Testicular Torsion |
|
Testicular torsion, Torsion of appendix of testis |
OMIM:187400 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... |
OMIM:614837 |
Spermatogenic Failure 12 |
|
Abnormal male germ cell morphology, Infertility, Azoospermia |
OMIM:615413 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... |
ORPHA:1646 |
Isochromosomy Yp |
|
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... |
ORPHA:98797 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Orofacial Cleft 15 |
|
Sparse eyebrow, Bilateral cleft lip, Agenesis of lateral incisor, Epicanthus, Euryblepharon, Bila... |
OMIM:616788 |
Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Isochromosomy Yq |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... |
ORPHA:98798 |
Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... |
OMIM:619528 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:616030 |
Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:614897 |
Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
Spermatogenic Failure 51 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:619177 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... |
ORPHA:529970 |
Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
Spermatogenic Failure 49 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... |
ORPHA:488191 |
Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, High palate, Decreased testicul... |
OMIM:308700 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly, Depression |
OMIM:602079 |
Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, High palate, Hypothalamic gonad... |
OMIM:308750 |
Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
Spermatogenic Failure 24 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... |
OMIM:617959 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, In... |
ORPHA:399805 |
Oligodontia |
|
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... |
ORPHA:99798 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Anophthalmia |
OMIM:611638 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... |
ORPHA:261529 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head |
OMIM:243060 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Non-midline cleft lip, Ankyloblepharon, Tooth agenesis, Cryptorchidism, Cleft palate |
ORPHA:1074 |
Cleft Lip/Palate |
|
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... |
ORPHA:199306 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Delayed Puberty, Self-Limited |
|
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru... |
OMIM:619613 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... |
OMIM:620103 |
Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Delayed puberty, Primary amenorrhea, Abnorma... |
OMIM:300604 |
Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
Spermatogenic Failure 8 |
|
Oligospermia, Cryptozoospermia, Azoospermia |
OMIM:613957 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis |
OMIM:241100 |
Spermatogenic Failure 21 |
|
Infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617644 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Secondary amenorrhea, Decreased circulating ... |
OMIM:228300 |
Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
Spermatogenic Failure 2 |
|
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... |
OMIM:108420 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility, Miscarriage |
OMIM:619176 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:614839 |
Immunodeficiency 110 With Lymphoproliferation |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Ptosis, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... |
OMIM:300510 |
Ovarian Dysgenesis 7 |
|
Primary amenorrhea, Delayed puberty, Hypoplasia of the uterus |
OMIM:618117 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:612310 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... |
OMIM:614841 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619665 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Premature Ovarian Failure 10 |
|
Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas... |
OMIM:612885 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... |
OMIM:262600 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... |
ORPHA:52901 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... |
OMIM:616950 |
Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l... |
OMIM:612964 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Decreased circulating follicle stimulating hormone concentration, Epicanthus, Delayed puberty, Cr... |
OMIM:619761 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration, Female infertility, Menorrhagia, Oligomenorrhea |
OMIM:615555 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
Premature Ovarian Failure 13 |
|
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... |
OMIM:617442 |
Premature Ovarian Failure 18 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... |
OMIM:619203 |
X-Linked Severe Congenital Neutropenia |
|
Neutropenia, Monocytopenia |
ORPHA:86788 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,... |
ORPHA:168563 |
Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
Ovarian Dysgenesis 6 |
|
Primary amenorrhea, Absence of pubertal development, Hypergonadotropic hypogonadism, Hypoplasia o... |
OMIM:618078 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
Endometriosis, Susceptibility To, 1 |
|
Endometriosis, Dysmenorrhea, Decreased fertility |
OMIM:131200 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Perrault Syndrome 6 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... |
OMIM:617565 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... |
OMIM:618433 |
48,Xyyy Syndrome |
|
Primary gonadal insufficiency, Enamel hypoplasia, High palate, Long philtrum, Epicanthus, Thick l... |
ORPHA:99329 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Impotence, Primary amenorrhea, Cleft palate, Hypoplasia of the uterus, Delayed puberty, Absence o... |
ORPHA:432 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Primary amenorrhea, Microphallus, Decreased testicular size, Absence of pubertal development, Cry... |
OMIM:614840 |
48,Xxyy Syndrome |
|
Broad jaw, Upslanted palpebral fissure, Delayed eruption of teeth, Decreased testicular size, Thi... |
ORPHA:10 |
Asherman Syndrome |
|
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... |
ORPHA:137686 |
Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
Perrault Syndrome 4 |
|
Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:615300 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated... |
OMIM:618086 |
Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:617743 |
Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Synophrys, Abnormality of the ovary, Short philtrum, Hypoplas... |
ORPHA:247768 |
Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary amenorrhea, El... |
OMIM:617690 |
Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... |
ORPHA:90797 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
S-shaped palpebral fissures, Thick eyebrow, Telecanthus, Hypoplasia of the uterus, Decreased fert... |
ORPHA:572333 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Perrault Syndrome 3 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:614129 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Cleft upper lip, Bicornuate uterus, Micrognathia, Azoospermia, Cleft palate, Hypoplasia of the ut... |
OMIM:601076 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, High palate, Premature ovarian insufficiency, Blepharophimosis, Increased... |
OMIM:110100 |
Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... |
OMIM:619949 |
Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the uterus |
OMIM:608996 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Agenesis of incisor, Enamel hypomineralization, Widely spaced teeth, Microdon... |
ORPHA:3352 |
46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
Elsahy-Waters Syndrome |
|
Abnormality of the anus, Delayed eruption of teeth, Synophrys, Bifid uvula, Thick eyebrow, Agenes... |
OMIM:211380 |
Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... |
OMIM:615842 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Aplasia of the maxilla, Selective tooth agenesis, Agenesis of lateral incisor, Hypodontia, Anodon... |
OMIM:313500 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ambiguous genitalia, Short mandibular condyles, Hypoplasia of the maxilla, Primary amenorrhea, Cl... |
OMIM:264270 |
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Increased size of the clitoris, Mandibular condyle hypoplasia, Ambiguous genitalia, female, Hypop... |
ORPHA:2975 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Retrognathia, Decreased response to growth hormone stimulation test, Long philtrum, Decreased tes... |
ORPHA:280679 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Male infertility, Obstructive azoospermia |
OMIM:301060 |
Holoprosencephaly 9 |
|
Dental malocclusion, Agenesis of incisor, Anterior pituitary hypoplasia, Decreased response to gr... |
OMIM:610829 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:614082 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size |
ORPHA:393 |
Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Infertility, Azoospermia, Type II diabetes mellitus |
OMIM:615703 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:615113 |
Diethylstilbestrol Syndrome |
|
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... |
ORPHA:1916 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Cleft mandible, Short palpebral fissure, Prominence of the zygomatic bone, Pierre-Robin sequence,... |
ORPHA:364577 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Decrease... |
ORPHA:90796 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Irritability, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Extramedullary hematopoiesis, Thrombocytopenia, Neutropenia, Splenomegaly |
OMIM:615285 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Azoospermia, Hypergonadotropic hypogonadism, High... |
ORPHA:2183 |
Chand Syndrome |
|
Imperforate hymen, Bifid tongue, Ankyloblepharon, Commissural lip pit, Abnormal oral frenulum mor... |
ORPHA:1401 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Ovarian Dysgenesis 3 |
|
Aplasia of the ovary, Female infertility, Delayed puberty, Elevated circulating luteinizing hormo... |
OMIM:614324 |
Mohr Syndrome |
|
Lobulated tongue, Bifid tongue, High palate, Tongue nodules, Micrognathia, Median cleft lip, Hypo... |
OMIM:252100 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Specific Granule Deficiency 1 |
|
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Absent neutrophil lac... |
OMIM:245480 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Abnormal internal genitalia, Decreased serum testosterone concentration... |
OMIM:273250 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
46,Xy Sex Reversal 4 |
|
High palate, Long philtrum, Sex reversal, Micrognathia, Hypoplastic labia majora, Agonadism, Anal... |
OMIM:154230 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Retrognathia, Decreased response to growth hormone stimulation test, Long philtrum, Decreased tes... |
OMIM:300845 |
48,Xxxy Syndrome |
|
Upslanted palpebral fissure, Mandibular prognathia, Hypogonadism, Delayed eruption of teeth, Decr... |
ORPHA:96263 |
Congenital Varicella Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:291 |
Glutathione Synthetase Deficiency |
|
Neutropenia, Hemolytic anemia |
OMIM:266130 |
Orofaciodigital Syndrome Type 2 |
|
Talon cusp, Bifid tongue, High palate, Natal tooth, Tongue nodules, Unilateral alveolar cleft of ... |
ORPHA:2751 |
Androgen Insensitivity, Partial |
|
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... |
OMIM:312300 |
Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea |
OMIM:602390 |
46,Xy Sex Reversal 3 |
|
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... |
OMIM:612965 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:607080 |
Microphthalmia, Syndromic 8 |
|
Short palpebral fissure, Cleft upper lip, Mandibular prognathia, Blepharophimosis, Widely-spaced ... |
OMIM:601349 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Incisor macrodontia, Long philtrum, Epicanthus, Long eyelashes, Narrow mouth, Thin vermilion bord... |
OMIM:615502 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Satoyoshi Syndrome |
|
Sparse or absent eyelashes, Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of th... |
ORPHA:3130 |
Refractory Anemia |
|
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytopenia, Anemia... |
ORPHA:98826 |
49,Xxxxy Syndrome |
|
Upslanted palpebral fissure, Mandibular prognathia, Hypogonadism, Delayed eruption of teeth, Decr... |
ORPHA:96264 |
Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... |
OMIM:301077 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Monocyt... |
OMIM:614470 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Conical tooth, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphology, Agenesis ... |
ORPHA:2228 |
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 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 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility |
OMIM:617996 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Neutropenia, Absent circulating B cells |
OMIM:613501 |
Gonadoblastoma |
|
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... |
ORPHA:206484 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Hypertelorism, Proptosis, Cyclopia |
ORPHA:2165 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... |
OMIM:614172 |
Leydig Cell Hypoplasia |
|
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... |
ORPHA:755 |
Testicular Regression Syndrome |
|
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... |
ORPHA:983 |
Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Polycystic ovaries, Delayed puberty,... |
OMIM:615363 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Cleft palate, Bifid uvula, Death in infancy, Bicornuate uterus |
OMIM:258320 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Hooded eyelid, Micrognathia, Synophrys, Smooth philtrum, Agenesis of incisor, Ptosis, Cryptorchid... |
OMIM:619841 |
49,Xyyyy Syndrome |
|
Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre... |
ORPHA:99330 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Impotence, Small pituitary gland, Increased circulating gonadotropin level, Primary amenorrhea, P... |
ORPHA:2232 |
Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... |
OMIM:300200 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Mandibular aplasia, Hypoplasia of penis, Cyclopia |
ORPHA:990 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Neutropenia, Acute lymphoblastic leukemia |
OMIM:610738 |
W Syndrome |
|
