Microphthalmia, Isolated 4 |
|
Absent testis, Microphthalmia |
OMIM:613094 |
Hypogonadism, Male |
|
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... |
ORPHA:983 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hypogonadotropic hypogonadism, Delayed puberty, Microphthalmia, Hypospadias |
ORPHA:141333 |
Premature Ovarian Failure 12 |
|
Microphthalmia, Primary amenorrhea |
OMIM:616947 |
Gombo Syndrome |
|
Delayed puberty, Microphthalmia |
OMIM:233270 |
Ovarian Dysgenesis 6 |
|
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... |
OMIM:618078 |
46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... |
OMIM:273250 |
Mmep Syndrome |
|
Cryptorchidism, Microphthalmia |
ORPHA:3434 |
46,Xx Testicular Difference Of Sex Development |
|
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
Leydig Cell Hypoplasia |
|
Cryptorchidism, Male pseudohermaphroditism, Abnormal internal genitalia, Primary amenorrhea, Fema... |
ORPHA:755 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Hypogonadism, External genital hypoplasia, Cryptorchidism, Microphthalmia |
ORPHA:363741 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Microphthalmia, Syndromic 12 |
|
Bicornuate uterus, Cryptorchidism, Anophthalmia, Microphthalmia |
OMIM:615524 |
Fryns Microphthalmia Syndrome |
|
Unicornuate uterus, Anophthalmia, Microphthalmia |
OMIM:600776 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... |
OMIM:300510 |
Microphthalmia/Coloboma 6 |
|
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos |
OMIM:613703 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... |
ORPHA:52901 |
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Hypogonadism, Cryptorchidism, Microphthalmia |
OMIM:601794 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Hypogonadism, Microphthalmia |
ORPHA:2528 |
Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea |
OMIM:608996 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... |
OMIM:614841 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
46,Xy Sex Reversal 3 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... |
OMIM:612965 |
Microphthalmia/Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Premature Ovarian Failure 7 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... |
OMIM:612964 |
Testicular Agenesis |
|
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... |
ORPHA:325124 |
Perrault Syndrome 6 |
|
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... |
OMIM:617565 |
Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Absence of pubertal development, Azoospermia, Decreased testicular size, Cryptorchidism, Hypogona... |
OMIM:614837 |
Complete Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... |
ORPHA:99429 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... |
ORPHA:168563 |
Xk Aprosencephaly Syndrome |
|
Abnormal external genitalia, Microphthalmia |
ORPHA:3469 |
Microphthalmia/Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... |
OMIM:619665 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... |
OMIM:612310 |
Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... |
ORPHA:90797 |
Premature Ovarian Failure 18 |
|
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... |
OMIM:619203 |
Microphthalmia, Syndromic 8 |
|
Cryptorchidism, Microphthalmia |
OMIM:601349 |
Ovarian Dysgenesis 7 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva... |
OMIM:618117 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
Premature Ovarian Failure 13 |
|
Female infertility, Amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone... |
OMIM:617442 |
Microphthalmia/Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Abnormal vagina morphology, Abnormality of the uterus, Aniridia, Streak ovary, Cryptorchidism, Go... |
OMIM:194072 |
Microphthalmia/Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Anophthalmia, Microphthalmia |
OMIM:164180 |
Microphthalmia/Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism, Microphthalmia |
ORPHA:1135 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Microphthalmia |
OMIM:613730 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... |
ORPHA:90793 |
Mullerian Aplasia And Hyperandrogenism |
|
Increased circulating dehydroepiandrosterone-sulfate concentration, Increased circulating androst... |
OMIM:158330 |
Cofs Syndrome |
|
Hypogonadism, Microphthalmia |
ORPHA:1466 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Perrault Syndrome 3 |
|
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... |
OMIM:614129 |
Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... |
OMIM:617690 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami... |
OMIM:308700 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... |
OMIM:614842 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... |
