasia of the maxilla, Narrow mouth, Malar flattening, Downslanted palpebral fiss... |
ORPHA:261295 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Irritability, Neutropenia, Thro... |
ORPHA:292 |
Microphthalmia, Syndromic 9 |
|
Micrognathia, Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus, Neonatal death, Blepha... |
OMIM:601186 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Absent eyebrow, Supernumerary nipple, Absent eyelashes, Irregular menstruation, Retrognathia |
ORPHA:1809 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:601859 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Hypoplasia of the maxilla, Sparse eyebr... |
OMIM:167730 |
Luscan-Lumish Syndrome |
|
Mandibular prognathia, Irregular menstruation, Polycystic ovaries, Malar flattening, Downslanted ... |
OMIM:616831 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Tyshchenko Syndrome |
|
Supernumerary nipple, Cryptorchidism, High, narrow palate, Narrow palate, Cleft palate, High pala... |
OMIM:615102 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Bifid uterus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Telecanthus, Sparse eyelashes, Abnormality of the dentition, Micrognathia, Cryptorch... |
ORPHA:2108 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Epicanthus, Telecanthus, Dental crowding, Sparse eyelashes, Micrognath... |
OMIM:257850 |
Cohen Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Hypoplasia of the maxilla, H... |
OMIM:216550 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Cleft palate, Maxillozygomatic hypoplasia, Up... |
ORPHA:1790 |
Meier-Gorlin Syndrome 4 |
|
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Thick lower lip vermilion, Narrow mouth,... |
OMIM:613804 |
Hypoplasminogenemia |
|
Cervicitis, Duodenal ulcer, Gingival overgrowth, Gingivitis, Periodontitis, Abnormal fallopian tu... |
ORPHA:722 |
Pituitary Stalk Interruption Syndrome |
|
Death in infancy, Hypoplasia of penis, Ectopic posterior pituitary, Adrenal hypoplasia, Cryptorch... |
ORPHA:95496 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... |
OMIM:304790 |
Pituitary Gigantism |
|
Mandibular prognathia, Elevated circulating growth hormone concentration, Amenorrhea, Increased c... |
ORPHA:99725 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Sparse eyelashes, Selective tooth agenesis, Micrognathia, Sparse eyebrow, Cryptorchi... |
OMIM:234100 |
Hartsfield Syndrome |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation |
ORPHA:2117 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Cicatricial lagophthalmos, Ank... |
OMIM:263650 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Narrow palpebral fissure, Synophrys, Broad eyebrow |
OMIM:618302 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Cyclopia, Iris coloboma, Hypotelorism |
ORPHA:3186 |
Verloove Vanhorick-Brubakk Syndrome |
|
Micrognathia, Cryptorchidism, Abnormality of the parathyroid gland, Non-midline cleft lip, Cleft ... |
ORPHA:3429 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... |
ORPHA:91354 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Epicanthus, Abnormality of the philtrum, Non-midline cleft lip, Cleft palate, Polycystic ovaries,... |
ORPHA:1770 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Compulsive behaviors, Reduction of neutrophil motility |
OMIM:266265 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Epicanthus, Abnormal dental enamel morphology, Supernumerary nipple, Abnorma... |
ORPHA:1812 |
1Q41Q42 Microdeletion Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Upslan... |
ORPHA:250999 |
Frontonasal Dysplasia 1 |
|
Epicanthus, Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Widely-spac... |
OMIM:136760 |
Seckel Syndrome 1 |
|
Hypospadias, Selective tooth agenesis, Dental crowding, Micrognathia, Cryptorchidism, Dental malo... |
OMIM:210600 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... |
ORPHA:572 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia |
OMIM:619752 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Intestinal malrotation |
OMIM:601163 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Hypospadias, Dysmenorrhea, Micrognathia, Cryptorchidism, Cleft palate, Abnormality... |
ORPHA:397590 |
Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Crouzon Syndrome |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, High palate, Conjunctivitis, S... |
OMIM:123500 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypoplasia of penis, Small scrotum, Multiple pterygia, Micrognathia, Abnormal eyelid morphology, ... |
ORPHA:2990 |
Arthrogryposis, Distal, Type 3 |
|
Epicanthus, Micrognathia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, High palate,... |
OMIM:114300 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Primary amenorrhea, Pol... |
OMIM:604367 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Carious teeth, Absent eyelashes, Cleft palate, Everted lower lip vermilion, Hypog... |
ORPHA:2316 |
Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:300511 |
Joubert Syndrome 22 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:615665 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Micro... |
OMIM:616331 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, A... |
ORPHA:1772 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Bilateral cryptorchidism, Macrodontia of permanent maxillary central incisor, Retrognathia, Ptosis |
ORPHA:466722 |
Frasier Syndrome |
|
Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea, Ovarian gonadoblastoma |
OMIM:136680 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cleft upper lip, Cryptorchidism, Clef... |
OMIM:615849 |
Cockayne Syndrome Type 2 |
|
Intrauterine growth retardation, Anophthalmia |
ORPHA:90322 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... |
OMIM:129900 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Micrognathia, Sparse eyebrow, Hydrocele testis, Narrow mouth, Neonatal death, Micropenis |
OMIM:618810 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... |
OMIM:604292 |
Martsolf Syndrome 1 |
|
Epicanthus, Hypogonadotropic hypogonadism, Micrognathia, Hypoplasia of the maxilla, Cryptorchidis... |
OMIM:212720 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Anteriorly placed anus, Downturned c... |
ORPHA:1299 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... |
OMIM:601216 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... |
ORPHA:562 |
Postaxial Acrofacial Dysostosis |
|
Supernumerary nipple, Cleft upper lip, Conical tooth, Cryptorchidism, Pyloric stenosis, Midgut ma... |
OMIM:263750 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Submucous cleft hard palate, Thick vermi... |
OMIM:613805 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:398124 |
Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Hypospadias, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Epispa... |
ORPHA:2554 |
Carpenter Syndrome 1 |
|
Epicanthus, Telecanthus, External genital hypoplasia, Persistence of primary teeth, Precocious pu... |
OMIM:201000 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Highly arched eyebrow, Micrognathia, Lagophthalmos, Cleft palate, Furrowed tongue... |
OMIM:615065 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Cryptorchidism, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border... |
OMIM:612938 |
Lig4 Syndrome |
|
Epicanthus, Cryptorchidism, Upslanted palpebral fissure, Chronic sinusitis, Type II diabetes mell... |
OMIM:606593 |
Tooth Agenesis, Selective, 3 |
|
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia |
OMIM:604625 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Dental crowding, Aganglionic megacolon, Nephrogenic diabetes insipidus, High, ... |
OMIM:209900 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Epicanthus, Small scrotum, Hypospadias, Micrognathia, Cryptorchidism, Cleft palate, Abnormality o... |
ORPHA:2505 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Epicanthus, Thyroid lymphangiectasia, Cryptorchidism, Rectal prolapse,... |
OMIM:235510 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Microphthalmia, Syndromic 1 |
|
Hypospadias, Dental crowding, Aganglionic megacolon, Cleft upper lip, Cryptorchidism, Rectal prol... |
OMIM:309800 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palat... |
ORPHA:95699 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... |
