Testicular Torsion |
|
Testicular torsion, Torsion of appendix of testis |
OMIM:187400 |
Autism, Susceptibility To, 20 |
|
Impaired social interactions, Attention deficit hyperactivity disorder |
OMIM:618830 |
Microphthalmia, Isolated 4 |
|
Absent testis, Microphthalmia |
OMIM:613094 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
46,Xx Testicular Disorder Of Sex Development |
|
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size |
ORPHA:393 |
Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Gait ataxia, Attention deficit hyperactivity disorder, Shyness |
OMIM:618221 |
Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... |
OMIM:273250 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... |
OMIM:614840 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism |
ORPHA:1875 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty |
OMIM:618117 |
Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Anophthalmia, Bicornuate uterus, Microphthalmia |
OMIM:615524 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal dysgenesis with female appear... |
ORPHA:206484 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608631 |
Mmep Syndrome |
|
Cryptorchidism, Microphthalmia |
ORPHA:3434 |
Leydig Cell Hypoplasia |
|
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... |
ORPHA:755 |
46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism |
ORPHA:242 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... |
OMIM:300510 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Delayed puberty, Microphthalmia, Hypogonadism |
ORPHA:141333 |
Faciothoracogenital Syndrome |
|
Prominent scrotal raphe, Glandular hypospadias, Shawl scrotum, Microphthalmia |
OMIM:227320 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... |
OMIM:614837 |
Hepatic Adenomas, Familial |
|
Polycystic ovaries, Maturity-onset diabetes of the young |
OMIM:142330 |
Gombo Syndrome |
|
Delayed puberty, Microphthalmia |
OMIM:233270 |
Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency |
OMIM:608996 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Microphthalmia, External genital hypoplasia, Hypogonadism |
ORPHA:363741 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Decreased serum testosterone concentration, Mi... |
OMIM:614841 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Primary amenorrhea |
OMIM:617690 |
Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... |
ORPHA:199310 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... |
OMIM:617565 |
Familial Hyperprolactinemia |
|
Amenorrhea, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Menorrhagia, Female hypogonadism |
ORPHA:397685 |
Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia |
OMIM:248110 |
Xp22.3 Microdeletion Syndrome |
|
Aplasia/Hypoplasia affecting the eye, Hypogonadotropic hypogonadism, Secondary amenorrhea, Polycy... |
ORPHA:1643 |
Premature Ovarian Failure 12 |
|
Primary amenorrhea, Microphthalmia |
OMIM:616947 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... |
OMIM:612965 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Hypogonadism |
ORPHA:2528 |
Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Gon... |
OMIM:612964 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Microphthalmia, Hypogonadism |
OMIM:601794 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... |
ORPHA:754 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... |
ORPHA:1916 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... |
ORPHA:168563 |
Complete Androgen Insensitivity Syndrome |
|
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... |
ORPHA:99429 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Bilateral breast hypoplasia, Hypo... |
ORPHA:52901 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619665 |
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Urogenital sinus anomaly, Abnormality of the endocrine system, Hypoplasia of penis, Ambiguous gen... |
ORPHA:753 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619203 |
Premature Ovarian Failure 6 |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... |
OMIM:612310 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Partial Androgen Insensitivity Syndrome |
|
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... |
ORPHA:90797 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... |
ORPHA:261529 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea, Elevated circulating fo... |
OMIM:617442 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... |
OMIM:194072 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... |
ORPHA:325124 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia |
OMIM:613703 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:614129 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Poor eye contact |
ORPHA:324422 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... |
OMIM:233420 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Hereditary Breast And Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer |
ORPHA:145 |
Kennedy Disease |
|
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
Xk Aprosencephaly Syndrome |
|
Abnormal external genitalia, Microphthalmia |
ORPHA:3469 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty |
ORPHA:2229 |
Microphthalmia, Syndromic 8 |
|
Cryptorchidism, Microphthalmia |
OMIM:601349 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Mullerian Aplasia And Hyperandrogenism |
|
Amenorrhea, Abnormality of the endocrine system, Aplasia/Hypoplasia of the fallopian tube, Aplasi... |