OMIM:308750 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Cryptorchidism, Anophthalmia, Microphthalmia, Micropenis, Optic nerv... |
OMIM:610125 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Vaginal fistula, Unilateral microphthalmos, Bilateral microphthalmos |
OMIM:619318 |
Warburg Micro Syndrome 1 |
|
External genital hypoplasia, Cryptorchidism, Microphthalmia |
OMIM:600118 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... |
OMIM:277000 |
Matthew-Wood Syndrome |
|
Annular pancreas, Abnormality of the uterus, Anophthalmia, Cryptorchidism, Microphthalmia, Aplasi... |
ORPHA:2470 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Pierpont Syndrome |
|
Cryptorchidism, Microphthalmia |
ORPHA:487825 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Microphthalmia |
ORPHA:2547 |
Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
Meckel Syndrome, Type 8 |
|
Ambiguous genitalia, Anophthalmia, Microphthalmia |
OMIM:613885 |
Pierpont Syndrome |
|
Micropenis, Cryptorchidism, Microphthalmia |
OMIM:602342 |
46,Xx Sex Reversal 2 |
|
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... |
OMIM:278850 |
Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... |
ORPHA:251510 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Absence of secondary sex characteristics, Absence of pubertal development, Non... |
ORPHA:432 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Dysmenorrhea... |
ORPHA:90796 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Microphthalmia |
ORPHA:48431 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Bresek Syndrome |
|
Decreased testicular size, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia |
ORPHA:85284 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Cryptorchidism, Anophthalmia, Microphthalmia, Hypoplasia of penis, Hypospadias |
ORPHA:77298 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ambiguous genitalia, Microphthalmia |
ORPHA:93267 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Microphthalmia |
OMIM:614402 |
Joubert Syndrome 37 |
|
Micropenis, Decreased testicular size, Cryptorchidism, Microphthalmia |
OMIM:619185 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Micropenis, Small scrotum, Microphthalmia |
OMIM:610756 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Decreased testicular size, Micropenis, Microphthalmia |
ORPHA:335 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Developmental And Epileptic Encephalopathy 1 |
|
Micropenis, Microphthalmia |
OMIM:308350 |
Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... |
ORPHA:65681 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Vaginal atresia, Hypoplasia of the uterus, Optic nerve hypoplasia, Microphthalmia |
OMIM:617914 |
Hydrolethalus |
|
Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia |
ORPHA:2189 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Bilateral cryptorchidism |
OMIM:618652 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Perrault Syndrome 4 |
|
Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased... |
OMIM:615300 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Microphthalmia With Brain And Digit Anomalies |
|
Abnormality of the hypothalamus-pituitary axis, Cryptorchidism, Anophthalmia, Microphthalmia |
ORPHA:139471 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... |
OMIM:202010 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Hypogonadism, Small scrotum, Cryptorchidism, Microphthalmia |
ORPHA:228390 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Seckel Syndrome 2 |
|
Hypospadias, Microphthalmia |
OMIM:606744 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:218670 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Small scrotum, Abnormal scrotum morphology, Cryptorchidism, Microphthalmia, Hypospadias |
ORPHA:2505 |
Warburg Micro Syndrome 4 |
|
Small scrotum, Decreased testicular size, Cryptorchidism, Microphthalmia, Micropenis |
OMIM:615663 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Microphthalmia, Isolated 8 |
|
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:615113 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:289548 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:168558 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microphthalmia |
ORPHA:1528 |
Trisomy 13 |
|
Abnormal morphology of female internal genitalia, Cryptorchidism, Anophthalmia, Displacement of t... |
ORPHA:3378 |
Estrogen Resistance |
|
Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circul... |
OMIM:615363 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Osteoporosis-Pseudoglioma Syndrome |
|
Isosexual precocious puberty, Microphthalmia |
ORPHA:2788 |
Lumbar Syndrome |
|
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... |
ORPHA:83628 |
Manitoba Oculotrichoanal Syndrome |
|
Vaginal atresia, Anophthalmia, Microphthalmia |
OMIM:248450 |
Moebius Syndrome |
|
