Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Absent testis |
OMIM:613094 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Mmep Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:3434 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Microphthalmia, Hypogonadotropic hypogonadism, Hypospadias |
ORPHA:141333 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Hypogonadism |
ORPHA:2528 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Bicornuate uterus, Cryptorchidism |
OMIM:615524 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Hypogonadism, External genital hypoplasia, Cryptorchidism |
ORPHA:363741 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration |
OMIM:615181 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Lissencephaly 8 |
|
Microphthalmia, Elevated circulating creatine kinase concentration |
OMIM:617255 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Elevated circulating creatine kinase concentration |
OMIM:613155 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal external genitalia |
ORPHA:3469 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hypogonadism, Cryptorchidism |
OMIM:601794 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Hypoalbuminemia |
OMIM:618805 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Cofs Syndrome |
|
Microphthalmia, Hypogonadism |
ORPHA:1466 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
OMIM:164180 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland |
OMIM:614402 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia, Cryptorchidism |
OMIM:601349 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
Warburg Micro Syndrome 1 |
|
Microphthalmia, External genital hypoplasia, Cryptorchidism |
OMIM:600118 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Pierpont Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:487825 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Pierpont Syndrome |
|
Microphthalmia, Micropenis, Cryptorchidism |
OMIM:602342 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Elevated circulating creatine kinase concentration |
OMIM:613153 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism |
ORPHA:1135 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Meckel Syndrome, Type 8 |
|
Ambiguous genitalia, Microphthalmia, Anophthalmia |
OMIM:613885 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Cryptorchidism |
OMIM:613730 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism |
ORPHA:48431 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Hypoplasia of penis |
ORPHA:2547 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia... |
OMIM:610125 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Elevated circulating creatine kinase concentration, Abnormally large globe |
OMIM:615249 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia |
ORPHA:324416 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Micropenis |
OMIM:308350 |
Cat-Eye Syndrome |
|
Microphthalmia |
ORPHA:195 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ambiguous genitalia, Microphthalmia |
ORPHA:93267 |
Seckel Syndrome 2 |
|
Microphthalmia, Hypospadias |
OMIM:606744 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Micropenis, Small scrotum |
OMIM:610756 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia, Micropenis, Hypocalcemia |
OMIM:602361 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Hyperphosphatemia, Hypocal... |
OMIM:241410 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Bresek Syndrome |
|
Decreased testicular size, Microphthalmia, Optic nerve hypoplasia, Cryptorchidism |
ORPHA:85284 |
Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Micr... |
ORPHA:2470 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Hypocalcemia |
ORPHA:1438 |
Joubert Syndrome 37 |
|
Microphthalmia, Micropenis, Decreased testicular size, Cryptorchidism |
OMIM:619185 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Abnormal circulating lipid concentration |
ORPHA:3191 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Hypospadias, Cryptorchidism, Microphthalmia |
ORPHA:77298 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Elevated circulating creatine kinase concentration |
OMIM:616538 |
Congenital Toxoplasmosis |
|
Microphthalmia |
ORPHA:858 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
Trisomy 13 |
|
Anophthalmia, Displacement of the urethral meatus, Cryptorchidism, Aplasia/Hypoplasia of the iris... |
ORPHA:3378 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Isosexual precocious puberty |
ORPHA:2788 |
Neurooculocardiogenitourinary Syndrome |
|