Downslanted palpebral fissures, Agenesis of maxillary central incisor, Upper lip pit, Submucous c... |
ORPHA:2804 |
Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Miscarriage, Enlarged uterus |
ORPHA:99927 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Microdontia, Supernumerary tooth, Diastema, Agenesis of molar, Hypospadias, Delayed puberty, Cryp... |
OMIM:619718 |
46,Xy Sex Reversal 1 |
|
Ambiguous genitalia, Abnormality of female external genitalia, Gonadoblastoma, Sex reversal, Abse... |
OMIM:400044 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia, Orbital encephalocele |
OMIM:164180 |
Transcobalamin Deficiency |
|
Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia |
ORPHA:859 |
47,Xyy Syndrome |
|
Macroorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Increased circulat... |
ORPHA:8 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Decreased testicular size, Infertility, Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypo... |
OMIM:146110 |
Gordon Holmes Syndrome |
|
Primary amenorrhea, Secondary amenorrhea, Absence of pubertal development, Oligomenorrhea, Hypogo... |
OMIM:212840 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... |
ORPHA:90791 |
Solitary Median Maxillary Central Incisor |
|
Decreased response to growth hormone stimulation test, Coloboma, Anterior hypopituitarism, Cyclop... |
OMIM:147250 |
Arthrogryposis, Distal, Type 1C |
|
Retrognathia, High palate, Blepharophimosis, Bifid uvula, Narrow mouth, Thin vermilion border, Pu... |
OMIM:619110 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... |
OMIM:159550 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Decreased testicular size, Anal atresia, Hypoplasia of the maxilla, Upslan... |
ORPHA:93950 |
Clark-Baraitser syndrome |
|
Macroorchidism, Downslanted palpebral fissures, Prominent median palatal raphe, Thick lower lip v... |
OMIM:300602 |
Bloom Syndrome |
|
Decreased fertility in females, Agenesis of maxillary lateral incisor, Type II diabetes mellitus,... |
OMIM:210900 |
Atkin-Flaitz Syndrome |
|
Macroorchidism, Thick vermilion border, Maxillary lateral incisor microdontia, Everted lower lip ... |
ORPHA:1193 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Ptosis, Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism |
ORPHA:2229 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... |
OMIM:619755 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Ambiguous genitalia, Encephalocele, Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of pen... |
ORPHA:2166 |
Xp22.3 Microdeletion Syndrome |
|
Decreased fertility, Ectopic anus, Secondary amenorrhea, Polycystic ovaries, Hypogonadotropic hyp... |
ORPHA:1643 |
Popliteal Pterygium Syndrome |
|
Fibrous syngnathia, Cleft upper lip, Intercrural pterygium, Lower lip pit, Hypoplasia of the vagi... |
OMIM:119500 |
Premature Ovarian Failure 20 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:619938 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia |
OMIM:612527 |
Filippi Syndrome |
|
Ambiguous genitalia, Microdontia, Abnormality of dental morphology, Hypodontia, Short philtrum, C... |
OMIM:272440 |
Maternal Uniparental Disomy Of Chromosome X |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... |
ORPHA:261519 |
Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
Joubert Syndrome 26 |
|
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism... |
OMIM:616784 |
Fetal Akinesia Deformation Sequence 4 |
|
Retrognathia, Prenatal death, High palate, Micrognathia, Cryptorchidism, Neonatal death |
OMIM:618393 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cleft palate, Cleft lip, Cryptorchidism |
OMIM:612370 |
8Q22.1 Microdeletion Syndrome |
|
Sparse eyebrow, Long philtrum, Hypogonadism, Blepharophimosis, Submucous cleft hard palate, Hypop... |
ORPHA:178303 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... |
ORPHA:83451 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, Splenomegaly |
OMIM:603552 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Occipital encephalocele, Encephalocele, Anophthalmia |
OMIM:613885 |
Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility |
ORPHA:3000 |
Atkin-Flaitz Syndrome |
|
Macroorchidism, Downslanted palpebral fissures, Prominent median palatal raphe, Thick lower lip v... |
OMIM:300431 |
Ovarian Fibrothecoma |
|
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... |
ORPHA:314478 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Complete Androgen Insensitivity Syndrome |
|
Increased serum estradiol, Increased serum testosterone level, Abnormal circulating follicle-stim... |
ORPHA:99429 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Mosaic Trisomy 14 |
|
High palate, Wide mouth, Ectopic anus, Blepharophimosis, Micrognathia, Hypoplasia of penis, Ptosi... |
ORPHA:1703 |
Zimmermann-Laband Syndrome |
|
Downslanted palpebral fissures, High palate, Wide mouth, Micrognathia, Hypodontia, Bifid uvula, G... |
ORPHA:3473 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:616570 |
Fetal Akinesia Deformation Sequence 2 |
|
Downslanted palpebral fissures, High palate, Micrognathia, Tented upper lip vermilion, Cryptorchi... |
OMIM:618388 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
Kennedy Disease |
|
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus |
ORPHA:481 |
46,Xy Sex Reversal 7 |
|
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... |
OMIM:233420 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Conical tooth, Conjunctivitis, Cleft upper lip, Selective tooth agenesis, Widely spaced teeth, Hy... |
OMIM:106260 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Epicanthus, Mic... |
ORPHA:1772 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Cornelia De Lange Syndrome 5 |
|
Retrognathia, High palate, Long philtrum, Hypogonadism, Widely spaced teeth, Decreased testicular... |
OMIM:300882 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
Functioning Gonadotropic Adenoma |
|
Impotence, Anterior hypopituitarism, Decreased female libido, Oligospermia, Increased circulating... |
ORPHA:91348 |
Congenital Myopathy 13 |
|
Short palpebral fissure, Downslanted palpebral fissures, High palate, Blepharophimosis, Micrognat... |
OMIM:255995 |
46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... |
OMIM:400045 |
8P11.2 Deletion Syndrome |
|
Upslanted palpebral fissure, High palate, Hypogonadism, Epicanthus, Blepharophimosis, Micrognathi... |
ORPHA:251066 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia |
ORPHA:2688 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... |
ORPHA:785 |
Seckel Syndrome 5 |
|
Retrognathia, Enamel hypoplasia, Downslanted palpebral fissures, High palate, Selective tooth age... |
OMIM:613823 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Neutropenia |
OMIM:613502 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Short palpebral fissure, Decreased response to growth hormone stimulation test, High palate, Dela... |
OMIM:615866 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... |
OMIM:278850 |
Microform Holoprosencephaly |
|
Ambiguous genitalia, Hypoplasia of penis, Panhypopituitarism, Iris coloboma, Cyclopia, Hypotelorism |
ORPHA:280200 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia |
ORPHA:48 |
Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated cir... |
OMIM:619834 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Decreased circulating luteinizing hormone level, Congenital adrenal hypoplasia, Micropenis, Crypt... |
OMIM:202150 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
High palate, Small pituitary gland, Delayed puberty, Cryptorchidism, Cleft lip, Primary amenorrhe... |
OMIM:612702 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ure... |
ORPHA:2795 |
Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
Rubinstein-Taybi Syndrome 2 |
|
Retrognathia, Talon cusp, Dental malocclusion, Downslanted palpebral fissures, Narrow palate, Hig... |
OMIM:613684 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Decreased testicular size, Small pituitary gland, Cryptorchidism, Primary amenorrhea, Cleft palat... |
OMIM:614880 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... |
ORPHA:280356 |
46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis |
ORPHA:242 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:609054 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
Aarskog-Scott Syndrome |
|
Downslanted palpebral fissures, Cleft upper lip, Long philtrum, Delayed eruption of teeth, Shawl ... |
ORPHA:915 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocytopenia, Splenomega... |
OMIM:150550 |
Premature Ovarian Failure 5 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... |
OMIM:611548 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased testicular size, Decreased serum leptin, Primary amenorrhea, Micropenis |
OMIM:614962 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Bicornuate uterus, Cyclopia, Cryptorchidism, Micropenis, Hypotelorism |
OMIM:264480 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Hemochromatosis, Type 1 |
|
Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hypogonadotropic hypogonadism, Ame... |
OMIM:235200 |
Woodhouse-Sakati Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... |
ORPHA:3464 |
Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia, Neutropenia |
OMIM:598500 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Uterus didelphys, Metrorrhagia, Partial vaginal septum, Abnormal uterine cervix morphology, Dyspa... |
ORPHA:3411 |
Holoprosencephaly 3 |
|
Central diabetes insipidus, Cyclopia, Proptosis, Malar flattening, Hypotelorism |
OMIM:142945 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Ring Chromosome 21 Syndrome |
|
Diabetes insipidus, Infertility, Azoospermia, Amenorrhea |
ORPHA:1445 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea |
OMIM:233300 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea |
OMIM:184700 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Absent outer dynein arms, Azoospermia, Chronic sinusitis |
OMIM:618300 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... |
OMIM:615723 |
Seckel Syndrome 7 |
|
Primary amenorrhea, Central hypothyroidism, Hypoplasia of the uterus |
OMIM:614851 |
Placental Site Trophoblastic Tumor |
|
Metrorrhagia, Amenorrhea, Miscarriage |
ORPHA:99928 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... |
OMIM:615724 |
Aarskog-Scott Syndrome |
|
Downslanted palpebral fissures, Cleft upper lip, Shawl scrotum, Hypodontia, Bilateral cryptorchid... |
OMIM:305400 |
Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Meningioma |
|
Enlarged pituitary gland, Neoplasm of the tongue, Increased circulating prolactin concentration, ... |
ORPHA:2495 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism |
OMIM:614858 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
Satoyoshi Syndrome |
|
Malabsorption, Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Downslanted palpebral fissures, Micrognathia, Supernumerary tooth, Carious teeth, Delayed puberty... |
ORPHA:3145 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
Cortisone Reductase Deficiency 1 |
|
Infertility, Precocious puberty, Oligomenorrhea |
OMIM:604931 |
Myhre Syndrome |
|
Precocious puberty, Abnormal lip morphology, Bifid uvula, Cleft palate, Short palpebral fissure, ... |
ORPHA:2588 |
Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... |
OMIM:300835 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Trisomy 18 |
|
Spina bifida, Anencephaly, Microretrognathia, Iris coloboma, Hypertelorism, Cyclopia, Cryptorchid... |
ORPHA:3380 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased circulating follicle stimulating hormone concentration, Anterior pituitary hypoplasia, ... |
ORPHA:226307 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Sparse lateral eyebrow, Adenoma sebaceum, Delayed eruption of ... |
ORPHA:3353 |
Distal Monosomy 10P |
|
Non-midline cleft lip, Downslanted palpebral fissures, Ectopic anus, Micrognathia, Hypoplasia of ... |
ORPHA:1580 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Bifid scrotum, Abnormal male ... |
ORPHA:2138 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Decreased testicular size, High palate, Hypoplasia of the maxilla, Cryptorchidism |
ORPHA:85279 |
Blepharonasofacial Malformation Syndrome |
|
Non-midline cleft lip, Sparse lateral eyebrow, Long philtrum, Epicanthus, Blepharophimosis, Tooth... |
ORPHA:1252 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve... |
OMIM:613986 |
Developmental And Epileptic Encephalopathy 66 |
|
Downslanted palpebral fissures, Macrodontia of permanent maxillary central incisor, Wide mouth, W... |
OMIM:618067 |
X-Linked Intellectual Disability, Abidi Type |
|
Decreased testicular size, Non-midline cleft lip, Cleft palate |
ORPHA:85273 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:277180 |
Acrodysostosis |
|
Irregular menstruation, Abnormality of female external genitalia, Mandibular prognathia, Hypogona... |
ORPHA:950 |
Ovarian Fibroma |
|
Odontogenic keratocysts of the jaw, Abnormality of the ovary, Ovarian fibroma, Gonadal calcification |
ORPHA:314473 |
Holoprosencephaly |
|
Spinal dysraphism, Deeply set eye, Branchial anomaly, Encephalocele, Anterior hypopituitarism, Hy... |
ORPHA:2162 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
Hepatic Adenomas, Familial |
|
Polycystic ovaries, Maturity-onset diabetes of the young |
OMIM:142330 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Aromatase Deficiency |
|
Primary amenorrhea, Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes me... |
ORPHA:91 |
Tetragametic Chimerism |
|
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin... |
ORPHA:199310 |
Lujan-Fryns Syndrome |
|
Macroorchidism, High palate, Micrognathia, Short philtrum, Hypoplasia of the maxilla, Dental crow... |
ORPHA:776 |
Hemochromatosis, Type 3 |
|
Anemia, Neutropenia, Lymphopenia |
OMIM:604250 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Cleft upper lip, Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypogonadism, Cleft palate,... |
OMIM:244200 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Decreased testicular size, Cleft lip, Hypogonadotropic hypogonadism, Cleft palate, Micropenis |
OMIM:614838 |
Premature Ovarian Failure 1 |
|
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency |
OMIM:311360 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Micrognathia, Hypoplastic labia majora, Conical incisor, Cleft palate, Hy... |
OMIM:261540 |
Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Abnormal platelet granules, Giant platelets |
ORPHA:238459 |
Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Pituicytoma |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:251623 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased seru... |
OMIM:618841 |
