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 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism, Short thumb, Cataract |
OMIM:274205 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:312500 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Nodular Neuronal Heterotopia |
|
EEG abnormality, Abnormality of neuronal migration |
ORPHA:2149 |
Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Lym... |
OMIM:619126 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
EEG with changes in voltage, Hypsarrhythmia, Gray matter heterotopia, Pachygyria, Agyria |
ORPHA:1084 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria |
OMIM:615411 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Sub-Cortical Nodular Heterotopia |
|
Subcortical heterotopia, Abnormality of neuronal migration, EEG with focal slow activity, EEG wit... |
ORPHA:101029 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... |
OMIM:616860 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Polymicrogyria, Simplified gyral pattern, Abnorm... |
OMIM:604317 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Abnormal repetitive mannerisms, Abnormality of neuronal migration, Attention deficit hype... |
OMIM:618709 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Lissencephaly 1 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria |
OMIM:607432 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cataract |
ORPHA:79281 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Uveal Melanoma |
|
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis |
ORPHA:39044 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Symmetrical Thalamic Calcifications |
|
EEG abnormality, Ataxia, Abnormality of neuronal migration, Cognitive impairment |
ORPHA:1314 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia, Hypsarrhythmia |
OMIM:608097 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, S... |
OMIM:224120 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Lissencephaly 3 |
|
Ataxia, Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, ... |
OMIM:611603 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Lissencephaly, X-Linked, 1 |
|
Ataxia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria |
OMIM:300067 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... |
ORPHA:444463 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Microlissencephaly |
|
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... |
ORPHA:1083 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Inability to walk, Periventricular nodular heterotopia |
OMIM:618572 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Encopresis, Depression, Irritability, Tics... |
ORPHA:66624 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Hemimegalencephaly |
|
EEG with polyspike wave complexes, Interictal EEG abnormality, EEG with burst suppression, Gray m... |
ORPHA:99802 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia, Hypsarrhythmia |
OMIM:615544 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, EEG with generalized polyspikes, Aggressive behavior, Abnormality of neuro... |
ORPHA:163681 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract, 3-Methylglutaconic aciduria |
OMIM:619813 |
Maternal Hyperthermia-Induced Birth Defects |
|
EEG abnormality, Abnormality of neuronal migration, Cognitive impairment |
ORPHA:2216 |
Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Cataract, Hypospadias, Aplasia/Hypoplasia of the lens, Cryptorchidism, Genu ... |
ORPHA:1381 |
1Q21.1 Microduplication Syndrome |
|
Cataract, Hypospadias, Cryptorchidism, Hip dislocation, Hip dysplasia, Tetralogy of Fallot |
ORPHA:250994 |
Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Cataract, Ventricular septal defect, Elevated circulating aspartate aminotransferas... |
OMIM:614876 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Iatrogenic Botulism |
|
Mydriasis |
ORPHA:254509 |
Wound Botulism |
|
Mydriasis |
ORPHA:178475 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis |
ORPHA:247815 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Focal EEG discharges with secondary generalization, Anorexia, Ag... |
ORPHA:3077 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... |
OMIM:615513 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Microcoria, Congenital |
|
Microcoria, Miosis, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
Orotic Aciduria |
|
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi... |
OMIM:619220 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... |
OMIM:613101 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cryptorchidism, Short metacarpal, Short thumb, Cataract |
ORPHA:2489 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Cataract, Renal insufficiency, Cryptorchidism, Congenital... |
ORPHA:2377 |
Galactosemia Ii |
|
Cataract, Galactosuria, Prolonged neonatal jaundice |