Bilateral cryptorchidism, Microphthalmia |
OMIM:618652 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration |
ORPHA:370959 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Anophthalmia, Cryptorchidism, Abnormal circulating creatine kinase concentra... |
ORPHA:899 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia |
OMIM:300887 |
Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Small scrotum, Hypogonadism, Cryptorchidism |
ORPHA:228390 |
Hydrolethalus |
|
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology |
ORPHA:2189 |
Warburg Micro Syndrome 4 |
|
Small scrotum, Cryptorchidism, Microphthalmia, Micropenis, Decreased testicular size |
OMIM:615663 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Cryptorchidism |
OMIM:214150 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia, Micropenis, Hemorrhagic ovarian cyst, Decreased testicular size |
ORPHA:335 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Microphthalmia |
OMIM:614105 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Bile duct proliferation |
OMIM:611561 |
Moebius Syndrome |
|
Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size |
OMIM:157900 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
ORPHA:139471 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Small scrotum, Hypospadias, Cryptorchidism, Abnormality of the scrotum, Microphthalmia |
ORPHA:2505 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:290 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Ovarian carcinoma, Ovarian neoplasm |
OMIM:617883 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Microphthalmia, Vaginal atresia, Optic nerve hypoplasia |
OMIM:617914 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
Frontonasal Dysplasia 1 |
|
Microphthalmia |
OMIM:136760 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Micropenis, Cryptorchidism |
OMIM:243310 |
Warburg Micro Syndrome 3 |
|
Small scrotum, Hypoplastic labia minora, Microphthalmia, Micropenis, Decreased testicular size |
OMIM:614222 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... |
OMIM:147250 |
Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia, Hypospadias, Cryptorchidism |
ORPHA:494344 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis |
OMIM:614225 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia, Cryptorchidism |
OMIM:618494 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia, Vaginal atresia |
OMIM:248450 |
Kapur-Toriello Syndrome |
|
Hypoplastic labia majora, Microphthalmia, Hypoplasia of penis |
ORPHA:2328 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Marden-Walker Syndrome |
|
Microphthalmia, Micropenis, Hypospadias, Cryptorchidism |
OMIM:248700 |
Micro Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Clitoral hypoplasia, Microphthalmia |
ORPHA:2510 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia |
OMIM:614219 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia, Small scrotum, Cryptorchidism |
ORPHA:2728 |
Trichothiodystrophy 3, Photosensitive |
|
Bilateral cryptorchidism, Microphthalmia |
OMIM:616395 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia, Elevated circulating creatine kinase concentration |
OMIM:613150 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Cryptorchidism |
ORPHA:404440 |
Meckel Syndrome, Type 2 |
|
Microphthalmia, Bile duct proliferation |
OMIM:603194 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:152950 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia, Unilateral cryptorchidism |
OMIM:206920 |
Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Microphthalmia |
OMIM:127000 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma |
OMIM:618914 |
Temtamy Syndrome |
|
Microphthalmia |
OMIM:218340 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia, Vaginal atresia, Cryptorchidism |
ORPHA:3301 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogonadism, Mic... |
ORPHA:2250 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Cryptorchidism, Bupht... |
OMIM:236670 |
Kapur-Toriello Syndrome |
|
Hypoplastic labia majora, Microphthalmia, Micropenis, Cryptorchidism |
OMIM:244300 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia |
OMIM:618804 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test |
OMIM:609053 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Supernumerary nipple, Cryptorchidism |
OMIM:612530 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Cryptorchidism |
OMIM:619135 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Cryptorchidism, Bilateral microphthalmos |
ORPHA:369891 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Anterio... |