Micropenis, Decreased testicular size, Hypogonadotropic hypogonadism, Microphthalmia |
OMIM:157900 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis |
OMIM:614225 |
Hemochromatosis, Type 1 |
|
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... |
OMIM:235200 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... |
ORPHA:3130 |
Fanconi Anemia, Complementation Group S |
|
Ovarian neoplasm, Ovarian carcinoma, Microphthalmia |
OMIM:617883 |
Warburg Micro Syndrome 3 |
|
Small scrotum, Decreased testicular size, Microphthalmia, Micropenis, Hypoplastic labia minora |
OMIM:614222 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cryptorchidism, Microphthalmia |
OMIM:214150 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia |
ORPHA:324416 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Female infertility, Amenorrhea, Microphthalmia, Increased circulating gon... |
OMIM:110100 |
Cat-Eye Syndrome |
|
Microphthalmia |
ORPHA:195 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Small scrotum, Cryptorchidism, Microphthalmia |
ORPHA:2728 |
Kapur-Toriello Syndrome |
|
Hypoplastic labia majora, Hypoplasia of penis, Microphthalmia |
ORPHA:2328 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Congenital hypoparathyroid... |
OMIM:241410 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Micro Syndrome |
|
Cryptorchidism, Delayed puberty, Microphthalmia, Hypoplasia of penis, Hypoplastic labia minora, C... |
ORPHA:2510 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Baraitser-Winter Syndrome 1 |
|
Micropenis, Cryptorchidism, Microphthalmia |
OMIM:243310 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypogonadism, External genital hypoplasia, Cryptorchidism, Anophthalmia, Microphthalmia, Hypoplas... |
ORPHA:2250 |
Gracile Bone Dysplasia |
|
Micropenis, Aniridia, Microphthalmia |
OMIM:602361 |
Tetraamelia-Multiple Malformations Syndrome |
|
Vaginal atresia, Septo-optic dysplasia, Cryptorchidism, Microphthalmia |
ORPHA:3301 |
Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Cryptorchidism, Microphthalmia |
ORPHA:494344 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Abnormal circulating dehydroepia... |
ORPHA:90794 |
Ritscher-Schinzel Syndrome 3 |
|
Cryptorchidism, Microphthalmia |
OMIM:619135 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Cryptorchidism, Microphthalmia |
OMIM:618494 |
Kapur-Toriello Syndrome |
|
Micropenis, Hypoplastic labia majora, Cryptorchidism, Microphthalmia |
OMIM:244300 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... |
ORPHA:3109 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia |
OMIM:613155 |
Congenital Toxoplasmosis |
|
Microphthalmia |
ORPHA:858 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia, Bilateral cryptorchidism |
OMIM:616395 |
Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Brea... |
ORPHA:785 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:615181 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris |
OMIM:604229 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
Congenital Rubella Syndrome |
|
Type I diabetes mellitus, Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:290 |
Lissencephaly 8 |
|
Microphthalmia |
OMIM:617255 |
Marden-Walker Syndrome |
|
Micropenis, Hypospadias, Cryptorchidism, Microphthalmia |
OMIM:248700 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia |
OMIM:300887 |
Microphthalmia With Limb Anomalies |
|
Unilateral cryptorchidism, Anophthalmia, Microphthalmia |
OMIM:206920 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... |
OMIM:305400 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Cryptorchidism, Microphthalmia |
ORPHA:404440 |
Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation, Microphthalmia |
OMIM:611561 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Cryptorchidism, Anophthalmia, Hypogonadotropic hypogonadism, Anterior pituit... |
OMIM:206900 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplastic labia majora, Primary ... |
OMIM:603457 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Anophthalmia, Microphthalmia |
ORPHA:899 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Cryptorchidism, Microphthalmia |
OMIM:613001 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhe... |
OMIM:146255 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Hypospadias, Anophthalmia, Microphthalmia |
OMIM:615877 |
Congenital Primary Aphakia |
|
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... |
ORPHA:83461 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Pseudotrisomy 13 Syndrome |
|
Cryptorchidism, Adrenal hypoplasia, Microphthalmia, Micropenis, Bicornuate uterus |
OMIM:264480 |
Wolfram Syndrome 1 |
|
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus |
OMIM:222300 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Cryptorchidism, Supernumerary nipple |