OMIM:230200 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Recurrent sinopulmonary infections, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimm... |
OMIM:619846 |
Botulism |
|
Mydriasis |
ORPHA:1267 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
ORPHA:95613 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Foodborne Botulism |
|
Mydriasis |
ORPHA:228371 |
Myopia 27, Autosomal Dominant |
|
Increased axial length of the globe |
OMIM:618827 |
Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphop... |
OMIM:619164 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
Infant Botulism |
|
Keratoconjunctivitis sicca, Mydriasis |
ORPHA:178478 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center, ... |
OMIM:608184 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Gray matter heterotopia, Lissencephaly, Abnormal temper tantrums, Att... |
ORPHA:300573 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Cataract, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Cystic renal d... |
OMIM:613730 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Cataract, Ventricular septal defect, Cryptorchidism, Abnormal rib morphology... |
ORPHA:2772 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Periventricular nodular heterotopia, Abnormal repetitive mannerisms, Attention deficit hyperactiv... |
OMIM:620065 |
Miller Fisher Syndrome |
|
Anisocoria, Mydriasis |
ORPHA:98919 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract, Hypogonadism |
OMIM:254000 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:604213 |
Megalocornea |
|
Iridodonesis, Cataract, Miosis, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumi... |
OMIM:309300 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria |
ORPHA:79238 |
Kimura Disease |
|
Eosinophilia, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Atelectasis, L... |
OMIM:618278 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Recurr... |
OMIM:602450 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Periventricular heterotopia, Inability to walk, Unsteady gait, Simplified gyral pattern, Truncal ... |
OMIM:618273 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Cryptorchidism, Mydriasis |
OMIM:613834 |
Serotonin Syndrome |
|
Mydriasis |
ORPHA:43116 |
Senior-Loken Syndrome |
|
Cataract, Premature ovarian insufficiency, Congenital hepatic fibrosis, Chronic kidney disease, S... |
ORPHA:3156 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Gray matter heterotopia, Pachygyria, Difficulty walking, Tip-toe gait |
ORPHA:370980 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Woolly Hair Nevus |
|
Precocious puberty, Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Osteopetrosis, Autosomal Recessive 5 |
|
Stillbirth, Mydriasis |
OMIM:259720 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia |
OMIM:619101 |
Subependymal Nodular Heterotopia |
|
Interictal EEG abnormality, Abnormality of neuronal migration, Gray matter heterotopia, EEG with ... |
ORPHA:101030 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Martsolf Syndrome 2 |
|
Cataract, Overlapping toe, Hypogonadotropic hypogonadism, Camptodactyly of finger, Developmental ... |
OMIM:619420 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity, External genital hypoplasia, Tapered finger, Cryptorchidism, Abnormal ... |
ORPHA:1867 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Cataract, Toe syndactyly, Cryptorchidism, Cone-shape... |
OMIM:618958 |
Hypogonadism-Cataract Syndrome |
|
Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal... |
OMIM:240950 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Nausea, Abnormal fear-induced behavior, Diarrhea, Depression, Constipati... |
ORPHA:100924 |
Arachnoid Cyst |
|
Mydriasis |
ORPHA:2356 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis |
OMIM:604273 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Glutathionuria |
|
Gray matter heterotopia, Dysdiadochokinesis, Constipation |
OMIM:231950 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia, Cognitive impairment, Dysphagia |
OMIM:617008 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Pneumonia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splen... |
OMIM:613179 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Wagr Syndrome |
|
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Ambiguous genitalia, Displacement of th... |
ORPHA:893 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Gray matter heterotopia, Type II lissencephaly, Dysgyria |
ORPHA:352682 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Cataract, Proteinuria, Glomerulonephritis, Supernumerary nipple, Short iliac bones,... |
OMIM:614376 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Hec Syndrome |
|
Abnormal pupil morphology, Vaginal hydrocele, Developmental cataract |
ORPHA:2119 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation |
ORPHA:54 |
Alternating Hemiplegia Of Childhood |
|
Mydriasis |
ORPHA:2131 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... |
ORPHA:543 |
Band Heterotopia |
|
Gray matter heterotopia, Subcortical band heterotopia, Polymicrogyria |
OMIM:600348 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract |
ORPHA:170 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Cataract, Broad hallux, Short metatarsal, Flattened epiphysis, Irregular ... |
ORPHA:1856 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
Fragile X Syndrome |
|
Hyperactivity, Periventricular heterotopia, Self-biting, Folate-dependent fragile site at Xq28, R... |
OMIM:300624 |
Galactosemia I |
|
Hepatomegaly, Cataract, Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotrans... |
OMIM:230400 |
Tetrasomy 18P |
|
Achalasia, Gait disturbance, Abnormality of neuronal migration |
ORPHA:3307 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Cataract, Cardiomyopathy, Impotence, Cirrhosis, Hepatic steatosis |
OMIM:606069 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Gait disturbance, Abnormality of neuronal migration, Depression |
OMIM:300957 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cryptorchidism, Cataract, Aplasia/Hypoplasia of the patella |
ORPHA:1069 |
Bickerstaff Brainstem Encephalitis |
|
Anisocoria, Mydriasis |
ORPHA:79138 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Triploidy |
|
Finger syndactyly, Hypoplasia of penis, Cataract, Hypospadias, Hepatomegaly, Cryptorchidism, Abno... |
ORPHA:3376 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Cataract, Hypogonadism, External genital hypoplasia |
ORPHA:363741 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Abnormal lung morphology, Abnormality of the lymphatic system, Abnormal lymph node ... |
ORPHA:54251 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Metatarsus adductus, Cryptorchidism, Bru... |
OMIM:214110 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
Weill-Marchesani Syndrome |
|
Cataract, Ventricular septal defect, Ectopia lentis, Short thumb, Pulmonic stenosis, Aortic valve... |
ORPHA:3449 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... |
OMIM:221900 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Mydriasis |
OMIM:619351 |
Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Microlissencephaly, Lissenceph... |
OMIM:616212 |
Cocaine Intoxication |
|
Mydriasis |
ORPHA:90068 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia |
ORPHA:324416 |
Cofs Syndrome |
|
Microphthalmia |
ORPHA:1466 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly, Dysphagia |
ORPHA:89844 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Pneumonia, Lymph node hypoplasia, Abnormally low T cell re... |
ORPHA:276 |
Lissencephaly 5 |
|
Gray matter heterotopia, Subcortical band heterotopia, Type II lissencephaly |
OMIM:615191 |
Periventricular Nodular Heterotopia 7 |
|
Ataxia, Hypsarrhythmia, Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria |
OMIM:617201 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morphology, Hepatos... |
OMIM:612840 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Cataract, Hypogonadism |
OMIM:601794 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Cataract, Pulmonary lymphangiectasia, Mitral valve prola... |
OMIM:247410 |
Scorpion Envenomation |
|
Miosis, Mydriasis |
ORPHA:466677 |
Alexander Disease |
|
Microcoria |
OMIM:203450 |
Cat-Eye Syndrome |
|
Microphthalmia |
ORPHA:195 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Polymicrogyria |
OMIM:614483 |
19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Finger syndactyly, Congenital hip dislocation, Ventricular septal defect, Hypospad... |
ORPHA:217346 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Cataract, Proximal placement of thumb, Sclerocornea, Cryptorchidism, Postaxial... |
ORPHA:139471 |
Craniotubular Dysplasia, Ikegawa Type |
|
Mydriasis |
OMIM:619727 |
Phacoanaphylactic Uveitis |
|
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... |
ORPHA:209959 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Hypospadias, Decreased response to growth hormone stimulation test, Polycoria, Mi... |
OMIM:180500 |
Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of neuronal migration |
ORPHA:2204 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Pachygyria, Abnormality of neuronal migration |
OMIM:608840 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Cataract, Abnormal pupil morphology, Abnormality of the parathyroid gland, Po... |
ORPHA:2969 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Cataract, Corneal opacity, Sclerocornea, Coxa valga, Metatarsus adductus,... |
ORPHA:2557 |
Short Syndrome |
|
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... |
ORPHA:3163 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Coats Disease |
|