ORPHA:289548 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Highly arched eyebrow, Diastema, Deep philtrum, Talon cusp, Synophrys, Cleft palate, Microdontia |
OMIM:605282 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia |
OMIM:614868 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:48431 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Congenital Toxoplasmosis |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:858 |
Gapo Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Sparse eyelashes, Dysmenorrhea, Palpebral edema... |
ORPHA:2067 |
Propionic Acidemia |
|
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:606054 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Epicanthus, Telecanthus, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft ... |
ORPHA:79113 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Normochromic anemia, Thrombocytopenia, Neutropenia |
OMIM:614857 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Hypospadias, Highly arched eyebrow, Cleft upper lip, Cryptorchidism... |
OMIM:265050 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
Acrofrontofacionasal Dysostosis |
|
Bifid scrotum, Hypospadias, Non-midline cleft lip, Cleft palate, Eyelid coloboma, High palate, Ev... |
ORPHA:1784 |
Boucher-Neuhauser Syndrome |
|
Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism |
OMIM:215470 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Thin upper lip vermilion, Clitoral hypertrophy, Highly arched eyebrow, Sparse ... |
OMIM:619124 |
Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... |
ORPHA:435651 |
Hypomandibular Faciocranial Dysostosis |
|
Hypoplasia of the maxilla, Malar flattening, Optic disc coloboma, Micrognathia |
OMIM:241310 |
Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele |
OMIM:617255 |
Holoprosencephaly 13, X-Linked |
|
Cyclopia, Micrognathia |
OMIM:301043 |
Macrophage Activation Syndrome |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... |
ORPHA:158061 |
Moebius Syndrome |
|
Death in infancy, Epicanthus, Hypogonadotropic hypogonadism, Aplasia/Hypoplasia of the tongue, Mi... |
ORPHA:570 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Highly arched eyebrow, Micrognathia, Hypoplasia of the maxilla, Upslanted ... |
OMIM:620157 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Premature loss of teeth, Thin vermilion border, Short philtrum |
OMIM:156510 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Oral leukoplakia |
OMIM:613987 |
Trichorhinophalangeal Syndrome Type 2 |
|
Thin upper lip vermilion, Thick eyebrow, Abnormality of the dentition, Supernumerary tooth, Deep ... |
ORPHA:502 |
Keipert Syndrome |
|
Epicanthus, Tented upper lip vermilion, Exaggerated cupid's bow, Hypoplasia of the maxilla, Ptosis |
ORPHA:2662 |
3Mc Syndrome 3 |
|
Bifid scrotum, Highly arched eyebrow, Cleft upper lip, Cryptorchidism, Epicanthus inversus, Cleft... |
OMIM:248340 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Epicanthus, Exaggerated cupid's bow, Micrognathia, Cryptorchidism, Cleft palate, Downturned corne... |
OMIM:614230 |
Lead Poisoning |
|
Delayed eruption of teeth, Decreased female libido, Miscarriage, Abnormality of the menstrual cyc... |
ORPHA:330015 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Epicanthus, Tented upper lip vermilion, Hypospadias, Micrognathia, Hypoplasi... |
OMIM:601390 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Orofaciodigital Syndrome V |
|
Unilateral ptosis, Thin upper lip vermilion, Median cleft lip, Unilateral cryptorchidism, Agangli... |
OMIM:174300 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... |
ORPHA:2686 |
Intellectual Disability And Myopathy Syndrome |
|
Widely-spaced maxillary central incisors, Thin upper lip vermilion, Dental malocclusion, Incisor ... |
OMIM:619719 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Cleft soft palate, Lacrimal duct stenosis, Micrognathia, Cryptorchidism, ... |
OMIM:154500 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Abnormal eyebrow morphology, Esophageal stenosis, Diabetes mellitus, Ab... |
ORPHA:1775 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Hypospadias, Abnormal oral mucosa morphology, Abnormality of the denti... |
ORPHA:289 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micrognathia, Cryptorchidism, Narrow mouth, Neonatal death, Malar flattening, Pterygium |
OMIM:224410 |
Nance-Horan Syndrome |
|
Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor |
OMIM:302350 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... |
OMIM:226990 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Proptosis, Hypertelorism |
ORPHA:1540 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Neutropenia |
OMIM:620012 |
Lipe-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... |
ORPHA:435660 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Cleft palate, Hypoplasia of the uterus, Anteriorly placed anus, Chordee, ... |
OMIM:309801 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Small scrotum, Hypospadias, Micrognathia, Hypoplasia of the maxilla, Cryptorch... |
OMIM:613803 |
X-Linked Intellectual Disability, Snyder Type |
|
Mandibular prognathia, Unilateral ptosis, Dental crowding, Hypospadias, Sparse eyebrow, Cryptorch... |
ORPHA:3063 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Anteriorl... |
OMIM:201750 |
Congenital Factor Vii Deficiency |
|
Ovarian cyst, Menorrhagia, Gingival bleeding |
ORPHA:327 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:251000 |
Tricho-Retino-Dento-Digital Syndrome |
|
Oligodontia, Supernumerary tooth, Abnormality of the dentition |
ORPHA:1264 |
Meier-Gorlin Syndrome 1 |
|
Death in infancy, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Hypoplastic labia mino... |
OMIM:224690 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Occipital encephalocele, Anencephaly |
OMIM:611561 |
Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Abnormality of the dentition, Micrognathia, Sparse eyebrow, Supernumerary tooth... |
ORPHA:77258 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Distal Deletion 19P |
|
Vaginal hernia, Hypoplasia of the maxilla, Cleft palate, Short philtrum, Thick eyebrow |
ORPHA:96129 |
Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:899 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Thrombocytopenia, Anemia, Neutropenia |
ORPHA:47 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... |
ORPHA:1959 |
Barth Syndrome |
|
Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia |
OMIM:302060 |
Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Cryptorchidism, Dental malocclusion, Taurodontia, Macrodontia of permanent maxill... |
OMIM:616202 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:601809 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Thin upper lip vermilion, Dental crowding, Supernumerary tooth, Long philtrum, Smooth philtrum, S... |
OMIM:190351 |
Familial Afibrinogenemia |
|
Menometrorrhagia, Miscarriage, Gingival bleeding |
ORPHA:98880 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Anemia, Neutropenia |
OMIM:614520 |
Schwartz-Jampel Syndrome |
|
Pursed lips, Ptosis, Abnormal eyebrow morphology, Death in infancy, Long eyelashes in irregular r... |
ORPHA:800 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prom... |
OMIM:200990 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Malabsorpti... |
OMIM:600955 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Death in infancy, Thyroid lymphangiectasia, Micrognathia, Cryptorchidis... |
OMIM:235255 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Supernumerary tooth, Yel... |
ORPHA:69087 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni... |
OMIM:214500 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... |
ORPHA:3077 |
Diamond-Blackfan Anemia 11 |
|
Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Wolfram Syndrome 1 |
|
Ptosis, Diabetes mellitus, Diabetes insipidus, Hypothyroidism, Testicular atrophy |
OMIM:222300 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Abnormality of the dentition, Abnormality of canine, Micrognathia, Hypo... |
ORPHA:363417 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Epicanthus, Vaginal hernia, Macrodontia, Abnormal dental enamel morphology... |
ORPHA:2916 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