Teebi Hypertelorism Syndrome 2 |
|
High palate, Delayed eruption of teeth, Microdontia, Everted lower lip vermilion, Thin upper lip ... |
OMIM:619736 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor, Hydrocele testis |
OMIM:620062 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus |
OMIM:277000 |
Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Decreased cirrculating antimullerian hormone circul... |
OMIM:618096 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Microdontia, Hypodontia, Short philtrum, Hypoplasia of the maxilla, Everte... |
OMIM:601499 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia |
OMIM:607676 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
High palate, Epicanthus, Thick lower lip vermilion, Synophrys, Bifid uvula, Submucous cleft hard ... |
OMIM:617412 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Microdontia, Taurodontia, Hypoplastic labia majora, Supernumerary nipple, Bifid uv... |
OMIM:129400 |
6Q25 Microdeletion Syndrome |
|
Downslanted palpebral fissures, High palate, Long philtrum, Epicanthus, External genital hypoplas... |
ORPHA:251056 |
Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased testicular size, Premat... |
OMIM:241080 |
Androgen Insensitivity Syndrome |
|
Labial hypoplasia, Elevated circulating luteinizing hormone level, Blind vagina, Primary amenorrh... |
OMIM:300068 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Cleft upper lip, Delayed puberty, Tooth agenesis, Cryptorchidism, Primary amenorrhea, Hypogonadot... |
OMIM:147950 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Elevated serum 11-deoxycortisol, Adrenogenital syndrome, Increased serum testosterone level, Decr... |
OMIM:202010 |
Meckel Syndrome 12 |
|
Micrognathia, Bifid uvula, Antecubital pterygium, Vaginal atresia, Hypoplasia of the uterus |
OMIM:616258 |
Amed Syndrome, Digenic |
|
Telecanthus, Adrenal hypoplasia, Hypoplasia of the uterus |
OMIM:619151 |
Letterer-Siwe Disease |
|
Anemia, Irritability, Hepatosplenomegaly, Thrombocytopenia, Neutropenia |
OMIM:246400 |
16P13.11 Microdeletion Syndrome |
|
Cyclopia, Cryptorchidism |
ORPHA:261236 |
Anophthalmia Plus Syndrome |
|
Spina bifida, Anophthalmia |
ORPHA:1104 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
Non-Functioning Pituitary Adenoma |
|
Impotence, Anterior hypopituitarism, Decreased female libido, Adrenal insufficiency, Increased ci... |
ORPHA:91349 |
Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Death in infancy, Bicornuate uterus |
OMIM:268650 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Cowden Syndrome 5 |
|
Hypothyroidism, High palate, Colonic diverticula, Hyperthyroidism, Micrognathia, Thyroiditis, Hyd... |
OMIM:615108 |
Burkitt Lymphoma |
|
Abnormality of the ovary, Intestinal obstruction, Neoplasm of the oral cavity |
ORPHA:543 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Cowden Syndrome 6 |
|
Hypothyroidism, High palate, Colonic diverticula, Hyperthyroidism, Micrognathia, Thyroiditis, Hyd... |
OMIM:615109 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:613546 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Decreased testicular size, Diabetes mellitus, Absence of pubertal development, Cryptorchidism, Pr... |
OMIM:610628 |
Proboscis Lateralis |
|
Abnormal paranasal sinus morphology, Optic disc coloboma, External genital hypoplasia, Abnormal e... |
ORPHA:141099 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... |
ORPHA:169154 |
Myotubular Myopathy With Abnormal Genital Development |
|
Retrognathia, Penile hypospadias, High palate, Bifid scrotum, Death in infancy, Bilateral cryptor... |
OMIM:300219 |
Kallmann Syndrome |
|
Primary amenorrhea, Decreased fertility, Anterior hypopituitarism, Decreased testicular size, Hyp... |
ORPHA:478 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Proptosis |
ORPHA:2776 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
Lowry-Maclean Syndrome |
|
Retrognathia, Talon cusp, Midgut malrotation, Downslanted palpebral fissures, Delayed eruption of... |
ORPHA:2409 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune hemoly... |
OMIM:619220 |
Liang-Wang Syndrome |
|
Downslanted palpebral fissures, Macrodontia of permanent maxillary central incisor, Wide mouth, S... |
OMIM:618729 |
Ring Chromosome 22 Syndrome |
|
Epicanthus, Azoospermia, Protruding tongue, Thick eyebrow, Thick vermilion border |
ORPHA:1446 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Irregular menstruation, Isosexual precocious puberty, Ambiguous genitalia, Premature thelarche, P... |
ORPHA:90795 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ... |
OMIM:618986 |
Post-Traumatic Pituitary Deficiency |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Decreased circu... |
ORPHA:95619 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Acute lymphoblastic leukemia, ... |
ORPHA:158057 |
Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Neutropenia, Splenomegaly |
OMIM:615387 |
Abruzzo-Erickson Syndrome |
|
Epicanthus, Hypospadias, Abnormal palate morphology, Cryptorchidism, Malar flattening, Coronal hy... |
ORPHA:921 |
Familial Glucocorticoid Deficiency |
|
Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Testicular ad... |
ORPHA:361 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Short upper lip, Mandibular prognathia, Narrow palate, Macrodontia of permanent maxillary central... |
ORPHA:364028 |
H Syndrome |
|
Cleft upper lip, Abnormal eyebrow morphology, Hypogonadism, Decreased testicular size, Malabsorpt... |
ORPHA:168569 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent cir... |
OMIM:619705 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Sparse eyebrow, Long philtrum, Epicanthus, Hypodontia, Pyloric stenosis, Hypoplastic labia majora... |
OMIM:618419 |
Rothmund-Thomson Syndrome, Type 2 |
|
Sparse eyebrow, Mandibular prognathia, High palate, Hypogonadism, Delayed eruption of teeth, Epic... |
OMIM:268400 |
Genitopalatocardiac Syndrome |
|
Cleft upper lip, Gonadal dysgenesis, male, Micrognathia, Hypospadias, Cleft palate |
OMIM:231060 |
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Widely-spaced incisors, Synophrys, Hypoplasia of the maxilla, Thin upper lip vermilion, Smooth ph... |
OMIM:618737 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
46,Xx Gonadal Dysgenesis |
|
Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Secondary amenorrhea, Premat... |
ORPHA:243 |
Axenfeld-Rieger Syndrome |
|
Microdontia, Hypodontia, Hypoplasia of the maxilla, Everted lower lip vermilion, Hypospadias, Abn... |
ORPHA:782 |
Polyembryoma |
|
Irregular menstruation, Macroorchidism, Isosexual precocious puberty, Increased serum testosteron... |
ORPHA:180229 |
Acromesomelic Dysplasia 3 |
|
Elevated circulating luteinizing hormone level, Hypergonadotropic hypogonadism, Primary amenorrhe... |
OMIM:609441 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
Idiopathic Aplastic Anemia |
|
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia |
ORPHA:88 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormal nasolacrimal system morphology, Abnormal eyebrow morphology, Abnormal eyelid morphology,... |
ORPHA:3220 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Aplastic anemia, Neutropenia, Sp... |
OMIM:308240 |
Hydrolethalus |
|
Microphthalmia, Anencephaly, Arrhinencephaly, Anophthalmia |
ORPHA:2189 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... |
ORPHA:486 |
Specific Granule Deficiency 2 |
|
Thrombocytopenia, Neutropenia, Absent neutrophil specific granules, Anemia |
OMIM:617475 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Downslanted palpebral fissures, Micrognathia, Unilateral cryptorchidism, Sparse eyelashes, Cleft ... |
OMIM:300946 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism, Tooth agenesis, High palate, Cleft palate |
ORPHA:1135 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Azoospermia, Hypogonadism |
OMIM:615234 |
Osteolysis Syndrome, Recessive |
|
Hypoplasia of the maxilla, Proptosis |
OMIM:259610 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:66628 |
Autosomal Dominant Robinow Syndrome |
|
Bifid tongue, Epicanthus, Micrognathia, Hypoplastic labia majora, Gingival overgrowth, Hypoplasti... |
ORPHA:3107 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Neutropenia, Anemia |
ORPHA:289916 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation, Anophthalmia |
ORPHA:3378 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia |
OMIM:617056 |
Matthew-Wood Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Anophthalmia |
ORPHA:2470 |
Prolactinoma |
|
Impotence, Anterior hypopituitarism, Decreased female libido, Secondary growth hormone deficiency... |
ORPHA:2965 |
Acrofacial Dysostosis, Palagonia Type |
|
Abnormal eyelid morphology, Sparse lateral eyebrow, Micrognathia, Oligodontia, Thin eyebrow, Supe... |
ORPHA:1787 |
Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Frontal encephalocele, Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Microphthalmia |
ORPHA:324416 |
Nablus Mask-Like Facial Syndrome |
|
Retrognathia, Short palpebral fissure, Sparse eyebrow, High palate, Long philtrum, Blepharophimos... |
OMIM:608156 |
Omodysplasia 2 |
|
Long philtrum, Bilateral cleft lip, Micrognathia, Labial hypoplasia, Clitoral hypoplasia, Tented ... |
OMIM:164745 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Long philtrum, Micrognathia, Short philtrum, Long palpebral fissure, Narro... |
ORPHA:439822 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
High palate, Microdontia, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Microglossi... |
ORPHA:1307 |
Frasier Syndrome |
|
Gonadoblastoma, Decreased serum estradiol, Ambiguous genitalia, male, Increased circulating gonad... |
ORPHA:347 |
Intellectual Disability, Birk-Barel Type |
|
Incisor macrodontia, Micrognathia, Short philtrum, Highly arched eyebrow, Tongue fasciculations, ... |
ORPHA:166108 |
Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... |
OMIM:169400 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Irregular menstruation, Precocious puberty, Hyperthyroidism, Abnormal testis morphology, Abnormal... |
ORPHA:457059 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Crowded maxillary incisors, Blepharophimosis, Hypoplasia of the maxilla, P... |
ORPHA:397973 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:616171 |
Johnson Neuroectodermal Syndrome |
|
Retrognathia, Decreased testicular size, Absent eyelashes, Carious teeth, Absent eyebrow, Hypogon... |
OMIM:147770 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Thrombocytopenia, Neutropenia, Splenomegaly, Anemia |
ORPHA:79312 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:179494 |
Bartsocas-Papas Syndrome |
|
Ambiguous genitalia, Aplasia/Hypoplasia of the eyebrow, Ankyloblepharon, Micrognathia, Median cle... |
ORPHA:1234 |
Cowden Syndrome 1 |
|
Hypothyroidism, High palate, Colonic diverticula, Hyperthyroidism, Micrognathia, Thyroiditis, Hyd... |
OMIM:158350 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hyperinsulinemia, Mandibular prognathia, Overgrowth of external ge... |
ORPHA:528 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Autoimmune hemolytic anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, ... |
OMIM:301078 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Decreased fertility, Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothal... |
ORPHA:2235 |
Treacher-Collins Syndrome |
|
Blepharospasm, Hypoplasia of the thymus, Micrognathia, Thyroid hypoplasia, Tooth agenesis, Cleft ... |
ORPHA:861 |
Griscelli Syndrome Type 2 |
|
Neutropenia, Hemophagocytosis, Splenomegaly, Pancytopenia |
ORPHA:79477 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Short palpebral fissure, Dental malocclusion, Downslanted palpebral fissures, Macrodontia of perm... |
OMIM:257850 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormal testis morphology, Incr... |
ORPHA:1227 |
Acrootoocular Syndrome |
|
Dental malocclusion, Downslanted palpebral fissures, Decreased response to growth hormone stimula... |
ORPHA:2980 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Micrognathia, Hypoplastic labia majora, Sparse eyelashes, Gingival ove... |
OMIM:209885 |
Cat-Eye Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:195 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Orofaciodigital Syndrome I |
|
Pancreatic cysts, Enamel hypoplasia, Lobulated tongue, Cleft upper lip, Bifid tongue, High palate... |
OMIM:311200 |
Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... |
ORPHA:98754 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Diamond-Blackfan Anemia 11 |
|
Anemia, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Cleft mandible, Pierre-Robin sequence, High palate, Micrognathia, Cleft lower alveolar ridge, Bif... |
OMIM:268305 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Transcobalamin Ii Deficiency |
|
Reticulocytopenia, Irritability, Pancytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia |
OMIM:275350 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Long philtrum, Absent lacrimal punctum, Absent eyelashes, Microretrognathia, Hypoplasia of the ma... |
ORPHA:228396 |
Autosomal Recessive Robinow Syndrome |
|
Bifid tongue, Ectopic anus, Epicanthus, Micrognathia, Gingival overgrowth, Orofacial cleft, Hypop... |
ORPHA:1507 |
Aggressive Systemic Mastocytosis |
|
Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Increased proportion of CD25+ mast cells... |
ORPHA:98850 |
Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Epicanthus, Decreased circulating T4 concentration, P... |
ORPHA:398073 |
Trisomy 8Q |
|
Non-midline cleft lip, Bifid tongue, High palate, Micrognathia, Hypoplasia of penis, Abnormal ora... |
ORPHA:1752 |
Cofs Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1466 |
Orofaciodigital Syndrome Type 5 |
|
Enamel hypoplasia, Non-midline cleft lip, Abnormality of the philtrum, Bifid tongue, Cleft soft p... |
ORPHA:2919 |
Limb-Mammary Syndrome |
|
Sparse eyebrow, Aplasia of the ovary, Absent lacrimal punctum, Hypodontia, Absent nipple, Bifid u... |
ORPHA:69085 |
Cohen Syndrome |
|
Downslanted palpebral fissures, Aplasia/Hypoplasia of the tongue, Abnormal eyelid morphology, Hig... |
ORPHA:193 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the vagina, Aplasia of the fallopian tube, Aplasia of the uterus, Primary amenorrhea, ... |
OMIM:158330 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... |
ORPHA:35858 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Irregular menstruation, Dental malocclusion, Mandibular prognathia, Elevated circulating thyroid-... |
OMIM:101800 |
Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea |
OMIM:616946 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Fibrous syngnathia, Non-midline cleft lip, Ambiguous genitalia, Lip pit, Bifid scrotum, Ankyloble... |