OMIM:158330 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... |
ORPHA:90793 |
Ovarian Fibrothecoma |
|
Increased serum testosterone level, Abnormal endometrium morphology, Metrorrhagia, Abnormal circu... |
ORPHA:314478 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Amenorrhea, Abnormality of the urethra, Menorrhagia, Oligomenorrhea, Polycystic ovaries, Abnormal... |
ORPHA:2795 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Anophthalmia, Microphthalmia |
OMIM:164180 |
Ovarian Fibroma |
|
Ovarian fibroma, Gonadal calcification, Abnormality of the ovary |
ORPHA:314473 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis |
|
Hematocolpos, Uterus didelphys, Partial vaginal septum |
OMIM:192050 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... |
OMIM:228300 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati... |
OMIM:614842 |
Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Rudiger Syndrome |
|
Ovarian cyst, Bicornuate uterus, Micropenis |
OMIM:268650 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
Satoyoshi Syndrome |
|
Amenorrhea, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Ab... |
ORPHA:3130 |
Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormality of the uterus, Mi... |
ORPHA:2470 |
Cofs Syndrome |
|
Microphthalmia, Hypogonadism |
ORPHA:1466 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Spastic gait, Difficulty walking, Colpocephaly |
ORPHA:401815 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B... |
OMIM:278850 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism, Microphthalmia |
ORPHA:1135 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Estrogen Resistance |
|
Hyperinsulinemia, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:615363 |
Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology, Ataxia |
ORPHA:73256 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
Hsd10 Disease |
|
Ataxia, Abnormal social behavior, Gait disturbance, Choreoathetosis, Ventriculomegaly |
ORPHA:391417 |
Warburg Micro Syndrome 1 |
|
Cryptorchidism, External genital hypoplasia, Microphthalmia |
OMIM:600118 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... |
ORPHA:90796 |
Whim Syndrome 1 |
|
Abnormal morphology of female internal genitalia, Abnormality of female external genitalia |
OMIM:193670 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... |
OMIM:308700 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... |
OMIM:308750 |
Microphthalmia, Syndromic 5 |
|
Micropenis, Optic nerve hypoplasia, Anophthalmia, Ectopic posterior pituitary, Microphthalmia, Cr... |
OMIM:610125 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Gait imbalance, Abnormal lateral ventricle morphology, Gait ataxia |
ORPHA:488635 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Impot... |
ORPHA:432 |
Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Primary amenorrhea, Oligome... |
OMIM:615300 |
Pierpont Syndrome |
|
Cryptorchidism, Microphthalmia |
ORPHA:487825 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Increased serum testosterone level, Hypoplasia of the uterus, Primary... |
ORPHA:247768 |
Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
Pierpont Syndrome |
|
Cryptorchidism, Microphthalmia, Micropenis |
OMIM:602342 |
46,Xy Sex Reversal 8 |
|
Sex reversal, Ambiguous genitalia, Male pseudohermaphroditism, Cryptorchidism |
OMIM:614279 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Microphthalmia, Decreased testicular size, Micropenis |
ORPHA:335 |
Hymen, Imperforate |
|
Amenorrhea, Hematocolpos, Imperforate hymen, Hydrocolpos |
OMIM:237100 |
Vaginal Atresia |
|
Bicornuate uterus, Imperforate hymen, Uterus didelphys, Primary amenorrhea, Cervicitis, Transvers... |
ORPHA:65681 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Microphthalmia |
ORPHA:48431 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Microphthalmia |
ORPHA:2547 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Cryptorchidism, Decreased testicular size, Microphthalmia |
ORPHA:85284 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Hypoplasia of the ut... |
OMIM:202010 |
Hydrolethalus |
|
Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia |
ORPHA:2189 |
Congenital Hydrocephalus |
|
Hydrocephalus, Colpocephaly, Ventriculomegaly |
ORPHA:2185 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly |
OMIM:614870 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
Joubert Syndrome 37 |
|
Cryptorchidism, Microphthalmia, Decreased testicular size, Micropenis |
OMIM:619185 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Anophthalmia, Microphthalmia, Cryptorchidism |
ORPHA:77298 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Poor eye contact, Abnormal social behavior |
ORPHA:444002 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:289548 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:168558 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ambiguous genitalia, Microphthalmia |
ORPHA:93267 |
Functioning Gonadotropic Adenoma |
|
Impotence, Ovarian cyst, Central diabetes insipidus, Enlarged polycystic ovaries, Pituitary gonad... |
ORPHA:91348 |
Lumbar Syndrome |
|
Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Hypopl... |
ORPHA:83628 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Small scrotum, Micropenis |
OMIM:610756 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
Seckel Syndrome 2 |
|
Hypospadias, Microphthalmia |
OMIM:606744 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Cryptorchidism, Microphthalmia, Small scrotum, Hypogonadism |