OMIM:206900 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
Meckel Syndrome, Type 4 |
|
Microphthalmia, Bile duct proliferation |
OMIM:611134 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Microphthalmia, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration |
OMIM:614643 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia |
OMIM:169550 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Microphthalmia |
OMIM:619148 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia, Hypospadias, Clitoral hypertrophy |
OMIM:616449 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Microphthalmia, Elevated circulating creatine kinase concentration |
OMIM:253800 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Microphthalmia, Anophthalmia, Hypospadias |
OMIM:615877 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia, Supernumerary nipple |
OMIM:620098 |
Martsolf Syndrome 1 |
|
Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism |
OMIM:212720 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia, Cryptorchidism |
OMIM:613001 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
ORPHA:1791 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Cryptorchidism, Abnormality of the uterus, Abnormal fallopian tube morpholog... |
ORPHA:99776 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol |
OMIM:302960 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
Pseudotrisomy 13 Syndrome |
|
Microphthalmia, Micropenis, Bicornuate uterus, Cryptorchidism |
OMIM:264480 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia, Hypoplasia of penis, Cryptorchidism |
ORPHA:284160 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... |
OMIM:609049 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Refsum Disease |
|
Microphthalmia |
ORPHA:773 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
Ohdo Syndrome, X-Linked |
|
Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis |
OMIM:300895 |
Microphthalmia, Lenz Type |
|
Microphthalmia, Hypospadias, Cryptorchidism |
ORPHA:568 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia, Hypoalbuminemia |
OMIM:617729 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia, Micropenis, Cryptorchidism |
OMIM:614230 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia |
OMIM:617244 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia, Microphallus, Decreased response to growth hormone stimulation test, Cryptorchidism |
OMIM:603467 |
Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia, Hypoplastic nipples |
OMIM:156610 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus, Microphthalmia, Increased circulating gonadotropin level |
OMIM:110100 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Hypospadias, Unilateral microphthalmos |
OMIM:618874 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia |
ORPHA:891 |
Vacterl With Hydrocephalus |
|
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology |
ORPHA:3412 |
Joubert Syndrome 14 |
|
Microphthalmia |
OMIM:614424 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Microphthalmia, Hypoalbuminemia |
OMIM:251300 |
Jacobsen Syndrome |
|
Hypospadias, Cryptorchidism, Clitoral hypoplasia, Macular hypoplasia, Labial hypoplasia, Micropht... |
OMIM:147791 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Microphthalmia, Micropenis, Clitoral h... |
OMIM:309801 |
Fryns Syndrome |
|
Microphthalmia, Bicornuate uterus, Hypospadias, Cryptorchidism |
ORPHA:2059 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Hypogonadism |
OMIM:610651 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia |
OMIM:234050 |
Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
Frontonasal Dysplasia 2 |
|
Bilateral cryptorchidism, Microphthalmia |
OMIM:613451 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Microphthalmia, Aplasia of the uterus |
OMIM:619879 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Ambiguous genitalia, Microphthalmia, Thyroid hy... |
ORPHA:2166 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Supernumerary nipple, Breast aplasia, Hypoplastic nipples, Microphthalmi... |
OMIM:308300 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia |
OMIM:618571 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism |
OMIM:600901 |
3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
Mosaic Trisomy 1 |
|
Microphthalmia, Micropenis, Penile hypospadias |
ORPHA:1692 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Precocious puberty, Cr... |
OMIM:146510 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Hypogonadism |
OMIM:601675 |
Papillorenal Syndrome |
|