ORPHA:1300 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Upslanted palpebral fissure, Mandibular prognathia, High palate, Decreased testicular size, Micro... |
OMIM:300534 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Thrombocytopenia, Neutropenia, Macrothrombocytopenia |
OMIM:603585 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... |
ORPHA:177901 |
Fanconi Anemia |
|
Abnormal testis morphology, Epicanthus, Micrognathia, Cleft palate, Aplasia/Hypoplasia of the uvu... |
ORPHA:84 |
Immunodeficiency 102 |
|
Leukopenia, Anemia, Reduced natural killer cell count, B lymphocytopenia, Neutropenia in presence... |
OMIM:301082 |
Holoprosencephaly 2 |
|
Iris coloboma, Aplasia of the premaxilla, Remnants of the hyaloid vascular system, Cyclopia, Prop... |
OMIM:157170 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Prader-Willi Syndrome |
|
Central hypothyroidism, Precocious puberty, Hypoplastic labia majora, Small pituitary gland, Prim... |
ORPHA:739 |
Mandibulofacial Dysostosis With Alopecia |
|
Lower eyelid coloboma, Delayed eruption of primary teeth, Glossoptosis, Micrognathia, Dental crow... |
OMIM:616367 |
Amelogenesis Imperfecta |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... |
ORPHA:88661 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... |
ORPHA:98793 |
Split-Hand/Foot Malformation 3 |
|
High palate, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Cleft palate |
OMIM:246560 |
Congenital Disorder Of Glycosylation, Type 2V |
|
Retrognathia, Downslanted palpebral fissures, High palate, Epicanthus, Short philtrum, Hydrocele ... |
OMIM:619493 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
Craniofacial-Deafness-Hand Syndrome |
|
Downslanted palpebral fissures, Blepharophimosis, Hypoplasia of the maxilla, Narrow mouth, Lacrim... |
ORPHA:1529 |
Nager Syndrome |
|
Non-midline cleft lip, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Wide mo... |
ORPHA:245 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Irregular menstruation, Retrognathia, Absent eyelashes, Supernumerary nipple, Absent eyebrow |
ORPHA:1809 |
Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... |
ORPHA:177904 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Retrognathia, Cleft soft palate, Bifid uvula, Bifid uterus, Cleft palate, Unilateral cleft lip |
ORPHA:2736 |
Genitopalatocardiac Syndrome |
|
Non-midline cleft lip, Downslanted palpebral fissures, Gonadal dysgenesis, male, Micrognathia, Hy... |
ORPHA:2075 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Microdontia, Hypoplasia of the maxilla, Tooth agenesis, Cleft palate, Open... |
ORPHA:1248 |
Congenital Enterovirus Infection |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Irritability, Leukocytosis, Thrombocytopenia,... |
ORPHA:292 |
Hypoplasminogenemia |
|
Abnormal fallopian tube morphology, Gingivitis, Duodenal ulcer, Periodontitis, Gingival overgrowt... |
ORPHA:722 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
Pituitary Gigantism |
|
Increased circulating prolactin concentration, Mandibular prognathia, Type II diabetes mellitus, ... |
ORPHA:99725 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Non-Syndromic Posterior Hypospadias |
|
Bifid scrotum, Esophageal atresia, Androgen insufficiency, Urethral diverticulum, Ventral shorten... |
ORPHA:95706 |
Ohdo Syndrome, Sbbys Variant |
|
Hypothyroidism, Blepharophimosis, Micrognathia, Microdontia, Thin upper lip vermilion, Hypospadia... |
OMIM:603736 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Bosma Arhinia Microphthalmia Syndrome |
|
Primary amenorrhea, Paranasal sinus hypoplasia, Dental malocclusion, High palate, Synophrys, Hypo... |
OMIM:603457 |
Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Increased... |
OMIM:601859 |
20P12.3 Microdeletion Syndrome |
|
Downslanted palpebral fissures, Long philtrum, Epicanthus, Hypoplasia of the maxilla, Narrow mout... |
ORPHA:261295 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia, Anxiety |
OMIM:266265 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Dental malocclusion, Short palpebral fissure, High palate, Bifid scrotum, Ep... |
OMIM:615546 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Decreased testicular size, Breast aplasia, Type I diabetes mellitus, Hypop... |
ORPHA:3044 |
Cohen Syndrome |
|
Downslanted palpebral fissures, Decreased response to growth hormone stimulation test, Macrodonti... |
OMIM:216550 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Macroorchidism, High palate, Deep philtrum, Micrognathia, Short philtrum, Hypoplasia of the maxil... |
OMIM:309520 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Non-midline cleft lip, Abnormality of the philtrum, Downslanted palpebral fissures, Epicanthus, P... |
ORPHA:1770 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea... |
ORPHA:90794 |
Johnson Neuroectodermal Syndrome |
|
Downslanted palpebral fissures, Hypogonadism, Absent eyelashes, Everted lower lip vermilion, Abse... |
ORPHA:2316 |
Bone Marrow Failure Syndrome 5 |
|
Oral leukoplakia, Testicular atrophy, Hypogonadism |
OMIM:618165 |
Hypomandibular Faciocranial Dysostosis |
|
Downslanted palpebral fissures, Aplasia/Hypoplasia of the tongue, Death in infancy, Bifid uvula, ... |
ORPHA:1790 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Iris coloboma, Cyclopia, Hypotelorism |
ORPHA:3186 |
Pituitary Stalk Interruption Syndrome |
|
Hypothyroidism, Diabetes insipidus, Death in infancy, Hypoplasia of penis, Ectopic posterior pitu... |
ORPHA:95496 |
Akt2-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet... |
ORPHA:79085 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Ectopic lacrimal punctum, Sparse eyebrow, Lipomas of eyelids, Absent lacrimal punctum, Hypoplasia... |
OMIM:167730 |
Frasier Syndrome |
|
Male pseudohermaphroditism, Gonadal dysgenesis, Ovarian gonadoblastoma, Primary amenorrhea |
OMIM:136680 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Widely-spaced incisors, Oligodontia, Conical mandibular incisor, Discolored lateral incisors |
OMIM:601668 |
1Q41Q42 Microdeletion Syndrome |
|
Submucous cleft hard palate, Hypergonadotropic hypogonadism, Cryptorchidism, Upslanted palpebral ... |
ORPHA:250999 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microphthalmos, Optic nerve hyp... |
ORPHA:137902 |
Hartsfield Syndrome |
|
Microphthalmia, Encephalocele, Intrauterine growth retardation |
ORPHA:2117 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Intestinal malrotation, Testicular atrophy |
OMIM:601163 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Hypothyroidism, Abnormality of the scrotum, Microphallus, Bifid scrotum, Micrognathia, Hypospadia... |
ORPHA:397590 |
Lipodystrophy, Familial Partial, Type 3 |
|
Primary amenorrhea, Hyperinsulinemia, Type II diabetes mellitus, Maternal diabetes, Polycystic ov... |
OMIM:604367 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Neutropenia, Irritability |
OMIM:618253 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia |
OMIM:619752 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytop... |
OMIM:304790 |
Frontonasal Dysplasia 1 |
|
Hypoplastic frontal sinuses, Epicanthus, Median cleft lip, Hypoplasia of the maxilla, Ptosis, Wid... |
OMIM:136760 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Small scrotum, Widely spaced teeth, Blepharophimosis, Microdontia, Ptosis, Cryptorchidism, Cleft ... |
ORPHA:2728 |
Crouzon Syndrome |
|
Conjunctivitis, Mandibular prognathia, High palate, Hypoplasia of the maxilla, Dental crowding, S... |
OMIM:123500 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Synophrys, Narrow palpebral fissure, Broad eyebrow |
OMIM:618302 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
T lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Pancytopenia, Autoimmune... |
ORPHA:572 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Cleft upper lip, Increased serum testosterone level, Hydrocele testis, Congenital adrenal hyperpl... |
ORPHA:96181 |
Branchioskeletogenital Syndrome |
|
Synophrys, Bifid uvula, Telecanthus, Absent nipple, Premature loss of teeth, Rootless teeth, Cari... |
ORPHA:1299 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... |
OMIM:608203 |
Culler-Jones Syndrome |
|
Diabetes insipidus, Cleft upper lip, Anterior pituitary hypoplasia, Hypogonadism, Hypopituitarism... |
OMIM:615849 |
Luscan-Lumish Syndrome |
|
Irregular menstruation, Downslanted palpebral fissures, Mandibular prognathia, Polycystic ovaries... |
OMIM:616831 |
Premature Ovarian Failure 2A |
|
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Elevate... |
OMIM:300511 |
Hallermann-Streiff Syndrome |
|
Hypothyroidism, Telecanthus, Sparse eyebrow, Sparse eyelashes, Natal tooth, Micrognathia, Supernu... |
ORPHA:2108 |
Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Increased circulating prolactin concentration, Precocious puberty, Decreased response to growth h... |
ORPHA:91354 |
Joubert Syndrome 22 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:615665 |
Cockayne Syndrome Type 2 |
|
Intrauterine growth retardation, Anophthalmia |
ORPHA:90322 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Epicanthus, Absence of labia majora, Micrognathia, Cleft palate, Abnormality of the tongue, Telec... |
ORPHA:2990 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Widely spaced teeth, Microdontia, Oligodontia, Hypoplasia of the maxilla, ... |
OMIM:601216 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Azoospermia, Abnormality of the hypothalamus... |
ORPHA:300298 |
Martsolf Syndrome 1 |
|
Downslanted palpebral fissures, High palate, Long philtrum, Epicanthus, Micrognathia, Short philt... |
OMIM:212720 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Selective tooth agenesis, Microdontia, Sparse eyelashes, Cleft palate, Blepharophimosis, Absence ... |
OMIM:604292 |
Hallermann-Streiff Syndrome |
|
Dental malocclusion, Downslanted palpebral fissures, Sparse eyebrow, Narrow palate, High palate, ... |
OMIM:234100 |
Boucher-Neuhauser Syndrome |
|
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration |
OMIM:215470 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Neutropenia, Anisopoikilocytosis |
OMIM:619835 |
Arthrogryposis, Distal, Type 5D |
|
Lagophthalmos, Tongue atrophy, Micrognathia, Hypoplastic labia majora, Ptosis, Narrow mouth, Furr... |
OMIM:615065 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Retrognathia, Hypothyroidism, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, ... |
ORPHA:1812 |
Bartsocas-Papas Syndrome 1 |
|
Ambiguous genitalia, Micrognathia, Hypoplastic labia majora, Cleft palate, Bicornuate uterus, Ble... |
OMIM:263650 |
Acrofrontofacionasal Dysostosis |
|
Non-midline cleft lip, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, High pa... |
ORPHA:1784 |
Neonatal Lupus Erythematosus |
|
Anemia, Neutropenia, Hemolytic anemia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Splenomegaly |
ORPHA:398124 |
Meier-Gorlin Syndrome 4 |
|
Thick lower lip vermilion, Micrognathia, Hypoplasia of the maxilla, Narrow mouth, Cryptorchidism,... |
OMIM:613804 |
Ovarian Dysgenesis 8 |
|
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplastic labia ma... |
OMIM:618187 |
Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Selective tooth agenesis, Microdontia, Sparse eyelashes, Cleft palate, Telecanthus, Blepharophimo... |
OMIM:129900 |
Gapo Syndrome |
|
Sparse eyebrow, Mandibular prognathia, Long philtrum, Hypogonadism, Delayed eruption of teeth, Mi... |
ORPHA:2067 |
Tooth Agenesis, Selective, 3 |
|
Microdontia, Oligodontia, Oligodontia of primary teeth, Agenesis of permanent molar |
OMIM:604625 |
Verloove Vanhorick-Brubakk Syndrome |
|
Non-midline cleft lip, Micrognathia, Cryptorchidism, Abnormality of the parathyroid gland, Cleft ... |
ORPHA:3429 |
Interstitial Cystitis |
|
Abnormality of the menstrual cycle, Abnormal labia morphology, Dyspareunia, Abnormality of the ur... |
ORPHA:37202 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the tongue, High palate, Death in infancy, Epicanthus, Micrognathia, Microd... |
ORPHA:570 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Ambiguous genitalia, Adrenal hyperplasia, Male pseudohermaphroditism, Pri... |
OMIM:202110 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease... |
ORPHA:95699 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental malocclusion, Upslanted palpebral fissure, Cleft soft palate, Calvarial osteosclerosis, Lo... |
OMIM:616331 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Talon cusp, Deep philtrum, Microdontia, Synophrys, Diastema, Cleft palate, Highly arched eyebrow |
OMIM:605282 |
Developmental And Epileptic Encephalopathy 89 |
|
Downslanted palpebral fissures, Sparse eyebrow, Long philtrum, Hypoplastic labia minora, Hypoplas... |
OMIM:619124 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:48431 |
Oculocerebrorenal Syndrome Of Lowe |
|
Gingivitis, Delayed eruption of teeth, Micrognathia, Taurodontia, Everted lower lip vermilion, To... |
ORPHA:534 |
Bloom Syndrome |
|
Retrognathia, Stomach cancer, Premature ovarian insufficiency, Micrognathia, Esophageal neoplasm,... |
ORPHA:125 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:289548 |
Immunodeficiency 14B, Autosomal Recessive |
|
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis |
OMIM:619281 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Oral leukoplakia |
OMIM:613987 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology |
ORPHA:3196 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, Sple... |
ORPHA:158061 |
Mccune-Albright Syndrome |
|
Decreased fertility, Macroorchidism, Increased circulating prolactin concentration, Precocious pu... |
ORPHA:562 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Anal atresia, Anteriorly placed anus, Hypospadias, Hypoplasia of the uterus, Colonic atresia, Ovo... |
OMIM:309801 |
Carpenter Syndrome 1 |
|
Precocious puberty, High palate, Epicanthus, External genital hypoplasia, Micrognathia, Agenesis ... |
OMIM:201000 |
Congenital Toxoplasmosis |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:858 |
Propionic Acidemia |
|
Anemia, Thrombocytopenia, Neutropenia, Pancytopenia |
OMIM:606054 |
Bardet-Biedl Syndrome 1 |
|
High palate, Hypogonadism, Decreased testicular size, Hypodontia, Aganglionic megacolon, Abnormal... |
OMIM:209900 |
Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Micrognathia, Hydrocele testis, Anteriorly displaced urethral meatus |
OMIM:266810 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Thrombocytopenia, Neutropenia, Normochromic anemia |
OMIM:614857 |
Holoprosencephaly 13, X-Linked |
|
Micrognathia, Cyclopia |
OMIM:301043 |
Congenital Factor Vii Deficiency |
|
Ovarian cyst, Gingival bleeding, Menorrhagia |