OMIM:612530 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Hypospadias, Unilateral microphthalmos |
OMIM:618874 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... |
ORPHA:465508 |
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Microphthalmia, Decreased pineal volume |
OMIM:301108 |
Vacterl With Hydrocephalus |
|
Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia |
ORPHA:3412 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia |
OMIM:613153 |
Solitary Median Maxillary Central Incisor |
|
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anophthalmia, Mi... |
OMIM:147250 |
Autosomal Dominant Keratitis |
|
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... |
ORPHA:2334 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Cryptorchidism, Bilateral microphthalmos |
ORPHA:369891 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
Subaortic Stenosis-Short Stature Syndrome |
|
Type II diabetes mellitus, Microphthalmia |
ORPHA:3191 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Ovotestis, Chordee, Microphthalmia, Micropenis, Hypoplasia of the uterus, H... |
OMIM:309801 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Townes-Brocks Syndrome 2 |
|
Bifid uterus, Rectovaginal fistula, Hypospadias |
OMIM:617466 |
Mosaic Trisomy 9 |
|
Hypoplastic female external genitalia, Abnormality of the uterus, Cryptorchidism, Abnormal fallop... |
ORPHA:99776 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Xeroderma Pigmentosum, Complementation Group B |
|
Hypogonadism, Microphthalmia |
OMIM:610651 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Frontonasal Dysplasia 1 |
|
Microphthalmia |
OMIM:136760 |
Martsolf Syndrome 1 |
|
Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Microphthalmia |
OMIM:212720 |
8Q21.11 Microdeletion Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Microphthalmia |
ORPHA:284160 |
Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... |
OMIM:241080 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Microphthalmia |
ORPHA:85194 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Microphallus, Microphthalmia |
OMIM:603467 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypospadias, Cryptorchidism, Ambiguous genitalia, Adrenal hypoplasia, Microphthalmia, Hypoplasia ... |
ORPHA:2166 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Penoscrotal transposition, Bifid scrotum, Cryptorchidism, Microphthalmia, Hypospadias |
OMIM:619148 |
Microphthalmia, Lenz Type |
|
Hypospadias, Cryptorchidism, Microphthalmia |
ORPHA:568 |
Meckel Syndrome 14 |
|
Aplasia of the uterus, Ambiguous genitalia, Microphthalmia |
OMIM:619879 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Clitoral hypertrophy, Hypospadias, Microphthalmia |
OMIM:616449 |
Fanconi Anemia, Complementation Group A |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility, Microphthalmia |
OMIM:227650 |
Monosomy 18P |
|
Hypothyroidism, Microphthalmia |
ORPHA:1598 |
Popliteal Pterygium Syndrome |
|
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... |
OMIM:119500 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Micropenis, Cryptorchidism, Microphthalmia |
OMIM:614230 |
Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... |
ORPHA:3464 |
Fanconi Anemia, Complementation Group E |
|
Cryptorchidism, Hypergonadotropic hypogonadism, Microphthalmia |
OMIM:600901 |
Anterior Segment Dysgenesis 2 |
|
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia |
OMIM:610256 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:614833 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Ohdo Syndrome, X-Linked |
|
Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis |
OMIM:300895 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Fryns Syndrome |
|
Bicornuate uterus, Hypospadias, Cryptorchidism, Microphthalmia |
ORPHA:2059 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation, Microphthalmia |
OMIM:603194 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia |
OMIM:614219 |
Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Hypothyroidism, Optic nerve hypoplasia, Mi... |
OMIM:609053 |
Jacobsen Syndrome |
|
Annular pancreas, Cryptorchidism, Macular hypoplasia, Labial hypoplasia, Microphthalmia, Hypospad... |
OMIM:147791 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia,... |
ORPHA:2237 |
Oeis Complex |
|
Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... |
OMIM:258040 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... |
OMIM:157640 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Microphthalmia |
OMIM:615249 |
Microphthalmia, Syndromic 9 |
|
Bilateral microphthalmos, Cryptorchidism, Anophthalmia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601186 |
Von Hippel-Lindau Syndrome |
|
Pheochromocytoma, Paraganglioma, Epididymal cyst, Pancreatic cysts, Neoplasm of the pancreas, Pap... |