Apert Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the maxilla, Esophageal atresia, ... |
ORPHA:87 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Thin upper lip vermilion, Hyperthyroidism, Dental crowding, Persistence of primary teeth, Microgn... |
OMIM:170390 |
Trisomy 1Q |
|
Anophthalmia |
ORPHA:261344 |
Distal Deletion 3P |
|
Epicanthus, Telecanthus, Micrognathia, Cryptorchidism, Cleft palate, Downturned corners of mouth,... |
ORPHA:1620 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Epicanthus, Tented upper lip vermilion, Telecanthus, Abnormality of pri... |
ORPHA:438216 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation |
OMIM:603194 |
Alobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Hypotelorism, Neural tube defect, Cyclopia... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Hypotelorism, Neural tube defect, Cyclopia... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Hypotelorism, Neural tube defect, Cyclopia... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Hypotelorism, Neural tube defect, Cyclopia... |
ORPHA:220386 |
Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia |
ORPHA:2169 |
Saethre-Chotzen Syndrome |
|
Epicanthus, Open bite, Cryptorchidism, Hypoplasia of the maxilla, Cleft palate, Narrow palate, Bl... |
ORPHA:794 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Proptosis, Hypertelorism |
ORPHA:93262 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Interstitial Cystitis |
|
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... |
ORPHA:37202 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... |
ORPHA:465508 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Proptosis, Micrognathia |
OMIM:166300 |
Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Thick eyebrow, Hypospadias, Septate vagina, Persistence of primary tee... |
OMIM:300166 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Telecanthus, Hamartoma of tongue, Micrognathia, Epispadias, Crypt... |
OMIM:615948 |
Distal Deletion 12Q |
|
Telecanthus, Median cleft lip, Unilateral cryptorchidism, Diabetes mellitus, Maturity-onset diabe... |
ORPHA:96149 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Felty Syndrome |
|
Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia |
ORPHA:47612 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Micrognathia, Advanced eruption of teeth, Hypospadias, Abnormal dental ename... |
ORPHA:818 |
Cerebellar-Facial-Dental Syndrome |
|
Micrognathia, Sparse eyebrow, Cryptorchidism, Dental malocclusion, Alveolar ridge overgrowth, Tau... |
ORPHA:444072 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Anophthalmia, Spina bifida, Intrauterine growth retardation |
ORPHA:3412 |
Cleidocranial Dysplasia |
|
Delayed eruption of teeth, Mandibular prognathia, Sinusitis, Abnormal dental enamel morphology, A... |
ORPHA:1452 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Epicanthus, Telecanthus, Micrognathia, Cryptorchidism, Cleft lip, Dental malocclusion, Gingival o... |
OMIM:616894 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
OMIM:176270 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:613989 |
Gray Platelet Syndrome |
|
Abnormality of the menstrual cycle |
ORPHA:721 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Holoprosencephaly 14 |
|
Cyclopia |
OMIM:619895 |
Autosomal Agammaglobulinemia |
|
Neutropenia |
ORPHA:33110 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Warburg Micro Syndrome 1 |
|
Microphthalmia |
OMIM:600118 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Telecanthus, Accessory oral frenulum, Hamartoma of tongue, Bilateral cryptorch... |
ORPHA:434179 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Proptosis |
ORPHA:90653 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Epicanthus, Abnormality of the philtrum, Hypoplasia of the premaxilla, Abn... |
ORPHA:2673 |
Pierpont Syndrome |
|
Microphthalmia |
OMIM:602342 |
Opitz Gbbb Syndrome |
|
Thin upper lip vermilion, Telecanthus, Hypospadias, Cleft upper lip, Rectourethral fistula, Crypt... |
OMIM:300000 |
Methylmalonic Aciduria, Cblb Type |
|
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:251110 |
Pparg-Related Familial Partial Lipodystrophy |
|
Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Insulin-resistant diabetes mellitus, Primary ... |
ORPHA:79083 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Neutropenia |
OMIM:616395 |
Carney Complex |
|
Neoplasm of the stomach, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, O... |
ORPHA:1359 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia |
OMIM:613155 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Abnormal size of the palpebral fissures, Hypoplasia of the maxilla, Crypto... |
ORPHA:1101 |
Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Dental crowding, Hypoplasia of the maxilla, Thick lower lip vermilion, Up... |
ORPHA:293939 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Epicanthus, Death in early adulthood, Abnor... |
ORPHA:192 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Duodenal polyposis, Abnormality of the dentition, Adrenocortical carcin... |
ORPHA:79665 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Treacher Collins Syndrome 3 |
|
Micrognathia, Lower eyelid coloboma, Cleft palate, Hypoplasia of the zygomatic bone, Malar flatte... |
OMIM:248390 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation |
ORPHA:290 |
Holoprosencephaly 1 |
|
Micropenis, Cyclopia, Hypotelorism |
OMIM:236100 |
Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Sparse eyelashes, Abnormal dental enamel morphology, Selective tooth a... |
ORPHA:2909 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Telecanthus, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Dental malocclusion, Narrow... |
OMIM:182212 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Submucous cleft hard palate, Cl... |
ORPHA:2250 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia |
OMIM:613730 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Cardiofacioneurodevelopmental Syndrome |
|
Micrognathia, Cryptorchidism, Cleft lip, Cleft palate, Upslanted palpebral fissure |
OMIM:619123 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Micrognathia, Downturned corners of mouth, High palate, Intercrural pterygium, Pterygium, Hypospa... |
OMIM:265000 |
Microphthalmia With Limb Anomalies |
|
Abnormal eyebrow morphology, Death in infancy, Macrodontia, Hypoplasia of the premaxilla, Cleft u... |
ORPHA:1106 |
Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Intestinal malrotation, Female infertility, Chronic si... |
ORPHA:244 |
Chromosome 17Q12 Deletion Syndrome |
|
Mandibular prognathia, Epicanthus, Highly arched eyebrow, Micrognathia, Sparse eyebrow, Cryptorch... |
OMIM:614527 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:610756 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Absent nipple, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, ... |
OMIM:618021 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
Native American Myopathy |
|
Micrognathia, Cryptorchidism, Bilateral ptosis, Cleft palate, Downturned corners of mouth, High p... |
ORPHA:168572 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Supernumerary tooth, Abnormality of the dentition |
ORPHA:627 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, High palate |
OMIM:300676 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Thrombocytopenia, Persisten... |
OMIM:617052 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Epicanthus, Median cleft lip, Accessory oral frenulum, Supernumerary tooth, Hydrometrocolpos, Apl... |
OMIM:617088 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Pycnodysostosis |
|
Obtuse angle of mandible, Decreased serum insulin-like growth factor 1, Decreased response to gro... |
ORPHA:763 |
Congenital Myopathy 13 |
|
Telecanthus, Micrognathia, Cryptorchidism, Cleft palate, Downturned corners of mouth, High palate... |
OMIM:255995 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphopenia, Thrombocytopenia |
OMIM:242900 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
ORPHA:540 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... |
ORPHA:158048 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Micrognathia, High, narrow palate, Inflammation of the large intestine, High palate, Hashimoto th... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Micrognathia, High, narrow palate, Inflammation of the large intestine, High palate, Hashimoto th... |