ORPHA:327 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Dental malocclusion, Short palpebral fissure, High palate, Epicanthus, Bleph... |
OMIM:601390 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Thin vermilion border, Short philtrum, Premature loss of teeth |
OMIM:156510 |
Trichorhinophalangeal Syndrome Type 2 |
|
Long philtrum, Deep philtrum, Aplasia/Hypoplasia of the mandible, Supernumerary tooth, Thin upper... |
ORPHA:502 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Retrognathia, Ptosis, Bilateral cryptorchidism, Macrodontia of permanent maxillary central incisor |
ORPHA:466722 |
Meier-Gorlin Syndrome 5 |
|
Long philtrum, Micrognathia, Submucous cleft hard palate, Hypoplasia of the maxilla, Cryptorchidi... |
OMIM:613805 |
Lead Poisoning |
|
Delayed eruption of teeth, Decreased female libido, Infertility, Decreased circulating osteocalci... |
ORPHA:330015 |
Postaxial Acrofacial Dysostosis |
|
Conical tooth, Midgut malrotation, Cleft upper lip, Downslanted palpebral fissures, Micrognathia,... |
OMIM:263750 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Epicanthus, Micrognathia, Hypoplasia of the maxilla, Accessory oral frenulum, Upslanted palpebral... |
ORPHA:79113 |
Cidec-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet... |
ORPHA:435651 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Retrognathia, Rectal prolapse, Narrow palate, Delayed eruption of teeth, Thyroid lymphangiectasia... |
OMIM:235510 |
Ear-Patella-Short Stature Syndrome |
|
Retrognathia, Mandibular aplasia, Micrognathia, Hypoplastic labia minora, Hypoplastic labia major... |
ORPHA:2554 |
Hypomandibular Faciocranial Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia, Optic disc coloboma, Malar flattening |
OMIM:241310 |
Distal Monosomy 19P13.3 |
|
Short philtrum, Vaginal hernia, Hypoplasia of the maxilla, Cleft palate, Thick eyebrow |
ORPHA:96129 |
Cyclic Neutropenia |
|
Perianal abscess, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, ... |
ORPHA:2686 |
Jackson-Weiss Syndrome |
|
Hypoplasia of the maxilla, Hypertelorism, Mandibular prognathia, Proptosis |
ORPHA:1540 |
Microphthalmia, Syndromic 1 |
|
Cleft upper lip, Tooth malposition, High palate, Agenesis of maxillary lateral incisor, Aganglion... |
OMIM:309800 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Abnormality of the scrotum, Long philtrum, Epicanthus, Micrognathia, Hypospadias, Cryptorchidism,... |
ORPHA:2505 |
Keipert Syndrome |
|
Epicanthus, Hypoplasia of the maxilla, Ptosis, Tented upper lip vermilion, Exaggerated cupid's bow |
ORPHA:2662 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... |
OMIM:226990 |
Nance-Horan Syndrome |
|
Supernumerary maxillary incisor, Screwdriver-shaped incisors, Mulberry molar, Diastema |
OMIM:302350 |
Tricho-Retino-Dento-Digital Syndrome |
|
Oligodontia, Supernumerary tooth, Abnormality of the dentition |
ORPHA:1264 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:251000 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Anencephaly, Microphthalmia |
OMIM:611561 |
Trichorhinophalangeal Syndrome Type 1 And 3 |
|
Sparse eyebrow, High palate, Long philtrum, Micrognathia, Supernumerary tooth, Sparse eyelashes, ... |
ORPHA:77258 |
Lig4 Syndrome |
|
Hypothyroidism, Micropenis, Amenorrhea, Cryptorchidism |
OMIM:606593 |
Intellectual Disability And Myopathy Syndrome |
|
Incisor macrodontia, Dental malocclusion, Thin upper lip vermilion, Widely-spaced maxillary centr... |
OMIM:619719 |
Barth Syndrome |
|
Hypochromic microcytic anemia, Neutropenia, Cyclic neutropenia, Granulocytopenia |
OMIM:302060 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... |
OMIM:607594 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:47 |
3Mc Syndrome 2 |
|
Downslanted palpebral fissures, Cleft upper lip, High palate, Blepharophimosis, Prominence of the... |
OMIM:265050 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Enamel hypoplasia, Abnormality of dental morphology, Supernumerary tooth, Decreased number of swe... |
ORPHA:69087 |
Lipe-Related Familial Partial Lipodystrophy |
|
Abnormal labia majora morphology, Decreased serum leptin, Polycystic ovaries, Decreased adiponect... |
ORPHA:435660 |
Chediak-Higashi Syndrome |
|
Leukopenia, Anemia, Giant neutrophil granules, Hemophagocytosis, Impaired neutrophil bactericidal... |
OMIM:214500 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Epicanthus, Hypodontia, Vaginal hernia, Cleft palate, Macrodontia, Abnorma... |
ORPHA:2916 |
Pgm3-Cdg |
|
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... |
ORPHA:443811 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:899 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility, Mitochondrial hypertrophy |
OMIM:619518 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Sparse lateral eyebrow, Long philtrum, Supernumerary tooth, Thin upper lip vermilion, Smooth phil... |
OMIM:190351 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Ambiguous genitalia, Vesicovaginal fistula, Adrenal insufficiency, Decreased circulating renin le... |
OMIM:201750 |
X-Linked Intellectual Disability, Snyder Type |
|
Sparse eyebrow, Mandibular prognathia, High palate, Thick lower lip vermilion, Synophrys, Dental ... |
ORPHA:3063 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Neutropenia, Anemia |
OMIM:614520 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short palpebral fissure, Enamel hypoplasia, High palate, Hyperthyroidism, Prominent frontal sinus... |
OMIM:170390 |
Dyskeratosis Congenita |
|
Blepharitis, Abnormal eyebrow morphology, Abnormal testis morphology, Periodontitis, Malabsorptio... |
ORPHA:1775 |
Microphthalmia, Syndromic 9 |
|
Bicornuate uterus, Blepharophimosis, Micrognathia, Cryptorchidism, Hypoplasia of the uterus |
OMIM:601186 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:601809 |
Evans Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, Autoimmune thr... |
ORPHA:1959 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Malabsorption, Decreased circulating cortisol level, Primary amenorrhea, Hypogon... |
OMIM:600955 |
Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes insipidus, Testicular atrophy, Diabetes mellitus, Ptosis |
OMIM:222300 |
3Mc Syndrome 3 |
|
Cleft upper lip, Bifid scrotum, Blepharophimosis, Ptosis, Epicanthus inversus, Penoscrotal hyposp... |
OMIM:248340 |
Apert Syndrome |
|
Downslanted palpebral fissures, Mandibular prognathia, Narrow palate, Ectopic anus, Delayed erupt... |
ORPHA:87 |
Lissencephaly 8 |
|
Occipital encephalocele, Microphthalmia |
OMIM:617255 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Neutropenia |
OMIM:620012 |
Familial Afibrinogenemia |
|
Menometrorrhagia, Gingival bleeding, Miscarriage |
ORPHA:98880 |
Acute Promyelocytic Leukemia |
|
Leukopenia, Anemia, Pancytopenia, Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:520 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
Meckel Syndrome, Type 2 |
|
Meningocele, Encephalocele, Anencephaly, Microphthalmia, Intrauterine growth retardation |
OMIM:603194 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the iris, Hypoplasia of the fovea, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Trisomy 1Q |
|
Anophthalmia |
ORPHA:261344 |
Orofaciodigital Syndrome V |
|
Lobulated tongue, Downslanted palpebral fissures, Bifid tongue, High palate, Hypodontia, Ankylogl... |
OMIM:174300 |
Generalized Glucocorticoid Resistance Syndrome |
|
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... |
ORPHA:786 |
Alobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Neural tube defect, Panhypopituitarism, Cy... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Neural tube defect, Panhypopituitarism, Cy... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Neural tube defect, Panhypopituitarism, Cy... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Neural tube defect, Panhypopituitarism, Cy... |
ORPHA:220386 |
Treacher Collins Syndrome 1 |
|
Downslanted palpebral fissures, Lacrimal duct stenosis, Cleft soft palate, Wide mouth, Abnormal p... |
OMIM:154500 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Talon cusp, Tooth malposition, Micrognathia, Microdontia, Hypodontia, Oligodontia, Hypoplasia of ... |
ORPHA:363417 |
Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Infertility, Erectile dysfunction, Testicular atrophy, Diabetes mellitus, Decreas... |
ORPHA:465508 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
Meier-Gorlin Syndrome 1 |
|
Short palpebral fissure, High palate, Shawl scrotum, Death in infancy, Micrognathia, Microdontia,... |
OMIM:224690 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Retrognathia, Downslanted palpebral fissures, Decreased response to growth... |
OMIM:602782 |
Felty Syndrome |
|
Anemia, Thrombocytopenia, Neutropenia, Splenomegaly, Abnormal lymphocyte morphology |
ORPHA:47612 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Vaginal atresia, Hypoplasia of the uterus |
OMIM:617914 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Microdontia, Hypodontia, Abnormal oral frenulum morphology, Epispadias... |
ORPHA:289 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia, Pancytopenia |
ORPHA:2169 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Hypertelorism, Proptosis |
ORPHA:93262 |
Schwartz-Jampel Syndrome |
|
Dental malocclusion, Abnormal eyebrow morphology, High palate, Long philtrum, Blepharospasm, Deat... |
ORPHA:800 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Micrognathia, Proptosis |
OMIM:166300 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Incisor macrodontia, High palate, Epicanthus, Long palpebral fissure, Thin upper lip vermilion, U... |
ORPHA:438216 |
Acrocallosal Syndrome |
|
Everted upper lip vermilion, Epicanthus, Bifid uvula, Abnormal oral frenulum morphology, Smooth p... |
OMIM:200990 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Testicular atrophy, Ptosis, Hypergonadotro... |
OMIM:157640 |
Meier-Gorlin Syndrome 3 |
|
Downslanted palpebral fissures, Micrognathia, Hypoplastic labia minora, Microretrognathia, Hypopl... |
OMIM:613803 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Supernumerary tooth, Hypoplasia o... |
ORPHA:1452 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Spina bifida, Arrhinencephaly, Microphthalmia, Intrauterine growth retardation |
ORPHA:3412 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Neutropenia |
OMIM:613989 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... |
OMIM:603909 |
Impacted Teeth, Multiple |
|
Multiple impacted teeth, Supernumerary tooth |
OMIM:308280 |
Autosomal Agammaglobulinemia |
|
Neutropenia |
ORPHA:33110 |
Holoprosencephaly 14 |
|
Cyclopia |
OMIM:619895 |
Gardner Syndrome |
|
Duodenal polyposis, Odontoma, Prostate cancer, Adrenocortical carcinoma, Neoplasm of the pancreas... |
ORPHA:79665 |
Pparg-Related Familial Partial Lipodystrophy |
|
Primary amenorrhea, Secondary amenorrhea, Maternal diabetes, Diabetes mellitus, Polycystic ovarie... |
ORPHA:79083 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Warburg Micro Syndrome 1 |
|
Microphthalmia |
OMIM:600118 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Proptosis |
ORPHA:90653 |
Trichothiodystrophy 3, Photosensitive |
|
Neutropenia, Lymphopenia |
OMIM:616395 |
Distal Monosomy 3P |
|
High palate, Long philtrum, Epicanthus, Blepharophimosis, Micrognathia, Ptosis, Downturned corner... |
ORPHA:1620 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Carney Complex |
|
Precocious puberty, Esophageal neoplasm, Neoplasm of the pancreas, Oligospermia, Follicular thyro... |
ORPHA:1359 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypogonadism, External genital hypoplasia, Bifid uvula, Hypoplasia of penis, Submucous cleft hard... |
ORPHA:2250 |
Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Dental malocclusion, Macrodontia of permanent maxillary central incisor, Taurodon... |
OMIM:616202 |
Pierpont Syndrome |
|
Microphthalmia |
OMIM:602342 |
Opitz Gbbb Syndrome |
|
Cleft upper lip, High palate, Congenital posterior urethral valve, Anal atresia, Solitary median ... |
OMIM:300000 |
Methylmalonic Aciduria, Cblb Type |
|
Anemia, Thrombocytopenia, Neutropenia, Pancytopenia |
OMIM:251110 |
Saethre-Chotzen Syndrome |
|
Blepharospasm, Narrow palate, Epicanthus, Hypoplasia of the maxilla, Ptosis, Cryptorchidism, Clef... |
ORPHA:794 |
Smith-Lemli-Opitz Syndrome |
|
Ambiguous genitalia, Bifid tongue, Epicanthus, Micrognathia, Tooth agenesis, Abnormal eyelash mor... |
ORPHA:818 |
Isolated Cleft Lip |
|
Supernumerary maxillary incisor, Non-midline cleft lip, Bilateral cleft lip, Hypodontia, Velophar... |
ORPHA:199302 |
Tetraamelia Syndrome 2 |
|
Bilateral cleft lip, Micrognathia, Ankyloglossia, Absent nipple, Microretrognathia, Micropenis, C... |
OMIM:618021 |
Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, Abnormality of... |
ORPHA:65681 |
Distal Monosomy 12Q |
|
Downslanted palpebral fissures, Long philtrum, Esophageal atresia, Micrognathia, Pyloric stenosis... |
ORPHA:96149 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Coffin-Lowry Syndrome |
|
Downslanted palpebral fissures, Narrow palate, High palate, Wide mouth, Delayed eruption of teeth... |
ORPHA:192 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia |
OMIM:613155 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation |
ORPHA:290 |
Orofaciodigital Syndrome Xiv |
|
Lobulated tongue, Bifid tongue, Natal tooth, Micrognathia, Supernumerary tooth, Epispadias, Micro... |
OMIM:615948 |
Gray Platelet Syndrome |
|
Abnormality of the menstrual cycle |
ORPHA:721 |
Microphthalmia, Syndromic 2 |
|
Dental malocclusion, Hypothyroidism, Laterally curved eyebrow, Long philtrum, Delayed eruption of... |
OMIM:300166 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Hyperpitui... |
ORPHA:91351 |
Pituitary Adenoma 1, Multiple Types |
|
Irregular menstruation, Increased circulating prolactin concentration, Pituitary adenoma, Prolact... |
OMIM:102200 |
Cerebellar-Facial-Dental Syndrome |
|
Dental malocclusion, S-shaped palpebral fissures, Sparse eyebrow, Macrodontia of permanent maxill... |
ORPHA:444072 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Autosomal Dominant Cerebellar Ataxia |
|
Tongue fasciculations, Ptosis, Azoospermia, Tongue atrophy |
ORPHA:99 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Downslanted palpebral fissures, Epicanthus, Hypodontia, Hydrometrocolpos, Supernumerary tooth, Ap... |
OMIM:617088 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia |
OMIM:613730 |
Rothmund-Thomson Syndrome |
|
Sparse eyebrow, Delayed eruption of teeth, Selective tooth agenesis, Microdontia, Infertility, Su... |
ORPHA:2909 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
Pycnodysostosis |
|
Dental malocclusion, Obtuse angle of mandible, Enamel hypoplasia, Decreased response to growth ho... |