ORPHA:228390 |
Microphthalmia With Brain And Digit Anomalies |
|
Cryptorchidism, Anophthalmia, Abnormality of the hypothalamus-pituitary axis, Microphthalmia |
ORPHA:139471 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... |
ORPHA:90301 |
Neurooculocardiogenitourinary Syndrome |
|
Bilateral cryptorchidism, Microphthalmia |
OMIM:618652 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Microphthalmia |
OMIM:614402 |
Warburg Micro Syndrome 2 |
|
Hypoplastic labia majora, Micropenis, Microphthalmia, Cryptorchidism, Small scrotum |
OMIM:614225 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... |
OMIM:614324 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Anophthalmia, Microphthalmia |
OMIM:221950 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Trisomy 13 |
|
Anophthalmia, Abnormal morphology of female internal genitalia, Microphthalmia, Displacement of t... |
ORPHA:3378 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Microphthalmia,... |
OMIM:110100 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Bilateral microphthalmos |
OMIM:608763 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Micropenis |
OMIM:308350 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Warburg Micro Syndrome 4 |
|
Micropenis, Decreased testicular size, Microphthalmia, Cryptorchidism, Small scrotum |
OMIM:615663 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Hypospadias, Microphthalmia, Cryptorchidism, Abnormality of the scrotum, Small scrotum |
ORPHA:2505 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
Fanconi Anemia, Complementation Group S |
|
Ovarian neoplasm, Microphthalmia |
OMIM:617883 |
Congenital Primary Aphakia |
|
Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye |
ORPHA:83461 |
Warburg Micro Syndrome 3 |
|
Micropenis, Hypoplastic labia minora, Decreased testicular size, Microphthalmia, Small scrotum |
OMIM:614222 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Male pseudohermaphroditism, Bilateral microphthalmos |
OMIM:600122 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle, Scissor gait |
ORPHA:363654 |
Microphthalmia, Isolated 3 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Hypoplasia of the uterus, Absence of pubertal development, Primary amenorrhea, ... |
ORPHA:785 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:600776 |
Osteoporosis-Pseudoglioma Syndrome |
|
Isosexual precocious puberty, Microphthalmia |
ORPHA:2788 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Hypogonadism |
OMIM:160900 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism |
OMIM:614851 |
Moebius Syndrome |
|
Hypogonadotropic hypogonadism, Microphthalmia, Decreased testicular size, Micropenis |
OMIM:157900 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula |
OMIM:617466 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... |
OMIM:235200 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Cryptorchidism, Small scrotum, Microphthalmia |
ORPHA:2728 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Hypospadias, Cryptorchidism, Small scrotum, Microphthalmia |
OMIM:616734 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation, Difficulty walking |
ORPHA:306669 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Ambiguous genitalia, female, Precocious puberty, Decreased ci... |
ORPHA:90795 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cryptorchidism, Microphthalmia |
OMIM:214150 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Hypoplastic labia majora, Microphthalmia |
ORPHA:2328 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperactive renin-angiotensin system, Ambiguous genitalia, female, Abnormal external genitalia, D... |
ORPHA:90794 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Abnormal social behavior |
ORPHA:101039 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Microphthalmia |
OMIM:212550 |
Tetraamelia-Multiple Malformations Syndrome |
|
Vaginal atresia, Cryptorchidism, Septo-optic dysplasia, Microphthalmia |
ORPHA:3301 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Uterus didelphys, Primary amenorrhea, Septate vagina, Aplasia of the uterus, ... |
OMIM:146255 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Micro Syndrome |
|
Hypoplasia of penis, Clitoral hypoplasia, Hypoplastic labia minora, Delayed puberty, Microphthalm... |
ORPHA:2510 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Microphthalmia |
OMIM:613885 |
Baraitser-Winter Syndrome 1 |
|
Cryptorchidism, Microphthalmia, Micropenis |
OMIM:243310 |
Hypoplasminogenemia |
|
Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis |
ORPHA:722 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, External genital hypoplasia, Anophthalmia, Microphthalmia, Cryptorchidism, H... |
ORPHA:2250 |
Amed Syndrome, Digenic |
|
Adrenal hypoplasia, Hypoplasia of the uterus |
OMIM:619151 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:617914 |
Microphthalmia, Isolated 8 |
|
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia |
OMIM:615113 |
Kapur-Toriello Syndrome |
|
Cryptorchidism, Microphthalmia, Hypoplastic labia majora, Micropenis |
OMIM:244300 |
Satoyoshi Syndrome |
|
Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
Dopa-Responsive Dystonia |
|
Inability to walk, Abnormal social behavior, Gait disturbance, Difficulty walking, Ventriculomegaly |
ORPHA:255 |
Ritscher-Schinzel Syndrome 3 |
|
Cryptorchidism, Microphthalmia |
OMIM:619135 |
Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Cryptorchidism, Microphthalmia |
ORPHA:494344 |
46,Xy Sex Reversal 4 |