Leukocoria |
OMIM:300216 |
Pierpont Syndrome |
|
Microphthalmia |
OMIM:602342 |
Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Pachygyria |
ORPHA:2512 |
Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Gray matter heterotopia, Constipation, Gastroesophageal... |
OMIM:619312 |
Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Cataract, Arachnodactyly, Hypospadias, Cryptorchidism, Abnormal sho... |
ORPHA:2115 |
Neonatal Adrenoleukodystrophy |
|
EEG abnormality, Abnormality of neuronal migration |
ORPHA:44 |
Warburg Micro Syndrome 1 |
|
Microphthalmia |
OMIM:600118 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Overlapping toe, Cataract, Cryptorchidism, Developmental cataract, Hypoplastic lab... |
OMIM:614225 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Periventricular Nodular Heterotopia 1 |
|
Gray matter heterotopia, Abnormality of neuronal migration |
OMIM:300049 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Cataract, Missing ribs, Cryptorchidism, Abnormal rib morphology, Mi... |
ORPHA:3301 |
Agammaglobulinemia, X-Linked |
|
Recurrent pneumonia, Bronchiectasis, Bronchiolitis obliterans, Lymph node hypoplasia, T lymphocyt... |
OMIM:300755 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia |
ORPHA:48431 |
Meckel Syndrome |
|
Ureteral duplication, Sclerocornea, Asplenia, Microcornea, Urethral atresia, Accessory spleen, Mu... |
ORPHA:564 |
Unilateral Ocular Duplication |
|
Microcornea, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Familial Infantile Myoclonic Epilepsy |
|
Interictal EEG abnormality, EEG with focal spike waves, Ataxia, Gait disturbance, Periventricular... |
ORPHA:352582 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Lissencephaly 8 |
|
Microphthalmia |
OMIM:617255 |
Congenital Toxoplasmosis |
|
Microphthalmia |
ORPHA:858 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia |
OMIM:613155 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... |
ORPHA:79277 |
Acalvaria |
|
Abnormality of neuronal migration |
ORPHA:945 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... |
OMIM:602482 |
Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Attention deficit hyperactivity disorder, Periventricular heterotopia |
OMIM:618974 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
Bent Bone Dysplasia Syndrome 2 |
|
Hepatomegaly, Bowed humerus, Ulnar bowing, Hypoplastic acetabulae, Femoral bowing, Thin ribs, Sho... |
OMIM:620076 |
Meige Disease |
|
Lymph node hypoplasia, Pleural effusion, Absence of lymph node germinal center |
ORPHA:90186 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia |
OMIM:300887 |
Leber Congenital Amaurosis |
|
Abnormality of neuronal migration |
ORPHA:65 |
Periventricular Nodular Heterotopia 9 |
|
Broad-based gait, Gray matter heterotopia, Interictal epileptiform activity, Compulsive behaviors... |
OMIM:618918 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:93267 |
Galloway-Mowat Syndrome |
|
EEG abnormality, Pachygyria, Abnormality of neuronal migration, Cognitive impairment |
ORPHA:2065 |
Myhre Syndrome |
|
Abnormal penis morphology, Brachydactyly, Cataract, Hypospadias, External genital hypoplasia, Pre... |
ORPHA:2588 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Cataract, Postaxial polydactyly, Postaxial hand polydactyly, Biliary tract abnormalit... |
OMIM:209900 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Cataract, Mitral valve prolapse, Nephropathy, Short dist... |
ORPHA:1563 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finge... |
OMIM:274000 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Ataxia, Periventricular heterotopia, Aggressive behavior, Irritability, Self-injurious behavior, ... |
OMIM:619833 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Cataract, Ventricular septal defect, Renal cyst... |
ORPHA:488618 |
Plague |
|
Conjunctival hyperemia, Mydriasis |
ORPHA:707 |
Thanatophoric Dysplasia Type 2 |
|
Abnormality of neuronal migration, Cognitive impairment |
ORPHA:93274 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Cataract |
OMIM:619649 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Bilateral Perisylvian Polymicrogyria |
|
EEG with polyspike wave complexes, EEG with parietal focal spikes, EEG with frontal focal spikes,... |
ORPHA:98889 |
Seckel Syndrome 2 |
|
Microphthalmia |
OMIM:606744 |
Chiari Malformation Type Ii |
|
Gray matter heterotopia, Ataxia, Dysphagia |
OMIM:207950 |
Codas Syndrome |
|
Short humerus, Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Metaphyse... |
OMIM:600373 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Microcornea, Atrial septal defect, Vesicoureteral reflux, A... |
OMIM:118450 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:290 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
Congenital Fibrosis Of Extraocular Muscles |
|