ORPHA:99228 |
Monosomy X |
|
Micrognathia, High, narrow palate, Inflammation of the large intestine, High palate, Hashimoto th... |
ORPHA:99226 |
Turner Syndrome |
|
Micrognathia, High, narrow palate, Inflammation of the large intestine, High palate, Hashimoto th... |
ORPHA:881 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1438 |
Crouzon Syndrome |
|
Hypoplasia of the maxilla, Proptosis, Iris coloboma, Hypertelorism |
ORPHA:207 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... |
OMIM:102200 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... |
ORPHA:65681 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla, Deeply set eye |
OMIM:608154 |
Marshall Syndrome |
|
Sparse eyelashes, Abnormality of the dentition, Micrognathia, Hypoplasia of the maxilla, Sparse e... |
ORPHA:560 |
Necrotizing Enterocolitis |
|
Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Osteoglophonic Dysplasia |
|
Delayed eruption of teeth, Mandibular prognathia, Telecanthus, Hypospadias, Hypoplasia of the max... |
OMIM:166250 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Malar flattening, Proptosis, Hypertelorism |
OMIM:109120 |
Aspergillosis |
|
Eosinophilia, Neutropenia |
ORPHA:1163 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard palate, Pi... |
OMIM:192430 |
Acrofacial Dysostosis, Cincinnati Type |
|
Ablepharon, Micrognathia, Hypoplasia of the maxilla, Upper eyelid coloboma, Cleft palate, Lower e... |
OMIM:616462 |
Frontorhiny |
|
Epicanthus, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Hypopituitarism... |
ORPHA:391474 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation |
OMIM:611134 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Conical incisor, Enamel hypoplasia, Sparse lateral eyebrow |
OMIM:614564 |
3-Methylglutaconic Aciduria Type 7 |
|
Infection associated neutropenia, Neutropenia |
ORPHA:445038 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia |
OMIM:300887 |
Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... |
OMIM:615962 |
Immunodeficiency 23 |
|
Hemolytic anemia, Eosinophilia, Abscess, Neutropenia, Lymphopenia |
OMIM:615816 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Schimke Immuno-Osseous Dysplasia |
|
Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion of naive CD4 T c... |
ORPHA:1830 |
Cerebrofacioarticular Syndrome |
|
Irregular dentition, Anal stenosis, Epicanthus, Hypospadias, Micrognathia, Hypoplasia of the maxi... |
ORPHA:314679 |
Pontocerebellar Hypoplasia Type 7 |
|
Epicanthus, Micrognathia, Abnormal scrotal rugation, Cryptorchidism, Upslanted palpebral fissure,... |
ORPHA:284339 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Micrognathia, High palate, Enlarged ovaries, Hypospadias, Cryptorchidism, Cleft li... |
ORPHA:2745 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Conical primary incisor, Blepharitis |
OMIM:602400 |
Denys-Drash Syndrome |
|
Epicanthus, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genit... |
OMIM:194080 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:93267 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor... |
ORPHA:90301 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Hamartoma of tongue, Sparse eyebrow, Cryptorchidism, Cleft lip, H... |
OMIM:616300 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... |
OMIM:146255 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Epicanthus, Decreased response to growth hormone stimulation test, Supernumerary nipple, Cleft up... |
OMIM:213980 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia |
ORPHA:508542 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Hypoplasia of penis, Ablepharon, Microdontia, Hypoplasia of the maxilla, Absent e... |
ORPHA:920 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
Cdags Syndrome |
|
Ectropion, Hypospadias, Sparse eyelashes, Rectourethral fistula, Sparse eyebrow, Cleft palate, Re... |
OMIM:603116 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
Ctcf-Related Neurodevelopmental Disorder |
|
Thin upper lip vermilion, Epicanthus, Highly arched eyebrow, Phimosis, Abnormality of the dentiti... |
ORPHA:363611 |
Bresek Syndrome |
|
Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation |
ORPHA:85284 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Rectal prolapse, Multiple gastric polyps, Oral melanotic macule, Hamart... |
OMIM:175200 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:277380 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
Shprintzen-Goldberg Syndrome |
|
Telecanthus, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, High, narrow palate, Retrog... |
ORPHA:2462 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Seckel Syndrome 2 |
|
Microphthalmia |
OMIM:606744 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:93945 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:300863 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Premature thelarche, Micrognathia, Bilateral cryptorchidism, High, narrow palate... |
OMIM:180849 |
Duplication Of The Pituitary Gland |
|
Supernumerary tooth, Abnormal pituitary gland morphology, Abnormality of the tongue, Cleft palate... |
ORPHA:314621 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Thin upper lip vermilion, Epicanthus, Small scrotum, Hypospadias, Micrognathia, Carious teeth, Cr... |
OMIM:616734 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Broad eyebrow, Hypoplasia of the maxilla, Upslanted palpebral fissure, Thin vermilion border, Hig... |
ORPHA:481152 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, X... |
ORPHA:238468 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:617303 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Irritability, ... |
ORPHA:525731 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
H Syndrome |
|
Abnormal eyebrow morphology, Diabetes mellitus, Cleft upper lip, Malabsorption, Gingival overgrow... |
ORPHA:168569 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Renal Agenesis, Bilateral |
|
Epicanthus, Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Abnormal intestine mo... |
ORPHA:1848 |
Peters Plus Syndrome |
|
Intestinal fistula, Thin upper lip vermilion, Hypospadias, Exaggerated cupid's bow, Cleft upper l... |
ORPHA:709 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Microphthalmia, Syndromic 3 |
|
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia |
OMIM:206900 |
Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatosplenomegaly, Enlarg... |
OMIM:608233 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Methylmalonic Aciduria, Cbla Type |
|
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:251100 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Hypoplasia of the maxilla, High palate, Ptosis |
OMIM:218000 |
Fanconi Anemia, Complementation Group I |
|
Neutropenia |
OMIM:609053 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Absent lacrimal punctum, Sparse eyelashes, Abnormal dental enamel morp... |
ORPHA:1071 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... |
OMIM:612541 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... |
OMIM:137920 |
3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:616271 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ectopic anus,... |
ORPHA:83628 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te... |
ORPHA:37553 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Fibular Hemimelia |
|
Anophthalmia, Spina bifida |
ORPHA:93323 |
Cockayne Syndrome Type 1 |
|
Anophthalmia |
ORPHA:90321 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Anorexia, Thrombocytopenia, Reticulocytopenia, Neutropenia, H... |
OMIM:557000 |
Poikiloderma With Neutropenia |
|
Splenomegaly, Leukopenia, Neutropenia |
OMIM:604173 |
Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Lymphocytosis, Neutropenia |
ORPHA:1667 |
Leopard Syndrome 1 |
|
Mandibular prognathia, Epicanthus, Hypospadias, Delayed menarche, Cryptorchidism, Cleft palate, H... |
OMIM:151100 |
Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Cerebrooculonasal Syndrome |
|
Epicanthus, Sparse eyelashes, Sparse eyebrow, Narrow palate, Cleft palate, Downturned corners of ... |
OMIM:605627 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia |
OMIM:308230 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Carious teeth, Hypoplasia of the maxilla, Hypoplasia of teeth, Wide mo... |
ORPHA:50814 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Dysphagia, Neutropenia |
OMIM:615471 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hypospadias, Decreased response to growth hormone stimulation test, Premature thelarche, Cleft so... |
ORPHA:268261 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Ovarian cyst, Uterine ... |
OMIM:617100 |
Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Rectal abscess, Neutropenia |
OMIM:601495 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Diastema, Hypoplasia of the maxilla, Short philtrum |
OMIM:619142 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Everted upper lip vermilion, Absent nipple, Sparse eyelashes, Abnormal oral mucos... |
OMIM:305100 |
Marshall Syndrome |
|
Epicanthus, Malar flattening, Micrognathia, Absent frontal sinuses, Thick lower lip vermilion, Pi... |
OMIM:154780 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Spina bifida occulta |
OMIM:169550 |
Bare Lymphocyte Syndrome, Type Ii |
|
Neutropenia |
OMIM:209920 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia |
OMIM:613153 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... |
ORPHA:3226 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Neutropenia, Microcytic anemia |
OMIM:251900 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
Hartsfield Syndrome |
|
Epicanthus, Median cleft lip, Hypospadias, Cleft upper lip, Cryptorchidism, Gonadotropin deficien... |
OMIM:615465 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Hypoplasia of the maxilla, Sparse eyebrow, Abnormal eyelash morp... |
ORPHA:2399 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation |
ORPHA:228390 |
Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Neutropenia |
OMIM:617050 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, O... |
ORPHA:2753 |
Goldberg-Shprintzen Syndrome |
|
Telecanthus, Aganglionic megacolon, Highly arched eyebrow, Hypoplasia of the maxilla, Synophrys, ... |
OMIM:609460 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... |
ORPHA:167 |
Microcephaly-Capillary Malformation Syndrome |
|
Hypoplasia of the maxilla, Cleft palate, Ptosis |
OMIM:614261 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Entropion, Dental crowding, Bilateral cryptorchidism, Pyloric stenosis, Hy... |
OMIM:617402 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Neutropenia, Megaloblastic anemia |
ORPHA:79284 |
Sepsis In Premature Infants |
|
Splenomegaly, Leukocytosis, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:90051 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Hypertelorism |
OMIM:122880 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Supernumerary tooth, Synophrys, Widely spaced teeth, Hypodontia, Mic... |
ORPHA:90024 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, High palate, Shallow orbits, D... |
OMIM:101600 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Chime Syndrome |
|
Epicanthus, Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Cleft ... |
ORPHA:3474 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:163966 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227645 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95512 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Irritability, Bruxism, Aggressive behavior, Neutropenia |
OMIM:617799 |
Mckusick-Kaufman Syndrome |
|
Aganglionic megacolon, Cryptorchidism, Hydrometrocolpos, Glandular hypospadias, Cleft palate, Ect... |
ORPHA:2473 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:618804 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Faundes-Banka Syndrome |
|
Thin upper lip vermilion, Epicanthus, Premature thelarche, Micrognathia, Cryptorchidism, Cleft pa... |
OMIM:619376 |
Panhypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95513 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia |
OMIM:618652 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele |
OMIM:607597 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Unilateral ptosis, Epicanthus, Hypospadias, Highly arched eyebrow, Bilater... |
ORPHA:1449 |
Dysostosis, Stanescu Type |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Hypoplasia of the... |
ORPHA:1798 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depression, Agit... |
ORPHA:100924 |
Atelosteogenesis, Type Iii |
|
Hypoplasia of the maxilla, Malar flattening, Cleft palate, Micrognathia |
OMIM:108721 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia |
ORPHA:3191 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
Arboleda-Tham Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Mandibular prognathia, Epicanthus, Lacrimal duct ste... |
OMIM:616268 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Multiple gastric polyps, Eruption failure, Papillary thyroid carcinoma, Adeno... |
ORPHA:733 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Hypospadias, Cleft upper lip, Cryptorchidism, Cleft palate, Death in childhood, Shawl scrotum, Mi... |
OMIM:600460 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia |
OMIM:214150 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia |
OMIM:615636 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma, Umbilical hernia |
OMIM:618914 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Micrognathia, Cryptorchidism, High, narrow palate, Tracheoesophageal fistula... |
ORPHA:2879 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
Meckel Syndrome |
|
Encephalocele, Anophthalmia, Anencephaly, Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:564 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absent lacrimal punctum, Telecanthus, Hypoplastic lacrimal duct, Absence of Stensen duct, Delayed... |
OMIM:149730 |
Gorlin-Chaudhry-Moss Syndrome |
|
Abnormal eyelid morphology, Hypoplasia of the maxilla, Abnormality of the dentition, Upper eyelid... |
ORPHA:2095 |
Toxic Epidermal Necrolysis |
|
Neutropenia, Anemia, Dysphagia, Polydipsia, Thrombocytopenia |
ORPHA:537 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hepatosplenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibo... |
OMIM:615952 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia in presence o... |
ORPHA:37042 |
Kagami-Ogata Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Long philtrum, Blepharophimosis, Retrognathia, Short pal... |
OMIM:608149 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia |
OMIM:607944 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Reticulocytopenia, Anemia, Attention deficit hyperactivity disorder, Neutropenia, L... |
OMIM:227646 |
Myhre Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Hypoplasia of the maxilla, Cryptorchidism, Cleft... |
OMIM:139210 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
Cleidocranial Dysplasia 1 |
|
Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup... |
OMIM:119600 |
Malakoplakia |
|
Abnormality of the menstrual cycle, Orchitis, Abnormality of the tongue, Neoplasm of the rectum, ... |
ORPHA:556 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Anorexia |
ORPHA:1302 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Duodenal polyposis, Adrenocortical carcinoma, Supernumerary tooth, Aden... |
ORPHA:247806 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Vici Syndrome |
|
Dysphagia, Leukopenia, T lymphocytopenia, Neutropenia, Decreased proportion of CD4-positive helpe... |
OMIM:242840 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia |
OMIM:614219 |
Menke-Hennekam Syndrome 1 |
|
Thin upper lip vermilion, Everted upper lip vermilion, Epicanthus, Telecanthus, Thick eyebrow, Mi... |
OMIM:618332 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Leigh Syndrome |
|
Dysphagia, Anemia, Neutropenia |
ORPHA:506 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia |
ORPHA:370959 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
Fusariosis |
|
Brain abscess, Lung abscess, Abnormality of the spleen, Granuloma, Neutropenia, Lymphopenia |
ORPHA:228119 |
Joubert Syndrome 37 |
|
Microphthalmia |
OMIM:619185 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:494344 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
X-Linked Intellectual Disability, Armfield Type |
|