|
Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... |
OMIM:154230 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:218670 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia |
ORPHA:324416 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Optic nerve hypoplasia, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microph... |
ORPHA:137902 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Cat-Eye Syndrome |
|
Microphthalmia |
ORPHA:195 |
Polymicrogyria Due To Tubb2B Mutation |
|
Lateral ventricle dilatation, Attention deficit hyperactivity disorder, Agenesis of corpus callosum |
ORPHA:300573 |
Gracile Bone Dysplasia |
|
Microphthalmia, Aniridia, Micropenis |
OMIM:602361 |
Trichothiodystrophy 3, Photosensitive |
|
Bilateral cryptorchidism, Microphthalmia |
OMIM:616395 |
Woodhouse-Sakati Syndrome |
|
Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, Hypergonadotrop... |
OMIM:241080 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microphthalmia |
ORPHA:1528 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Kennerknecht syndrome |
|
Agonadism, Hypoplasia of the uterus |
OMIM:600908 |
Marden-Walker Syndrome |
|
Hypospadias, Cryptorchidism, Microphthalmia, Micropenis |
OMIM:248700 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Pseudotrisomy 13 Syndrome |
|
Bicornuate uterus, Micropenis, Adrenal hypoplasia, Microphthalmia, Cryptorchidism |
OMIM:264480 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Hypoplasia of the iris, Microphthalmia |
OMIM:613001 |
Popliteal Pterygium Syndrome |
|
Hypoplasia of the uterus, Bifid scrotum, Small scrotum, Hypoplasia of the vagina, Cryptorchidism,... |
OMIM:119500 |
Woodhouse-Sakati Syndrome |
|
Hypoplasia of the uterus, Hyperinsulinemia, Decreased response to growth hormone stimulation test... |
ORPHA:3464 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Elevated circulat... |
OMIM:305400 |
Lamb-Shaffer Syndrome |
|
Ataxia, Hyperactivity, Abnormal social behavior |
ORPHA:530983 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Cryptorchidism, Microphthalmia |
ORPHA:404440 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Micropenis, Hypogonadotropic hypogonadism, Hypospadias, Optic nerve hypoplas... |
OMIM:206900 |
Congenital Toxoplasmosis |
|
Microphthalmia |
ORPHA:858 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Uterus didelphys, Septate vagina, Aplasia of the uterus, Diabetes mellitus, V... |
ORPHA:2237 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Type I diabetes mellitus, Microphthalmia |
ORPHA:290 |
Walker-Warburg Syndrome |
|
Cryptorchidism, Anophthalmia, Hypoplasia of penis, Microphthalmia |
ORPHA:899 |
Bosma Arhinia Microphthalmia Syndrome |
|
Micropenis, Hypogonadotropic hypogonadism, Hypospadias, Primary amenorrhea, Microphthalmia, Crypt... |
OMIM:603457 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly |
OMIM:618731 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia |
OMIM:614219 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Abnormal fallopian tube morphology, Abnormality of the uterus, Microphthalmi... |
ORPHA:99776 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Vacterl With Hydrocephalus |
|
Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia |
ORPHA:3412 |
Lissencephaly 8 |
|
Microphthalmia |
OMIM:617255 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Unilateral microphthalmos, Macroorchidism |
OMIM:618874 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Cryptorchidism, Supernumerary nipple, Microphthalmia |
OMIM:612530 |
Meckel Syndrome 14 |
|
Aplasia of the uterus, Ambiguous genitalia, Microphthalmia |
OMIM:619879 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Loss of ambulation, Poor eye contact, Tip-toe gait, No social interaction, Lateral ventricle dila... |
ORPHA:565624 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation, Microphthalmia |
OMIM:611561 |
Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes insipidus, Testicular atrophy, Diabetes mellitus |
OMIM:222300 |
Congenital Factor Vii Deficiency |
|
Ovarian cyst, Menorrhagia |
ORPHA:327 |
Oeis Complex |
|
Labial hypoplasia, Ambiguous genitalia, female, Vesicovaginal fistula, Ambiguous genitalia, male,... |
OMIM:258040 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Chordee, Hypoplasia of the uterus, Micropenis, Hypospadias, Ovotestis, Clitoral hypertrophy, Micr... |
OMIM:309801 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... |
ORPHA:465508 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:615181 |
Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ataxia, Inability to walk, Partial agenesis of the corpus callosum, Lateral ventricle dilatation,... |
ORPHA:79243 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Hydrocephalus, Colpocephaly, Ventriculomegaly, Ataxia |
OMIM:619833 |
Solitary Median Maxillary Central Incisor |
|
Decreased response to growth hormone stimulation test, Anophthalmia, Anterior hypopituitarism, Mi... |
OMIM:147250 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Gait imbalance, Dysplastic corpus callosum, Gait disturbance, Lateral ventricle dilatation, Diffi... |
ORPHA:488627 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Hypospadias, Precocious puberty, Anophthalmia, Microphthalmia |
OMIM:615877 |
Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
8Q21.11 Microdeletion Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Microphthalmia |
ORPHA:284160 |
Microphthalmia, Syndromic 9 |
|
Hypoplasia of the uterus, Bicornuate uterus, Anophthalmia, Bilateral microphthalmos, Cryptorchidism |