ORPHA:763 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:610756 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Supernumerary tooth, Abnormality of the dentition |
ORPHA:627 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
Denys-Drash Syndrome |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, fema... |
OMIM:194080 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Immunodeficiency 55 |
|
Neutropenia, Absent natural killer cells, Lymphopenia |
OMIM:617827 |
Distal Xq28 Microduplication Syndrome |
|
Hypothyroidism, Aplasia/Hypoplasia of the eyebrow, High palate, Upper eyelid edema, Short lingual... |
ORPHA:293939 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Impotence, Decreased female libido, Euthyroid hyperthyroxinemia, Increa... |
ORPHA:91347 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
Schimke Immunoosseous Dysplasia |
|
Anemia, Abnormal T cell morphology, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:242900 |
Cdags Syndrome |
|
Sparse eyebrow, Anal atresia, Ptosis, Hypospadias, Ectropion, Malar flattening, Sparse eyelashes,... |
OMIM:603116 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... |
ORPHA:90301 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Orofaciodigital Syndrome Type 14 |
|
Lobulated tongue, Bifid tongue, Bilateral cryptorchidism, Supernumerary tooth, Microretrognathia,... |
ORPHA:434179 |
Methylmalonic Aciduria, Cbla Type |
|
Anemia, Thrombocytopenia, Neutropenia, Pancytopenia |
OMIM:251100 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Neurofaciodigitorenal Syndrome |
|
Abnormality of the philtrum, Downslanted palpebral fissures, Mandibular prognathia, Hypoplasia of... |
ORPHA:2673 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Neck pterygia, Gonadoblastoma, Epicanthus, Micrognathia, Increased circulating gonadotropin level... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Neck pterygia, Gonadoblastoma, Epicanthus, Micrognathia, Increased circulating gonadotropin level... |
ORPHA:99228 |
Monosomy X |
|
Neck pterygia, Gonadoblastoma, Epicanthus, Micrognathia, Increased circulating gonadotropin level... |
ORPHA:99226 |
Turner Syndrome |
|
Neck pterygia, Gonadoblastoma, Epicanthus, Micrognathia, Increased circulating gonadotropin level... |
ORPHA:881 |
Frontorhiny |
|
Diabetes insipidus, Bifid tongue, Hypoplastic frontal sinuses, Epicanthus, Hypopituitarism, Hypop... |
ORPHA:391474 |
Necrotizing Enterocolitis |
|
Thrombocytopenia, Neutropenia, Leukocytosis |
ORPHA:391673 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, Splenomegaly |
ORPHA:540 |
Marshall Syndrome |
|
Thick upper lip vermilion, Sparse eyebrow, High palate, Long philtrum, Hypoplastic frontal sinuse... |
ORPHA:560 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Hypoplasia of the maxilla, Mandibular prognathia, High palate |
OMIM:300676 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Long philtrum, Hypoplasia of the maxilla, Abnormal size of the palpebral f... |
ORPHA:1101 |
Aspergillosis |
|
Neutropenia, Eosinophilia |
ORPHA:1163 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1438 |
Cerebrofacioarticular Syndrome |
|
Irregular dentition, Epicanthus, Blepharophimosis, Micrognathia, Hypoplasia of the maxilla, Anter... |
ORPHA:314679 |
Crouzon Syndrome |
|
Hypoplasia of the maxilla, Iris coloboma, Hypertelorism, Proptosis |
ORPHA:207 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Malar flattening, Hypertelorism, Proptosis |
OMIM:109120 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Ptosis, Hypoparathyroidism, Primary amenorrhea, Septate vagina, Aplasia of... |
OMIM:146255 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla, Deeply set eye |
OMIM:608154 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Dental malocclusion, Downslanted palpebral fissures, Narrow palate, High palate, Micrognathia, Sh... |
OMIM:182212 |
Meckel Syndrome, Type 4 |
|
Meningocele, Encephalocele, Anencephaly, Microphthalmia, Intrauterine growth retardation |
OMIM:611134 |
Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Pancytopenia, He... |
ORPHA:158048 |
Primary Ciliary Dyskinesia |
|
Abnormal sperm motility, Chronic sinusitis, Intestinal malrotation, Female infertility, Male infe... |
ORPHA:244 |
3-Methylglutaconic Aciduria Type 7 |
|
Neutropenia, Infection associated neutropenia |
ORPHA:445038 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:508542 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Conical incisor, Enamel hypoplasia, Carious teeth, Sparse lateral eyebrow |
OMIM:614564 |
Schimke Immuno-Osseous Dysplasia |
|
Anemia, Lymphopenia, Decreased proportion of naive CD8 T cells, Thrombocytopenia, Neutropenia, Ab... |
ORPHA:1830 |
Acrofacial Dysostosis, Cincinnati Type |
|
Retrognathia, Downslanted palpebral fissures, Micrognathia, Ablepharon, Hypoplasia of the maxilla... |
OMIM:616462 |
Immunodeficiency 23 |
|
Hemolytic anemia, Lymphopenia, Eosinophilia, Neutropenia, Abscess |
OMIM:615816 |
Autosomal Dominant Keratitis |
|
Macular hypoplasia, Hypoplastic iris stroma, Hypoplasia of the fovea, Bilateral microphthalmos, A... |
ORPHA:2334 |
Joubert Syndrome 21 |
|
Occipital encephalocele, Anophthalmia |
OMIM:615636 |
Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Reduced sperm motility, Epididyma... |
OMIM:137920 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:93267 |
Ablepharon Macrostomia Syndrome |
|
Ambiguous genitalia, Abnormality of female external genitalia, Cryptophthalmos, Wide mouth, Absen... |
ORPHA:920 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Cleft upper lip, Decreased response to growth hormone stimulation test, High palate, Shawl scrotu... |
OMIM:213980 |
Chromosome 17Q12 Deletion Syndrome |
|
Unicornuate uterus, Retrognathia, Downslanted palpebral fissures, Mandibular prognathia, High pal... |
OMIM:614527 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyebrow, Conical primary incisor, Curly eyelashes, Sparse eyelashes, Blepharitis |
OMIM:602400 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hem... |
OMIM:614700 |
Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Impaired neutrophil... |
ORPHA:811 |
Bresek Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Optic nerve hypoplasia |
ORPHA:85284 |
Orofaciodigital Syndrome Iii |
|
Bifid tongue, Tongue nodules, Microdontia, Bifid uvula, Supernumerary tooth |
OMIM:258850 |
Microphthalmia With Limb Anomalies |
|
Cleft upper lip, Abnormal eyebrow morphology, High palate, Long philtrum, Hypoplasia of the prema... |
ORPHA:1106 |
Fanconi Anemia, Complementation Group E |
|
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:600901 |
Seckel Syndrome 2 |
|
Microphthalmia |
OMIM:606744 |
Native American Myopathy |
|
Downslanted palpebral fissures, High palate, Bilateral ptosis, Micrognathia, Bifid uvula, Submuco... |
ORPHA:168572 |
Duplication Of The Pituitary Gland |
|
Retrognathia, Wide mouth, Abnormality of the tongue, Volvulus, Supernumerary tooth, Cleft palate,... |
ORPHA:314621 |
Renal Agenesis, Bilateral |
|
Non-midline cleft lip, Epicanthus, Tracheoesophageal fistula, Abnormal intestine morphology, Clef... |
ORPHA:1848 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:300863 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Hypohidrotic Ectodermal Dysplasia |
|
Aplasia/Hypoplasia of the eyebrow, Abnormality of dental morphology, Keratoconjunctivitis sicca, ... |
ORPHA:238468 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Anemia, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:277380 |
X-Linked Intellectual Disability, Porteous Type |
|
Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:93945 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Microphthalmia, Aniridia, Congenital aphakia |
OMIM:610256 |
Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased serum testosterone level, Increased circulating cortisol level,... |
OMIM:615962 |
Pilodental Dysplasia With Refractive Errors |
|
Conical incisor, Hypodontia |
OMIM:262020 |
Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Abs... |
OMIM:608233 |
Holoprosencephaly 1 |
|
Micropenis, Cyclopia, Hypotelorism |
OMIM:236100 |
Cartilage-Hair Hypoplasia |
|
Anemia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemi... |
OMIM:250250 |
Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Anemia, Thrombocytopenia, Neutropenia, Splenomegaly |
OMIM:617303 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... |
OMIM:260400 |
Fanconi Anemia, Complementation Group I |
|
Neutropenia |
OMIM:609053 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Rubinstein-Taybi Syndrome 1 |
|
Premature thelarche, Epicanthus, Micrognathia, Broad eyebrow, Smooth philtrum, Cleft palate, Thic... |
OMIM:180849 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conical tooth, Non-midline cleft lip, Sparse eyebrow, Absent lacrimal punctum, Delayed eruption o... |
ORPHA:1071 |
Fanconi Anemia, Complementation Group A |
|
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:227650 |
Microphthalmia, Syndromic 3 |
|
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia |
OMIM:206900 |
Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612562 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Downslanted palpebral fissures, High palate, Long philtrum, Broad eyebrow, Hypoplasia of the maxi... |
ORPHA:481152 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Erythroid hypoplasia, Hepatosplen... |
OMIM:612541 |
Pontocerebellar Hypoplasia Type 7 |
|
Thick upper lip vermilion, Ambiguous genitalia, High palate, Absent penis, Microphallus, Epicanth... |
ORPHA:284339 |
Shprintzen-Goldberg Syndrome |
|
Retrognathia, Downslanted palpebral fissures, Micrognathia, Hypoplasia of the maxilla, Ptosis, Cr... |
ORPHA:2462 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Hypoplasia of the maxilla, Ptosis, High palate |
OMIM:218000 |
Microcephaly-Capillary Malformation Syndrome |
|
Hypoplasia of the maxilla, Cleft palate, Ptosis |
OMIM:614261 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:616271 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Andersen-Tawil Syndrome |
|
Short palpebral fissure, Hyperaldosteronism, High palate, Micrognathia, Oligodontia, Hypoplasia o... |
ORPHA:37553 |
Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Lymphocytosis, Neutropenia |
ORPHA:1667 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Ovarian cyst, Uterine leiomyoma, Adenomatous colonic ... |
OMIM:617100 |
Fibular Hemimelia |
|
Spina bifida, Anophthalmia |
ORPHA:93323 |
Kasabach-Merritt Syndrome |
|
Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Neutrop... |
ORPHA:2330 |
Poikiloderma With Neutropenia |
|
Leukopenia, Neutropenia, Splenomegaly |
OMIM:604173 |
Ctcf-Related Neurodevelopmental Disorder |
|
Macrodontia of permanent maxillary central incisor, Long philtrum, Epicanthus, Phimosis, Microdon... |
ORPHA:363611 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Retrognathia, Hypothyroidism, Premature thelarche, Decreased response to growth hormone stimulati... |
ORPHA:268261 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Rectal abscess, Neutropenia, B lymphocytopenia |
OMIM:601495 |
Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
Cardioacrofacial Dysplasia 1 |
|
Conical tooth, Short philtrum, Diastema, Hypoplasia of the maxilla, Accessory oral frenulum |
OMIM:619142 |
Craniolenticulosutural Dysplasia |
|
High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Microdontia, Hypoplasia of the... |
ORPHA:50814 |
Marshall Syndrome |
|
Thick upper lip vermilion, Pierre-Robin sequence, Macrodontia of permanent maxillary central inci... |
OMIM:154780 |
Cockayne Syndrome Type 1 |
|
Anophthalmia |
ORPHA:90321 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Conical tooth, Sparse eyebrow, Everted upper lip vermilion, Absent eyelashes, Microdontia, Hypodo... |
OMIM:305100 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Leukocytosis, Myeloproliferative disorder, Thrombocytopenia, Acute leu... |
ORPHA:3226 |
Leopard Syndrome 1 |
|
Mandibular prognathia, Aplasia of the ovary, Epicanthus, Hypoplasia of the ovary, Hypospadias, De... |
OMIM:151100 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Thrombocytopenia, Neutropenia, Splenomegaly |
OMIM:308230 |
Bare Lymphocyte Syndrome, Type Ii |
|
Neutropenia |
OMIM:209920 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Oligospermia, Cryptorchidism |
OMIM:314300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia |
OMIM:613153 |
Hermansky-Pudlak Syndrome 10 |
|
Neutropenia, Splenomegaly |
OMIM:617050 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Neutropenia, Microcytic anemia |
OMIM:251900 |
Pelvis-Shoulder Dysplasia |
|
Spina bifida occulta, Microphthalmia |
OMIM:169550 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Encephalocele, Intrauterine growth retardation |
ORPHA:228390 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Sparse eyebrow, Lipomas of eyelids, Lacrimal punctal atresia, Hypoplasia of the maxilla, Abnormal... |
ORPHA:2399 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Anophthalmia, Optic nerve hypoplasia |
OMIM:605627 |
Chédiak-Higashi Syndrome |
|
Anemia, Neutropenia, Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Increased proportion of ... |
ORPHA:167 |
Goldberg-Shprintzen Syndrome |
|
Downslanted palpebral fissures, Aganglionic megacolon, Oligodontia, Synophrys, Short philtrum, Hy... |
OMIM:609460 |
Peters Plus Syndrome |
|
Intestinal fistula, Short palpebral fissure, Cleft upper lip, Long philtrum, Wide mouth, Widely s... |
ORPHA:709 |
Peutz-Jeghers Syndrome |
|
Ovarian cyst, Oral melanotic macule, Intussusception, Neoplasm of the pancreas, Multiple gastric ... |
OMIM:175200 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Microphthalmia |
ORPHA:85194 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Primary Lipodystrophy |
|
Type II diabetes mellitus, Polycystic ovaries, Menometrorrhagia |
ORPHA:90970 |
Adenohypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95512 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Hypertelorism |
OMIM:122880 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Sepsis In Premature Infants |
|
Anemia, Leukocytosis, Thrombocytopenia, Neutropenia, Splenomegaly |
ORPHA:90051 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Conical tooth, Downslanted palpebral fissures, Widely spaced teeth, Micrognathia, Microdontia, Hy... |
ORPHA:90024 |
Fanconi Anemia, Complementation Group C |
|
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:227645 |
Pfeiffer Syndrome |
|
Downslanted palpebral fissures, Mandibular prognathia, High palate, Hypoplasia of the maxilla, De... |
OMIM:101600 |
Van Der Woude Syndrome |
|
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
ORPHA:888 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Neutropenia, Megaloblastic anemia |
ORPHA:79284 |
Chime Syndrome |
|