Microphthalmia, Elevated circulating creatinine concentration |
OMIM:120330 |
Dubowitz Syndrome |
|
Hypospadias, Cryptorchidism, Hypoplasia of the iris, Hypocholesterolemia, Microphthalmia |
OMIM:223370 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia, Hypospadias |
ORPHA:65286 |
Holoprosencephaly 9 |
|
Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth... |
OMIM:610829 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia, Male urethral meatus stenosis, Cholelithiasis, Hypospadias |
ORPHA:464738 |
Meckel Syndrome |
|
Anophthalmia, True hermaphroditism, Pancreatic fibrosis, Pancreatic cysts, Cryptorchidism, Male p... |
ORPHA:564 |
Bosma Arhinia Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Microphthal... |
OMIM:603457 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia |
ORPHA:35173 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
Fanconi Anemia, Complementation Group A |
|
Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism |
OMIM:227650 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos |
OMIM:610758 |
Joubert Syndrome 2 |
|
Microphthalmia, Hypoplastic male external genitalia |
OMIM:608091 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos, Hyperphosphatemia, Hypocalcemic tetany, Congenital hypoparathyroidism, ... |
ORPHA:93325 |
Frontorhiny |
|
Microphthalmia, Hypopituitarism |
ORPHA:391474 |
Cohen Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:193 |
Phace Association |
|
Microphthalmia, Optic nerve hypoplasia, Lingual thyroid |
OMIM:606519 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia |
ORPHA:1352 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia, Hypotriglyceridemia |
ORPHA:85167 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Thyroid C cell hyperplasia |
OMIM:300952 |
Adams-Oliver Syndrome |
|
Microphthalmia |
ORPHA:974 |
Holoprosencephaly |
|
Hyponatremia, Hypoplasia of penis, Anophthalmia, Cryptorchidism, Microphthalmia, Anterior hypopit... |
ORPHA:2162 |
Lowe Oculocerebrorenal Syndrome |
|
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevated maternal serum... |
OMIM:309000 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Mend Syndrome |
|
Microphthalmia, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Cryptorchidism |
ORPHA:401973 |
Cousin Syndrome |
|
Microphthalmia, Ambiguous genitalia, female, Ambiguous genitalia, male |
OMIM:260660 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia |
OMIM:257850 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Supernumerary nipple |
ORPHA:1236 |
Bartsocas-Papas Syndrome 1 |
|
Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Bicornuate uterus,... |
OMIM:263650 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism |
OMIM:227645 |
1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:250989 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Ambiguous genitalia, Microphthalmia, Cryptorchidism |
OMIM:616300 |
Pelvis-Shoulder Dysplasia |
|
Ambiguous genitalia, Bilateral microphthalmos |
ORPHA:2839 |
Meckel Syndrome, Type 1 |
|
External genital hypoplasia, Cryptorchidism, Ambiguous genitalia, female, Elevated amniotic fluid... |
OMIM:249000 |
2Q31.1 Microdeletion Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:251014 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601186 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Hypoplasia of the thymus, Rectovaginal fistul... |
ORPHA:861 |
Trisomy 18 |
|
Microphthalmia, Abnormal morphology of female internal genitalia, Cryptorchidism |
ORPHA:3380 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia |
OMIM:251230 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Annular pancreas, Microphthalmia, Micropenis |
OMIM:227646 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Anophthalmia, Hypospadias, Epispadias, Male pseudohermaphroditism, Abn... |
ORPHA:2556 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
Fanconi Anemia |
|
Hypospadias, Abnormal preputium morphology, Cryptorchidism, Aplasia/Hypoplasia of the iris, Azoos... |
ORPHA:84 |
Duane-Radial Ray Syndrome |
|
Microphthalmia, Optic disc hypoplasia |
OMIM:607323 |
Fraser Syndrome 2 |
|
Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus |
OMIM:617666 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Septate vagina, Uterus didelphys, Microphthalmia, Micropenis |
OMIM:617925 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Cryptorchidism |
OMIM:234100 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hyperparathyroidism, Hypercholesterolemia, Hypoammonemia, Cryptorchidism, Buphthalm... |
ORPHA:534 |
Fanconi Anemia, Complementation Group L |
|