OMIM:193300 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:152950 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic nerve hypoplasia, Microphthalmia |
ORPHA:370959 |
Frontonasal Dysplasia 2 |
|
Microphthalmia, Bilateral cryptorchidism |
OMIM:613451 |
Temtamy Syndrome |
|
Microphthalmia |
OMIM:218340 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lens coloboma, Microphthalmia |
OMIM:618914 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Renal Cysts And Diabetes Syndrome |
|
Maturity-onset diabetes of the young, Pancreatic hypoplasia, Pancreatic atrophy, Atretic vas defe... |
OMIM:137920 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
Meckel Syndrome, Type 4 |
|
Bile duct proliferation, Microphthalmia |
OMIM:611134 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia |
OMIM:618804 |
Meckel Syndrome |
|
Cryptorchidism, Anophthalmia, True hermaphroditism, Aplasia/Hypoplasia of the iris, Male pseudohe... |
ORPHA:564 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
Trichothiodystrophy 1, Photosensitive |
|
Hypogonadism, Microphthalmia |
OMIM:601675 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Fanconi Anemia, Complementation Group C |
|
Cryptorchidism, Hypergonadotropic hypogonadism, Microphthalmia |
OMIM:227645 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
Cohen Syndrome |
|
Delayed puberty, Cryptorchidism, Microphthalmia |
ORPHA:193 |
Pallister-Hall Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Decreased testicular s... |
OMIM:146510 |
Tetraamelia Syndrome 1 |
|
Absent external genitalia, Adrenal gland agenesis, Microphthalmia, Vaginal atresia, Hypoplasia of... |
OMIM:273395 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia, Supernumerary nipple |
OMIM:620098 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cryptorchidism, Microphthalmia, Buphthalmos, Hypoplastic male external genitalia, Optic nerve hyp... |
OMIM:236670 |
Joubert Syndrome 2 |
|
Hypoplastic male external genitalia, Microphthalmia |
OMIM:608091 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
Pontocerebellar Hypoplasia Type 7 |
|
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... |
ORPHA:284339 |
3Q29 Microdeletion Syndrome |
|
Hypospadias, Microphthalmia |
ORPHA:65286 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Otodental Syndrome |
|
Lens coloboma, Microphthalmia |
ORPHA:2791 |
1Q21.1 Microdeletion Syndrome |
|
Cryptorchidism, Microphthalmia |
ORPHA:250989 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia |
OMIM:169550 |
Fanconi Anemia, Complementation Group L |
|
Micropenis, Aplasia of the uterus, Microphthalmia |
OMIM:614083 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Decreased fertility, Microphthalmia |
OMIM:234050 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Clitoral hypertrophy, Anophthalmia, Male pseudohermaphroditism, Ambigu... |
ORPHA:2556 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Bartsocas-Papas Syndrome 1 |
|
Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Ambiguous genitali... |
OMIM:263650 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Fanconi Anemia |
|
Abnormality of the uterus, Hypogonadism, Azoospermia, Cryptorchidism, Absent testis, Aplasia/Hypo... |
ORPHA:84 |
Mosaic Trisomy 1 |
|
Micropenis, Penile hypospadias, Microphthalmia |
ORPHA:1692 |
Cousin Syndrome |
|
Ambiguous genitalia, male, Ambiguous genitalia, female, Microphthalmia |
OMIM:260660 |
Treacher-Collins Syndrome |
|
Small scrotum, Cryptorchidism, Hypoplasia of the thymus, Abnormality of the adrenal glands, Micro... |
ORPHA:861 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Ambiguous genitalia, Cryptorchidism, Microphthalmia |
OMIM:616300 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Trisomy 18 |
|
Microphthalmia, Cryptorchidism, Abnormal morphology of female internal genitalia |
ORPHA:3380 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
ORPHA:1791 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Uterus didelphys, Septate vagina, Absent gallbladder, Microphthalmia, Micropenis |
OMIM:617925 |
Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
Garg-Mishra Progeroid Syndrome |
|
Microphthalmia |
OMIM:620601 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
2Q31.1 Microdeletion Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Cryptorchidism, Microphthalmia |
ORPHA:251014 |
Fraser Syndrome 2 |
|
Hypoplasia of the thymus, Ambiguous genitalia, Microphthalmia |
OMIM:617666 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cholelithiasis, Hypospadias, Male urethral meatus stenosis, Microphthalmia |
ORPHA:464738 |
Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Cryptorchidism, Microphthalmia, Micropenis, Hypergonadotropic hypogonadism |
OMIM:227646 |
Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Hypoplastic nipples, Microphthalmia |