Mandibular prognathia, Epicanthus, Micrognathia, Cryptorchidism, Cleft palate, Downturned corners... |
ORPHA:85276 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Supernumerary tooth, Thin vermilion border, Thick vermilion border, Malar flattening, Downslanted... |
ORPHA:86818 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Neutropenia |
OMIM:618005 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Epicanthus, Abnormal dental morphology, Abnormal oral mucosa morpholog... |
ORPHA:2136 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Natal tooth, Hypospadias, Dental crowding, Intestinal malrotation, Micrognathia, Carious teeth, C... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Natal tooth, Hypospadias, Dental crowding, Intestinal malrotation, Micrognathia, Carious teeth, C... |
ORPHA:353277 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
Khan-Khan-Katsanis Syndrome |
|
Lymphopenia, Dysphagia, Anemia, Neutropenia |
OMIM:618460 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
Fetal Alcohol Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1915 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:152950 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2538 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Short lingual frenulum, Supernumerary nipple, Bifid uterus, Abnormal reproductive system morpholo... |
ORPHA:1521 |
7Q31 Microdeletion Syndrome |
|
Epicanthus, Telecanthus, Hypoplasia of the maxilla, Wide mouth, Long philtrum, Short palpebral fi... |
ORPHA:251061 |
Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Epicanthus, Micrognathia, Synophrys, Hypoplastic sweat glands, Dental malocclusion, Localized hyp... |
ORPHA:73223 |
Temtamy Syndrome |
|
Microphthalmia |
OMIM:218340 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Carious teeth, Adrenocortical carcinoma, Supernumerary tooth, Adenomatous col... |
OMIM:175100 |
Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia |
ORPHA:1791 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:277400 |
Doors Syndrome |
|
Thin upper lip vermilion, Epicanthus, Adrenal hyperplasia, Short lingual frenulum, Abnormality of... |
ORPHA:79500 |
Somatomammotropinoma |
|
Mandibular prognathia, Broad jaw, Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea,... |
ORPHA:314769 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2526 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border |
OMIM:620114 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia, Addictive alcohol use |
ORPHA:1930 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia |
OMIM:617883 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
OMIM:613179 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Hypospadias, Dental crowding, Intestinal malrotation, Carious teeth, Cryptorchidism,... |
ORPHA:353281 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Tented upper lip vermilion, Hypergonadotropic hypogonadism, Decreased resp... |
ORPHA:273 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hypertelorism, Hypoplasia of the maxilla, Deeply set eye, Malar flattening |
OMIM:231070 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia |
OMIM:618494 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1352 |
Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia |
OMIM:602361 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
ORPHA:436159 |
Angelman Syndrome |
|
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi... |
OMIM:105830 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, B lymphocytopenia, Anemia, Neutropenia |
OMIM:300755 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Aggressive behavior, Compulsive behaviors, Neutropenia |
ORPHA:163956 |
Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Attention deficit hyperactivity disorder, Neutropenia, Leukemia, Anemia |
ORPHA:221008 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Cleft palate, Parathyroi... |
ORPHA:2237 |
Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Micrognathia, Conical tooth, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
Whim Syndrome |
|
Lymphopenia, Abnormal neutrophil morphology, Neutropenia |
ORPHA:51636 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Anemia |
ORPHA:54251 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia |
OMIM:243310 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Anal stenosis, Hypospadias, Decreased response to growth hormone stimul... |
OMIM:180500 |
Relapsing Fever |
|
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:91547 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Fanconi Anemia, Complementation Group L |
|
Micrognathia, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Upslanted palpebral fi... |
OMIM:614083 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Hermansky-Pudlak Syndrome |
|
Anorexia, Neutropenia |
ORPHA:79430 |
Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia |
OMIM:617244 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Epicanthus, Sparse eyelashes, Hypoplasia of the maxilla, Sparse eyebrow, Cleft palate, Eyelid col... |
ORPHA:306542 |
Trichothiodystrophy |
|
Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia |
ORPHA:33364 |
Odontoonychodermal Dysplasia |
|
Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widel... |
OMIM:257980 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
Joubert Syndrome 14 |
|
Encephalocele, Microphthalmia, Meningocele |
OMIM:614424 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia |
ORPHA:335 |
Marden-Walker Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:248700 |
Neu-Laxova Syndrome 1 |
|
Ablepharon, Swollen lip, Cleft upper lip, Cryptorchidism, Bifid uterus, Thick lower lip vermilion... |
OMIM:256520 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia, Severe intrauterine growth retardation |
OMIM:241410 |
Fraser Syndrome 1 |
|
Encephalocele, Myelomeningocele, Anophthalmia, Bilateral microphthalmos |
OMIM:219000 |
Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Leukocytosis, Neutrophilia, Addictive alcohol use |
ORPHA:36238 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Narrow philtrum, Elevated cir... |
OMIM:601812 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Neoplasm of the ... |
ORPHA:454840 |
Van Den Ende-Gupta Syndrome |
|
Abnormal eyebrow morphology, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narr... |
OMIM:600920 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Neutropenia |
OMIM:232220 |
Primrose Syndrome |
|
Epicanthus, Diabetes mellitus, Hypergonadotropic hypogonadism, Bilateral cryptorchidism, Cryptorc... |
OMIM:259050 |
Warburg Micro Syndrome 4 |
|
Microphthalmia |
OMIM:615663 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Oeis Complex |
|
Intestinal malrotation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Ve... |
OMIM:258040 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Hypoplasia of the premaxilla, Syno... |
OMIM:610828 |
Zttk Syndrome |
|
Absent gallbladder, Epicanthus, Abnormality of the dentition, Hypoplasia of the maxilla, Sparse e... |
OMIM:617140 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2556 |
Charge Syndrome |
|
Microphthalmia, Anophthalmia, Intrauterine growth retardation |
ORPHA:138 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Umbilical hernia, Bilateral microphthalmos |
ORPHA:369891 |
Kikuchi-Fujimoto Disease |
|
Anorexia, Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia |
ORPHA:50918 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
Tooth Agenesis, Selective, 4 |
|
Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Tooth agenesis, Short ... |
OMIM:150400 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Intrauterine growth retardation, Bilateral microphthalmos |
OMIM:610758 |
Refsum Disease |
|
Microphthalmia |
ORPHA:773 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Neutropenia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:79282 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia |
OMIM:614204 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Splenomegaly, Dysphagia, Anemia, Neutropenia, Hypoplastic spleen, ... |
ORPHA:699 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia |
ORPHA:891 |
Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Cleft upper lip, Absent external genitalia, Micrognathia, Cleft... |
OMIM:273395 |
Floating-Harbor Syndrome |