Microphthalmia, Micropenis, Aplasia of the uterus |
OMIM:614083 |
Oculoauricular Syndrome |
|
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia |
OMIM:612109 |
Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia, Annular pancreas, Hypogonadism, Cryptorchidism |
OMIM:268400 |
Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Absent external genitalia, Adrenal gland agenesis, Microphthalm... |
OMIM:273395 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Hydrocele testis, Hypoplastic nipples, Unconjugated hyperbi... |
OMIM:620186 |
Stromme Syndrome |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:243605 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Microphthalmia, Hypoplasia of the retina, Elevated circulating creatine kinase conce... |
OMIM:253280 |
Fryns Syndrome |
|
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl s... |
OMIM:229850 |
Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Ovarian fibroma, Ovarian carcinoma |
OMIM:109400 |
Incontinentia Pigmenti |
|
Microphthalmia, Supernumerary nipple |
ORPHA:464 |
Fraser Syndrome |
|
Hypoplasia of penis, Anophthalmia, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus,... |
ORPHA:2052 |
Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Microphthalmia |
ORPHA:2092 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Clitoral hypoplasia, Microphthalmia, Micropenis |
OMIM:609945 |
Premature Aging Syndrome, Penttinen Type |
|
Microphthalmia |
OMIM:601812 |
Monosomy 9Q22.3 |
|
Microphthalmia, Ovarian fibroma |
ORPHA:77301 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Adenoma sebaceum |
ORPHA:2612 |
Histiocytoid Cardiomyopathy |
|
Microphthalmia, Congenital aphakia, Polycystic ovaries |
ORPHA:137675 |
Steinfeld Syndrome |
|
Microphthalmia, Absent gallbladder |
OMIM:184705 |
Monosomy 9P |
|
Ambiguous genitalia, Microphthalmia, Hypospadias, Cryptorchidism |
ORPHA:261112 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Microphthalmia, Annular pancreas, Hypospadias, Cryptorchidism |
OMIM:616975 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Anophthalmia, Rectovaginal fistula, Perineal fistula |
ORPHA:2538 |
Mosaic Variegated Aneuploidy Syndrome |
|
Ambiguous genitalia, Microphthalmia, Vaginal neoplasm |
ORPHA:1052 |
Momo Syndrome |
|
Bilateral microphthalmos |
ORPHA:2563 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hypospadias, Cryptorchidism, Hypoplasia of the thymus, Abnormality of the ute... |
ORPHA:567 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia |
ORPHA:364577 |
Atelis Syndrome 2 |
|
Microphthalmia |
OMIM:620185 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:2108 |
Roberts Syndrome |
|
Microphthalmia, Long penis, Clitoral hypertrophy, Cryptorchidism |
ORPHA:3103 |
Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Micropenis, Supernumerary nipple, Cryptorchidism |
OMIM:613884 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Microphthalmia, Hypospadias, Optic nerve hypoplasia |
ORPHA:508498 |
Curry-Jones Syndrome |
|
Microphthalmia |
OMIM:601707 |
Teebi-Shaltout Syndrome |
|
Microphthalmia |
OMIM:272950 |
Cockayne Syndrome B |
|
Hypoplasia of the iris, Microphthalmia, Micropenis, Cryptorchidism |
OMIM:133540 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Charge Syndrome |
|
Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Labial hy... |
ORPHA:138 |
Lymphedema-Distichiasis Syndrome |
|
Microphthalmia |
OMIM:153400 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia, Small scrotum, Hypospadias, Cryptorchidism |
OMIM:616734 |
Cat Eye Syndrome |
|
Microphthalmia |
OMIM:115470 |
Trichothiodystrophy |
|
Cryptorchidism, Gonadal dysgenesis, Bilateral microphthalmos |
ORPHA:33364 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, True anophthalmia, Cryptorchidism |
ORPHA:1106 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia |
ORPHA:268249 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microphthalmia, Cryptorchidism |
OMIM:620005 |
Pallister-Hall Syndrome |
|
Thyroid hypoplasia, Hypopituitarism, Small scrotum, Hypospadias, Precocious puberty, Cryptorchidi... |
ORPHA:672 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia |
ORPHA:2714 |
Phace Syndrome |
|
Microphthalmia, Lens coloboma, Optic nerve hypoplasia, Ectopic thyroid |
ORPHA:42775 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalmos, Microphallus |
ORPHA:468631 |
Degcags Syndrome |
|
Hypospadias, Cryptorchidism, Chordee, Hyperbilirubinemia, Ambiguous genitalia, Microphthalmia |
OMIM:619488 |
Aicardi Syndrome |
|
Precocious puberty, Microphthalmia |
ORPHA:50 |
Charge Syndrome |
|