OMIM:601186 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Hypogonadism |
OMIM:610651 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris |
OMIM:604229 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Colpocephaly, Ventriculomegaly, Communicating hydrocephalus |
OMIM:615219 |
Ovarian Hyperstimulation Syndrome |
|
Increased serum testosterone level, Ovarian cyst, Hemorrhagic ovarian cyst, Increased circulating... |
ORPHA:64739 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Tetraamelia Syndrome 1 |
|
Urethral atresia, Absent external genitalia, Hypoplasia of the fallopian tube, Microphthalmia, Va... |
OMIM:273395 |
Malan Overgrowth Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly, Episodic ataxia |
ORPHA:420179 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Microphallus, Microphthalmia |
OMIM:603467 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cryptorchidism, Microphthalmia, Micropenis |
OMIM:614230 |
Fanconi Anemia, Complementation Group A |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility, Microphthalmia |
OMIM:227650 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Cryptorchidism, Bilateral microphthalmos |
ORPHA:369891 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Hypospadias, Penoscrotal transposition, Microphthalmia, Cryptorchidism |
OMIM:619148 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Pre... |
OMIM:157640 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia |
OMIM:613153 |
Martsolf Syndrome 1 |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Microphthalmia, Micropenis |
OMIM:212720 |
Fanconi Anemia, Complementation Group E |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Microphthalmia |
OMIM:600901 |
Bardet-Biedl Syndrome 1 |
|
Nephrogenic diabetes insipidus, Micropenis, Decreased testicular size, Hypogonadism, Vaginal atre... |
OMIM:209900 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormon... |
OMIM:609441 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating androgen concentration, Abnormal external genitalia, Decreased circulating ... |
ORPHA:95699 |
Fryns Syndrome |
|
Hypospadias, Cryptorchidism, Bicornuate uterus, Microphthalmia |
ORPHA:2059 |
Subaortic Stenosis-Short Stature Syndrome |
|
Type II diabetes mellitus, Microphthalmia |
ORPHA:3191 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... |
OMIM:610475 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Frontonasal Dysplasia 1 |
|
Microphthalmia |
OMIM:136760 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
Microphthalmia, Lenz Type |
|
Hypospadias, Cryptorchidism, Microphthalmia |
ORPHA:568 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the uterus, Aplasia of the vagina, Urethral atresia, Absent external genitalia |
OMIM:271520 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
Pontocerebellar Hypoplasia Type 7 |
|
Micropenis, Gonadal dysgenesis, Absent penis, Ambiguous genitalia, Abnormal scrotal rugation, Cli... |
ORPHA:284339 |
Weiss-Kruszka Syndrome |
|
Agenesis of corpus callosum, Colpocephaly, Ventriculomegaly |
OMIM:618619 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the hypothalamus-pituitary axis, Ambiguous genit... |
ORPHA:2166 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Microphthalmia |
ORPHA:85194 |
Jacobsen Syndrome |
|
Annular pancreas, Labial hypoplasia, Hypospadias, Macular hypoplasia, Clitoral hypoplasia, Microp... |
OMIM:147791 |
Monosomy 18P |
|
Hypothyroidism, Microphthalmia |
ORPHA:1598 |
Cousin Syndrome |
|
Ambiguous genitalia, female, Ambiguous genitalia, male, Microphthalmia |
OMIM:260660 |
Cach Syndrome |
|
Lateral ventricle dilatation, Dysmetria, Truncal ataxia, Limb ataxia |
ORPHA:135 |
Autosomal Dominant Keratitis |
|
Hypoplastic iris stroma, Hypoplasia of the fovea, Bilateral microphthalmos, Macular hypoplasia, A... |
ORPHA:2334 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
Fanconi Anemia, Complementation Group I |
|
Hypothyroidism, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Mi... |
OMIM:609053 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Inability to walk, Normal pressure hydrocephalus, Partial agenesis of the corpus callosum, Latera... |
ORPHA:300570 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:614833 |
Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation, Microphthalmia |
OMIM:603194 |
Meckel Syndrome |
|
Urethral atresia, Pancreatic fibrosis, Male pseudohermaphroditism, Anophthalmia, Ambiguous genita... |
ORPHA:564 |
Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:77299 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
Frontonasal Dysplasia 2 |
|
Bilateral cryptorchidism, Microphthalmia |
OMIM:613451 |
Pallister-Hall Syndrome |
|
Precocious puberty, Distal urethral duplication, Decreased response to growth hormone stimulation... |
OMIM:146510 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Dysmetria, Dilated fourth ventricle, Athetosis, Lateral ventricle dilatation, Difficulty ... |
ORPHA:572798 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Ambiguous genitalia, Cryptorchidism, Microphthalmia |
OMIM:616300 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Lateral ventricle dilatation, Dilated fourth ventricle, Dandy-Walker malformation |
ORPHA:3078 |
Joubert Syndrome 14 |
|
Microphthalmia |
OMIM:614424 |
Fanconi Anemia, Complementation Group L |
|
Aplasia of the uterus, Microphthalmia, Micropenis |
OMIM:614083 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Microphthalmia |