Epicanthus, Microdontia, Abnormality of dental morphology, Hypodontia, Short philtrum, Supernumer... |
ORPHA:3474 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:163966 |
Dysostosis, Stanescu Type |
|
Macroglossia, Hypoplasia of the maxilla, Abnormal palate morphology, Hypoplasia of the zygomatic ... |
ORPHA:1798 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Ethmoidal encephalocele, Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Panhypophysitis |
|
Abnormal size of pituitary gland, Increased circulating prolactin concentration, Gonadotropin def... |
ORPHA:95513 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Neutropenia |
OMIM:615471 |
Familial Adenomatous Polyposis |
|
Hypothyroidism, Adenocarcinoma of the small intestine, Papillary thyroid carcinoma, Pancreatic ad... |
ORPHA:733 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:618804 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia |
ORPHA:3191 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
Atelosteogenesis, Type Iii |
|
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Cleft palate |
OMIM:108721 |
Hartsfield Syndrome |
|
Diabetes insipidus, Hypoplasia of the frontal bone, Cleft upper lip, Gonadotropin deficiency, Epi... |
OMIM:615465 |
Lumbar Syndrome |
|
Ambiguous genitalia, Ectopic anus, Bifid scrotum, Hypoplastic labia majora, Anal atresia, Bifid u... |
ORPHA:83628 |
Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia |
OMIM:214150 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Conjunctivitis, Enamel hypoplasia, Downslanted palpebral fissures, Hypoplastic lacrimal duct, Con... |
OMIM:149730 |
Pediatric-Onset Graves Disease |
|
Neutropenia in presence of anti-neutropil antibodies, Emotional lability, Thrombocytopenia, Irrit... |
ORPHA:525731 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Pearson Marrow-Pancreas Syndrome |
|
Anemia, Reticulocytopenia, Refractory sideroblastic anemia, Sideroblastic anemia, Pancytopenia, T... |
OMIM:557000 |
Meckel Syndrome |
|
Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the iris, Anencephaly, Microphthalmia |
ORPHA:564 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia |
OMIM:618652 |
Gorlin-Chaudhry-Moss Syndrome |
|
Abnormal eyelid morphology, Oligodontia, Hypoplasia of the maxilla, Upper eyelid coloboma, Abnorm... |
ORPHA:2095 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Umbilical hernia, Lens coloboma |
OMIM:618914 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Neutropenia, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:607944 |
Wiskott-Aldrich Syndrome |
|
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal eosinophil morphology, Lymphopenia, ... |
ORPHA:906 |
Arboleda-Tham Syndrome |
|
Conjunctivitis, Lacrimal duct stenosis, Mandibular prognathia, Upper eyelid edema, Wide mouth, Ep... |
OMIM:616268 |
Kagami-Ogata Syndrome |
|
Retrognathia, Short palpebral fissure, Long philtrum, Blepharophimosis, Micrognathia, Hypoplasia ... |
OMIM:608149 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Arrhinencephaly, Anophthalmia |
ORPHA:2538 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Increased serum testosterone level, Enlarged polycystic ovaries, Increa... |
ORPHA:64739 |
Cleidocranial Dysplasia 1 |
|
Enamel hypoplasia, Narrow palate, Delayed eruption of primary teeth, Hypoplastic frontal sinuses,... |
OMIM:119600 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, Autoimmune thr... |
OMIM:615952 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Odontoma, Adrenocortical carcinoma, Duodenal adenocarcinoma, Neoplasm of the ... |
ORPHA:247806 |
Fusariosis |
|
Brain abscess, Granuloma, Lung abscess, Lymphopenia, Abnormality of the spleen, Neutropenia |
ORPHA:228119 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
ORPHA:37042 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Microphthalmia |
OMIM:615249 |
Mckusick-Kaufman Syndrome |
|
Urogenital sinus anomaly, High palate, Ectopic anus, Aganglionic megacolon, Hydrometrocolpos, Ure... |
ORPHA:2473 |
Craniosynostosis 2 |
|
Cleft soft palate, Supernumerary tooth |
OMIM:604757 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Aggressive behavior, Neutropenia, Irritability |
OMIM:617799 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Sparse eyebrow, High palate, Wide mouth, Short lingual frenulum, Supernumerary nipple, Bifid uter... |
ORPHA:1521 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Downslanted palpebral fissures, Supernumerary tooth, Thin vermilion border, Malar flattening, Thi... |
ORPHA:86818 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Cleft upper lip, Shawl scrotum, Hypospadias, Cryptorchidism, Cleft palate, Death in childhood, Mi... |
OMIM:600460 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... |
ORPHA:124 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Hypoplastic sweat glands, Dental malocclusion, Long philtrum, Epicanthus, Micrognathia, Synophrys... |
ORPHA:73223 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
Joubert Syndrome 37 |
|
Microphthalmia |
OMIM:619185 |
Non-Acquired Panhypopituitarism |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Absence of ... |
ORPHA:90695 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia |
ORPHA:370959 |
Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:494344 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Neutropenia |
OMIM:618005 |
Myhre Syndrome |
|
Mandibular prognathia, Blepharophimosis, Short philtrum, Narrow palpebral fissure, Hypoplasia of ... |
OMIM:139210 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia |
OMIM:614219 |
Malakoplakia |
|
Neoplasm of the colon, Neoplasm of the rectum, Abnormality of the menstrual cycle, Prostate neopl... |
ORPHA:556 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
Somatomammotropinoma |
|
Increased circulating prolactin concentration, Broad jaw, Mandibular prognathia, Impotence, Widel... |
ORPHA:314769 |
Hennekam Syndrome |
|
Retrognathia, Delayed eruption of teeth, Malabsorption, Epicanthus, Abnormality of dental morphol... |
ORPHA:2136 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Microphthalmia |
OMIM:120200 |
Fetal Alcohol Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1915 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:152950 |
Temtamy Syndrome |
|
Microphthalmia |
OMIM:218340 |
Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
Leigh Syndrome |
|
Anemia, Neutropenia |
ORPHA:506 |
Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia |
ORPHA:1791 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Eruption failure, Odontoma, Adrenocortical carcinoma, Duodenal adenocarcinoma... |
OMIM:175100 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Thrombocytopenia, Neutropenia, Megaloblastic anemia |
OMIM:277400 |
Vici Syndrome |
|
Leukopenia, T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:242840 |
Phocomelia, Schinzel Type |
|
Micrognathia, Hypoplasia of penis, Anal atresia, Tracheoesophageal fistula, Aplasia of the uterus... |
ORPHA:2879 |
Doors Syndrome |
|
Ambiguous genitalia, High palate, Macrodontia of permanent maxillary central incisor, Long philtr... |
ORPHA:79500 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2526 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia |
OMIM:617883 |
Fanconi Anemia, Complementation Group D2 |
|
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:227646 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vaginal atresia, Parathyroid hypoplasia, Aplasia of the uterus, Diabetes mellitus, Hypoparathyroi... |
ORPHA:2237 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Lymphopenia, Autoimm... |
OMIM:613179 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Decreased response to growth hormone stimulation test, Microdontia, Hypodontia, Oligodontia, Shor... |
OMIM:180500 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1352 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Liver abscess, Anemia, Brain abscess, Neutrophilia |
ORPHA:54251 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
Angelman Syndrome |
|
Mandibular prognathia, Wide mouth, Widely spaced teeth, Macroglossia, Hypoplasia of the maxilla, ... |
OMIM:105830 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental malocclusion, Talon cusp, Downslanted palpebral fissures, High palate, Narrow palate, Nata... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental malocclusion, Talon cusp, Downslanted palpebral fissures, High palate, Narrow palate, Nata... |
ORPHA:353277 |
Whim Syndrome |
|
Neutropenia, Lymphopenia, Abnormality of neutrophil morphology |
ORPHA:51636 |
Gracile Bone Dysplasia |
|
Microphthalmia, Aniridia |
OMIM:602361 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Open mouth, Macrodontia of permanent maxillary central incisor, Thick vermilion border |
OMIM:620114 |
Fanconi Anemia, Complementation Group L |
|
Esophageal atresia, Micrognathia, Anal atresia, Tracheoesophageal fistula, Aplasia of the uterus,... |
OMIM:614083 |
Relapsing Fever |
|
Leukopenia, Anemia, Neutrophilia, Leukocytosis, Thrombocytopenia |
ORPHA:91547 |
Steinert Myotonic Dystrophy |
|
Decreased fertility, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Imp... |
ORPHA:273 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia |
OMIM:243310 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Deeply set eye, Hypoplasia of the maxilla, Hypertelorism, Malar flattening |
OMIM:231070 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia |
OMIM:618494 |
Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Widely spaced teeth, Micrognathia, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
Premature Aging Syndrome, Penttinen Type |
|
Retrognathia, Elevated circulating thyroid-stimulating hormone concentration, Delayed eruption of... |
OMIM:601812 |
Agammaglobulinemia, X-Linked |
|
Anemia, Neutropenia, T lymphocytopenia, B lymphocytopenia |
OMIM:300755 |
Tetraamelia Syndrome 1 |
|
Urethral atresia, Cleft upper lip, Adrenal gland agenesis, Micrognathia, Absent external genitali... |
OMIM:273395 |
Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Sparse eyebrow, Hypoplasia of the frontal bone, Epicanthus, Hypoplasia of the maxilla, Ptosis, Ey... |
ORPHA:306542 |
Trichothiodystrophy |
|
Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia |
ORPHA:33364 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Absence of ... |
ORPHA:95494 |
Joubert Syndrome 14 |
|
Meningocele, Encephalocele, Microphthalmia |
OMIM:614424 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Duodenal adenocarcinoma, Neoplasm of the rectum, Colon cancer, Ovarian... |
ORPHA:454840 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia |
ORPHA:335 |
Khan-Khan-Katsanis Syndrome |
|
Anemia, Neutropenia, Lymphopenia |
OMIM:618460 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Neutropenia, Aggressive behavior |
ORPHA:163956 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia, Severe intrauterine growth retardation |
OMIM:241410 |
Odontoonychodermal Dysplasia |
|
Sparse eyebrow, Hypodontia, Widely spaced primary teeth, Agenesis of permanent teeth, Smooth tong... |
OMIM:257980 |
Norrie Disease |
|
Hypoplasia of the iris, Buphthalmos, Microphthalmia |
OMIM:310600 |
Marden-Walker Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:248700 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
Van Den Ende-Gupta Syndrome |
|
Abnormal eyebrow morphology, High palate, Blepharophimosis, Micrognathia, Dental crowding, Hypopl... |
OMIM:600920 |
Toxic Epidermal Necrolysis |
|
Thrombocytopenia, Neutropenia, Anemia |
ORPHA:537 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Azoospermia, Ptosis, Delayed puberty, Esophageal varix, Cholelithiasis, Gastric ulcer |
ORPHA:2072 |
Glycogen Storage Disease Ib |
|
Neutropenia, Splenomegaly |
OMIM:232220 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental malocclusion, Talon cusp, Narrow palate, Natal tooth, Hypodontia, Supernumerary tooth, Int... |
ORPHA:353281 |
Diamond-Blackfan Anemia 1 |
|
Reticulocytopenia, Thrombocytosis, Thrombocytopenia, Neutropenia, Elevated red cell adenosine dea... |
OMIM:105650 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2556 |
Holoprosencephaly 7 |
|
Hypoplasia of the premaxilla, Bilateral cleft lip, Synophrys, Panhypopituitarism, Median cleft li... |
OMIM:610828 |
Zttk Syndrome |
|
Absent gallbladder, Downslanted palpebral fissures, Sparse eyebrow, High palate, Epicanthus, Broa... |
OMIM:617140 |
Primrose Syndrome |
|
Hypothyroidism, Downslanted palpebral fissures, High palate, Epicanthus, Thick lower lip vermilio... |
OMIM:259050 |
Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Neutropenia, Leukemia, Anemia |
ORPHA:221008 |
Refsum Disease |
|
Microphthalmia |
ORPHA:773 |
Fraser Syndrome 1 |
|
Bilateral microphthalmos, Myelomeningocele, Encephalocele, Anophthalmia |
OMIM:219000 |
Charge Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Anophthalmia |
ORPHA:138 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos, Intrauterine growth retardation |
OMIM:610758 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
Tooth Agenesis, Selective, 4 |
|
Sparse eyebrow, Peg-shaped maxillary lateral incisors, Agenesis of permanent teeth, Tooth agenesi... |
OMIM:150400 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
Warburg Micro Syndrome 4 |
|
Microphthalmia |
OMIM:615663 |
Exstrophy-Epispadias Complex |
|
Abnormality of the orbital region, Female sexual dysfunction, Absent penis, Bifid scrotum, Penosc... |
ORPHA:322 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Thrombocytopenia, Neutropenia, Megaloblastic anemia |
ORPHA:79282 |
Hypermobile Ehlers-Danlos Syndrome |
|
Decreased fertility, Gingivitis, Epicanthus, Malabsorption, Microdontia, Keratoconjunctivitis sic... |
ORPHA:285 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Psoriasis 14, Pustular |
|
Neutrophilia, Leukocytosis |
OMIM:614204 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia |
ORPHA:891 |
Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Neutropenia, Leukemia, Anemia |
ORPHA:221016 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Bilateral microphthalmos, Umbilical hernia |
ORPHA:369891 |
Cartilage-Hair Hypoplasia |
|
Anemia, Neutropenia |
ORPHA:175 |
Micro Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:2510 |
Fraser Syndrome |
|
Myelomeningocele, Encephalocele, Anophthalmia, Microphthalmia, Umbilical hernia |
ORPHA:2052 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:244300 |
Floating-Harbor Syndrome |
|
Precocious puberty, Wide mouth, Congenital posterior urethral valve, Microdontia, Oligodontia, Sh... |
ORPHA:2044 |
Focal Dermal Hypoplasia |
|
Myelomeningocele, Anophthalmia, Spina bifida occulta, Microphthalmia, Umbilical hernia, Aniridia |
OMIM:305600 |
Warburg Micro Syndrome 3 |
|
Microphthalmia |