OMIM:156610 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Bilateral microphthalmos, Microphthalmia |
ORPHA:2399 |
Pelvis-Shoulder Dysplasia |
|
Ambiguous genitalia, Bilateral microphthalmos |
ORPHA:2839 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
Microphthalmia/Coloboma 12 |
|
Optic nerve aplasia, Microphthalmia |
OMIM:120200 |
Refsum Disease |
|
Microphthalmia |
ORPHA:773 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
Phace Association |
|
Microphthalmia, Congenital hypothyroidism, Optic nerve hypoplasia, Lingual thyroid |
OMIM:606519 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
Microphthalmia/Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Dubowitz Syndrome |
|
Hypoplasia of the iris, Hypospadias, Cryptorchidism, Microphthalmia |
OMIM:223370 |
Rothmund-Thomson Syndrome, Type 2 |
|
Hypogonadism, Annular pancreas, Cryptorchidism, Microphthalmia |
OMIM:268400 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina |
OMIM:271520 |
Chromosome 13Q14 Deletion Syndrome |
|
Micropenis, Microphthalmia, Cryptorchidism, Supernumerary nipple |
OMIM:613884 |
Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia |
OMIM:617244 |
Frontorhiny |
|
Hypopituitarism, Diabetes insipidus, Microphthalmia |
ORPHA:391474 |
Fryns Syndrome |
|
Hypospadias, Bifid scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Bicornuate uterus, Ect... |
OMIM:229850 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Norrie Disease |
|
Hypoplasia of the iris, Buphthalmos, Microphthalmia |
OMIM:310600 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia |
ORPHA:891 |
Holoprosencephaly |
|
Panhypopituitarism, Cryptorchidism, Anophthalmia, Microphthalmia, Hypoplasia of penis, Diabetes i... |
ORPHA:2162 |
Fraser Syndrome |
|
Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Anophtha... |
ORPHA:2052 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... |
ORPHA:572333 |
Limb-Mammary Syndrome |
|
Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ... |
ORPHA:69085 |
Joubert Syndrome 14 |
|
Microphthalmia |
OMIM:614424 |
Hallermann-Streiff Syndrome |
|
Cryptorchidism, Microphthalmia |
OMIM:234100 |
Hallermann-Streiff Syndrome |
|
Hypothyroidism, Cryptorchidism, Microphthalmia |
ORPHA:2108 |
Incontinentia Pigmenti |
|
Supernumerary nipple, Breast aplasia, Breast hypoplasia, Hypoplasia of the fovea, Hypoplastic nip... |
OMIM:308300 |
Mosaic Variegated Aneuploidy Syndrome |
|
Vaginal neoplasm, Ambiguous genitalia, Hypothyroidism, Microphthalmia |
ORPHA:1052 |
Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia, Microphthalmia |
OMIM:300952 |
Roberts Syndrome |
|
Clitoral hypertrophy, Long penis, Cryptorchidism, Microphthalmia |
ORPHA:3103 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia |
OMIM:618571 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Decreased testicular size, Congenital hypoparathyroidism, Abnormal circulating follicle-stimulati... |
ORPHA:93325 |
Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Cys... |
ORPHA:322 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Cryptorchidism, Microphthalmia, Micropenis, Hypospadias, Clitoral hypoplasia |
OMIM:609945 |
Monosomy 9P |
|
Ambiguous genitalia, Hypospadias, Cryptorchidism, Microphthalmia |
ORPHA:261112 |
Basal Cell Nevus Syndrome 1 |
|
Ovarian fibroma, Ovarian carcinoma, Microphthalmia |
OMIM:109400 |
3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
Pallister-Hall Syndrome |
|
Small scrotum, Hydrometrocolpos, Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, ... |
ORPHA:672 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
Microgastria-Limb Reduction Defect Syndrome |
|
Rectovaginal fistula, Anophthalmia, Perineal fistula, Microphthalmia |
ORPHA:2538 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Small scrotum, Hypospadias, Cryptorchidism, Microphthalmia |
OMIM:616734 |
Histiocytoid Cardiomyopathy |
|
Microphthalmia, Congenital aphakia, Polycystic ovaries |
ORPHA:137675 |
Phocomelia, Schinzel Type |
|
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism |
ORPHA:2879 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia |
ORPHA:35173 |
Meckel Syndrome, Type 1 |
|
Abnormality of the uterus, Ambiguous genitalia, female, External genital hypoplasia, Cryptorchidi... |
OMIM:249000 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
Mend Syndrome |
|
Cryptorchidism, Microphthalmia |
ORPHA:401973 |
Persistent Hyperplastic Primary Vitreous |
|
Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia |
ORPHA:91495 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos |
OMIM:610758 |
Monosomy 9Q22.3 |
|
Ovarian fibroma, Microphthalmia |
ORPHA:77301 |
Charge Syndrome |
|
Bifid scrotum, Abnormal morphology of female internal genitalia, Cryptorchidism, Anophthalmia, Hy... |