OMIM:152950 |
Fanconi Anemia, Complementation Group C |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Microphthalmia |
OMIM:227645 |
Fraser Syndrome |
|
Abnormal vagina morphology, Urethral atresia, Hypoplasia of penis, Bicornuate uterus, Hypospadias... |
ORPHA:2052 |
Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Micropenis, Optic nerve hy... |
OMIM:610829 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Hypoplasia of the uterus, Female infertility, Streak ovary, Hypergonadotropic hypogonadism, Eleva... |
ORPHA:572333 |
Halperin-Birk Syndrome |
|
Inability to walk, Agenesis of corpus callosum, Colpocephaly, Ventriculomegaly |
OMIM:618651 |
Meckel Syndrome, Type 4 |
|
Bile duct proliferation, Microphthalmia |
OMIM:611134 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
Phocomelia, Schinzel Type |
|
Aplasia of the uterus, Cryptorchidism, Hypoplasia of penis |
ORPHA:2879 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
Chromosome 17Q12 Deletion Syndrome |
|
Ovarian cyst, Unicornuate uterus, Urethral stenosis, Aplasia of the uterus, Aplasia of the vagina... |
OMIM:614527 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Microphthalmia |
OMIM:615249 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Hypogonadism |
OMIM:601675 |
Trisomy 18 |
|
Abnormal morphology of female internal genitalia, Cryptorchidism, Microphthalmia |
ORPHA:3380 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Anterior segment of eye aplasia, Aniridia, Microphthalmia |
OMIM:610256 |
Limb-Mammary Syndrome |
|
Absent nipple, Bilateral breast hypoplasia, Primary amenorrhea, Hypoplastic nipples, Breast aplas... |
ORPHA:69085 |
Cohen Syndrome |
|
Cryptorchidism, Delayed puberty, Microphthalmia |
ORPHA:193 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Bifid uterus, Supernumerary nipple, Abnormal reproductive system morphology |
ORPHA:1521 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Microphthalmia |
OMIM:206920 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micropenis, Uterus didelphys, Septate vagina, Absent gallbladder, Microphthalmia |
OMIM:617925 |
Childhood Absence Epilepsy |
|
Attention deficit hyperactivity disorder, Abnormal social behavior |
ORPHA:64280 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
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Lens coloboma, Microphthalmia |
OMIM:618914 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
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Buphthalmos, Optic nerve hypoplasia, Hypoplastic male external genitalia, Microphthalmia, Cryptor... |
OMIM:236670 |
Microphthalmia With Linear Skin Defects Syndrome |
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Microphthalmia, Abnormal penis morphology, Male pseudohermaphroditism, Hypospadias, Anophthalmia,... |
ORPHA:2556 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
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Microphthalmia |
ORPHA:163649 |
Fanconi Anemia |
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Absent testis, Bicornuate uterus, Abnormal preputium morphology, Decreased fertility in males, Mi... |
ORPHA:84 |
Bartsocas-Papas Syndrome 1 |
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Absent external genitalia, Bicornuate uterus, Micropenis, Ambiguous genitalia, Hypoplastic male e... |
OMIM:263650 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia |
ORPHA:457284 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Optic nerve hypoplasia, Microphthalmia |
ORPHA:370959 |
X-Linked Intellectual Disability, Wilson Type |
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Lateral ventricle dilatation |
ORPHA:85290 |
Exstrophy-Epispadias Complex |
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Female sexual dysfunction, Cystocele, Bifid scrotum, Bifid uterus, Absent penis, Bifid penis, Pen... |
ORPHA:322 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
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Microphthalmia |
OMIM:300863 |
1Q21.1 Microdeletion Syndrome |
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Cryptorchidism, Microphthalmia |
ORPHA:250989 |
Sandestig-Stefanova Syndrome |
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Microphthalmia |
OMIM:618804 |
Treacher-Collins Syndrome |
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Hypoplasia of penis, Hypoplasia of the thymus, Abnormality of the adrenal glands, Thyroid hypopla... |
ORPHA:861 |
3Q29 Microdeletion Syndrome |
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Hypospadias, Microphthalmia |
ORPHA:65286 |
Slc35A2-Cdg |
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Lateral ventricle dilatation, Inability to walk, Dandy-Walker malformation |
ORPHA:356961 |
Coffin-Siris Syndrome 9 |
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Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Delayed puberty |
OMIM:615866 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
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Microphthalmia |
ORPHA:231736 |
Fanconi Anemia, Complementation Group D2 |
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Annular pancreas, Micropenis, Hypergonadotropic hypogonadism, Microphthalmia, Cryptorchidism |
OMIM:227646 |
Mosaic Trisomy 1 |
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Penile hypospadias, Microphthalmia, Micropenis |
ORPHA:1692 |
Stevenson-Carey Syndrome |
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Microphthalmia |
OMIM:611961 |
Trichothiodystrophy 4, Nonphotosensitive |