|
Hypospadias, Persistence of primary teeth, Precocious puberty, Cryptorchidism, Celiac disease, Ca... |
ORPHA:2044 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Anal stenosis, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal tr... |
ORPHA:322 |
Micro Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:2510 |
Hypermobile Ehlers-Danlos Syndrome |
|
Epicanthus, Abnormality of the dentition, Malabsorption, Abnormality of the menstrual cycle, Abno... |
ORPHA:285 |
Rothmund-Thomson Syndrome Type 2 |
|
Leukemia, Aplastic anemia, Anemia, Neutropenia |
ORPHA:221016 |
Cartilage-Hair Hypoplasia |
|
Anemia, Neutropenia |
ORPHA:175 |
Branchiooculofacial Syndrome |
|
Telecanthus, Hypospadias, Supernumerary nipple, Cleft upper lip, Malrotation of colon, Cryptorchi... |
OMIM:113620 |
Fraser Syndrome |
|
Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia |
ORPHA:2052 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Myelomeningocele, Umbilical hernia, Aniridia, Microphthalmia, Spina bifida occulta |
OMIM:305600 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Epicanthus, Tented upper lip vermilion, Miscarriage, External genital hypo... |
ORPHA:96334 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:244300 |
Warburg Micro Syndrome 3 |
|
Microphthalmia |
OMIM:614222 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
Klippel-Trénaunay Syndrome |
|
Abnormality of the menstrual cycle |
ORPHA:90308 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia |
OMIM:234050 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia |
OMIM:619135 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:251230 |
Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
Stickler Syndrome |
|
Epicanthus, Telecanthus, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Micrognat... |
ORPHA:828 |
3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Neutropenia |
OMIM:271510 |
3-Methylglutaconic Aciduria, Type Viii |
|
Dysphagia, Neutropenia |
OMIM:617248 |
Craniosynostosis And Dental Anomalies |
|
Delayed eruption of teeth, Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Sup... |
OMIM:614188 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:3301 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation |
OMIM:613451 |
Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor, Aplasia of the eccrine sweat glands |
OMIM:300291 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia |
OMIM:612530 |
Adams-Oliver Syndrome |
|
Encephalocele, Microphthalmia |
ORPHA:974 |
Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Anal atresia, Bifid uterus |
OMIM:617466 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia, Encephalocele |
OMIM:613150 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia |
OMIM:618571 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Microphthalmia, Anencephaly |
OMIM:619148 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
OMIM:616449 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:613001 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells |
OMIM:617099 |
Warburg Micro Syndrome 2 |
|
Microphthalmia |
OMIM:614225 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:2714 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia |
ORPHA:35173 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hypersplenism, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome... |
ORPHA:228426 |
8Q24.3 Microdeletion Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Ectopic posterior pituitary, Thick eyebrow, Epicanth... |
ORPHA:508488 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Hypertelorism, Proptosis |
OMIM:259600 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... |
ORPHA:331235 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:603467 |
Hydrolethalus Syndrome 1 |
|
Median cleft lip, Hypospadias, Bifid uterus, Micrognathia, Cleft palate, Stillbirth, Adrenal glan... |
OMIM:236680 |
Wilson Disease |
|
Abnormality of the menstrual cycle |
ORPHA:905 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Microphthalmia, Optic nerve hypoplasia |
OMIM:614643 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
Curry-Jones Syndrome |
|
Occipital meningocele, Microphthalmia, Lipomyelomeningocele |
OMIM:601707 |
Mosaic Trisomy 9 |
|
Microphthalmia, Spina bifida, Intrauterine growth retardation |
ORPHA:99776 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Microphthalmia |
OMIM:253800 |
Weill-Marchesani Syndrome 1 |
|
Hypoplasia of the maxilla, Tooth malposition, Narrow palate, Shallow orbits |
OMIM:277600 |
Oculoauricular Syndrome |
|
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:617729 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia |
OMIM:610651 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
Charge Syndrome |
|
Microphthalmia, Anophthalmia, Umbilical hernia, Unilateral microphthalmos |
OMIM:214800 |
Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
Zygomycosis |
|
Brain abscess, Splenic abscess, Neutropenia |
ORPHA:73263 |
Loeys-Dietz Syndrome |
|
Micrognathia, Orofacial cleft, High palate, Uterine rupture, Malar flattening, Bifid uvula |
ORPHA:60030 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Abnormal myeloid leukocyte morphology, Chronic neutropenia, Anemia |
ORPHA:79259 |
Joubert Syndrome 2 |
|
Encephalocele, Microphthalmia |
OMIM:608091 |
Meckel Syndrome 14 |
|
Microphthalmia, Occipital encephalocele |
OMIM:619879 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Chronic neutropenia |
ORPHA:500095 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation |
OMIM:251300 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
Phace Association |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:606519 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
ORPHA:391487 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia |
OMIM:236670 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia |
OMIM:601675 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Bilateral microphthalmos, Spina bifida |
ORPHA:2839 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia |
OMIM:300952 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
Microphthalmia, Lenz Type |
|
Microphthalmia |
ORPHA:568 |
1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:250989 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia |
OMIM:302960 |
Duane-Radial Ray Syndrome |
|
Microphthalmia, Spina bifida occulta, Optic disc hypoplasia |
OMIM:607323 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:65286 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Glycogen Storage Disease Ic |
|
Cyclic neutropenia |
OMIM:232240 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Palpebral edema, Narrow mouth, Thick lower lip vermilion, Mesiodens, Long philtrum |
ORPHA:314647 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia |
OMIM:607932 |
Vascular Ehlers-Danlos Syndrome |
|
High, narrow palate, Abnormality of the gingiva, Gingivitis, Periodontitis, Uterine rupture, Micr... |
ORPHA:286 |
Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia |
OMIM:617107 |
Greenberg Dysplasia |
|
Micrognathia, Hypertelorism, Large placenta, Hypoplasia of the maxilla, Stillbirth, Neonatal deat... |
OMIM:215140 |
Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Microphthalmia, Umbilical hernia, Spina bifida |
ORPHA:2092 |
Stromme Syndrome |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:243605 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anorexia, Oral-pharyngeal dysphagia, Depression, Neutropenia, Anemia |
ORPHA:95455 |
Mosaic Trisomy 1 |
|
Microphthalmia |
ORPHA:1692 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Micrognathia, Supernumerary tooth, Bile duct proliferation, Type I diabetes mellitus, Ankyloglossia |
OMIM:619525 |
Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Narrow palate, High palate, Shallow orbits, Tooth malposition |
OMIM:608328 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... |
OMIM:609049 |
Jacobsen Syndrome |
|
Microphthalmia, Macular hypoplasia, Intrauterine growth retardation |
OMIM:147791 |
Papillorenal Syndrome |
|
Microphthalmia |
OMIM:120330 |
Cousin Syndrome |
|
Hydranencephaly, Microphthalmia |
OMIM:260660 |
Saethre-Chotzen Syndrome |
|
Abnormal nasolacrimal system morphology, Hypoplasia of the maxilla, Cleft of chin, Cleft palate, ... |