Cataract, Miosis, Hypogonadotropic hypogonadism, Anisocoria, Abnormal pupil shape, Slow pupillary... |
ORPHA:45358 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Hypospadias, Sclerocornea, Precocious puberty, Microcornea, Ectopia pupillae |
OMIM:615877 |
Alagille Syndrome |
|
Keratoconus, Cryptorchidism, Abnormal pupil morphology, Corneal dystrophy |
ORPHA:52 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia |
OMIM:613153 |
Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... |
ORPHA:899 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Alg11-Cdg |
|
Gray matter heterotopia, EEG with burst suppression, Episodic vomiting, Ataxia |
ORPHA:280071 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
Meckel Syndrome, Type 5 |
|
Microphthalmia |
OMIM:611561 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Frontonasal Dysplasia 1 |
|
Microphthalmia |
OMIM:136760 |
Joubert Syndrome |
|
Polymicrogyria, Ataxia, Abnormality of neuronal migration, Gait disturbance |
ORPHA:475 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Man1B1-Cdg |
|
Broad-based gait, Polyphagia, Periventricular heterotopia |
ORPHA:397941 |
Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
Charcot-Marie-Tooth Disease Type 1E |
|
Anisocoria, Tonic pupil, Abnormal pupil morphology, Slow pupillary light response |
ORPHA:90658 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, 11 pairs of ribs, Elevated hepatic transaminase, Cataract, Portal hypertension,... |
OMIM:620005 |
16P13.11 Microdeletion Syndrome |
|
Abnormality of neuronal migration, EEG abnormality, Self-injurious behavior, Gastroesophageal ref... |
ORPHA:261236 |
Bresek Syndrome |
|
Microphthalmia, Optic nerve hypoplasia |
ORPHA:85284 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia |
OMIM:214150 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Edinburgh Malformation Syndrome |
|
Abnormality of neuronal migration |
ORPHA:1895 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Periventricular heterotopia, Inappropriate laughter, Cognitive impairment, Difficulty wal... |
OMIM:618476 |
Duane Retraction Syndrome |
|
Central heterochromia, Abnormal pupil morphology, Microcornea, Hypoplastic iris stroma, Chorioret... |
ORPHA:233 |
Neurocutaneous Melanocytosis |
|
EEG abnormality, Abnormality of neuronal migration |
ORPHA:2481 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia |
OMIM:610756 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Increased density of long bones, Tibial bowing, Hypoplasia of first ribs, Hepatobl... |
OMIM:269150 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Triphalangeal thum... |
ORPHA:857 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia |
OMIM:618652 |
Orofaciodigital Syndrome Xvi |
|
Inability to walk, Gray matter heterotopia, Ataxia |
OMIM:617563 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia |
ORPHA:3191 |
Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia |
ORPHA:3378 |
Aniridia And Absent Patella |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the patella |
OMIM:106220 |
Acro-Renal-Ocular Syndrome |
|
Microcornea, Triphalangeal thumb, Vesicoureteral reflux, Iris coloboma, Hypoplasia of the ulna, F... |
ORPHA:959 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia |
OMIM:615960 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of neuronal migration, Cognitive impairment |
ORPHA:2063 |
Joubert Syndrome 30 |
|
Gray matter heterotopia |
OMIM:617622 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Subcortical heterotopia, Agyria, Gray matter heterotopia, Lissencephaly, Pachygyria, Polymicrogyr... |
OMIM:614643 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
Desmosterolosis |
|
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... |
ORPHA:35107 |
Microphthalmia, Syndromic 3 |
|
Cataract, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Ventricular ... |
OMIM:206900 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Pachygyria, Ataxia, Periventricular heterotopia |
ORPHA:255138 |
Familial Dysautonomia |
|
Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity |
ORPHA:1764 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia |
OMIM:614219 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Joubert Syndrome 37 |
|
Microphthalmia |
OMIM:619185 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Hypospadias, Ventricular septal defect, Sclerocornea, Ovotestis, Cataract, Hypo... |
OMIM:309801 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
Spondyloocular Syndrome |
|
Long toe, Cataract, Unilateral cryptorchidism, Arachnodactyly, Femur fracture, Overlapping toe, L... |
OMIM:605822 |
Periventricular Nodular Heterotopia |
|
Gastroesophageal reflux, Periventricular heterotopia |
ORPHA:98892 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:152950 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... |
ORPHA:2211 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia |
OMIM:169550 |
Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma |
OMIM:618914 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Gray matter heterotopia, Polymicrogyria, Type II lissencephaly |
ORPHA:370959 |
Temtamy Syndrome |
|
Microphthalmia |
OMIM:218340 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria |
ORPHA:289483 |
9Q21.13 Microdeletion Syndrome |
|
Gray matter heterotopia, Difficulty walking |
ORPHA:531151 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Keratoconjunctivitis, Chronic hepatitis... |
OMIM:269200 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia |
OMIM:618494 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia |
OMIM:618804 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia |
OMIM:617883 |
Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria |
OMIM:219250 |
Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
Thanatophoric Dysplasia |
|
Gray matter heterotopia |
ORPHA:2655 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Self-injurious behavior, Impulsivity, Attention deficit hyperactivity disorder, Periventricular h... |
OMIM:618929 |
Coffin-Lowry Syndrome |
|
Self-injurious behavior, Gait disturbance, Abnormality of neuronal migration |
ORPHA:192 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Inability to walk, Gray matter heterotopia, Vomiting, Dysphagia |
ORPHA:26791 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia |
OMIM:243310 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia |
OMIM:602361 |
Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia |
ORPHA:494344 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Ectopia pupillae, Astigmatism, Cataract |
OMIM:618727 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:228390 |
Vici Syndrome |
|
Gray matter heterotopia, EEG abnormality |
ORPHA:1493 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microcornea, Cataract, Persistent pupillary membrane |
OMIM:257850 |
Meckel Syndrome, Type 2 |
|
Microphthalmia |
OMIM:603194 |
Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... |
ORPHA:2671 |
6Q Terminal Deletion Syndrome |
|
Periventricular heterotopia, Abnormality of neuronal migration, Dysmetria, Hypsarrhythmia, Gait a... |
ORPHA:75857 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
Joubert Syndrome With Oculorenal Defect |
|
Ataxia, Abnormality of neuronal migration |
ORPHA:2318 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum |
OMIM:140850 |
3C Syndrome |
|
Gastroesophageal reflux, Abnormality of neuronal migration |
ORPHA:7 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane |
OMIM:613150 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Diarrhea, Polymicrogyria, Vomiting, Abnormality of neuronal migration |
OMIM:608836 |
Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Periventricular heterotopia, Unsteady gait, Decreased amplit... |
OMIM:618733 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:609053 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia |
OMIM:617244 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
Congenital Disorder Of Deglycosylation 2 |
|
Gray matter heterotopia, Polymicrogyria, Dysphagia |
OMIM:619775 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia |
ORPHA:335 |
Nijmegen Breakage Syndrome |
|
Abnormality of chromosome stability, Chronic diarrhea, Abnormality of neuronal migration, Attenti... |
ORPHA:647 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
ORPHA:1791 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia |
OMIM:616395 |
Warburg Micro Syndrome 4 |
|
Microphthalmia |
OMIM:615663 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2518 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormality of neuronal migration, Gastroesophageal reflux, Vomiting, Attention deficit hyperacti... |
ORPHA:464311 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Van Maldergem Syndrome 1 |
|
Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ... |
OMIM:601390 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Attention deficit hyperactivity disorder, Periventricular heterotopia |
OMIM:618870 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Unsteady gait, Gray matter heterotopia, Dysphagia, Loss of ambulation, Polymicrogyria |
OMIM:214100 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
Meckel Syndrome, Type 4 |
|
Microphthalmia |
OMIM:611134 |
Refsum Disease |
|
Microphthalmia |
ORPHA:773 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged... |
ORPHA:3404 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:617397 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Bilateral microphthalmos |
ORPHA:369891 |
Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
Joubert Syndrome With Hepatic Defect |
|
Ataxia, Abnormality of neuronal migration, Gait disturbance |
ORPHA:1454 |
Warburg Micro Syndrome 3 |
|