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Microphthalmia, Decreased fertility |
OMIM:234050 |
Carney Complex |
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Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... |
ORPHA:1359 |
Rodrigues Blindness |
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Microphthalmia |
OMIM:268320 |
Joubert Syndrome 2 |
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Hypoplastic male external genitalia, Microphthalmia |
OMIM:608091 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
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Ovarian cyst, Pancreatic adenocarcinoma, Endometrial carcinoma |
ORPHA:454840 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
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Lateral ventricle dilatation |
ORPHA:284417 |
Distal Monosomy 10Q |
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Lateral ventricle dilatation, Ataxia, Attention deficit hyperactivity disorder, Unsteady gait |
ORPHA:96148 |
Chromosome 17Q12 Duplication Syndrome |
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Microphthalmia |
OMIM:614526 |
Renal Cysts And Diabetes Syndrome |
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Hypoplasia of the uterus, Bicornuate uterus, Atretic vas deferens, Reduced sperm motility, Maturi... |
OMIM:137920 |
Otodental Syndrome |
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Lens coloboma, Microphthalmia |
ORPHA:2791 |
2Q31.1 Microdeletion Syndrome |
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Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Microphthalmia |
ORPHA:251014 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Abnormal social behavior, Tip-toe gait, Progressive gait ataxia, Gait ataxia |
ORPHA:309256 |
Bilateral Generalized Polymicrogyria |
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Lateral ventricle dilatation |
ORPHA:208447 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
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Microphthalmia, Hypoplastic nipples |
OMIM:156610 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Cholelithiasis, Hypospadias, Male urethral meatus stenosis, Microphthalmia |
ORPHA:464738 |
Exudative Vitreoretinopathy 2, X-Linked |
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Microphthalmia |
OMIM:305390 |
Rothmund-Thomson Syndrome, Type 2 |
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Annular pancreas, Cryptorchidism, Microphthalmia, Hypogonadism |
OMIM:268400 |
Dubowitz Syndrome |
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Hypospadias, Cryptorchidism, Hypoplasia of the iris, Microphthalmia |
OMIM:223370 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
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Lateral ventricle dilatation, Dilated third ventricle, Dysplastic corpus callosum, Attention defi... |
ORPHA:544488 |
Fg Syndrome Type 1 |
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Broad-based gait, Hydrocephalus, Abnormal social behavior, Attention deficit hyperactivity disord... |
ORPHA:93932 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
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Optic nerve hypoplasia, Bilateral microphthalmos |
OMIM:607597 |
Pelvis-Shoulder Dysplasia |
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Ambiguous genitalia, Bilateral microphthalmos |
ORPHA:2839 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
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Microphthalmia |
OMIM:619053 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
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Lateral ventricle dilatation |
ORPHA:178469 |
Phace Association |
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Optic nerve hypoplasia, Congenital hypothyroidism, Lingual thyroid, Microphthalmia |
OMIM:606519 |
Frontofacionasal Dysplasia |
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Microphthalmia |
ORPHA:1791 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
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Microphthalmia |
ORPHA:163966 |
Oculotrichoanal Syndrome |
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Anophthalmia, Microphthalmia |
ORPHA:2717 |
Basal Cell Nevus Syndrome |
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Ovarian fibroma, Ovarian carcinoma, Microphthalmia |
OMIM:109400 |
Refsum Disease |
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Microphthalmia |
ORPHA:773 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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Ataxia, Abnormal social behavior |
ORPHA:1020 |
Histiocytoid Cardiomyopathy |
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Polycystic ovaries, Congenital aphakia, Microphthalmia |
ORPHA:137675 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Chromosome 13Q14 Deletion Syndrome |
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Cryptorchidism, Microphthalmia, Supernumerary nipple, Micropenis |
OMIM:613884 |
Charge Syndrome |
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Labial hypoplasia, Micropenis, Bifid scrotum, Hypogonadotropic hypogonadism, Abnormality of the a... |
ORPHA:138 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Lateral ventricle dilatation, Ataxia, Unsteady gait |
ORPHA:457279 |
Holoprosencephaly |
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Microphthalmia, Hypoplasia of penis, Panhypopituitarism, Anophthalmia, Anterior hypopituitarism, ... |
ORPHA:2162 |
Roberts Syndrome |