OMIM:101400 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
ORPHA:464738 |
Cat Eye Syndrome |
|
Microphthalmia, Umbilical hernia |
OMIM:115470 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Unilateral microphthalmos |
OMIM:618874 |
Fryns Syndrome |
|
Microphthalmia |
ORPHA:2059 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia |
ORPHA:1236 |
Dubowitz Syndrome |
|
Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation |
OMIM:223370 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia |
OMIM:300895 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Hypoplasia of the maxilla, Hypoplasia of the anterior nasal spine |
ORPHA:79345 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Broad lateral eyebrow, Epicanthus, Hypoplasia of the maxilla, Sparse eyebrow,... |
ORPHA:500150 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia |
ORPHA:85167 |
Lymphedema-Distichiasis Syndrome |
|
Microphthalmia |
OMIM:153400 |
Incontinentia Pigmenti |
|
Microphthalmia, Spina bifida occulta, Umbilical hernia |
ORPHA:464 |
Momo Syndrome |
|
Bilateral microphthalmos |
ORPHA:2563 |
Monosomy 9Q22.3 |
|
Microphthalmia, Umbilical hernia |
ORPHA:77301 |
Pallister-Hall Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:146510 |
2Q31.1 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:251014 |
Atelis Syndrome 2 |
|
Microphthalmia |
OMIM:620185 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia |
ORPHA:2612 |
Teebi-Shaltout Syndrome |
|
Microphthalmia |
OMIM:272950 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia |
ORPHA:268249 |
Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Spina bifida |
OMIM:109400 |
Steinfeld Syndrome |
|
Microphthalmia |
OMIM:184705 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:308300 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia |
OMIM:201180 |
Monosomy 13Q14 |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1587 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia |
OMIM:127000 |
Mosaic Variegated Aneuploidy Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1052 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Microphthalmia, Optic nerve hypoplasia, Spina bifida |
ORPHA:508498 |
Acro-Renal-Ocular Syndrome |
|
Microphthalmia, Optic disc hypoplasia |
ORPHA:959 |
Craniofacial Microsomia 1 |
|
Microphthalmia, Occipital encephalocele, Anophthalmia, Branchial anomaly |
OMIM:164210 |
Fraser Syndrome 2 |
|
Microphthalmia |
OMIM:617666 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:620005 |
Aspartylglucosaminuria |
|
Vacuolated lymphocytes, Neutropenia |
OMIM:208400 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Microphthalmia, Intrauterine growth retardation |
OMIM:616975 |
Histiocytoid Cardiomyopathy |
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Microphthalmia, Congenital aphakia |
ORPHA:137675 |
Frontofacionasal Dysplasia |
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Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
Cockayne Syndrome B |
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Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation |
OMIM:133540 |
African Trypanosomiasis |
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Miscarriage, Abnormality of the menstrual cycle, Abnormality of the endocrine system, Abnormality... |
ORPHA:3385 |
Oculodentodigital Dysplasia |
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Microphthalmia |
OMIM:164200 |
Sponastrime Dysplasia |
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Neutropenia |
ORPHA:93357 |
Aicardi Syndrome |
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Microphthalmia, Spina bifida |
OMIM:304050 |
Phace Syndrome |
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Microphthalmia, Lens coloboma, Optic nerve hypoplasia |
ORPHA:42775 |
Fanconi Anemia |
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Spina bifida, Aplasia/Hypoplasia of the iris, Umbilical hernia, Microphthalmia, Intrauterine grow... |
ORPHA:84 |
Roberts Syndrome |
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Microphthalmia, Severe intrauterine growth retardation |
ORPHA:3103 |
Meckel Syndrome, Type 1 |
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Occipital encephalocele, Large placenta, Anencephaly, Microphthalmia, Intrauterine growth retarda... |
OMIM:249000 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
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Microphthalmia |
OMIM:601552 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Microphthalmia |
OMIM:617925 |
22Q11.2 Deletion Syndrome |
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Spina bifida, Meningocele, Occipital myelomeningocele, Umbilical hernia, Microphthalmia, Intraute... |
ORPHA:567 |
Aicardi Syndrome |
|
Microphthalmia |
ORPHA:50 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Microphthalmia, Intrauterine growth retardation |
OMIM:608670 |
Osteoporosis-Pseudoglioma Syndrome |
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Microphthalmia, Phthisis bulbi |
OMIM:259770 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Branchial cyst, Microphthalmia, Intrauterine growth retardation |
OMIM:620186 |
Oculocerebrorenal Syndrome Of Lowe |
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Buphthalmos, Microphthalmia, Umbilical hernia |
ORPHA:534 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Intrauterine growth retardation, Bilateral microphthalmos, Optic nerve hypoplasia |
ORPHA:468631 |
Mend Syndrome |
|
Microphthalmia |
ORPHA:401973 |
Monosomy 9P |
|
Microphthalmia |
ORPHA:261112 |
Chromosome 13Q14 Deletion Syndrome |
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Microphthalmia, Umbilical hernia |
OMIM:613884 |
Cockayne Syndrome Type 3 |
|
Microphthalmia |
ORPHA:90324 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Intrauterine growth retardation, Bilateral microphthalmos |
ORPHA:93325 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Microphthalmia |
OMIM:609945 |
Singleton-Merten Syndrome 1 |
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Thin upper lip vermilion, Carious teeth, Hypoplasia of the maxilla, Eruption failure, Short denta... |
OMIM:182250 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Buphthalmos, Microphthalmia, Hypoplasia of the retina |
OMIM:253280 |
Adams-Oliver Syndrome 1 |
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Encephalocele, Microphthalmia |
OMIM:100300 |
Fryns Syndrome |
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Microphthalmia |
OMIM:229850 |
Fontaine Progeroid Syndrome |
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Microphthalmia, Umbilical hernia, Intrauterine growth retardation |
OMIM:612289 |
Degcags Syndrome |
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Microphthalmia, Intrauterine growth retardation |
OMIM:619488 |
Cockayne Syndrome |
|
Microphthalmia |
ORPHA:191 |
Neuroocular Syndrome |
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Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Umbilical hernia |
OMIM:619539 |
Yunis-Varon Syndrome |
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Microphthalmia, Bilateral microphthalmos |
ORPHA:3472 |
Renpenning Syndrome 1 |
|
Microphthalmia |
OMIM:309500 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Microphthalmia |
OMIM:612474 |
Witteveen-Kolk Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Branchial fistula |
OMIM:613406 |
Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia |
OMIM:309000 |
Norrie Disease |
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Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:649 |
Pallister-Hall Syndrome |
|
Microphthalmia, Umbilical hernia, Intrauterine growth retardation |
ORPHA:672 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hypoplasia of the iris, Microphthalmia |
OMIM:175780 |
Mowat-Wilson Syndrome |
|
Microphthalmia |
OMIM:235730 |
Roberts-Sc Phocomelia Syndrome |
|
Microphthalmia, Frontal encephalocele, Severe intrauterine growth retardation |
OMIM:268300 |
Townes-Brocks Syndrome |
|
Microphthalmia |
ORPHA:857 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Microphthalmia |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Microphthalmia |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Microphthalmia |
ORPHA:261552 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300106 |