ORPHA:138 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus, Supernumerary nipple |
ORPHA:1521 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Cryptorchidism, Annular pancreas, Microphthalmia |
OMIM:616975 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Supernumerary nipple |
ORPHA:1236 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia |
ORPHA:1352 |
Holoprosencephaly 9 |
|
Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit... |
OMIM:610829 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Adams-Oliver Syndrome |
|
Microphthalmia |
ORPHA:974 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia |
ORPHA:457284 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Hypothyroidism, Cryptorchidism, Microphthalmia |
OMIM:620005 |
Microphthalmia, Syndromic 2 |
|
Septate vagina, Adrenal insufficiency, Cryptorchidism, Anophthalmia, Phthisis bulbi, Hypothyroidi... |
OMIM:300166 |
X-Linked Intellectual Disability, Snyder Type |
|
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism |
ORPHA:3063 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Phthisis bulbi, Buphthalmos, Microphthalmia |
OMIM:221900 |
Von Hippel-Lindau Disease |
|
Elevated circulating catecholamine level, Neoplasm of the pancreas, Pancreatic islet cell adenoma... |
ORPHA:892 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Congenital hypothyroidism, Aplasia of the thymus, Hypothyroidism, Hypoplastic nipp... |
OMIM:620186 |
Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia |
OMIM:257850 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Penoscrotal hypospadia... |
OMIM:618280 |
Cockayne Syndrome B |
|
Micropenis, Hypoplasia of the iris, Cryptorchidism, Microphthalmia |
OMIM:133540 |
Microphthalmia With Limb Anomalies |
|
True anophthalmia, Cryptorchidism, Microphthalmia |
ORPHA:1106 |
Aicardi Syndrome |
|
Precocious puberty, Delayed puberty, Microphthalmia |
ORPHA:50 |
Townes-Brocks Syndrome |
|
Abnormal vagina morphology, Abnormality of the uterus, Bifid scrotum, Cryptorchidism, Hypothyroid... |
ORPHA:857 |
Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Adrenal gland dysgenesis, Microphthalmia, Bifid uterus, Hypospadias |
OMIM:236680 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia |
OMIM:613150 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Microphallus, Bilateral microphthalmos, Cryptorchidism, Hypospadias, Optic nerve hypoplasia |
ORPHA:468631 |
Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos, Cryptorchidism, Abnormal parotid gland morphology |
OMIM:154500 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia |
OMIM:302960 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia |
OMIM:251230 |
Fraser Syndrome 1 |
|
Clitoral hypertrophy, Bilateral microphthalmos, Cryptorchidism, Anophthalmia, Micropenis, Abnorma... |
OMIM:219000 |
Norrie Disease |
|
Uterine rupture, Hypoplasia of the iris, Cryptorchidism, Delayed puberty, Aplasia/Hypoplasia of t... |
ORPHA:649 |
Trichothiodystrophy |
|
Cryptorchidism, Bilateral microphthalmos, Gonadal dysgenesis |
ORPHA:33364 |
Premature Aging Syndrome, Penttinen Type |
|
Elevated circulating thyroid-stimulating hormone concentration, Microphthalmia |
OMIM:601812 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Microphthalmia |
OMIM:253800 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
Steinert Myotonic Dystrophy |
|
Male hypogonadism, Cholelithiasis, Impotence, Decreased response to growth hormone stimulation te... |
ORPHA:273 |
Atelis Syndrome 2 |
|
Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration, Microphthalmia |
OMIM:620185 |
22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Abnormality of the uterus, Cryptorchidism, Hypoplasia of the thymus, Hypothyroidi... |
ORPHA:567 |
Adams-Oliver Syndrome 1 |
|
Microphthalmia, Imperforate hymen, Supernumerary nipple |
OMIM:100300 |
Incontinentia Pigmenti |
|
Microphthalmia, Supernumerary nipple |
ORPHA:464 |
Holoprosencephaly 1 |
|
Micropenis, Diabetes insipidus, Adrenal hypoplasia, Microphthalmia |
OMIM:236100 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Hypospadias, Microphthalmia |
ORPHA:508498 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hyp... |
ORPHA:534 |
Duane-Radial Ray Syndrome |
|
Optic disc hypoplasia, Microphthalmia |
OMIM:607323 |
Renpenning Syndrome 1 |
|
Decreased testicular size, Hypospadias, Phimosis, Microphthalmia |
OMIM:309500 |
Charge Syndrome |
|
Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Decreased response to growth hormone st... |
OMIM:214800 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Microphthalmia |
OMIM:127000 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:251300 |
Oculoauricular Syndrome |
|
Macular hypoplasia, Microphakia, Phthisis bulbi, Microphthalmia |
OMIM:612109 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia |
OMIM:617729 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
Yunis-Varon Syndrome |
|
Clitoral hypertrophy, Bilateral microphthalmos, Cryptorchidism, Hypoplastic labia majora, Microph... |
ORPHA:3472 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:614643 |
Fontaine Progeroid Syndrome |
|
Small scrotum, Absent nipple, Cryptorchidism, Hypoplastic labia majora, Hypoplastic nipples, Micr... |
OMIM:612289 |
Microphthalmia, Syndromic 6 |
|
Small scrotum, Anterior hypopituitarism, Cryptorchidism, Anophthalmia, Hypothyroidism, Adrenal hy... |
OMIM:607932 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Adenoma sebaceum |
ORPHA:2612 |
Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Microphthalmia |
ORPHA:2092 |
Myhre Syndrome |
|
Cryptorchidism, Microphthalmia |
OMIM:139210 |
Papillorenal Syndrome |
|
Microphthalmia |
OMIM:120330 |
Stromme Syndrome |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:243605 |
Aicardi Syndrome |
|
Precocious puberty, Microphthalmia |
OMIM:304050 |
Fanconi Anemia, Complementation Group N |
|
Microphthalmia |
OMIM:610832 |
Steinfeld Syndrome |
|
Absent gallbladder, Microphthalmia |
OMIM:184705 |
Phace Syndrome |
|
Ectopic thyroid, Hypothyroidism, Microphthalmia, Lens coloboma, Optic nerve hypoplasia |
ORPHA:42775 |
Proboscis Lateralis |
|
External genital hypoplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
ORPHA:141099 |
Pierson Syndrome |
|
Hypoplasia of the iris, Rieger anomaly, Macular hypoplasia, Hypoplasia of the ciliary body, Micro... |
OMIM:609049 |
Cockayne Syndrome |
|
Absence of pubertal development, Cryptorchidism, Delayed puberty, Microphthalmia, Diabetes mellitus |
ORPHA:191 |
Focal Dermal Hypoplasia |
|
Supernumerary nipple, Aniridia, Cryptorchidism, Anophthalmia, Hypoplastic nipples, Labial hypopla... |
OMIM:305600 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia |
ORPHA:85167 |
Momo Syndrome |
|
Bilateral microphthalmos |
ORPHA:2563 |
Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism, Microphthalmia |
OMIM:256520 |
Degcags Syndrome |
|
Cryptorchidism, Chordee, Ambiguous genitalia, Microphthalmia, Hypospadias |
OMIM:619488 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia |
ORPHA:364577 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Microphthalmia |
OMIM:608940 |
Teebi-Shaltout Syndrome |
|
Microphthalmia |
OMIM:272950 |
Curry-Jones Syndrome |
|
Microphthalmia |
OMIM:601707 |
Lymphedema-Distichiasis Syndrome |
|
Microphthalmia |
OMIM:153400 |
Cat Eye Syndrome |
|
Microphthalmia |
OMIM:115470 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia |
ORPHA:2714 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia |
ORPHA:268249 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Microphthalmia |
ORPHA:959 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia |
OMIM:201180 |
Oculodentodigital Dysplasia |
|
Microphthalmia |
OMIM:164200 |
Holoprosencephaly 7 |
|
Panhypopituitarism, Bilateral microphthalmos, Microphthalmia |
OMIM:610828 |
Lowe Oculocerebrorenal Syndrome |
|
Cryptorchidism, Microphthalmia |
OMIM:309000 |
Witteveen-Kolk Syndrome |
|
Microphallus, Male urethral meatus stenosis, Decreased response to growth hormone stimulation tes... |
OMIM:613406 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Microphthalmia |
ORPHA:3186 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2526 |
Floating-Harbor Syndrome |
|
Varicocele, Glandular hypospadias, Cryptorchidism, Epididymal cyst, Hypospadias |
OMIM:136140 |
Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Rieger anomaly, Cryptorchidism, Aplasia of the uterus, Hypospadias |
OMIM:194190 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Supernumerary nipple, Cryptorchidism, Microphthalmia, Hypospadias |
OMIM:235730 |
Roberts-Sc Phocomelia Syndrome |
|
Clitoral hypertrophy, Long penis, Enlarged labia minora, Cryptorchidism, Microphthalmia, Bicornua... |
OMIM:268300 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Pancreatic cysts |
OMIM:274000 |
Cockayne Syndrome Type 3 |
|
Microphthalmia |
ORPHA:90324 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Cervical insufficiency |
OMIM:130050 |
Traboulsi Syndrome |
|
Microphthalmia |
OMIM:601552 |
Branchiooculofacial Syndrome |
|
Supernumerary nipple, Ectopic thymus tissue, Cryptorchidism, Anophthalmia, Microphthalmia, Hyposp... |
OMIM:113620 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, Aplasia of th... |
OMIM:276820 |
Okamoto Syndrome |
|
Bifid uterus, Abnormally large globe |
ORPHA:2729 |
Floating-Harbor Syndrome |
|
Precocious puberty, Varicocele, Cryptorchidism, Epididymal cyst, Hypospadias |
ORPHA:2044 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Cryptorchidism, Hypothyroidism, Rectoperineal fistula, Bifid uterus, Rectovaginal ... |
OMIM:107480 |
Osteoporosis-Pseudoglioma Syndrome |
|
Phthisis bulbi, Microphthalmia |
OMIM:259770 |