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Cryptorchidism, Microphthalmia, Clitoral hypertrophy, Long penis |
ORPHA:3103 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia |
OMIM:169550 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
Spondyloenchondrodysplasia |
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Abnormal lateral ventricle morphology, Ventriculomegaly |
ORPHA:1855 |
Fryns Syndrome |
|
Bicornuate uterus, Bifid scrotum, Hypospadias, Ectopic pancreatic tissue, Shawl scrotum, Micropht... |
OMIM:229850 |
Townes-Brocks Syndrome |
|
Abnormal vagina morphology, Microphthalmia, Hypoplasia of penis, Bifid scrotum, Hypospadias, Rect... |
ORPHA:857 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Bilateral microphthalmos, Microphthalmia |
ORPHA:2399 |
Frontorhiny |
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Hypopituitarism, Microphthalmia, Diabetes insipidus |
ORPHA:391474 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Dilated third ventricle, Lateral ventricle dilatation, Ventriculomegaly, Colpocephaly, Dandy-Walk... |
ORPHA:397715 |
Hallermann-Streiff Syndrome |
|
Hypothyroidism, Cryptorchidism, Microphthalmia |
ORPHA:2108 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Mosaic Variegated Aneuploidy Syndrome |
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Hypothyroidism, Ambiguous genitalia, Vaginal neoplasm, Microphthalmia |
ORPHA:1052 |
Hydrolethalus Syndrome 1 |
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Abnormal vagina morphology, Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Microphthalmia |
OMIM:236680 |
Meckel Syndrome, Type 1 |
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Ambiguous genitalia, female, Ambiguous genitalia, male, External genital hypoplasia, Adrenal hypo... |
OMIM:249000 |
16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Ventriculomegaly |
ORPHA:261250 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Gait disturbance, Lateral ventricle dilatation, Ataxia, Inability to walk |
ORPHA:2822 |
Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
Monosomy 9Q22.3 |
|
Ovarian fibroma, Microphthalmia |
ORPHA:77301 |
Pallister-Hall Syndrome |
|
Central adrenal insufficiency, Ambiguous genitalia, Thyroid hypoplasia, Microphthalmia, Small scr... |
ORPHA:672 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Micropenis, Unilateral cryptorchidism, Ambiguous genitalia, Penoscrotal hypospadia... |
OMIM:618280 |
Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
Hallermann-Streiff Syndrome |
|
Cryptorchidism, Microphthalmia |
OMIM:234100 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia |
ORPHA:891 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Micropenis, Bifid scrotum, Hypospadias, Clitoral hypoplasia, Microphthalmia, Cryptorchidism |
OMIM:609945 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Microphthalmia |
OMIM:120200 |
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Microphthalmia |
OMIM:600123 |
Monosomy 9P |
|
Ambiguous genitalia, Cryptorchidism, Hypospadias, Microphthalmia |
ORPHA:261112 |
Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
Mend Syndrome |
|
Cryptorchidism, Microphthalmia |
ORPHA:401973 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Agenesis of corpus callosum, Colpocephaly, Ventriculomegaly |
OMIM:617260 |
Microgastria-Limb Reduction Defect Syndrome |
|
Rectovaginal fistula, Anophthalmia, Perineal fistula, Microphthalmia |
ORPHA:2538 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Clitoral hypoplasia, Go... |
OMIM:618419 |
Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Annular pancreas, Hypospadias, Cryptorchidism, Microphthalmia |
OMIM:616975 |
Curry-Jones Syndrome |
|
Microphthalmia |
OMIM:601707 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Congenital hypoparathyroidism, Bilateral microphthalmos, Decreased testicular size, Abnormal circ... |
ORPHA:93325 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism |
ORPHA:3063 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Hypothyroidism, Cryptorchidism, Microphthalmia |
OMIM:620005 |
Microphthalmia, Syndromic 2 |
|
Adrenal insufficiency, Phthisis bulbi, Hypospadias, Septate vagina, Anophthalmia, Hypothyroidism,... |
OMIM:300166 |
Cog5-Cdg |
|
Lateral ventricle dilatation, Truncal ataxia |
ORPHA:263487 |
48,Xxxy Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal social behavior |
ORPHA:96263 |
Norrie Disease |
|
Buphthalmos, Hypoplasia of the iris, Microphthalmia |
OMIM:310600 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia |
OMIM:251230 |
Adams-Oliver Syndrome 1 |
|
Supernumerary nipple, Imperforate hymen, Microphthalmia |
OMIM:100300 |
Norrie Disease |
|
Microphthalmia, Uterine rupture, Aplasia/Hypoplasia of the lens, Erectile dysfunction, Hypoplasia... |
ORPHA:649 |
Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism, Microphthalmia |
OMIM:256520 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia |
OMIM:618571 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia |
ORPHA:35173 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos |
OMIM:610758 |
Adams-Oliver Syndrome |
|
Microphthalmia |
ORPHA:974 |
3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
Prader-Willi Syndrome Due To Translocation |
|
Lateral ventricle dilatation, Impaired social interactions, Attention deficit hyperactivity disor... |
ORPHA:177907 |
Incontinentia Pigmenti |
|
Supernumerary nipple, Hypoplasia of the fovea, Hypoplastic nipples, Breast aplasia, Breast hypopl... |
OMIM:308300 |
Cockayne Syndrome B |
|