Hypoparathyroidism, Anophthalmia, Hypogonadotropic hypogonadism, Decreased response to growth hor... |
OMIM:214800 |
Acro-Renal-Ocular Syndrome |
|
Microphthalmia, Optic disc hypoplasia |
ORPHA:959 |
Fontaine Progeroid Syndrome |
|
Small scrotum, Absent nipple, Cryptorchidism, Hypoplastic labia majora, Hypoplastic nipples, Micr... |
OMIM:612289 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia |
OMIM:201180 |
Cockayne Syndrome |
|
Microphthalmia, Hyperuricemia, Cryptorchidism |
ORPHA:191 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Hypospadias, Septate vagina, Cryptorchidism, Phthisis bulbi, Microphthalmia |
OMIM:300166 |
Aicardi Syndrome |
|
Precocious puberty, Microphthalmia |
OMIM:304050 |
Yunis-Varon Syndrome |
|
Hypospadias, Cryptorchidism, Bilateral microphthalmos, Hypoplastic labia majora, Microphthalmia, ... |
ORPHA:3472 |
Oculodentodigital Dysplasia |
|
Microphthalmia |
OMIM:164200 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2526 |
Holoprosencephaly 7 |
|
Microphthalmia, Bilateral microphthalmos, Panhypopituitarism |
OMIM:610828 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Supernumerary nipple, Cryptorchidism, Clitoral hypoplasia, Hypoplastic nipples, Lab... |
OMIM:305600 |
Myhre Syndrome |
|
Microphthalmia, Cryptorchidism |
OMIM:139210 |
Proboscis Lateralis |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, External genital hypoplasia |
ORPHA:141099 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Absent gallbladder |
ORPHA:3186 |
Renpenning Syndrome 1 |
|
Microphthalmia, Hypospadias, Decreased testicular size, Phimosis |
OMIM:309500 |
Fraser Syndrome 1 |
|
Anophthalmia, Hypospadias, Cryptorchidism, Bilateral microphthalmos, Bicornuate uterus, Micropeni... |
OMIM:219000 |
Adams-Oliver Syndrome 1 |
|
Microphthalmia, Imperforate hymen, Supernumerary nipple |
OMIM:100300 |
Cockayne Syndrome Type 3 |
|
Microphthalmia |
ORPHA:90324 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia |
OMIM:601552 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi |
OMIM:259770 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia, Elevated circulating creatine kinase concentration |
OMIM:175780 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Microphthalmia, Abnormal vagina morphology |
OMIM:236680 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cryptorchidism, Rectovagi... |
ORPHA:857 |
Treacher Collins Syndrome 1 |
|
Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology |
OMIM:154500 |
Witteveen-Kolk Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Unilateral cryptorchidism, Ph... |
OMIM:613406 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Small scrotum, Female hypogonadism, Cryptorchidism, Microphthalmia, Anterior hypopi... |
OMIM:607932 |
Neu-Laxova Syndrome 1 |
|
Cryptorchidism, Microphthalmia, Bifid uterus |
OMIM:256520 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia |
OMIM:608670 |
Monosomy 13Q14 |
|
Microphthalmia |
ORPHA:1587 |
Holoprosencephaly 1 |
|
Microphthalmia, Micropenis |
OMIM:236100 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
OMIM:229400 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Cryptorchidism, Hypoplasia of the iris, Uterine rupture, Micropht... |
ORPHA:649 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Microphthalmia |
OMIM:235730 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia |
ORPHA:306542 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia |
OMIM:612474 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Microphthalmia, Lens coloboma |
OMIM:619539 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Hypospadias, Supernumerary nipple, Cryptorchidism, Microphthalmia |
OMIM:113620 |
Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Bicornuate uterus, Microphthalmia... |
OMIM:268300 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Hypospadias, Webbed penis, Septate vagina, Cryptorchidism, Hydrocele testis, Chord... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Hypospadias, Webbed penis, Septate vagina, Cryptorchidism, Hydrocele testis, Chord... |
ORPHA:2152 |
8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Bilateral microphthalmos, Optic nerve hypoplasia |
ORPHA:508488 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Hypospadias, Webbed penis, Septate vagina, Cryptorchidism, Hydrocele testis, Chord... |
ORPHA:261552 |
Holoprosencephaly 2 |
|
Microphthalmia, Anterior pituitary agenesis |
OMIM:157170 |
Microphthalmia, Syndromic 1 |
|
Microphthalmia, Anophthalmia, Hypospadias, Cryptorchidism |
OMIM:309800 |
Craniofacial Microsomia 1 |
|
Microphthalmia, Anophthalmia |
OMIM:164210 |