OMIM:614222 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
Hermansky-Pudlak Syndrome |
|
Neutropenia |
ORPHA:79430 |
Neu-Laxova Syndrome 1 |
|
Cleft upper lip, Thick lower lip vermilion, Micrognathia, Absent eyelashes, Pterygium, Swollen li... |
OMIM:256520 |
Oeis Complex |
|
Duplicated colon, Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Ambiguous g... |
OMIM:258040 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an... |
ORPHA:3261 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Retrognathia, Short palpebral fissure, Mandibular prognathia, Long philtrum, Deep philtrum, Epica... |
ORPHA:96334 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia |
OMIM:619135 |
Branchiooculofacial Syndrome |
|
Cleft upper lip, Ectopic thymus tissue, Upslanted palpebral fissure, Lower lip pit, Micrognathia,... |
OMIM:113620 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia |
OMIM:234050 |
Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus, Anal atresia |
OMIM:617466 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
Klippel-Trénaunay Syndrome |
|
Abnormality of the menstrual cycle |
ORPHA:90308 |
Stickler Syndrome |
|
Cleft upper lip, Long philtrum, Epicanthus, Advanced eruption of teeth, Micrognathia, Macroglossi... |
ORPHA:828 |
Pearson Syndrome |
|
Anemia, Reticulocytosis, Pancytopenia, Thrombocytopenia, Hypoplastic spleen, Neutropenia, Splenom... |
ORPHA:699 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
3Q29 Microduplication Syndrome |
|
Microphthalmia, Aniridia |
ORPHA:251038 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor, Aplasia of the eccrine sweat glands |
OMIM:300291 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Neutropenia |
OMIM:271510 |
Craniosynostosis And Dental Anomalies |
|
Dental malocclusion, Downslanted palpebral fissures, Mandibular prognathia, Narrow palate, High p... |
OMIM:614188 |
Adams-Oliver Syndrome |
|
Encephalocele, Microphthalmia |
ORPHA:974 |
Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:251230 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia |
OMIM:612530 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:3301 |
Frontonasal Dysplasia 2 |
|
Microphthalmia, Encephalocele, Intrauterine growth retardation |
OMIM:613451 |
Persistent Hyperplastic Primary Vitreous |
|
Macular hypoplasia, Buphthalmos, Microphthalmia, Phthisis bulbi |
ORPHA:91495 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia |
OMIM:618571 |
Weill-Marchesani Syndrome 1 |
|
Narrow palate, Abnormality of dental morphology, Hypoplasia of the maxilla, Shallow orbits, Tooth... |
OMIM:277600 |
Kikuchi-Fujimoto Disease |
|
Leukopenia, Anemia, Lymphocytosis, Thrombocytopenia, Neutropenia, Splenomegaly |
ORPHA:50918 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Encephalocele, Microphthalmia |
OMIM:613150 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Anencephaly, Encephalocele, Microphthalmia |
OMIM:619148 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
OMIM:616449 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Increased proportion of CD4-positive T cells, Leukocytosis |
OMIM:617099 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:613001 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:2714 |
Warburg Micro Syndrome 2 |
|
Microphthalmia |
OMIM:614225 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Hypersplenism, Pancytopenia, Hepatosplenome... |
ORPHA:228426 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia |
ORPHA:35173 |
Selective Igm Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of CD8-positive T cell... |
ORPHA:331235 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Hypertelorism, Proptosis |
OMIM:259600 |
Hydrolethalus Syndrome 1 |
|
Micrognathia, Median cleft lip, Bifid uterus, Hypospadias, Adrenal gland dysgenesis, Stillbirth, ... |
OMIM:236680 |
Loeys-Dietz Syndrome |
|
High palate, Micrognathia, Bifid uvula, Uterine rupture, Malar flattening, Orofacial cleft |
ORPHA:60030 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia |
OMIM:610651 |
Zygomycosis |
|
Brain abscess, Neutropenia, Splenic abscess |
ORPHA:73263 |
Mosaic Trisomy 9 |
|
Spina bifida, Microphthalmia, Intrauterine growth retardation |
ORPHA:99776 |
Charge Syndrome |
|
Anophthalmia, Arrhinencephaly, Unilateral microphthalmos, Microphthalmia, Umbilical hernia |
OMIM:214800 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:603467 |
Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele, Microphthalmia |
OMIM:601707 |
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 |
Oculoauricular Syndrome |
|
Macular hypoplasia, Spina bifida occulta, Microphthalmia, Phthisis bulbi, Microphakia |
OMIM:612109 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:617729 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
8Q24.3 Microdeletion Syndrome |
|
Long philtrum, Cleft maxillary alveolar ridge, Epicanthus, Long eyelashes, Microretrognathia, Ect... |
ORPHA:508488 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Chronic neutropenia, Anemia, Abnormal myeloid leukocyte morphology |
ORPHA:79259 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Microphthalmia |
OMIM:253800 |
Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Microphthalmia |
OMIM:619879 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Chronic neutropenia, Transient neutropenia |
ORPHA:500095 |
Joubert Syndrome 2 |
|
Encephalocele, Microphthalmia |
OMIM:608091 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Phace Association |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:606519 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymph... |
ORPHA:391487 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
Galloway-Mowat Syndrome 1 |
|
Microphthalmia, Hypoplasia of the iris, Intrauterine growth retardation |
OMIM:251300 |
Pelvis-Shoulder Dysplasia |
|
Spina bifida, Hydranencephaly, Bilateral microphthalmos |
ORPHA:2839 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia |
OMIM:300952 |
3-Methylglutaconic Aciduria, Type Viii |
|
Neutropenia |
OMIM:617248 |
Weill-Marchesani Syndrome 2 |
|
High palate, Narrow palate, Abnormality of dental morphology, Hypoplasia of the maxilla, Shallow ... |
OMIM:608328 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia |
OMIM:302960 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia |
OMIM:601675 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Meningoencephalocele, Optic nerve hypoplasia, Buphthalmos, Microphthalmia, Occipital encephalocele |
OMIM:236670 |
Duane-Radial Ray Syndrome |
|
Spina bifida occulta, Optic disc hypoplasia, Microphthalmia |
OMIM:607323 |
Microphthalmia, Lenz Type |
|
Microphthalmia |
ORPHA:568 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia |
OMIM:614230 |
Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia |
OMIM:617107 |
1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:250989 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia |
OMIM:607932 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Long philtrum, Thick lower lip vermilion, Narrow mouth, Palpebral edema, Mesiodens |
ORPHA:314647 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:65286 |
Focal Dermal Hypoplasia |
|
Spina bifida, Hypoplasia of the iris, Microphthalmia, Umbilical hernia |
ORPHA:2092 |
Glycogen Storage Disease Ic |
|
Cyclic neutropenia |
OMIM:232240 |
Stromme Syndrome |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:243605 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Micrognathia, Ankyloglossia, Type I diabetes mellitus, Supernumerary tooth, Bile duct proliferation |
OMIM:619525 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anemia, Neutropenia, Depression, Anxiety |
ORPHA:95455 |
Mosaic Trisomy 1 |
|
Microphthalmia |
ORPHA:1692 |
Greenberg Dysplasia |
|
Retrognathia, Micrognathia, Hypoplasia of the maxilla, Hypertelorism, Stillbirth, Large placenta,... |
OMIM:215140 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasia, Hypoplasia of the iris, Micro... |
OMIM:609049 |
Jacobsen Syndrome |
|
Macular hypoplasia, Microphthalmia, Intrauterine growth retardation |
OMIM:147791 |
Papillorenal Syndrome |
|
Microphthalmia |
OMIM:120330 |
Cousin Syndrome |
|
Hydranencephaly, Microphthalmia |
OMIM:260660 |
Saethre-Chotzen Syndrome |
|
Abnormal nasolacrimal system morphology, Narrow palate, Hypoplasia of the maxilla, Ptosis, Cleft ... |
OMIM:101400 |
Fryns Syndrome |
|
Microphthalmia |
ORPHA:2059 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia |
ORPHA:1236 |
Dubowitz Syndrome |
|
Microphthalmia, Hypoplasia of the iris, Intrauterine growth retardation |
OMIM:223370 |
Cat Eye Syndrome |
|
Microphthalmia, Umbilical hernia |
OMIM:115470 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Microphthalmia |
OMIM:616300 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
ORPHA:464738 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia |
OMIM:300895 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Absent gallbladder, Sparse eyebrow, Downslanted palpebral fissures, Epicanthus, Bifid uvula, Shor... |
ORPHA:500150 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Unilateral microphthalmos |
OMIM:618874 |
Momo Syndrome |
|
Bilateral microphthalmos |
ORPHA:2563 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Hypoplasia of the maxilla, Hypoplasia of the anterior nasal spine |
ORPHA:79345 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia |
ORPHA:85167 |
Incontinentia Pigmenti |
|
Spina bifida occulta, Microphthalmia, Umbilical hernia |
ORPHA:464 |
Lymphedema-Distichiasis Syndrome |
|
Microphthalmia |
OMIM:153400 |
Teebi-Shaltout Syndrome |
|
Microphthalmia |
OMIM:272950 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia |
ORPHA:2612 |
Monosomy 9Q22.3 |
|
Microphthalmia, Umbilical hernia |
ORPHA:77301 |
Pallister-Hall Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:146510 |
2Q31.1 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:251014 |
Steinfeld Syndrome |
|
Microphthalmia |
OMIM:184705 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia |
ORPHA:268249 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:308300 |
Basal Cell Nevus Syndrome 1 |
|
Spina bifida, Microphthalmia |
OMIM:109400 |
Monosomy 13Q14 |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1587 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia |
OMIM:127000 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia |
OMIM:201180 |
Mosaic Variegated Aneuploidy Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1052 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Microphthalmia |
ORPHA:959 |
Craniofacial Microsomia |
|
Microphthalmia, Occipital encephalocele, Branchial anomaly, Anophthalmia |
OMIM:164210 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Spina bifida, Microphthalmia, Optic nerve hypoplasia |
ORPHA:508498 |
Sponastrime Dysplasia |
|
Neutropenia |
ORPHA:93357 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:620005 |
Histiocytoid Cardiomyopathy |
|
Microphthalmia, Congenital aphakia |
ORPHA:137675 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:616975 |
Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
Aspartylglucosaminuria |
|
Neutropenia, Vacuolated lymphocytes |
OMIM:208400 |
Cockayne Syndrome B |
|
Microphthalmia, Hypoplasia of the iris, Intrauterine growth retardation |
OMIM:133540 |
Oculodentodigital Dysplasia |
|
Microphthalmia |
OMIM:164200 |
Aicardi Syndrome |
|
Spina bifida, Microphthalmia |
OMIM:304050 |
Phace Syndrome |
|
Lens coloboma, Microphthalmia, Optic nerve hypoplasia |
ORPHA:42775 |
African Trypanosomiasis |
|
Conjunctivitis, Impotence, Abnormality of circulating cortisol level, Infertility, Abnormality of... |
ORPHA:3385 |
Roberts Syndrome |
|
Microphthalmia, Severe intrauterine growth retardation |
ORPHA:3103 |
22Q11.2 Deletion Syndrome |
|
Meningocele, Spina bifida, Arrhinencephaly, Occipital myelomeningocele, Microphthalmia, Intrauter... |
ORPHA:567 |
Meckel Syndrome, Type 1 |
|
Anencephaly, Microphthalmia, Large placenta, Occipital encephalocele, Intrauterine growth retarda... |
OMIM:249000 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Microphthalmia |
OMIM:617925 |
Aicardi Syndrome |
|
Microphthalmia |
ORPHA:50 |
Osteoporosis-Pseudoglioma Syndrome |
|
Phthisis bulbi, Microphthalmia |
OMIM:259770 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:608670 |
Mend Syndrome |
|
Microphthalmia |
ORPHA:401973 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia |
OMIM:601552 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Bilateral microphthalmos, Intrauterine growth retardation, Optic nerve hypoplasia |
ORPHA:468631 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos, Intrauterine growth retardation |
ORPHA:93325 |
Cockayne Syndrome Type 3 |
|
Microphthalmia |
ORPHA:90324 |
Fryns Syndrome |
|
Arrhinencephaly, Microphthalmia |
OMIM:229850 |
Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Umbilical hernia |
OMIM:613884 |
Monosomy 9P |
|
Microphthalmia |
ORPHA:261112 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Microphthalmia |
OMIM:609945 |
Singleton-Merten Syndrome 1 |
|
Eruption failure, Hypoplasia of the maxilla, Thin upper lip vermilion, Carious teeth, Ptosis, Smo... |
OMIM:182250 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Hypoplasia of the retina, Microphthalmia |
OMIM:253280 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Microphthalmia |
OMIM:100300 |
Degcags Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:619488 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia |
OMIM:616734 |
Fontaine Progeroid Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Umbilical hernia |
OMIM:612289 |
Cockayne Syndrome |
|
Microphthalmia |
ORPHA:191 |
Yunis-Varon Syndrome |
|
Bilateral microphthalmos, Arrhinencephaly, Microphthalmia |
ORPHA:3472 |
Angioosteohypertrophic Syndrome |
|
Abnormality of the menstrual cycle |
ORPHA:2346 |
Renpenning Syndrome 1 |
|
Microphthalmia |
OMIM:309500 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Microphthalmia, Umbilical hernia, Lens coloboma |
OMIM:619539 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia |
OMIM:612474 |
Witteveen-Kolk Syndrome |
|
Microphthalmia, Branchial fistula, Intrauterine growth retardation |
OMIM:613406 |
Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia |
OMIM:309000 |
Pallister-Hall Syndrome |
|
Microphthalmia, Arrhinencephaly, Intrauterine growth retardation, Umbilical hernia |
ORPHA:672 |
Norrie Disease |
|
Hypoplasia of the iris, Aplasia/Hypoplasia of the lens, Microphthalmia |
ORPHA:649 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:175780 |
Roberts-Sc Phocomelia Syndrome |
|
Frontal encephalocele, Microphthalmia, Severe intrauterine growth retardation |
OMIM:268300 |
Mowat-Wilson Syndrome |
|
Microphthalmia |
OMIM:235730 |
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 |